

Gene Number:                  1
Celera Gene:                  hCG14641 - 62000133120655
Celera Transcript:            hCT1686556 - 62000133120656
Public Transcript Accession:  NM_000833
Celera Protein:               hCP1691145 - 197000069446819
Public Protein Accession:     NP_000824
Gene Symbol:                  GRIN2A
Protein Name:                  glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Celera Genomic Axis:          GA_x5YUV32W1C6(4524636..4959938)
Chromosome:                   16
OMIM NUMBER:                  138253
OMIM Information:


Transcript Sequence  (SEQ ID NO:1):
ATCATGGGACCGGGTGAGCGCTGAGAATCGCGGCCGCAGCCATCAGCCCTGGAGATGACCAGGAGCGGCCACTGCTGAGAACTATGTGGAGAGAGGCTGC
GAGCCCTGCTGCAGAGCCTCCGGCTGGGATAGCCGCCCCCCGTGGGGGCGATGCGGACAGCGCGGGACAGCCAGGGGAGCGCGCTGGGGCCGCAGCATGC
GGGAACCCGCTAAACCCGGTGGCTGCTGAGGCGGCCGAGATGCTCGTGCGCGCAGCGCGCCCCACTGCATCCTCGACCTTCTCGGGCTACAGGGACCGTC
AGTGGCGACTATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCGAGCGCGGCGGCGGAGAAGGGT
CCCCCCGCGCTAAATATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCGGCGGGGCTGC
CCCTGGACGTGAACGTGGTAGCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGG
CCTCGTGTTTGGGGACGACACGGACCAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACCTTCGTCCCCATCTTGGGCATTCATGGGGGC
GCATCTATGATCATGGCTGACAAGGATCCGACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGG
ATTATGACTGGCATGTCTTCTCCCTGGTGACCACTATCTTCCCTGGCTACAGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGG
CTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTAC
TGTTCCAAAGACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGGA
ACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCCTACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGG
CATCCTAACCACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAGGCCAAGGCCAGCTGCTACGGGCAGATGGAGAGGCCAGAGGTCCCG
ATGCACACCTTGCACCCATTTATGGTCAATGTTACATGGGATGGCAAAGACTTATCCTTCACTGAGGAAGGCTACCAGGTGCACCCCAGGCTGGTGGTGA
TTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAACCATACGCTGAGCCTGAGGCACGCCGTGTGGCCCAGGTACAAGTCCTTCTC
CGACTGTGAGCCGGATGACAACCATCTCAGCATCGTCACCCTGGAGGAGGCCCCATTCGTCATCGTGGAAGACATAGACCCCCTGACCGAGACGTGTGTG
AGGAACACCGTGCCATGTCGGAAGTTCGTCAAAATCAACAATTCAACCAATGAGGGGATGAATGTGAAGAAATGCTGCAAGGGGTTCTGCATTGATATTC
TGAAGAAGCTTTCCAGAACTGTGAAGTTTACTTACGACCTCTATCTGGTGACCAATGGGAAGCATGGCAAGAAAGTTAACAATGTGTGGAATGGAATGAT
CGGTGAAGTGGTCTATCAACGGGCAGTCATGGCAGTTGGCTCGCTCACCATCAATGAGGAACGTTCTGAAGTGGTGGACTTCTCTGTGCCCTTTGTGGAA
ACGGGAATCAGTGTCATGGTTTCAAGAAGTAATGGCACCGTCTCACCTTCTGCTTTTCTAGAACCATTCAGCGCCTCTGTCTGGGTGATGATGTTTGTGA
TGCTGCTCATTGTTTCTGCCATAGCTGTTTTTGTCTTTGAATACTTCAGCCCTGTTGGATACAACAGAAACTTAGCCAAAGGGAAAGCACCCCATGGGCC
TTCTTTTACAATTGGAAAAGCTATATGGCTTCTTTGGGGCCTGGTGTTCAATAACTCCGTGCCTGTCCAGAATCCTAAAGGGACCACCAGCAAGATCATG
GTATCTGTATGGGCCTTCTTCGCTGTCATATTCCTGGCTAGCTACACAGCCAATCTGGCTGCCTTCATGATCCAAGAGGAATTTGTGGACCAAGTGACCG
GCCTCAGTGACAAAAAGTTTCAGAGACCTCATGACTATTCCCCACCTTTTCGATTTGGGACAGTGCCTAATGGAAGCACGGAGAGAAACATTCGGAATAA
CTATCCCTACATGCATCAGTACATGACCAAATTTAATCAGAAAGGAGTAGAGGACGCCTTGGTCAGCCTGAAAACGGGGAAGCTGGACGCTTTCATCTAC
GATGCCGCAGTCTTGAATTACAAGGCTGGGAGGGATGAAGGCTGCAAGCTGGTGACCATCGGGAGTGGGTACATCTTTGCCACCACCGGTTATGGAATTG
CCCTTCAGAAAGGCTCTCCTTGGAAGAGGCAGATCGACCTGGCCTTGCTTCAGTTTGTGGGTGATGGTGAGATGGAGGAGCTGGAGACCCTGTGGCTCAC
TGGGATCTGCCACAACGAGAAGAACGAGGTGATGAGCAGCCAGCTGGACATTGACAACATGGCGGGCGTATTCTACATGCTGGCTGCCGCCATGGCCCTT
AGCCTCATCACCTTCATCTGGGAGCACCTCTTCTACTGGAAGCTGCGCTTCTGTTTCACGGGCGTGTGCTCCGACCGGCCTGGGTTGCTCTTCTCCATCA
GCAGGGGCATCTACAGCTGCATTCATGGAGTGCACATTGAAGAAAAGAAGAAGTCTCCAGACTTCAATCTGACGGGATCCCAGAGCAACATGTTAAAACT
CCTCCGGTCAGCCAAAAACATTTCCAGCATGTCCAACATGAACTCCTCAAGAATGGACTCACCCAAAAGAGCTGCTGACTTCATCCAAAGAGGTTCCCTC
ATCATGGACATGGTTTCAGATAAGGGGAATTTGATGTACTCAGACAACAGGTCCTTTCAGGGGAAAGAGAGCATTTTTGGAGACAACATGAACGAACTCC
AAACATTTGTGGCCAACCGGCAGAAGGATAACCTCAATAACTATGTATTCCAGGGACAACATCCTCTTACTCTCAATGAGTCCAACCCTAACACGGTGGA
GGTGGCCGTGAGCACAGAATCCAAAGCGAACTCTAGACCCCGGCAGCTGTGGAAGAAATCCGTGGATTCCATACGCCAGGATTCACTATCCCAGAATCCA
GTCTCCCAGAGGGATGAGGCAACAGCAGAGAATAGGACCCACTCCCTAAAGAGCCCTAGGTATCTTCCAGAAGAGATGGCCCACTCTGACATTTCAGAAA
CGTCAAATCGGGCCACGTGCCACAGGGAACCTGACAACAGTAAGAACCACAAAACCAAGGACAACTTTAAAAGGTCAGTGGCCTCCAAATACCCCAAGGA
CTGTAGTGAGGTCGAGCGCACCTACCTGAAAACCAAATCAAGCTCCCCTAGAGACAAGATCTACACTATAGATGGTGAGAAGGAGCCTGGTTTCCACTTA
GATCCACCCCAGTTTGTTGAAAATGTGACCCTGCCCGAGAACGTGGACTTCCCGGACCCCTACCAGGATCCCAGTGAAAACTTCCGCAAGGGGGACTCCA
CGCTGCCAATGAACCGGAACCCCTTGCATAATGAAGAGGGGCTTTCCAACAACGACCAGTATAAACTCTACTCCAAGCACTTCACCTTGAAAGACAAGGG
TTCCCCGCACAGTGAGACCAGCGAGCGATACCGGCAGAACTCCACGCACTGCAGAAGCTGCCTTTCCAACATGCCCACCTATTCAGGCCACTTCACCATG
AGGTCCCCCTTCAAGTGCGATGCCTGCCTGCGGATGGGGAACCTCTATGACATCGATGAAGACCAGATGCTTCAGGAGACAGGTAACCCAGCCACCGGGG
AGCAGGTCTACCAGCAGGACTGGGCACAGAACAATGCCCTTCAATTACAAAAGAACAAGCTAAGGATTAGCCGTCAGCATTCCTACGATAACATTGTCGA
CAAACCTAGGGAGCTAGACCTTAGCAGGCCCTCCCGGAGCATAAGCCTCAAGGACAGGGAACGGCTTCTGGAGGGAAATTTTTACGGCAGCCTGTTTAGT
GTCCCCTCAAGCAAACTCTCGGGGAAAAAAAGCTCCCTTTTCCCCCAAGGTCTGGAGGACAGCAAGAGGAGCAAGTCTCTCTTGCCAGACCACACCTCCG
ATAACCCTTTCCTCCACTCCCACAGGGATGACCAACGCTTGGTTATTGGGAGATGCCCCTCGGACCCTTACAAACACTCGTTGCCATCCCAGGCGGTGAA
TGACAGCTATCTTCGGTCGTCCTTGAGGTCAACGGCATCGTACTGTTCCAGGGACAGTCGGGGCCACAATGATGTGTATATTTCGGAGCATGTTATGCCT
TATGCTGCAAATAAGAATAATATGTACTCTACCCCCAGGGTTTTAAATTCCTGCAGCAATAGACGCGTGTACAAGAAAATGCCTAGTATCGAATCTGATG
TTTAAAAATCTTCCATTAATGTTTTATCTATAGGGAAATATACGTAATGGCCAATGTTCTGGAGGGTAAATGTTGGATGTCCAATAGTGCCCTGCTAAGA
GGAAGAAGATGTAGGGAGGTATTTTGTTGTTGTTGTTGTTGGCTCTTTTGCACACGGCTTCATGCCATAATCTTCCACTCAAGGAATCTTGTGAGGTGTG
TGCTGAGCATGGCAGACACCAGATAGGTGAGTCCTTAACCAAAAATAACTAACTACATAAGGGCAAGTCTCCGGGACATGCCTACTGGGTATGTTGGCAA
TAATGATGCATTGGATGCCAATGGTGATGTTATGATTTCCTATATTCCAAATTCCATTAAGGTCAGCCCACCATGTAATTTTCTCATCAGAAATGCCTAA
TGGTTTCTCTAATACAGAATAAGCAATATGGTGTGCATGTAAACCTGACACAGACAAAATAAAAACAGTTAAGAATGCATCTGCACTGTAGTGCGATTGA
CATGTGCAAGAGATTAGGAAGTTTGGCTCGTAACAGTTTCAGCTTTCTTGTTATGCCTTCCATCACAGCCCAGGCTCACCCCAAGAACTCCAGGCTCCCC
TAAAGAATAGCAAATCAGTGTGTTCGTGATGACTGTGCTACCTTCATTATAGTTCATTTCCAAGACACATCTGGAGCCAAAGGCCCGAGGGACCCTCAGG
TGGGGAGAGCTACAGGAATCTCTTTGGATGTTGATGTGTGTTTCTCTCACCCTCGGCTTCGATGGTCTTGTTCAGAGCTGCATAAACTAACACATTTATG
TCTCCGAGATCTAAGTGTGGATCTTCTGTCTGTGACACAGTGGCCATTGTAGTTTATCCCGAAGACGCCTATGTACGTAAGTTTGCATTTCCTCCCTTCT
GGTGATGACTCAGGGTTGTATAGTATCTGTTACCCCTTCCCTCCCAGAGTAACCATAACTCGTTCCGTTTCCAAACAGCCATGGTGGTGTCCAATTAGCT
GTGTATCGCTCTTCCCAGAGTTGTTAATGTGGTGACATGCACCAACAGCCGTATGTGTACTGTGATCTGTAAGAAGTACAATGCCATCTGTCTGCCGAAG
GCTAGCATGGTTTTAGGTTTATCTTCCTTCACATCCAGAAATTCTGTTGGACACTCACTTCCACCCCAAACTCCTCAAATCAAAAGCCTTCAAAACACGA
GGCACTCTTGGATCTACCCTGAGTATCCTCCAAACTGTGGATACAGTTTAGTGAGACAAGCAATTTCTCCCTTCTGAGTTATTCTCTCTGTTGGTGGCAA
ACCACTTCATAGCACCAACAGAGATGTAGGAAAAATTCCTCAAAGTATTTGTCATTTCTGAGTCGCCTGCATTATCCCATTCTTATTCTCCTCAAACCTG
TGCATATATGACATGAAATGATATCCATTTTTTTTTTAAGTTAGAGACAGAGAGGGGAATACTTATGCATGGGGAGCCTGTTAGCACAGTGCCTGCCACA
AAAACAAGTGCCCCCGACAAGATAGTTGCTATGTTATGACACTTTCTCAGATCAGGATTTTCTAGTTTAAAAATTAAATATCATAAAACCAGCAAATAAT
ATTAACTAAACCTTTTATATAGTTCTACTCTGTTAATTAGTGTATTTCATGTACATGAATATTTTTGAAGTATTTGGGATAACTAGCCATCAGTGTTTGC
AGAAGACCTCAGTCTGTTTTGGGCCATTACGGAAACACTAAGCTAATGTAGACTCGCCTGGCCATTTCCTGGTTTCCTCCTGCATTCTGCTTTACATTCT
TGAAGAAAGGGATAAAGTGGCAGGTTGAAAAATTATCCCATTTCTTCTCCTCATGGTGTGCGTTCTGTTTTGTAAGTATTATTTTCTTGCATGTGGGCAA
GTGTCAGGGATGATTCCCTTAAAGCTCAAGGATGCATGGAATAGCTCCATCTTTGGGAAAGTACACCTGACCTACAGTGTTCCTATAATGAAAAGTGGTT
GCAATAAATTTCAGGGTCAATCATAGGGAGACAGAGGGAGGCAGTGGGTGAGAGGAGCTTCCTTTCATTTTTGAAAGGCAGAAGGGGCTGACTAGGTGCT
GGGGATGCATGTGCTTGAAAATGACATTTTATTTCCCGGATGCTGTACCTCTGCTGCCCCAAGACCCAGCCATGGAGAAGCCTGGATCGAAGGGCCCAGA
ATAGTCACCCCAACATCTGATCCTAAATCTGAATCTCCATGACTGTGTAGCCTTTTAGCCCTTTCTACCTTCTGCCCTTCCAGTGCATTCCAGACCTTAA
TCCACCCCAGCAAGGATCGCCTCCATTTCCTCATGAGTCTGGGATGTTTTGACATGAATGAATTAAAAAGTCTTCCCAGAATACAGAAGAGTGATTTGTC
GTCAAGCCAAAGAGGCTTTCTGTCTTCCTCTGGTGTCCTCTAAACCCAGGGGGCTGCCAAATGCCACAGAGACCTCCAGGGAGAGTGAGAGTTATACTTG
GACTGACTTCATCGGTCAGAAAGCCTTCCCCTAACAGCA


Protein Sequence     (SEQ ID NO:262):
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVF
GDDTDQEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGYREFISFVKTTVDNSFVGWDM
QNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPRLVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCE
PDDNHLSIVTLEEAPFVIVEDIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLVTNGKHGKKVNNVWNGMIGEV
VYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRSNGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVDQVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPY
MHQYMTKFNQKGVEDALVSLKTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALLQFVGDGEMEELETLWLTGIC
HNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIWEHLFYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNMNELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAV
STESKANSRPRQLWKKSVDSIRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNHKTKDNFKRSVASKYPKDCSE
VERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVTLPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNPATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPR
ELDLSRPSRSISLKDRERLLEGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIGRCPSDPYKHSLPSQAVNDSY
LRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYSTPRVLNSCSNRRVYKKMPSIESDV*



SNP Information


Context              (SEQ ID NO:523):
CATGGTTTCAGATAAGGGGAATTTGATGTACTCAGACAACAGGTCCTTTCAGGGGAAAGAGAGCATTTTTGGAGACAACATGAACGAACTCCAAACATTT
S
TGGCCAACCGGCAGAAGGATAACCTCAATAACTATGTATTCCAGGGACAACATCCTCTTACTCTCAATGAGTCCAACCCTAACACGGTGGAGGTGGCCGT
Celera SNP ID:                hCV25631542
SNP Position Transcript:      3209
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|C,1)  african american(G,30|C,0)  total(G,65|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:262, 967,(V,GTG) (L,CTG)



Context              (SEQ ID NO:524):
AAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAGA
R
GATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTC
Celera SNP ID:                hCV25631541
SNP Position Transcript:      972
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,33)  african american(G,0|A,24)  total(G,1|A,57)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:262, 221,(K,AAG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,35)  african american(G,0|A,32)  total(G,1|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:262, 221,(K,AAG) (R,AGG)



Context              (SEQ ID NO:525):
TGACCGGCCTCAGTGACAAAAAGTTTCAGAGACCTCATGACTATTCCCCACCTTTTCGATTTGGGACAGTGCCTAATGGAAGCACGGAGAGAAACATTCG
S
AATAACTATCCCTACATGCATCAGTACATGACCAAATTTAATCAGAAAGGAGTAGAGGACGCCTTGGTCAGCCTGAAAACGGGGAAGCTGGACGCTTTCA
Celera SNP ID:                hCV2974013
SNP Position Transcript:      2395
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,8|G,10) ; no_pop(C,-|G,536) ; no_pop(C,-|G,
-)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:262, 695,(R,CGG) (R,CGC)



Context              (SEQ ID NO:526):
TGAGCAGCCAGCTGGACATTGACAACATGGCGGGCGTATTCTACATGCTGGCTGCCGCCATGGCCCTTAGCCTCATCACCTTCATCTGGGAGCACCTCTT
Y
TACTGGAAGCTGCGCTTCTGTTTCACGGGCGTGTGCTCCGACCGGCCTGGGTTGCTCTTCTCCATCAGCAGGGGCATCTACAGCTGCATTCATGGAGTGC
Celera SNP ID:                hCV29181344
SNP Position Transcript:      2833
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:262, 841,(F,TTC) (F,TTT)



Context              (SEQ ID NO:527):
GACTTATCCTTCACTGAGGAAGGCTACCAGGTGCACCCCAGGCTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGA
M
CCATACGCTGAGCCTGAGGCACGCCGTGTGGCCCAGGTACAAGTCCTTCTCCGACTGTGAGCCGGATGACAACCATCTCAGCATCGTCACCCTGGAGGAG
Celera SNP ID:                hCV27975415
SNP Position Transcript:      1449
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:262, 380,(N,AAC) (T,ACC)



Context              (SEQ ID NO:528):
GGTACAAGTCCTTCTCCGACTGTGAGCCGGATGACAACCATCTCAGCATCGTCACCCTGGAGGAGGCCCCATTCGTCATCGTGGAAGACATAGACCCCCT
R
ACCGAGACGTGTGTGAGGAACACCGTGCCATGTCGGAAGTTCGTCAAAATCAACAATTCAACCAATGAGGGGATGAATGTGAAGAAATGCTGCAAGGGGT
Celera SNP ID:                hCV2663544
SNP Position Transcript:      1585
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,20|A,14)  african american(G,16|A,10)  total(G,36|A,24)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:262, 425,(L,CTG) (L,CTA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2|G,2) ; no_pop(A,514|G,220) ; no_pop(A,-|G
,-)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:262, 425,(L,CTG) (L,CTA)



Context              (SEQ ID NO:529):
GCCTAATGGTTTCTCTAATACAGAATAAGCAATATGGTGTGCATGTAAACCTGACACAGACAAAATAAAAACAGTTAAGAATGCATCTGCACTGTAGTGC
R
ATTGACATGTGCAAGAGATTAGGAAGTTTGGCTCGTAACAGTTTCAGCTTTCTTGTTATGCCTTCCATCACAGCCCAGGCTCACCCCAAGAACTCCAGGC
Celera SNP ID:                hCV30605466
SNP Position Transcript:      5195
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:262, None



Context              (SEQ ID NO:530):
GGTGTGCATGTAAACCTGACACAGACAAAATAAAAACAGTTAAGAATGCATCTGCACTGTAGTGCGATTGACATGTGCAAGAGATTAGGAAGTTTGGCTC
R
TAACAGTTTCAGCTTTCTTGTTATGCCTTCCATCACAGCCCAGGCTCACCCCAAGAACTCCAGGCTCCCCTAAAGAATAGCAAATCAGTGTGTTCGTGAT
Celera SNP ID:                hCV32342289
SNP Position Transcript:      5230
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,349|G,18)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:262, None



Context              (SEQ ID NO:531):
GTTTATCTTCCTTCACATCCAGAAATTCTGTTGGACACTCACTTCCACCCCAAACTCCTCAAATCAAAAGCCTTCAAAACACGAGGCACTCTTGGATCTA
Y
CCTGAGTATCCTCCAAACTGTGGATACAGTTTAGTGAGACAAGCAATTTCTCCCTTCTGAGTTATTCTCTCTGTTGGTGGCAAACCACTTCATAGCACCA
Celera SNP ID:                hCV26609067
SNP Position Transcript:      5917
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,190|C,498) ; no_pop(T,1|C,4) ; no_pop(T,154|C,213) ; no_pop(T
,-|C,-) ; no_pop(T,48|C,72)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:262, None



Gene Number:                  2
Celera Gene:                  hCG14660 - 209000105665206
Celera Transcript:            hCT5681 - 209000105665199
Public Transcript Accession:
Celera Protein:               hCP35450 - 209000105665201
Public Protein Accession:
Gene Symbol:                  IRF2BP2
Protein Name:                  interferon regulatory factor 2 binding protein 2
Celera Genomic Axis:          GA_x5YUV32VWMC(10585415..10602618)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:2):
GCGTCCCGGCGGCAGTCGTGCTACCTGTGTGACCTGCCCCGCATGCCCTGGGCCATGATCTGGGACTTCACCGAACCCGTCTGCCGCGGCTGCGTCAACT
ACGAGGGCGCCGACCGCGTCGAGTTCGTCATCGAGACGGCGCGGCAGCTCAAGCGGGCGCACGGCTGCTTCCCGGAGGGTCGCTCCCCACCCGGCGCCGC
GGCCTCGGCCGCCGCCAAGCCGCCGCCGCTCTCCGCCAAGGACATCCTTTTGCAGCAGCAGCAGCAGCTTGGCCACGGCGGCCCCGAGGCGGCCCCGCGC
GCGCCGCAGGCCTTGGAGCGCTACCCGTTGGCGGCCGCGGCCGAGAGGCCCCCGCGCCTCGGCTCTGACTTCGGCAGCAGCCGCCCGGCAGCGAGCCTGG
CCCAGCCGCCGACGCCGCAGCCGCCGCCCGTGAACGGCATCCTGGTGCCCAACGGCTTCTCCAAGCTAGAGGAGCCGCCCGAGCTGAATCGCCAGAGCCC
GAACCCGCGGCGCGGCCACGCGGTGCCGCCCACCCTGGTGCCGCTCATGAACGGCTCGGCCACGCCGCTGCCCACCGCGCTCGGCCTCGGCGGCCGCGCT
GCCGCCTCCTTAGCCGCGGTGTCCGGAACCGCGGCCGCCAGCCTGGGCTCCGCGCAGCCCACCGATCTGGGCGCCCACAAGCGGCCGGCATCCGTGTCGA
GCAGCGCTGCCGTGGAGCACGAGCAGCGTGAGGCGGCAGCCAAGGAGAAACAACCGCCGCCGCCTGCGCACCGGGGCCCGGCCGACAGCCTGTCCACCGC
GGCCGGGGCCGCCGAGCTGAGCGCGGAAGGTGCGGGCAAGAGCCGCGGGTCTGGAGAGCAGGACTGGGTCAACAGGCCCAAGACCGTGCGCGACACGCTG
CTGGCGCTGCACCAGCACGGCCACTCGGGGCCCTTCGAGAGCAAGTTTAAGAAGGAGCCGGCCCTGACTGCAGGCAGGTTGTTGGGTTTCGAGGCCAACG
GGGCCAACGGGTCTAAAGCAGTTGCAAGAACAGCAAGGAAAAGGAAGCCCTCTCCAGAACCAGAAGGTGAAGTCGGGCCCCCTAAGATCAACGGAGAGGC
CCAGCCGTGGCTGTCCACATCCACAGAGGGGCTCAAGATCCCCATGACTCCTACATCCTCTTTTGTGTCTCCGCCACCACCCACTGCCTCACCTCATTCC
AACCGGACCACACCGCCTGAAGCGGCCCAGAATGGCCAGTCCCCCATGGCAGCCCTGATCTTAGTAGCAGACAATGCAGGGGGCAGTCATGCCTCAAAAG
ATGCCAACCAGGTTCACTCCACTACCAGGAGGAATAGCAACAGTCCGCCCTCTCCGTCCTCTATGAACCAAAGAAGGCTGGGCCCCAGAGAGGTGGGGGG
CCAGGGAGCAGGCAACACAGGAGGACTGGAGCCAGTGCACCCTGCCAGCCTCCCGGACTCCTCTCTGGCAACCAGTGCCCCGCTGTGCTGCACCCTCTGC
CACGAGCGGCTGGAGGACACCCATTTTGTGCAGTGCCCGTCCGTCCCTTCGCACAAGTTCTGCTTCCCTTGCTCCAGACAAAGCATCAAACAGCAGGGAG
CTAGTGGAGAGGTCTATTGTCCCAGTGGGGAAAAATGCCCTCTTGTGGGCTCCAATGTCCCCTGGGCCTTTATGCAAGGGGAAATTGCAACCATCCTTGC
TGGAGATGTGAAAGTGAAAAAAGAGAGAGACTCGTGACTTTTCCGGTTTCAGAAAAACCCAATGATTACCCTTAATTAAAACTGCTTGAATTGTATATAT
ATCTCCATATATATATATATCCAAGACAAGGGAAATGTAGACTTCATAAACATGGCTGTATAATTTTGATTTTTTTTGAATACATTGTGTTTCTATATTT
TTTTTGACGACAAAAGGTATGTACTTATAAAGACATTTTTTTCTTTTGTTAACGTTATTAGCATATCTTTGTGCTTTATTATCCTGGTGACAGTTACCGT
TCTATGTAGGCTGTGACTTGCGCTGCTTTTTTAGAGCACTTGGCAAATCAGAAATGCTTCTAGCTGTATTTGTATGCACTTATTTTAAAAAGAAAAAAAA
AGCCAAATACATTTTCTGACATTGTAAGATTGCCTTACTGTCTGTCATTCCTTATTGCTGGCCCCTTTCTCAGGCCGGAGGCCAAGTGGTGGAGAAGGAA
AGGAAATGATCGAACGGGCATGTTGTCAAGTGGGCATGCCACTGGGAAATACCACCAGTTTACCCTGAAACATTGTCCTCAGAGGAGTAGGAAAGTGGAT
TTTGAATCTCTATTTTGCTCAAAAGTTCAGTTCCTGAGATACTGATGACTGAGAGTGCTGCTGGGAAATTTTCAGGATTGTGTGGTCTTTTGGGGTTTTT
TGTTTTTTTTTTTTTAAGACAAAGTTGACCGCTGTTCACTGTCCACGTGATCAGTTGTAAGATTACAATGCTGCATGCTAGTTGGTTACATAAGATACAA
TTCCAGTGATGGAAGGCGGTTATAATGGATGGTGGTGTGTACAAGATGGCACTGCCATCTTTGAGCAGAGCCCAGCTCTGCAGCGCCACTTCATCTTTTT
AAACACCCTAGAGGTCTGTTTGTTGTTGCTGTTGTCCTTTATTTTGAAAGAGTTGCAAGAGAAGTTACAGTCCAGGTGAACTTGGAGATTGTGGGATTGG
TTTTGTTTCTGTTTTGTTTTGTTTATCATTTACCTGTAGTGCTATTGCTGTTGATACTATCACCTATACCCTGTTTCTAGTGAGTGCTGAATACAGTATG
GTACAATGACAGTAACAGCCGCGTGGTGCTGCCAGGACTGCCCTTGGGCATATCAGTGACAGCCCAAATGTGGGTGGAGGAAACCTGTAATTTCCTTCTT
AACATGTGTTTGAAATACCAAGTGAATAATACTGTTCTGGAAAAAAATGATAAACTAGTGGAAATTAAAGAAATTAAGGGTTTTATATAATAGACAGGCC
CCACCTCTCAAAATATTTTTAGAAGTCTTTTTGTAAACTAATTTCTTTTGATCACTATTTTGCATCAGTAAAATGATTTTTTTAAAACCAATAAATCATC
AATTATTAGAAATAGTTGTCTCACAGTGATACTGGTTTTTCTTTTGTGCTGTTATGATTTAACATTGACAGGAACACTATTTTAAATCCTTACGTTCAGG
TGTTTGTAACTTGGCCTTATAATTAGGCTGAATTATGGCTTCAAGGTCTACAATTTATGTGTATGGTTCACAGCCTAGCTTCTATTTACATTTGAAAATA
CAGATTTTTACCAACTTTGGATTCTTTTTTAGTTATATGTTTGTCTTTCCTTTTTAAATTGTTCAAAACTATTTTTTAATGGTCAAGTTACTAACACTTG
AAAATCAGATACTGCACCAAATACAGTGTTTTTCCGTAGTGTTTTTAATGAGTGCACCTATTACTACTGTGCGAGAATTCATGTTTTACCAGTCATTGTT
ATATTACAAACAGACTTGCATGATTAACCAGTTGTTACACTTACTTTTTCAAGTTGGAGTATATATGACTCAGTGCAGACTGGTCTCTCTTATGTGAATG
CACACATGCAGAAATGCAGAGTCAATTTTACATGCCCATAAAGACATTTGTAAAGAATTCAGCTCTTATGGTCTGTTGTATAAATGTGTATCTAGGCACT
TTATTATAGGAATTTGACCTCACAGATGTTACAACTTGATCAGTCGTTTGACCTAATTTGTGGTAGCTATCTGTATGTTTTGCAATCTTAATACAGACAT
GCTTTCCAAAAAGATTAATACAGAACCATCCTGCCGTTTTGGATAAGTCTATCCAGCTGTGGAAAGGGCAACCTGTGGTTTCTCTGTACTGGTGTTTAAT
GGGGGAAGAATATGAACAGCTTTAAAGAGCTGTGTATTGTGGTTACTACTATTAAAAAATAAGATCTGCACGAGTCTGACTGGCCTTTGGGTGGCCTTTG
TGGACGGCTCGTAGCTGGAAAGTGTTGATCTGGGTTTTCTGGCATTCTTTTAAGTTAAAAAGTTAACATCGGGACATGGGTTTGATCTTTTGTTGTACCT
GATGACAGTGCAGAGATTCTCCACAGCTGGATAAAAATGTCACAAAGCTACTTACTGTACATGGGCAGTATCAGATTTCAAATCCTAATATTTCAGCTGT
GCTTTTAATACTCAAAATATTAGGGGATGGGGTGTTGAAGCTTTCCCTTTTTTGCTTTTAACAATTTATAGAATTTAACAGATGTACTGTCTTTCATGTG
GCCTCACATTTAAAGTTATGAGAACATACACATGGTTTACAACTTTTACTATATACCTTTCCTTGGCCACCAAGTATTTTAAAAGTGTGCCACCTTTTAA
CCTTTACTTTTTTTAAGTTGAAGGTGATACTTTTTCTATATATGATGAAACTCATGTCAACTGAAGTGAGTGTAATCTCAGATATCAACATTATTATATT
TTAAAATCACGCTATGGAAATATCACCTGAATTCTGTCATTTGTCAGATTTACAGTACCTTTTTTTCTTTAACTTTTAGCATTAAATAAAAATAAAATTG
GGAGCACTG


Protein Sequence     (SEQ ID NO:263):
MPWAMIWDFTEPVCRGCVNYEGADRVEFVIETARQLKRAHGCFPEGRSPPGAAASAAAKPPPLSAKDILLQQQQQLGHGGPEAAPRAPQALERYPLAAAA
ERPPRLGSDFGSSRPAASLAQPPTPQPPPVNGILVPNGFSKLEEPPELNRQSPNPRRGHAVPPTLVPLMNGSATPLPTALGLGGRAAASLAAVSGTAAAS
LGSAQPTDLGAHKRPASVSSSAAVEHEQREAAAKEKQPPPPAHRGPADSLSTAAGAAELSAEGAGKSRGSGEQDWVNRPKTVRDTLLALHQHGHSGPFES
KFKKEPALTAGRLLGFEANGANGSKAVARTARKRKPSPEPEGEVGPPKINGEAQPWLSTSTEGLKIPMTPTSSFVSPPPPTASPHSNRTTPPEAAQNGQS
PMAALILVADNAGGSHASKDANQVHSTTRRNSNSPPSPSSMNQRRLGPREVGGQGAGNTGGLEPVHPASLPDSSLATSAPLCCTLCHERLEDTHFVQCPS
VPSHKFCFPCSRQSIKQQGASGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDS*



SNP Information


Context              (SEQ ID NO:532):
GCCGCCAGCCTGGGCTCCGCGCAGCCCACCGATCTGGGCGCCCACAAGCGGCCGGCATCCGTGTCGAGCAGCGCTGCCGTGGAGCACGAGCAGCGTGAGG
Y
GGCAGCCAAGGAGAAACAACCGCCGCCGCCTGCGCACCGGGGCCCGGCCGACAGCCTGTCCACCGCGGCCGGGGCCGCCGAGCTGAGCGCGGAAGGTGCG
Celera SNP ID:                hCV12003809
SNP Position Transcript:      734
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,60|T,32) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:263, 231,(A,GCG) (V,GTG)



Context              (SEQ ID NO:533):
GAACAGCAAGGAAAAGGAAGCCCTCTCCAGAACCAGAAGGTGAAGTCGGGCCCCCTAAGATCAACGGAGAGGCCCAGCCGTGGCTGTCCACATCCACAGA
R
GGGCTCAAGATCCCCATGACTCCTACATCCTCTTTTGTGTCTCCGCCACCACCCACTGCCTCACCTCATTCCAACCGGACCACACCGCCTGAAGCGGCCC
Celera SNP ID:                hCV3277066
SNP Position Transcript:      1128
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,18|A,14)  total(G,58|A,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 362,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,184|A,-) ; no_pop(G,22|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 362,(E,GAG) (E,GAA)



Context              (SEQ ID NO:534):
CGGGCAAGAGCCGCGGGTCTGGAGAGCAGGACTGGGTCAACAGGCCCAAGACCGTGCGCGACACGCTGCTGGCGCTGCACCAGCACGGCCACTCGGGGCC
Y
TTCGAGAGCAAGTTTAAGAAGGAGCCGGCCCTGACTGCAGGCAGGTTGTTGGGTTTCGAGGCCAACGGGGCCAACGGGTCTAAAGCAGTTGCAAGAACAG
Celera SNP ID:                hCV27469674
SNP Position Transcript:      933
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 297,(P,CCC) (P,CCT)



Context              (SEQ ID NO:535):
GGGCGCCGACCGCGTCGAGTTCGTCATCGAGACGGCGCGGCAGCTCAAGCGGGCGCACGGCTGCTTCCCGGAGGGTCGCTCCCCACCCGGCGCCGCGGCC
Y
CGGCCGCCGCCAAGCCGCCGCCGCTCTCCGCCAAGGACATCCTTTTGCAGCAGCAGCAGCAGCTTGGCCACGGCGGCCCCGAGGCGGCCCCGCGCGCGCC
Celera SNP ID:                hCV30590784
SNP Position Transcript:      205
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:263, 55,(S,TCG) (P,CCG)



Context              (SEQ ID NO:536):
GCAGTCATGCCTCAAAAGATGCCAACCAGGTTCACTCCACTACCAGGAGGAATAGCAACAGTCCGCCCTCTCCGTCCTCTATGAACCAAAGAAGGCTGGG
Y
CCCAGAGAGGTGGGGGGCCAGGGAGCAGGCAACACAGGAGGACTGGAGCCAGTGCACCCTGCCAGCCTCCCGGACTCCTCTCTGGCAACCAGTGCCCCGC
Celera SNP ID:                hCV25923542
SNP Position Transcript:      1383
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,24)  african american(T,3|C,17)  total(T,11|C,41)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 447,(G,GGC) (G,GGT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,4|C,32)  total(T,12|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 447,(G,GGC) (G,GGT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,20|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 447,(G,GGC) (G,GGT)



Context              (SEQ ID NO:537):
CTGGGTCAACAGGCCCAAGACCGTGCGCGACACGCTGCTGGCGCTGCACCAGCACGGCCACTCGGGGCCCTTCGAGAGCAAGTTTAAGAAGGAGCCGGCC
Y
TGACTGCAGGCAGGTTGTTGGGTTTCGAGGCCAACGGGGCCAACGGGTCTAAAGCAGTTGCAAGAACAGCAAGGAAAAGGAAGCCCTCTCCAGAACCAGA
Celera SNP ID:                hCV2711882
SNP Position Transcript:      964
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,75|T,17) ; no_pop(C,7|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 308,(L,CTG) (L,TTG)



Context              (SEQ ID NO:538):
AGGCCAACGGGGCCAACGGGTCTAAAGCAGTTGCAAGAACAGCAAGGAAAAGGAAGCCCTCTCCAGAACCAGAAGGTGAAGTCGGGCCCCCTAAGATCAA
Y
GGAGAGGCCCAGCCGTGGCTGTCCACATCCACAGAGGGGCTCAAGATCCCCATGACTCCTACATCCTCTTTTGTGTCTCCGCCACCACCCACTGCCTCAC
Celera SNP ID:                hCV3277065
SNP Position Transcript:      1092
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,15|C,21)  total(T,15|C,59)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 350,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 350,(N,AAC) (N,AAT)



Context              (SEQ ID NO:539):
GCAGCGCTGCCGTGGAGCACGAGCAGCGTGAGGCGGCAGCCAAGGAGAAACAACCGCCGCCGCCTGCGCACCGGGGCCCGGCCGACAGCCTGTCCACCGC
K
GCCGGGGCCGCCGAGCTGAGCGCGGAAGGTGCGGGCAAGAGCCGCGGGTCTGGAGAGCAGGACTGGGTCAACAGGCCCAAGACCGTGCGCGACACGCTGC
Celera SNP ID:                hCV8690047
SNP Position Transcript:      801
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:263, 253,(A,GCG) (A,GCT)



Context              (SEQ ID NO:540):
CCTTCTTAACATGTGTTTGAAATACCAAGTGAATAATACTGTTCTGGAAAAAAATGATAAACTAGTGGAAATTAAAGAAATTAAGGGTTTTATATAATAG
A
CAGGCCCCACCTCTCAAAATATTTTTAGAAGTCTTTTTGTAAACTAATTTCTTTTGATCACTATTTTGCATCAGTAAAATGATTTTTTTAAAACCAATAA
Celera SNP ID:                hCV26886217
SNP Position Transcript:      2994
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,9|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:541):
CTTCTTAACATGTGTTTGAAATACCAAGTGAATAATACTGTTCTGGAAAAAAATGATAAACTAGTGGAAATTAAAGAAATTAAGGGTTTTATATAATAGA
C
AGGCCCCACCTCTCAAAATATTTTTAGAAGTCTTTTTGTAAACTAATTTCTTTTGATCACTATTTTGCATCAGTAAAATGATTTTTTTAAAACCAATAAA
Celera SNP ID:                hCV26886216
SNP Position Transcript:      2995
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,9|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:542):
TTCTTAACATGTGTTTGAAATACCAAGTGAATAATACTGTTCTGGAAAAAAATGATAAACTAGTGGAAATTAAAGAAATTAAGGGTTTTATATAATAGAC
A
GGCCCCACCTCTCAAAATATTTTTAGAAGTCTTTTTGTAAACTAATTTCTTTTGATCACTATTTTGCATCAGTAAAATGATTTTTTTAAAACCAATAAAT
Celera SNP ID:                hCV26886215
SNP Position Transcript:      2996
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,9|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:543):
TCTTAACATGTGTTTGAAATACCAAGTGAATAATACTGTTCTGGAAAAAAATGATAAACTAGTGGAAATTAAAGAAATTAAGGGTTTTATATAATAGACA
G
GCCCCACCTCTCAAAATATTTTTAGAAGTCTTTTTGTAAACTAATTTCTTTTGATCACTATTTTGCATCAGTAAAATGATTTTTTTAAAACCAATAAATC
Celera SNP ID:                hCV26886214
SNP Position Transcript:      2997
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,9|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:544):
AGAATTCATGTTTTACCAGTCATTGTTATATTACAAACAGACTTGCATGATTAACCAGTTGTTACACTTACTTTTTCAAGTTGGAGTATATATGACTCAG
K
GCAGACTGGTCTCTCTTATGTGAATGCACACATGCAGAAATGCAGAGTCAATTTTACATGCCCATAAAGACATTTGTAAAGAATTCAGCTCTTATGGTCT
Celera SNP ID:                hCV26886200
SNP Position Transcript:      3574
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:545):
ATTTGTAAAGAATTCAGCTCTTATGGTCTGTTGTATAAATGTGTATCTAGGCACTTTATTATAGGAATTTGACCTCACAGATGTTACAACTTGATCAGTC
R
TTTGACCTAATTTGTGGTAGCTATCTGTATGTTTTGCAATCTTAATACAGACATGCTTTCCAAAAAGATTAATACAGAACCATCCTGCCGTTTTGGATAA
Celera SNP ID:                hCV3277068
SNP Position Transcript:      3746
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,51|A,41) ; no_pop(G,6|A,3) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:546):
TGACTGGCCTTTGGGTGGCCTTTGTGGACGGCTCGTAGCTGGAAAGTGTTGATCTGGGTTTTCTGGCATTCTTTTAAGTTAAAAAGTTAACATCGGGACA
K
GGGTTTGATCTTTTGTTGTACCTGATGACAGTGCAGAGATTCTCCACAGCTGGATAAAAATGTCACAAAGCTACTTACTGTACATGGGCAGTATCAGATT
Celera SNP ID:                hCV8690049
SNP Position Transcript:      4077
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,726|G,90) ; no_pop(T,6|G,2) ; no_pop(T,-|G,-) ; no_pop(T,97|G
,23)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Context              (SEQ ID NO:547):
GTGTGCCACCTTTTAACCTTTACTTTTTTTAAGTTGAAGGTGATACTTTTTCTATATATGATGAAACTCATGTCAACTGAAGTGAGTGTAATCTCAGATA
Y
CAACATTATTATATTTTAAAATCACGCTATGGAAATATCACCTGAATTCTGTCATTTGTCAGATTTACAGTACCTTTTTTTCTTTAACTTTTAGCATTAA
Celera SNP ID:                hCV2431560
SNP Position Transcript:      4485
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-) ; no_pop(T,80|C,25
6)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:263, None



Gene Number:                  3
Celera Gene:                  hCG14677 - 146000219471809
Celera Transcript:            hCT5698 - 146000219471810
Public Transcript Accession:  NM_004415
Celera Protein:               hCP35698 - 197000064923624
Public Protein Accession:     NP_004406
Gene Symbol:                  DSP
Protein Name:                  desmoplakin
Celera Genomic Axis:          GA_x5YUV32VT9V(7160878..7217826)
Chromosome:                   6
OMIM NUMBER:                  125647
OMIM Information:             Keratosis palmoplantaris striata II (3); Dilated cardiomyopathy/with w
oolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Sk
in fragility-woolly hair syndrome, 607655 (3)



Transcript Sequence  (SEQ ID NO:3):
CCGACCAACACCAACACCCAGCTCCGACGCAGCTCCTCTGCGCCCTTGCCGCCCTCCGAGCCACAGCTTTCCTCCCGCTCCTGCCCCCGGCCCGTCGCCG
TCTCCGCGCTCGCAGCGGCCTCGGGAGGGCCCAGGTAGCGAGCAGCGACCTCGCGAGCCTTCCGCACTCCCGCCCGGTTCCCCGGCCGTCCGCCTATCCT
TGGCCCCCTCCGCTTTCTCCGCGCCGGCCCGCCTCGCTTATGCCTCGGCGCTGAGCCGCTCTCCCGATTGCCCGCCGACATGAGCTGCAACGGAGGCTCC
CACCCGCGGATCAACACTCTGGGCCGCATGATCCGCGCCGAGTCTGGCCCGGACCTGCGCTACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGT
ACTATTCTCGGCGCGGCGTGATCACCGACCAGAACTCGGACGGCTACTGTCAAACCGGCACGATGTCCAGGCACCAGAACCAGAACACCATCCAGGAGCT
GCTGCAGAACTGCTCCGACTGCTTGATGCGAGCAGAGCTCATCGTGCAGCCTGAATTGAAGTATGGAGATGGAATACAACTGACTCGGAGTCGAGAATTG
GATGAGTGTTTTGCCCAGGCCAATGACCAAATGGAAATCCTCGACAGCTTGATCAGAGAGATGCGGCAGATGGGCCAGCCCTGTGATGCTTACCAGAAAA
GGCTTCTTCAGCTCCAAGAGCAAATGCGAGCCCTTTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCTCCAAGGGTGGTGGAGGCTACACTTG
TCAGAGTGGCTCTGGCTGGGATGAGTTCACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAGGCAGCAAAGGGCGGAGATGGACATGGTGGCCTGG
GGTGTGGACCTGGCCTCAGTGGAGCAGCACATTAACAGCCACCGGGGCATCCACAACTCCATCGGCGACTATCGCTGGCAGCTGGACAAAATCAAAGCCG
ACCTGCGCGAGAAATCTGCGATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAA
CATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAG
AAACAGGAGGCCTTCTCCATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCTCAATCAGC
ATCCAGCTTCAGACAAAATTGAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGA
AAATGCTGCCTACTTTCAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCTGCGACAAG
AACATGCCCCTGCAGCACCTGCTGGAACAGATCAAGGAGCTGGAGAAAGAACGAGAGAAAATCCTTGAATACAAGCGTCAGGTGCAGAACTTGGTAAACA
AGTCTAAGAAGATTGTACAGCTGAAGCCTCGTAACCCAGACTACAGAAGCAATAAACCCATTATTCTCAGAGCTCTCTGTGACTACAAACAAGATCAGAA
AATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGACGGGCCCGGGAGGCGTTGACATGCTTGTTCCCTCT
GTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGATTGAGCAGTACTACGAAGCCATCTTGGCTCTGTGGAACCAGCTCT
ACATCAACATGAAGAGCCTGGTGTCCTGGCACTACTGCATGATTGACATAGAGAAGATCAGGGCCATGACAATCGCCAAGCTGAAAACAATGCGGCAGGA
AGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAAATAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAA
ATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTCCCTGGCTATCCCCAGCACCAGACAGTGACCACAACTGAAATCA
CTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAGCAAGAAACATGGATGCTGATGGAGCTGCAGAA
GATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATCTTCTCACCACATCACAGTGAAAATTAAC
GAGCTTAAGAGTGTGCAGAATGATTCACAAGCAATTGCTGAGGTTCTCAACCAGCTTAAAGATATGCTTGCCAACTTCAGAGGTTCTGAAAAGTACTGCT
ATTTACAGAATGAAGTATTTGGACTATTTCAGAAACTGGAAAATATCAATGGTGTTACAGATGGCTACTTAAATAGCTTATGCACAGTAAGGGCACTGCT
CCAGGCTATTCTCCAAACAGAAGACATGTTAAAGGTTTATGAAGCCAGGCTCACTGAGGAGGAAACTGTCTGCCTGGACCTGGATAAAGTGGAAGCTTAC
CGCTGTGGACTGAAGAAAATAAAAAATGACTTGAACTTGAAGAAGTCGTTGTTGGCCACTATGAAGACAGAACTACAGAAAGCCCAGCAGATCCACTCTC
AGACTTCACAGCAGTATCCACTTTATGATCTGGACTTGGGCAAGTTCGGTGAAAAAGTCACACAGCTGACAGACCGCTGGCAAAGGATAGATAAACAGAT
CGACTTTAGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAATTATCGTGATAACTATCAGGCTTTCTGCAAGTGGCTCTATGATGCTAAACGC
CGCCAGGATTCCTTAGAATCCATGAAATTTGGAGATTCCAACACAGTCATGCGGTTTTTGAATGAGCAGAAGAACTTGCACAGTGAAATATCTGGCAAAC
GAGACAAATCAGAGGAAGTACAAAAAATTGCTGAACTTTGCGCCAATTCAATTAAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAAC
TCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCCCTTCTGGGGTGATTCTGCAAGAGGCTGCAGATGTTCATGCTCGGTACATTGAACTACTT
ACAAGATCTGGAGACTATTACAGGTTCTTAAGTGAGATGCTGAAGAGTTTGGAAGATCTGAAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGC
TCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGC
GAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTC
AATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACC
AACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTT
GAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGG
AACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATA
GACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGC
CCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCC
CGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCC
GCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAA
GACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAA
GAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGT
CTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAA
AACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTA
CAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCG
ACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGA
AGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAG
CAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGG
ATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAG
TGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAG
TCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAG
CGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACA
GAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAG
GTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAAT
CAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAA
GGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAG
AGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATA
AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAA
GGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAA
ATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCA
GCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGC
TCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTT
TCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTG
TCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGA
TCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGC
ATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGA
TTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCAT
TTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAAC
TTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATG
ATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAAC
CGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGAT
CCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGC
TCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAA
TAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACC
ATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACA
GGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGG
CAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGC
TCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCA
TCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGC
AGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATG
TCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAG
TGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCT
GACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCC
GTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGT
CCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTC
AGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGA
CATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACT
TGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTC
TTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTC
CATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTC
AGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAG
TTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTG


Protein Sequence     (SEQ ID NO:264):
MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTGTMSRHQNQNTIQELLQNCSDCLMRAELIVQPELKYGDGIQ
LTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQKRLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRA
EMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKADLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSWILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIR
KKYPCDKNMPLQHLLEQIKELEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGDECILKDNNERSKWYVTGPGG
VDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSH
HITVKINELKSVQNDSQAIAEVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQTEDMLKVYEARLTEEETVCLD
LDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKDYELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVH
ARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEELRLARDANSENCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKC
YGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYDQLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSILQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQ
QRSEDNARHKQSLEEAAKTIQDKNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTR
ENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEVSQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEG
MRRSLKEQAIKITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHLRNEHFQKAIEDKSRSLNESK
IEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATILELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIE
RLQAEIKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKS
VEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLL
LSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGF
IVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQE
CEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVR
NLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERGIVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGL
RLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH*



SNP Information


Context              (SEQ ID NO:548):
TGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAG
S
GACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAA
Celera SNP ID:                hCV27859853
SNP Position Transcript:      1176
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 299,(S,AGC) (R,AGG)



Context              (SEQ ID NO:549):
TGGAGCAGCACATTAACAGCCACCGGGGCATCCACAACTCCATCGGCGACTATCGCTGGCAGCTGGACAAAATCAAAGCCGACCTGCGCGAGAAATCTGC
K
ATCTACCAGTTGGAGGAGGAGTATGAAAACCTGCTGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCA
Celera SNP ID:                hCV15858679
SNP Position Transcript:      1020
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 247,(A,GCG) (A,GCT)



Context              (SEQ ID NO:550):
GTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTAC
S
GCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACA
Celera SNP ID:                hCV16245553
SNP Position Transcript:      3583
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1102,(G,GGC) (R,CGC)



Context              (SEQ ID NO:551):
AAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAA
M
AAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCC
Celera SNP ID:                hCV25631723
SNP Position Transcript:      4857
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1526,(N,AAC) (K,AAA)



Context              (SEQ ID NO:552):
GGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGG
Y
TGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGT
Celera SNP ID:                hCV25631711
SNP Position Transcript:      6190
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|T,0)  african american(C,36|T,2)  total(C,74|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 1971,(L,CTG) (L,TTG)



Context              (SEQ ID NO:553):
CCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCAC
R
GGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCG
Celera SNP ID:                hCV25631700
SNP Position Transcript:      8274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,35)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2665,(T,ACG) (T,ACA)



Context              (SEQ ID NO:554):
CCAGCACCAGACAGTGACCACAACTGAAATCACTCATCATGGAACCTGCCAAGATGTCAACCATAATAAAGTAATTGAAACCAACAGAGAAAATGACAAG
Y
AAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGG
Celera SNP ID:                hCV27528457
SNP Position Transcript:      2269
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:264, 664,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:555):
AGTATGAAAACCTGCTGAAAGCGTCCTTTGAGAGGATGGATCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAA
K
GACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCATACGCATGAGTCAACTGGAAG
Celera SNP ID:                hCV27531182
SNP Position Transcript:      1140
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 287,(N,AAT) (K,AAG)



Context              (SEQ ID NO:556):
CTGGAGCGACAAGAACACCAACATCGCTCAGAAACAGGAGGCCTTCTCCATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAA
Y
AAGAAAGTGACCAACTTGTCCTCAATCAGCATCCAGCTTCAGACAAAATTGAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGAT
Celera SNP ID:                hCV620790
SNP Position Transcript:      1270
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:264, 331,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:557):
AGCAGTATCCACTTTATGATCTGGACTTGGGCAAGTTCGGTGAAAAAGTCACACAGCTGACAGACCGCTGGCAAAGGATAGATAAACAGATCGACTTTAG
R
TTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAATTATCGTGATAACTATCAGGCTTTCTGCAAGTGGCTCTATGATGCTAAACGCCGCCAGGATT
Celera SNP ID:                hCV8847835
SNP Position Transcript:      2910
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 877,(R,AGA) (R,AGG)



Context              (SEQ ID NO:558):
AGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGAC
R
AAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAAT
Celera SNP ID:                hCV22275219
SNP Position Transcript:      5492
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,7|G,33)  african american(A,8|G,24)  total(A,15|G,57)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1738,(R,CGA) (Q,CAA)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1738,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:559):
GCTGCAGAACATCATTCAGGCCACGTCCAGGGAGATCATGTGGATCAATGACTGCGAGGAGGAGGAGCTGCTGTACGACTGGAGCGACAAGAACACCAAC
W
TCGCTCAGAAACAGGAGGCCTTCTCCATACGCATGAGTCAACTGGAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAGTGACCAACTTGTCCT
Celera SNP ID:                hCV25631694
SNP Position Transcript:      1192
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|T,2)  african american(A,38|T,0)  total(A,76|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 305,(I,ATC) (F,TTC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 305,(I,ATC) (F,TTC)



Context              (SEQ ID NO:560):
AGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCG
M
TTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCC
Celera SNP ID:                hCV25631701
SNP Position Transcript:      8454
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,35)  african american(A,0|C,22)  total(A,3|C,57)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2725,(R,CGC) (R,CGA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2725,(R,CGC) (R,CGA)



Context              (SEQ ID NO:561):
AAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGT
R
TGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTT
Celera SNP ID:                hCV16167920
SNP Position Transcript:      4814
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1512,(Y,TAT) (C,TGT)



Context              (SEQ ID NO:562):
TCAATCAGCATCCAGCTTCAGACAAAATTGAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCA
Y
CTGAAAGAAAATGCTGCCTACTTTCAGTTTTTTGAAGAGGCGCAGTCTACTGAAGCATACCTGAAGGGGCTCCAGGACTCCATCAGGAAGAAGTACCCCT
Celera SNP ID:                hCV25631686
SNP Position Transcript:      1392
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,40)  african american(C,1|T,35)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 371,(H,CAT) (H,CAC)



Context              (SEQ ID NO:563):
CGCGGATCAACACTCTGGGCCGCATGATCCGCGCCGAGTCTGGCCCGGACCTGCGCTACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTACTA
Y
TCTCGGCGCGGCGTGATCACCGACCAGAACTCGGACGGCTACTGTCAAACCGGCACGATGTCCAGGCACCAGAACCAGAACACCATCCAGGAGCTGCTGC
Celera SNP ID:                hCV25921568
SNP Position Transcript:      405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|T,24)  african american(C,2|T,28)  total(C,6|T,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 42,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:564):
CTATTCTCCAAACAGAAGACATGTTAAAGGTTTATGAAGCCAGGCTCACTGAGGAGGAAACTGTCTGCCTGGACCTGGATAAAGTGGAAGCTTACCGCTG
W
GGACTGAAGAAAATAAAAAATGACTTGAACTTGAAGAAGTCGTTGTTGGCCACTATGAAGACAGAACTACAGAAAGCCCAGCAGATCCACTCTCAGACTT
Celera SNP ID:                hCV27861863
SNP Position Transcript:      2706
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:264, 809,(C,TGT) (*,TGA)



Context              (SEQ ID NO:565):
AAGAAACATGGATGCTGATGGAGCTGCAGAAGATTCGCAGGCAGATAGAGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGG
R
TCTTCTCACCACATCACAGTGAAAATTAACGAGCTTAAGAGTGTGCAGAATGATTCACAAGCAATTGCTGAGGTTCTCAACCAGCTTAAAGATATGCTTG
Celera SNP ID:                hCV3003773
SNP Position Transcript:      2370
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,28)  african american(A,9|G,29)  total(A,21|G,57)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 697,(G,GGA) (G,GGG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,14|G,4) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 697,(G,GGA) (G,GGG)



Context              (SEQ ID NO:566):
ACACAGTCATGCGGTTTTTGAATGAGCAGAAGAACTTGCACAGTGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAAAAATTGCTGAACTTTG
Y
GCCAATTCAATTAAGGATTATGAGCTCCAGCTGGCCTCATACACCTCAGGACTGGAAACTCTGCTGAACATACCTATCAAGAGGACCATGATTCAGTCCC
Celera SNP ID:                hCV3003769
SNP Position Transcript:      3141
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,8)  african american(C,24|T,14)  total(C,56|T,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 954,(C,TGC) (C,TGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2586|T,574) ; no_pop(C,20|T,6) ; no_pop(C,-|T,-) ; no_pop(C,4
68|T,204)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 954,(C,TGC) (C,TGT)



Context              (SEQ ID NO:567):
GCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGG
S
TCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCT
Celera SNP ID:                hCV15921718
SNP Position Transcript:      8751
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2824,(G,GGC) (G,GGG)



Context              (SEQ ID NO:568):
AGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCA
R
GACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATT
Celera SNP ID:                hCV25631724
SNP Position Transcript:      4242
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,36)  total(A,1|G,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 1321,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:569):
ATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAG
Y
GATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACA
Celera SNP ID:                hCV25631709
SNP Position Transcript:      8013
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2578,(S,AGC) (S,AGT)



Context              (SEQ ID NO:570):
ATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAAC
Y
GGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATC
Celera SNP ID:                hCV3003761
SNP Position Transcript:      7401
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2302|T,238) ; no_pop(C,22|T,2) ; no_pop(C,-|T,-) ; no_pop(C,1
710|T,342) ; no_pop(C,150|T,90)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2374,(T,ACC) (T,ACT)



Context              (SEQ ID NO:571):
ACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAA
K
CAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTG
Celera SNP ID:                hCV16245554
SNP Position Transcript:      3561
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1094,(K,AAG) (N,AAT)



Context              (SEQ ID NO:572):
ATCAGGGCCATGACAATCGCCAAGCTGAAAACAATGCGGCAGGAAGATTACATGAAGACGATAGCCGACCTTGAGTTACATTACCAAGAGTTCATCAGAA
R
TAGCCAAGGCTCAGAGATGTTTGGAGATGATGACAAGCGGAAAATACAGTCTCAGTTCACCGATGCCCAGAAGCATTACCAGACCCTGGTCATTCAGCTC
Celera SNP ID:                hCV25631677
SNP Position Transcript:      2057
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 593,(N,AAT) (S,AGT)



Context              (SEQ ID NO:573):
GGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACA
M
CAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTG
Celera SNP ID:                hCV25631699
SNP Position Transcript:      8579
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 2767,(T,ACC) (N,AAC)



Context              (SEQ ID NO:574):
TCAGAGCTCTCTGTGACTACAAACAAGATCAGAAAATCGTGCATAAGGGGGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGTGGTACGTGAC
R
GGCCCGGGAGGCGTTGACATGCTTGTTCCCTCTGTGGGGCTGATCATCCCTCCTCCGAACCCACTGGCCGTGGACCTCTCTTGCAAGATTGAGCAGTACT
Celera SNP ID:                hCV25631685
SNP Position Transcript:      1767
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,38)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 496,(T,ACG) (T,ACA)



Context              (SEQ ID NO:575):
ATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGC
Y
TCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATG
Celera SNP ID:                hCV25921968
SNP Position Transcript:      6669
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,34)  african american(C,0|T,32)  total(C,2|T,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:264, 2130,(A,GCT) (A,GCC)



Context              (SEQ ID NO:576):
AGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATT
Y
GCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGA
Celera SNP ID:                hCV27531183
SNP Position Transcript:      7375
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 2366,(R,CGC) (C,TGC)



Context              (SEQ ID NO:577):
GACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGA
K
AGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTG
Celera SNP ID:                hCV3003763
SNP Position Transcript:      5603
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,9|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 1775,(R,AGA) (I,ATA)



Context              (SEQ ID NO:578):
TCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACC
S
GGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCC
Celera SNP ID:                hCV32386224
SNP Position Transcript:      7402
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:264, 2375,(G,GGG) (R,CGG)



Context              (SEQ ID NO:579):
GTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAG
Y
AGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTG
Celera SNP ID:                hCV8847834
SNP Position Transcript:      9092
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,8)  african american(C,27|T,11)  total(C,59|T,19)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:264, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,134|T,50) ; no_pop(C,24|T,2) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:264, None



Context              (SEQ ID NO:580):
TTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATC
M
CTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAAC
Celera SNP ID:                hCV8847824
SNP Position Transcript:      9261
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:264, None



Gene Number:                  4
Celera Gene:                  hCG15867 - 208000027658692
Celera Transcript:            hCT2253551 - 208000027658693
Public Transcript Accession:  NM_152551
Celera Protein:               hCP1790985 - 208000027658690
Public Protein Accession:     NP_689764
Gene Symbol:                  C6orf151
Protein Name:                  chromosome 6 open reading frame 151
Celera Genomic Axis:          GA_x5YUV32VT9V(7209452..7243116)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:4):
AGAGGCCTGCGCGTGCGGTCTGCAGTTCGGCCGCTTCCTCTTGGCGGGTGGGCTGCAGCTATGGAGGGCGAGCCTCCACCTGTGGAGGAGCGGCGGCGGC
TGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGA
AGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTG
AGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGTATAATCCTGAGTTTTTCTATGAAAATGTGAAGATACCTTCGATTACTTTGAATAAGGACT
CACAATTCCAGATAATTAAACAAGCTAGAACTGCAGTTGGGAAAGACAGTGATTGTTATAATCAAAGAATTTATTCTTCATTGCCTGTTGAAGTTCCTTT
GAATCACAAACGGTTTGTTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAA
ATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAG
AAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTGATTCGAGATGTGATAAATGT
GCACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCA
CGGCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATA
AAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACTTGTACCTATA
TTAATTATGCTTACGCCATGATAACCAATATACAGATATATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGCTTATTATTT
TTTTTATGATCTGTTTAGTGCTTATTATTTTCCAGTAAATATGCTTCAAACCATGAGTACACTATTAGGCCCTACAACTTTGTTTTCCTTATATTTTATT
AGATGATTTGCTTCCTATAACTGATGTTGTTTTGTTCGTTTTGCTAATATATGTATCTCAAAATTCTTTAAGTCAATATTTATCATATGTAAATTAAACA
TGAATACATTCTCATCTTATAACTACATCTTATAAATAAGGCTAATAACCCTTAGAACACCACCTGCGGTTCTGTCCTCACCCCAGTGGCGACTACTGTT
TACCACTACACTGGTGAATTGTAGTAGGGAAAAACAATCTAAATATTGAAGAGGAATGGCCTAATTAAAATATGATGTAGTCATAGGATAGATTATTGTA
TTGGAGTTAAAAGAAATAATCTAGATCCATATTAACCTGGATTGGTCTCAAAAACATAATGCTCAGTGAAAATAGCAAGTTGTAGAAAGTTATATACAAA
TTATATATATGTACAAAACAATACTATGCATTCTCTATGGCTATATAATGTACGTAAATCTATTTTTAAAGGTTCAGAGGAATCCATACCAAAGTTCTAA
CAGCGAGTAGGAGGTATAGATGAGAGATTAGGGGTGCAAATCAGGATTGGGAGGGTGGTCAGAGGGAACTTTAGCTTTATCCATAACATTAATTTTTTTA
AAAAATAAGGTCTTAATGTTTCATTTAATTTAAAATATACTGTCATGTTGTGTTTTGTAAATCAACTGAATTGAGGTACTATTTACTTAGATTTATTGCA
CCCTTTTTACGTGTGTATTTTATTGGGTTTTGACAGATTCATACCTCTGTGCAGCCACTATCACGATCAAGATACAAATATTTTCATTGCCCCCAAAATT
CTCATACCCCCTTTCCCAATCAATTCCTCTACCCCTAGCCCTAGGCAGCCACAGATTTGCTTTTGGTTACCGATTAGATCTATCCATTGTAGAATTCATG
TAAATAGAATACTGTAGTATGTACTTTGCCTTCTTCCTCTCTGCAGATTTTTGAGATTGATCCCTGTGTGTCAGTTGTGCATTTTTTTTGTTGCTGAGTA
GTATGTTCTATCTTATGTCAGATCATTCACGTGAGACTTTGGCATGAAATGTTAAGCATCCGACATCTAAATAGCAATATTTTGAATACTGGAAACTCAG
GTTAAAGATTTTGTTTCCAAGTAGAAATGAAATCTTATTATTTTAATAAGTAGCTGACAGTGACAGAAAGATTGGATTTGGATCAGATTGGCTGTTAGGC
TTCAGGTATGGGAAACAGCTCTCAGATTTATAAATTGGAAATCACCAGGTTACTTGCCAATATATAGTCATATTGCTGCCATTGTACTTAATTTCTAAAT
ATATAAAATCCACATTTAAAAATTATAAAAGCAAGGACTTGGGAGTGACTGATGAATCATGAAATTGCTGCTTTTATAGATCAAAACTACTTGAATCATC
AGGAATTTCATATTTTTCATATTGTGTGACAACTTATAATTTTGTTTCAAATTGTGATTTCATTGATTTTACTAACTGGAAGGAAGAAGAGTAAAATTGG
CATATTTAGGTTTTTTGTAGAAGAAAGATACAAGTGAAAATTAGGAGTGGATTGGAGAAATTGGGGGGAAATAGAAGAGTACGGAGAAAGGAAGAGATTG
AAAATGTTACCAGAGTTCTTTAAAGCTCACATTTTATAGTATCACTGCTACAAACTATTTAATGAAATGTGGCATCGGGTGAAAAGAGGCATTTGTTTGA
TCCTTGAACGAATTAATCTCACGTACTTCCCTGTTTGTGGTTTGAGCCTTTCACTGGATGTGAGCTACTTGAGAGCAGGGTTTATGCCTTCATCAGCGTG
ACCCCTGTGCCTGCAGCCTCATAGGTGTTAATCTGTAATTTTAAATTTTGACAAAAGCATTTTCACAGCCCTGCCACATAAGATCTAGTTTTTATTTCTA
GAGTGCTGCTATGAATAATTACTATAGCTGCTGTCCATCTTGCCCATCCATTAAGGTACCTTCTCACAAACATTTCTAATCTACTGGCTGGAGTGCAGTG
GTGCAGTCTGTAGCTCACTGCAGCCTCAAACTCCTAGGCTCAGGCGATCCTCTTGCCCTGGCCTCCCATGTAGCTGCAACTATAGGTGTGTGCCACTACA
CCTGGCTAATGTTTTTAGTTTTTTAGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGTCTTGAACTCCTGGGCTCAGATGATCCTCCTGTCCTCAGCCTC
CCAAAATGCTGGGAGCCACCAGGCACCAGGTGTGATCTACCACACCTGTCTAAAAAGTATGTATTTTTAAATTTTTTTGTAGAGACAGGATCTCACTATG
TTCTCCAGCTGGTCTCAAGCTCCTGGCCTCGGCCTCCTAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTAGTCACTTTAATTGAGATATTGGCAA
GTCAACTGCCATGCAGAGCCCAGGGCACTGGTTATATTCAGTAGGAAACTGAACTCAGCACTCAGAATTTTAAATTAAATCAATGATCTTCAAGTATTTG
CCACTTTCGAGTACAGCTAATTGGATAATCTCAAACCCTTTAGTGAAAATATCTTAAATGCATTGAGAATATTTTCTAATTACCTGTGTATGCTACAGTA
CAGACATTAATTCTATAAACATGTTCATAGGTCTTCCCCCTCGCCCCGCCCGTCTTCTAAGGGCATTTTCTGTTTCTTTTTAGTGAGTTCATGAATGTTT
AACGGTTCTGGCGCAAAGCTTTCTTGCATTCTGAGCATAAAAATAATAAAACCCACTTATATTTGCTTG


Protein Sequence     (SEQ ID NO:265):
MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFY
ENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDN
SRKSPKSYLEILAEVRDYKRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRS
RSPHKRKRNKDKDKNCESRRRKERDGERHHSHKRRKQKI*



SNP Information


Context              (SEQ ID NO:581):
TTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAG
Y
GATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAA
Celera SNP ID:                hCV1339620
SNP Position Transcript:      618
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,8)  african american(C,29|T,5)  total(C,53|T,13)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 186,(S,AGC) (S,AGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,972|T,848) ; no_pop(C,10|T,2) ; no_pop(C,-|T,-) ; no_pop(C,17
12|T,1056)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 186,(S,AGC) (S,AGT)



Context              (SEQ ID NO:582):
AGCGGCGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCT
R
GATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCAT
Celera SNP ID:                hCV29334866
SNP Position Transcript:      189
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 43,(L,CTG) (L,CTA)



Context              (SEQ ID NO:583):
GGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATA
Y
GATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTGAGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGT
Celera SNP ID:                hCV25632095
SNP Position Transcript:      240
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 60,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 60,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:584):
ATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGA
Y
AATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAA
Celera SNP ID:                hCV1339617
SNP Position Transcript:      657
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,1)  african american(C,28|T,8)  total(C,63|T,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 199,(D,GAC) (D,GAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:265, 199,(D,GAC) (D,GAT)



Context              (SEQ ID NO:585):
CGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATC
Y
CGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGT
Celera SNP ID:                hCV3003757
SNP Position Transcript:      194
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,14|T,2) ; no_pop(C,-|T,-) ; no_pop(C,1164|T
,260) ; no_pop(C,148|T,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:265, 45,(P,CCC) (L,CTC)



Context              (SEQ ID NO:586):
CACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCAC
R
GCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAA
Celera SNP ID:                hCV27491293
SNP Position Transcript:      902
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:265, 281,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:587):
GATAAGGATAAAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACT
Y
GTACCTATATTAATTATGCTTACGCCATGATAACCAATATACAGATATATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGC
Celera SNP ID:                hCV8847823
SNP Position Transcript:      1091
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,4|C,88) ; no_pop(T,-|C,-) ; no_pop(T,107|C,13)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:588):
GAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACTTGTACCTATATTAATTATGCTTA
Y
GCCATGATAACCAATATACAGATATATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGCTTATTATTTTTTTTATGATCTGT
Celera SNP ID:                hCV29334870
SNP Position Transcript:      1114
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:589):
TAAATTAAACATGAATACATTCTCATCTTATAACTACATCTTATAAATAAGGCTAATAACCCTTAGAACACCACCTGCGGTTCTGTCCTCACCCCAGTGG
Y
GACTACTGTTTACCACTACACTGGTGAATTGTAGTAGGGAAAAACAATCTAAATATTGAAGAGGAATGGCCTAATTAAAATATGATGTAGTCATAGGATA
Celera SNP ID:                hCV1339607
SNP Position Transcript:      1490
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,25|C,67) ; no_pop(T,8|C,8) ; no_pop(T,-|C,-) ; no_pop(T,196|C
,500)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:590):
GTCTTAATGTTTCATTTAATTTAAAATATACTGTCATGTTGTGTTTTGTAAATCAACTGAATTGAGGTACTATTTACTTAGATTTATTGCACCCTTTTTA
M
GTGTGTATTTTATTGGGTTTTGACAGATTCATACCTCTGTGCAGCCACTATCACGATCAAGATACAAATATTTTCATTGCCCCCAAAATTCTCATACCCC
Celera SNP ID:                hCV1339606
SNP Position Transcript:      2010
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,6|A,2) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:591):
CCGACATCTAAATAGCAATATTTTGAATACTGGAAACTCAGGTTAAAGATTTTGTTTCCAAGTAGAAATGAAATCTTATTATTTTAATAAGTAGCTGACA
R
TGACAGAAAGATTGGATTTGGATCAGATTGGCTGTTAGGCTTCAGGTATGGGAAACAGCTCTCAGATTTATAAATTGGAAATCACCAGGTTACTTGCCAA
Celera SNP ID:                hCV1339605
SNP Position Transcript:      2460
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,4) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:592):
TTGAATCATCAGGAATTTCATATTTTTCATATTGTGTGACAACTTATAATTTTGTTTCAAATTGTGATTTCATTGATTTTACTAACTGGAAGGAAGAAGA
R
TAAAATTGGCATATTTAGGTTTTTTGTAGAAGAAAGATACAAGTGAAAATTAGGAGTGGATTGGAGAAATTGGGGGGAAATAGAAGAGTACGGAGAAAGG
Celera SNP ID:                hCV8847822
SNP Position Transcript:      2791
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,14|G,78) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:593):
CACTGCTACAAACTATTTAATGAAATGTGGCATCGGGTGAAAAGAGGCATTTGTTTGATCCTTGAACGAATTAATCTCACGTACTTCCCTGTTTGTGGTT
K
GAGCCTTTCACTGGATGTGAGCTACTTGAGAGCAGGGTTTATGCCTTCATCAGCGTGACCCCTGTGCCTGCAGCCTCATAGGTGTTAATCTGTAATTTTA
Celera SNP ID:                hCV8847815
SNP Position Transcript:      3043
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:594):
TGCTGTCCATCTTGCCCATCCATTAAGGTACCTTCTCACAAACATTTCTAATCTACTGGCTGGAGTGCAGTGGTGCAGTCTGTAGCTCACTGCAGCCTCA
R
ACTCCTAGGCTCAGGCGATCCTCTTGCCCTGGCCTCCCATGTAGCTGCAACTATAGGTGTGTGCCACTACACCTGGCTAATGTTTTTAGTTTTTTAGAGA
Celera SNP ID:                hCV15858648
SNP Position Transcript:      3329
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Context              (SEQ ID NO:595):
TCTATAAACATGTTCATAGGTCTTCCCCCTCGCCCCGCCCGTCTTCTAAGGGCATTTTCTGTTTCTTTTTAGTGAGTTCATGAATGTTTAACGGTTCTGG
Y
GCAAAGCTTTCTTGCATTCTGAGCATAAAAATAATAAAACCCACTTATATTTGCTTG
Celera SNP ID:                hCV8847814
SNP Position Transcript:      4012
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:265, None



Gene Number:                  4
Celera Gene:                  hCG15867 - 208000027658692
Celera Transcript:            hCT2344888 - 208000027658707
Public Transcript Accession:  NM_152551
Celera Protein:               hCP1910173 - 208000027658688
Public Protein Accession:     NP_689764
Gene Symbol:                  C6orf151
Protein Name:                  chromosome 6 open reading frame 151
Celera Genomic Axis:          GA_x5YUV32VT9V(7209452..7243116)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:5):
AGAGGCCTGCGCGTGCGGTCTGCAGTTCGGCCGCTTCCTCTTGGCGGGTGGGCTGCAGCTATGGAGGGCGAGCCTCCACCTGTGGAGGAGCGGCGGCGGC
TGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGA
AGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTG
AGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGTATAATCCTGAGTTTTTCTATGAAAATGTGAAGATACCTTCGATTACTTTGAATAAGGACT
CACAATTCCAGATAATTAAACAAGCTAGAACTGCAGTTGGGAAAGACAGTGATTGTTATAATCAAATAATTGGGGTGAGTATAAAGAGGAATTAGGAACC
TGAATGTACTCCTTATTTAAAGATATGCAGTATCCTTTTTGCAAATGATATCCTTTTAAAAGTAAAATTTCTAAACTTTATCTTAATACCTGTCACATAT
TATAGTCTTGAATTGGAATTTTGGTTGAATTACAAGGAATTTAAGTATCAGTCTTCATCATAAAGAAATTTAAGATGAATAAATTGAAGAAAAGGCTAAA
ATAATTTAAGAAGGAAATTATATTTCTTTGTTTAAAAATAACAGGCAAAGGTTTATATGAAGCTTGTTTGTAATACATCATTATTTTCTAATCTGTGTTT
TCCTCCCAAATTTTTATAGCCTAATTCAAAGGAATTAGGCTTATCAAAGCTGTTTTTATAATTTTGTATTATGAAATGCCTACTATAATTAGAATAAAAT
TGATTGACTTGAAAGGGAACCCTTTTTTCCCCATTAATTCAAAACCCTTTGACGAGTAAAAATGGCCATATATTGTTATGTATAGCCGTGTTAAACCATG
GCCTCAGATTCACTGCAGCTCTCCTCTTAATATGTAGACAAGTAGTACCTCTTTTTTGTTGTAATGCTTAGTTCATAGTATGCTCTTATTTGAATTCTTT
TTGCCTCTACCTAGGAACTTAATGAGGTTAGACTTTATCAAATATAAGTATCTGGAAAGAGCTACTGATTTTATGTTGTTCTATGAACCAGTTACTACTT
TAGAATAAGTTAGCAAACAATAAAAGGATTCCTTTAGTAGCTCATGTTCTTTGTTTGCATTAGTGAGTAATGAAGTCTAGAAAGAATTGTTTTAAATTGC
TTTTTTTACAGTTCCAATCATTTTTTTATTTGAGAAAATTTGAATCTCAAAACAAAAATTTTCTTCAATGTTTAATACATCATATCAAGGTATTGTATTT
ACTTTTTTTCACTAATGAGCAGATTTTAGAAAATTCTGTAACTACCGGGGGGCACTGCTATTAACTTTTTTCAATTAATTTGGTTAAGCCACTATGCTTC
CTCCTCAGGAAATTAAAATGAGTTTAATTTAATCTGTGCTTTCCTGGCGTGAGGAGGTGTGGGATTTCTGCTACTTAATTATTTTGTGGCCCCTAGCTCT
AAGTCCTTGCACAAGTGGGATATATTTTGAATATTGACCATCTAGCTTGATGTCTCATACAAAAAGATATTTTTTACACAGTTTTTAATATTTCCATAGT
TTATTTTCAAAGGGACTGTAATGCATATTACTTATTAAAAGCATTTTTTCCCCCAACTTTGATGGGGAAAAGCATATCAACAGATACCTACTTTTGTAGA
TGGCTATAAAAATTGTTACCCAAAAGGCTTTCTTAGAGCAAATTGTCTCTTATGATTATTCCTGCCTGCCTCCATGGGATCTGTCTTTATATTGTTGGAG
AGAATAGCAAACATCCATAATACATTTTTTTTTTTTTGTGGATATAACATTCAGGATAGAATTGTTTGTCATTTATTGCTTAGATTGATATTTTGTATAC
TTAGGGATTATGAAAAAAGTTTGTGTTAATATTGCATTATTAAAGCACATGTTTAAAGATAATTATTAGATTTTAAGTTCACAATGCTTCATGTATTGTT
TATTCTTGTGATTTTATTTTTACTTTAGGAATTTATTCTTCATTGCCTGTTGAAGTTCCTTTGAATCACAAACGGTTTGTTTGTGATCTAACTCAAGCTG
ATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGC
TGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGA
GCCAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTGATTCGAGATGTGATAAATGTGCACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGC
AAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCACGGCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTC
ACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGG
GAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACTTGTACCTATATTAATTATGCTTACGCCATGATAACCAATATACAGATA
TATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGCTTATTATTTTTTTTATGATCTGTTTAGTGCTTATTATTTTCCAGTAA
ATATGCTTCAAACCATGAGTACACTATTAGGCCCTACAACTTTGTTTTCCTTATATTTTATTAGATGATTTGCTTCCTATAACTGATGTTGTTTTGTTCG
TTTTGCTAATATATGTATCTCAAAATTCTTTAAGTCAATATTTATCATATGTAAATTAAACATGAATACATTCTCATCTTATAACTACATCTTATAAATA
AGGCTAATAACCCTTAGAACACCACCTGCGGTTCTGTCCTCACCCCAGTGGCGACTACTGTTTACCACTACACTGGTGAATTGTAGTAGGGAAAAACAAT
CTAAATATTGAAGAGGAATGGCCTAATTAAAATATGATGTAGTCATAGGATAGATTATTGTATTGGAGTTAAAAGAAATAATCTAGATCCATATTAACCT
GGATTGGTCTCAAAAACATAATGCTCAGTGAAAATAGCAAGTTGTAGAAAGTTATATACAAATTATATATATGTACAAAACAATACTATGCATTCTCTAT
GGCTATATAATGTACGTAAATCTATTTTTAAAGGTTCAGAGGAATCCATACCAAAGTTCTAACAGCGAGTAGGAGGTATAGATGAGAGATTAGGGGTGCA
AATCAGGATTGGGAGGGTGGTCAGAGGGAACTTTAGCTTTATCCATAACATTAATTTTTTTAAAAAATAAGGTCTTAATGTTTCATTTAATTTAAAATAT
ACTGTCATGTTGTGTTTTGTAAATCAACTGAATTGAGGTACTATTTACTTAGATTTATTGCACCCTTTTTACGTGTGTATTTTATTGGGTTTTGACAGAT
TCATACCTCTGTGCAGCCACTATCACGATCAAGATACAAATATTTTCATTGCCCCCAAAATTCTCATACCCCCTTTCCCAATCAATTCCTCTACCCCTAG
CCCTAGGCAGCCACAGATTTGCTTTTGGTTACCGATTAGATCTATCCATTGTAGAATTCATGTAAATAGAATACTGTAGTATGTACTTTGCCTTCTTCCT
CTCTGCAGATTTTTGAGATTGATCCCTGTGTGTCAGTTGTGCATTTTTTTTGTTGCTGAGTAGTATGTTCTATCTTATGTCAGATCATTCACGTGAGACT
TTGGCATGAAATGTTAAGCATCCGACATCTAAATAGCAATATTTTGAATACTGGAAACTCAGGTTAAAGATTTTGTTTCCAAGTAGAAATGAAATCTTAT
TATTTTAATAAGTAGCTGACAGTGACAGAAAGATTGGATTTGGATCAGATTGGCTGTTAGGCTTCAGGTATGGGAAACAGCTCTCAGATTTATAAATTGG
AAATCACCAGGTTACTTGCCAATATATAGTCATATTGCTGCCATTGTACTTAATTTCTAAATATATAAAATCCACATTTAAAAATTATAAAAGCAAGGAC
TTGGGAGTGACTGATGAATCATGAAATTGCTGCTTTTATAGATCAAAACTACTTGAATCATCAGGAATTTCATATTTTTCATATTGTGTGACAACTTATA
ATTTTGTTTCAAATTGTGATTTCATTGATTTTACTAACTGGAAGGAAGAAGAGTAAAATTGGCATATTTAGGTTTTTTGTAGAAGAAAGATACAAGTGAA
AATTAGGAGTGGATTGGAGAAATTGGGGGGAAATAGAAGAGTACGGAGAAAGGAAGAGATTGAAAATGTTACCAGAGTTCTTTAAAGCTCACATTTTATA
GTATCACTGCTACAAACTATTTAATGAAATGTGGCATCGGGTGAAAAGAGGCATTTGTTTGATCCTTGAACGAATTAATCTCACGTACTTCCCTGTTTGT
GGTTTGAGCCTTTCACTGGATGTGAGCTACTTGAGAGCAGGGTTTATGCCTTCATCAGCGTGACCCCTGTGCCTGCAGCCTCATAGGTGTTAATCTGTAA
TTTTAAATTTTGACAAAAGCATTTTCACAGCCCTGCCACATAAGATCTAGTTTTTATTTCTAGAGTGCTGCTATGAATAATTACTATAGCTGCTGTCCAT
CTTGCCCATCCATTAAGGTACCTTCTCACAAACATTTCTAATCTACTGGCTGGAGTGCAGTGGTGCAGTCTGTAGCTCACTGCAGCCTCAAACTCCTAGG
CTCAGGCGATCCTCTTGCCCTGGCCTCCCATGTAGCTGCAACTATAGGTGTGTGCCACTACACCTGGCTAATGTTTTTAGTTTTTTAGAGATGGAGTCTT
GCTCTGTTGCCTAGGCTGGTCTTGAACTCCTGGGCTCAGATGATCCTCCTGTCCTCAGCCTCCCAAAATGCTGGGAGCCACCAGGCACCAGGTGTGATCT
ACCACACCTGTCTAAAAAGTATGTATTTTTAAATTTTTTTGTAGAGACAGGATCTCACTATGTTCTCCAGCTGGTCTCAAGCTCCTGGCCTCGGCCTCCT
AAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTAGTCACTTTAATTGAGATATTGGCAAGTCAACTGCCATGCAGAGCCCAGGGCACTGGTTATATT
CAGTAGGAAACTGAACTCAGCACTCAGAATTTTAAATTAAATCAATGATCTTCAAGTATTTGCCACTTTCGAGTACAGCTAATTGGATAATCTCAAACCC
TTTAGTGAAAATATCTTAAATGCATTGAGAATATTTTCTAATTACCTGTGTATGCTACAGTACAGACATTAATTCTATAAACATGTTCATAGGTCTTCCC
CCTCGCCCCGCCCGTCTTCTAAGGGCATTTTCTGTTTCTTTTTAGTGAGTTCATGAATGTTTAACGGTTCTGGCGCAAAGCTTTCTTGCATTCTGAGCAT
AAAAATAATAAAACCCACTTATATTTGCTTG


Protein Sequence     (SEQ ID NO:266):
MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFY
ENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQIIGVSIKRN*



SNP Information


Context              (SEQ ID NO:596):
AGCGGCGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCT
R
GATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCAT
Celera SNP ID:                hCV29334866
SNP Position Transcript:      189
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:266, 43,(L,CTG) (L,CTA)



Context              (SEQ ID NO:597):
GGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATA
Y
GATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTGAGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGT
Celera SNP ID:                hCV25632095
SNP Position Transcript:      240
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:266, 60,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:266, 60,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:598):
CGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATC
Y
CGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGT
Celera SNP ID:                hCV3003757
SNP Position Transcript:      194
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,14|T,2) ; no_pop(C,-|T,-) ; no_pop(C,1164|T
,260) ; no_pop(C,148|T,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:266, 45,(P,CCC) (L,CTC)



Context              (SEQ ID NO:599):
ACATATTATAGTCTTGAATTGGAATTTTGGTTGAATTACAAGGAATTTAAGTATCAGTCTTCATCATAAAGAAATTTAAGATGAATAAATTGAAGAAAAG
K
CTAAAATAATTTAAGAAGGAAATTATATTTCTTTGTTTAAAAATAACAGGCAAAGGTTTATATGAAGCTTGTTTGTAATACATCATTATTTTCTAATCTG
Celera SNP ID:                hCV27882571
SNP Position Transcript:      695
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:600):
ATTAGAATAAAATTGATTGACTTGAAAGGGAACCCTTTTTTCCCCATTAATTCAAAACCCTTTGACGAGTAAAAATGGCCATATATTGTTATGTATAGCC
R
TGTTAAACCATGGCCTCAGATTCACTGCAGCTCTCCTCTTAATATGTAGACAAGTAGTACCTCTTTTTTGTTGTAATGCTTAGTTCATAGTATGCTCTTA
Celera SNP ID:                hCV1339622
SNP Position Transcript:      988
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,1) ; no_pop(G,-|A,-) ; no_pop(G,75|A,45
)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:601):
CCCATTAATTCAAAACCCTTTGACGAGTAAAAATGGCCATATATTGTTATGTATAGCCGTGTTAAACCATGGCCTCAGATTCACTGCAGCTCTCCTCTTA
R
TATGTAGACAAGTAGTACCTCTTTTTTGTTGTAATGCTTAGTTCATAGTATGCTCTTATTTGAATTCTTTTTGCCTCTACCTAGGAACTTAATGAGGTTA
Celera SNP ID:                hCV1339621
SNP Position Transcript:      1030
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:602):
TGGAGAGAATAGCAAACATCCATAATACATTTTTTTTTTTTTGTGGATATAACATTCAGGATAGAATTGTTTGTCATTTATTGCTTAGATTGATATTTTG
Y
ATACTTAGGGATTATGAAAAAAGTTTGTGTTAATATTGCATTATTAAAGCACATGTTTAAAGATAATTATTAGATTTTAAGTTCACAATGCTTCATGTAT
Celera SNP ID:                hCV25632088
SNP Position Transcript:      1996
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,1|T,29)  total(C,1|T,31)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:603):
TTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAG
Y
GATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAA
Celera SNP ID:                hCV1339620
SNP Position Transcript:      2280
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,8)  african american(C,29|T,5)  total(C,53|T,13)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,972|T,848) ; no_pop(C,10|T,2) ; no_pop(C,-|T,-) ; no_pop(C,17
12|T,1056)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:604):
ATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGA
Y
AATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAA
Celera SNP ID:                hCV1339617
SNP Position Transcript:      2319
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,1)  african american(C,28|T,8)  total(C,63|T,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:605):
CACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCAC
R
GCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAA
Celera SNP ID:                hCV27491293
SNP Position Transcript:      2564
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:606):
GATAAGGATAAAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACT
Y
GTACCTATATTAATTATGCTTACGCCATGATAACCAATATACAGATATATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGC
Celera SNP ID:                hCV8847823
SNP Position Transcript:      2753
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,4|C,88) ; no_pop(T,-|C,-) ; no_pop(T,107|C,13)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:607):
GAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACTTGTACCTATATTAATTATGCTTA
Y
GCCATGATAACCAATATACAGATATATTAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGCTTATTATTTTTTTTATGATCTGT
Celera SNP ID:                hCV29334870
SNP Position Transcript:      2776
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:608):
TAAATTAAACATGAATACATTCTCATCTTATAACTACATCTTATAAATAAGGCTAATAACCCTTAGAACACCACCTGCGGTTCTGTCCTCACCCCAGTGG
Y
GACTACTGTTTACCACTACACTGGTGAATTGTAGTAGGGAAAAACAATCTAAATATTGAAGAGGAATGGCCTAATTAAAATATGATGTAGTCATAGGATA
Celera SNP ID:                hCV1339607
SNP Position Transcript:      3152
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,25|C,67) ; no_pop(T,8|C,8) ; no_pop(T,-|C,-) ; no_pop(T,196|C
,500)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:609):
GTCTTAATGTTTCATTTAATTTAAAATATACTGTCATGTTGTGTTTTGTAAATCAACTGAATTGAGGTACTATTTACTTAGATTTATTGCACCCTTTTTA
M
GTGTGTATTTTATTGGGTTTTGACAGATTCATACCTCTGTGCAGCCACTATCACGATCAAGATACAAATATTTTCATTGCCCCCAAAATTCTCATACCCC
Celera SNP ID:                hCV1339606
SNP Position Transcript:      3672
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,6|A,2) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:610):
CCGACATCTAAATAGCAATATTTTGAATACTGGAAACTCAGGTTAAAGATTTTGTTTCCAAGTAGAAATGAAATCTTATTATTTTAATAAGTAGCTGACA
R
TGACAGAAAGATTGGATTTGGATCAGATTGGCTGTTAGGCTTCAGGTATGGGAAACAGCTCTCAGATTTATAAATTGGAAATCACCAGGTTACTTGCCAA
Celera SNP ID:                hCV1339605
SNP Position Transcript:      4122
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,4) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:611):
TTGAATCATCAGGAATTTCATATTTTTCATATTGTGTGACAACTTATAATTTTGTTTCAAATTGTGATTTCATTGATTTTACTAACTGGAAGGAAGAAGA
R
TAAAATTGGCATATTTAGGTTTTTTGTAGAAGAAAGATACAAGTGAAAATTAGGAGTGGATTGGAGAAATTGGGGGGAAATAGAAGAGTACGGAGAAAGG
Celera SNP ID:                hCV8847822
SNP Position Transcript:      4453
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,14|G,78) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:612):
CACTGCTACAAACTATTTAATGAAATGTGGCATCGGGTGAAAAGAGGCATTTGTTTGATCCTTGAACGAATTAATCTCACGTACTTCCCTGTTTGTGGTT
K
GAGCCTTTCACTGGATGTGAGCTACTTGAGAGCAGGGTTTATGCCTTCATCAGCGTGACCCCTGTGCCTGCAGCCTCATAGGTGTTAATCTGTAATTTTA
Celera SNP ID:                hCV8847815
SNP Position Transcript:      4705
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:613):
TGCTGTCCATCTTGCCCATCCATTAAGGTACCTTCTCACAAACATTTCTAATCTACTGGCTGGAGTGCAGTGGTGCAGTCTGTAGCTCACTGCAGCCTCA
R
ACTCCTAGGCTCAGGCGATCCTCTTGCCCTGGCCTCCCATGTAGCTGCAACTATAGGTGTGTGCCACTACACCTGGCTAATGTTTTTAGTTTTTTAGAGA
Celera SNP ID:                hCV15858648
SNP Position Transcript:      4991
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Context              (SEQ ID NO:614):
TCTATAAACATGTTCATAGGTCTTCCCCCTCGCCCCGCCCGTCTTCTAAGGGCATTTTCTGTTTCTTTTTAGTGAGTTCATGAATGTTTAACGGTTCTGG
Y
GCAAAGCTTTCTTGCATTCTGAGCATAAAAATAATAAAACCCACTTATATTTGCTTG
Celera SNP ID:                hCV8847814
SNP Position Transcript:      5674
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:266, None



Gene Number:                  4
Celera Gene:                  hCG15867 - 208000027658692
Celera Transcript:            hCT6897 - 208000027658705
Public Transcript Accession:
Celera Protein:               hCP35700 - 208000027658691
Public Protein Accession:
Gene Symbol:                  C6orf151
Protein Name:                  chromosome 6 open reading frame 151
Celera Genomic Axis:          GA_x5YUV32VT9V(7209452..7243116)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:6):
AGAGGCCTGCGCGTGCGGTCTGCAGTTCGGCCGCTTCCTCTTGGCGGGTGGGCTGCAGCTATGGAGGGCGAGCCTCCACCTGTGGAGGAGCGGCGGCGGC
TGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGA
AGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTG
AGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGTATAATCCTGAGTTTTTCTATGAAAATGTGAAGATACCTTCGATTACTTTGAATAAGGACT
CACAATTCCAGATAATTAAACAAGCTAGAACTGCAGTTGGGAAAGACAGTGATTGTTATAATCAAAGAATTTATTCTTCATTGCCTGTTGAAGTTCCTTT
GAATCACAAACGGTTTGTTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAA
ATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAG
AAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTGATTCGAGATGTGATAAATGT
GCACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCA
CGGCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATA
AAAACTGTGAGTCGAGAAGAAGGAAAGAGAGCCAGGTGTGGTGGTTCGCGCCTGAAATCCAGCTGCTTGGGAGGCTGAGGCAGGAATCGCTTGAATCCGG
GAGGCGAAGGTTGCAGTGAGCCGAGATCGTGCCATTTGCGCTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAACAGAAACAAACAAATAAA
AAAACTAAGAGACGAAACTGAAATAGGAATAATCAAAGTGATTTTTTTTAAATTACGCTTTGAAATTCTGCTTTAAAATTAACTTTGAGTATATGTAAAT
GATAACCAGAAAATTCTTTTCAAATAGAATGTTAAAGTAGCATATTACTGTTGAAAGTGGTGTATTACTGTTGAATTATTTTAAAGCT


Protein Sequence     (SEQ ID NO:267):
MEGEPPPVEERRRLQEELNEFVESGCRTLEEVTASLGWDLDSLDPGEEEAAEDEVVICPYDSNHHMPKSSLAKHMASCRLRKMGYTKEEEDEMYNPEFFY
ENVKIPSITLNKDSQFQIIKQARTAVGKDSDCYNQRIYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDN
SRKSPKSYLEILAEVRDYKRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRS
RSPHKRKRNKDKDKNCESRRRKESQVWWFAPEIQLLGRLRQESLESGRRRLQ*



SNP Information


Context              (SEQ ID NO:615):
TTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAG
Y
GATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAA
Celera SNP ID:                hCV1339620
SNP Position Transcript:      618
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,8)  african american(C,29|T,5)  total(C,53|T,13)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 186,(S,AGC) (S,AGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,972|T,848) ; no_pop(C,10|T,2) ; no_pop(C,-|T,-) ; no_pop(C,17
12|T,1056)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 186,(S,AGC) (S,AGT)



Context              (SEQ ID NO:616):
AGCGGCGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCT
R
GATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCAT
Celera SNP ID:                hCV29334866
SNP Position Transcript:      189
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 43,(L,CTG) (L,CTA)



Context              (SEQ ID NO:617):
GGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATCCCGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATA
Y
GATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGTAGATTGAGGAAAATGGGCTATACCAAAGAAGAAGAGGATGAAATGT
Celera SNP ID:                hCV25632095
SNP Position Transcript:      240
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 60,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 60,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:618):
ATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAATTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGA
Y
AATAGTCGAAAAAGTCCAAAATCCTACCTTGAAATCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAA
Celera SNP ID:                hCV1339617
SNP Position Transcript:      657
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,1)  african american(C,28|T,8)  total(C,63|T,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 199,(D,GAC) (D,GAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:267, 199,(D,GAC) (D,GAT)



Context              (SEQ ID NO:619):
CGGCGGCTGCAGGAGGAGCTGAACGAGTTCGTGGAGAGCGGCTGCCGGACGTTGGAGGAGGTGACCGCGTCCCTGGGCTGGGACCTAGATAGTCTGGATC
Y
CGGGGAAGAGGAGGCGGCGGAGGATGAAGTTGTGATATGTCCATACGATTCCAATCATCACATGCCTAAATCATCTTTGGCAAAGCACATGGCATCTTGT
Celera SNP ID:                hCV3003757
SNP Position Transcript:      194
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,14|T,2) ; no_pop(C,-|T,-) ; no_pop(C,1164|T
,260) ; no_pop(C,148|T,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:267, 45,(P,CCC) (L,CTC)



Context              (SEQ ID NO:620):
CACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATGAAGAAAGGCGATCAGCTTCAGTAGATTCAC
R
GCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTAGAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAA
Celera SNP ID:                hCV27491293
SNP Position Transcript:      902
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:267, 281,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:621):
GAAAGAGAGCCAGGTGTGGTGGTTCGCGCCTGAAATCCAGCTGCTTGGGAGGCTGAGGCAGGAATCGCTTGAATCCGGGAGGCGAAGGTTGCAGTGAGCC
R
AGATCGTGCCATTTGCGCTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAACAGAAACAAACAAATAAAAAAACTAAGAGACGAAACTGAAA
Celera SNP ID:                hCV27071919
SNP Position Transcript:      1123
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,6) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:267, None



Context              (SEQ ID NO:622):
GGGCAACAAGAGTGAAACTCCATCTCAAAAAAACAGAAACAAACAAATAAAAAAACTAAGAGACGAAACTGAAATAGGAATAATCAAAGTGATTTTTTTT
W
AATTACGCTTTGAAATTCTGCTTTAAAATTAACTTTGAGTATATGTAAATGATAACCAGAAAATTCTTTTCAAATAGAATGTTAAAGTAGCATATTACTG
Celera SNP ID:                hCV1339608
SNP Position Transcript:      1250
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,8|A,7) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:267, None



Gene Number:                  5
Celera Gene:                  hCG2039616 - 208000043779151
Celera Transcript:            hCT2344310 - 208000043779155
Public Transcript Accession:  NM_017440
Celera Protein:               hCP1909607 - 208000043779141
Public Protein Accession:     NP_059136
Gene Symbol:                  MDM1
Protein Name:                  Mitochondrial deafness modifier 1
Celera Genomic Axis:          GA_x5YUV32W46Y(15970202..16020018)
Chromosome:                   12
OMIM NUMBER:                  221745
OMIM Information:             Deafness, sensorineural, autosomal-mitochondrial (2)


Transcript Sequence  (SEQ ID NO:7):
AAGCGCGGAGTGCGCCGGCGCGTAGTCGGGGACGCCGGGCCGAGGCTTTGCTAGGGAACACTGTTATCGCCCCGCCCCCTCGGAGCTTTTTCTCCAGTTA
ACTGTCGGAGTAGCGGGGGCTCCGGCGCCGGGCGACATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATT
TGTCAGAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCATGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAA
AAGAAGAGTCCCTTACCATGACCCACAGATTTCAAAATCTCTGGAGTGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCC
CCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTC
ACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAATAATGAGGGTGTAACAAACCATACACCAGTTAATGAAAATGTGGAACTGGAACATTC
TACCAAGGTTCTTTCAGAAAATGTAGATAATGGGTTGGATAGACTTCTGCGTAAGAAAGCTGGATTGACTGTTGTTCCTTCATATAATGCCTTGAGAAAT
TCTGAATATCAAAGGCAGTTTGTTTGGAAGACTTCTAAAGAAACTGCTCCAGCTTTTGCAGCCAATCAGGTTTTCCACAATAAAAGCCAGTTTGTTCCAC
CATTCAAAGGTAACTCAGTCATCCATGAAACTGAATACAAAAGAAATTTCAAGGGTTTATCTCCAGTGAAAGAACCAAAATTAAGAAATGATTTGAGAGA
AAACAGAAATCTTGAAACAGTGTCTCCTGAAAGGAAGAGTAATAAAATAGACGATCGTTTAAAATTGGAAGCAGAGATGGAATTAAAAGACTTACACCAG
CCTAAAAGGAAGCTTACTCCTTGGAAACATCAAAGGCTTGGGAAGGTGAATTCCGAATATAGAGCAAAATTTCTGAGCCCAGCTCAGTATTTATATAAAG
CTGGGGCTTGGACACATGTAAAGGGAAACATGCCAAATCAGGTTAAAGAACTCCGAGAAAAGGCTGAGTTTTATAGGAAGCGAGTTCAGGGGACGCATTT
TTCTCGGGACCATCTGAATCAGATTTTATCTGATAGCAACTGCTGTTGGGATGTCTCCTCAACCACAAGCTCAGAAGGAACCGTTAGTAGCAACATCAGA
GCATTAGATCTTGCTGGAGATCCTACAAGCCATAAGACTTTGCAGAAATGTCCTTCTACAGAACCAGAAGAAAAAGGAAATATCGTGGAAGAACAGCCCC
AGAAAAATACCACGGAGAAATTGGGTGTGTCAGCTCCCACCATACCCGTTAGAAGGCGGCTGGCTTGGGATACAGAGAACACAAGTGAAGACGTACAGAA
ACAGCCCGGGGAGAAAGAGGAGGAGGACGACAATGAAGAGGAAGGGGACAGGAAAACGGGCAAGCAGGCTTTTATGGGAGAGCAAGAGAAGTTGGATGTA
CATGAGAAATCTAAGGCAGATAAGATGAAAGAAGGGTCAGATTCTTCTGTATCCTCAGAAAAAGGAGGCCGGCTTCCTACTCCCAAGCTGAGAGAACTTG
GTGGAATCCAGAGGACTCATCATGATCTCACTACTCCAGCTGTTGGTGGTGCTGTTTTAGTGTCTCCATCTAAGATGAAGCCTCCAGCCCCAGAACAGAG
GAAAAGAATGACCTCTCAGGATTGTTTAGAAACTTCAAAGAATGATTTTACTAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCAGCTGCTGGT
ATAAAAACAGTTGATCCTCTGCCTTTGCGGGAAGATTCTGAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCCAAAATACC
CAACAAATCCCCCTGGACAGTTGCCTTCTCCACCACATGTTCCATCCTACTGGCATCCCTCTCGACGAATTCAGGGCTCTCTTAGAGATCCAGAGTTTCA
GCACAATGTGGGAAAAGCAAGGATGAACAATTTGCAGTTACCTCAACATGAAGCCTTTAATGATGAAGATGAGGACAGATTGTCTGAGATTTCTGCTCGC
TCTGCAGCTTCTAGTCTCCGGGCTTTTCAAACTCTGGCACGAGCTAAGAAAAGGAAGGAGAATTTCTGGGGTAAAACATAAACCTAGCTGAGTTGCCTTT
ATCTAAGGAAACATTGGCATAATTTTTCTTTATTGCTTACTGTGTTAAAATTTTTTGAGTGAAGTTTTTCCTAACGTTTTCTACTTTGAAATATTTAATT
TCCAATAGAACAGTTTACTTGGAAATTGTTAACATAGGCTTATACAAATTTAACTTTTAAAGAATTCTTTTTACATCTATCCCAGAGTACAAAGACCTAG
ATTATTGAATTCTTCACATGTAACTTTCGTAATAGGTGTCATGGATAGATTTTCACCTATCCAGAGAGTATTCTAAAAAAATAAACAAAGTGAAGTAAAA
GTTAAGATCCCAGTGTGAAGTATATATTCCCCTAAGATTTGATATATGTATCTTTATAATTGATGATGTTGTAAAATGAATTTGTTGTTCCTTTAACCTT
TGCTGTAGTGTTTCTTTTTATTTTAGTTCCTTCTATACATGTTTGCAGTGTTAAGATAATTGTACTTTGAAAACACCAGCTGTATATATTTTTCTTATTT
ATGTAACAAAGTTTGCTGAAAGATATGTATATTTTTGATCTTTGAGTGTATTCTATTTGTGTAAGGACTTTGGCTTACATTTGAATAATGTCTAGATTTT
GAAAAATTACCTGTATAATGGAGAATTAAAACTTTGTAGACATTTTGAAATAAAAATGGATCAAGTGCG


Protein Sequence     (SEQ ID NO:268):
MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAISESNVVASPEPEAPETPKSQEAEQK
DVTQERVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENVELEHSTKVLSENVDNGLDRLLRKKAGLTVVPSYNALRNSEYQRQFVWKTS
KETAPAFAANQVFHNKSQFVPPFKGNSVIHETEYKRNFKGLSPVKEPKLRNDLRENRNLETVSPERKSNKIDDRLKLEAEMELKDLHQPKRKLTPWKHQR
LGKVNSEYRAKFLSPAQYLYKAGAWTHVKGNMPNQVKELREKAEFYRKRVQGTHFSRDHLNQILSDSNCCWDVSSTTSSEGTVSSNIRALDLAGDPTSHK
TLQKCPSTEPEEKGNIVEEQPQKNTTEKLGVSAPTIPVRRRLAWDTENTSEDVQKQPGEKEEEDDNEEEGDRKTGKQAFMGEQEKLDVHEKSKADKMKEG
SDSSVSSEKGGRLPTPKLRELGGIQRTHHDLTTPAVGGAVLVSPSKMKPPAPEQRKRMTSQDCLETSKNDFTKKESRAVSLLTSPAAGIKTVDPLPLRED
SEDNIHKFAEATLPVSKIPKYPTNPPGQLPSPPHVPSYWHPSRRIQGSLRDPEFQHNVGKARMNNLQLPQHEAFNDEDEDRLSEISARSAASSLRAFQTL
ARAKKRKENFWGKT*



SNP Information


Context              (SEQ ID NO:623):
CAGCCCGGGGAGAAAGAGGAGGAGGACGACAATGAAGAGGAAGGGGACAGGAAAACGGGCAAGCAGGCTTTTATGGGAGAGCAAGAGAAGTTGGATGTAC
R
TGAGAAATCTAAGGCAGATAAGATGAAAGAAGGGTCAGATTCTTCTGTATCCTCAGAAAAAGGAGGCCGGCTTCCTACTCCCAAGCTGAGAGAACTTGGT
Celera SNP ID:                hCV1921686
SNP Position Transcript:      1602
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1724|G,1264) ; no_pop(A,8|G,8) ; no_pop(A,-|G,-) ; no_pop(A,5
40|G,164) ; no_pop(A,172|G,68)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 489,(H,CAT) (R,CGT)



Context              (SEQ ID NO:624):
TCGGAGTAGCGGGGGCTCCGGCGCCGGGCGACATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATTTGTC
M
GAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCATGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAAAAGAA
Celera SNP ID:                hCV25649877
SNP Position Transcript:      205
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,170|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:268, 23,(S,TCA) (S,TCC)



Context              (SEQ ID NO:625):
GAGTGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCCCCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTA
Y
TCAAGAAAGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTCACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAAT
Celera SNP ID:                hCV1921694
SNP Position Transcript:      444
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,22|T,70) ; no_pop(C,4|T,3) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-
) ; no_pop(C,34|T,86)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 103,(T,ACT) (I,ATT)



Context              (SEQ ID NO:626):
AGAATGATTTTACTAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCAGCTGCTGGTATAAAAACAGTTGATCCTCTGCCTTTGCGGGAAGATTC
K
GAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCCAAAATACCCAACAAATCCCCCTGGACAGTTGCCTTCTCCACCACATG
Celera SNP ID:                hCV25743303
SNP Position Transcript:      1939
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,24|G,0)  african american(T,35|G,1)  total(T,59|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:268, 601,(S,TCT) (S,TCG)



Context              (SEQ ID NO:627):
AGTTCAGGGGACGCATTTTTCTCGGGACCATCTGAATCAGATTTTATCTGATAGCAACTGCTGTTGGGATGTCTCCTCAACCACAAGCTCAGAAGGAACC
R
TTAGTAGCAACATCAGAGCATTAGATCTTGCTGGAGATCCTACAAGCCATAAGACTTTGCAGAAATGTCCTTCTACAGAACCAGAAGAAAAAGGAAATAT
Celera SNP ID:                hCV25741844
SNP Position Transcript:      1283
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,5)  african american(G,34|A,4)  total(G,69|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 383,(V,GTT) (I,ATT)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 383,(V,GTT) (I,ATT)



Context              (SEQ ID NO:628):
AGAGAACTTGGTGGAATCCAGAGGACTCATCATGATCTCACTACTCCAGCTGTTGGTGGTGCTGTTTTAGTGTCTCCATCTAAGATGAAGCCTCCAGCCC
Y
AGAACAGAGGAAAAGAATGACCTCTCAGGATTGTTTAGAAACTTCAAAGAATGATTTTACTAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCA
Celera SNP ID:                hCV16193697
SNP Position Transcript:      1791
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|C,28)  african american(T,9|C,29)  total(T,19|C,57)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 552,(P,CCA) (L,CTA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2404|T,576) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-) ; no_pop(C,-
|T,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 552,(P,CCA) (L,CTA)



Context              (SEQ ID NO:629):
ATACCACGGAGAAATTGGGTGTGTCAGCTCCCACCATACCCGTTAGAAGGCGGCTGGCTTGGGATACAGAGAACACAAGTGAAGACGTACAGAAACAGCC
Y
GGGGAGAAAGAGGAGGAGGACGACAATGAAGAGGAAGGGGACAGGAAAACGGGCAAGCAGGCTTTTATGGGAGAGCAAGAGAAGTTGGATGTACATGAGA
Celera SNP ID:                hCV16193696
SNP Position Transcript:      1507
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,1482|T,22) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:268, 457,(P,CCC) (P,CCT)



Context              (SEQ ID NO:630):
TTTGCGGGAAGATTCTGAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCCAAAATACCCAACAAATCCCCCTGGACAGTTG
Y
CTTCTCCACCACATGTTCCATCCTACTGGCATCCCTCTCGACGAATTCAGGGCTCTCTTAGAGATCCAGAGTTTCAGCACAATGTGGGAAAAGCAAGGAT
Celera SNP ID:                hCV25743726
SNP Position Transcript:      2024
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:268, 630,(P,CCT) (S,TCT)



Context              (SEQ ID NO:631):
TCAAACTCTGGCACGAGCTAAGAAAAGGAAGGAGAATTTCTGGGGTAAAACATAAACCTAGCTGAGTTGCCTTTATCTAAGGAAACATTGGCATAATTTT
W
CTTTATTGCTTACTGTGTTAAAATTTTTTGAGTGAAGTTTTTCCTAACGTTTTCTACTTTGAAATATTTAATTTCCAATAGAACAGTTTACTTGGAAATT
Celera SNP ID:                hCV25746677
SNP Position Transcript:      2327
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:268, None



Context              (SEQ ID NO:632):
ACATAAACCTAGCTGAGTTGCCTTTATCTAAGGAAACATTGGCATAATTTTTCTTTATTGCTTACTGTGTTAAAATTTTTTGAGTGAAGTTTTTCCTAAC
R
TTTTCTACTTTGAAATATTTAATTTCCAATAGAACAGTTTACTTGGAAATTGTTAACATAGGCTTATACAAATTTAACTTTTAAAGAATTCTTTTTACAT
Celera SNP ID:                hCV1921673
SNP Position Transcript:      2376
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|A,18)  african american(G,4|A,34)  total(G,22|A,52)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:268, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,12|A,6)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:268, None



Gene Number:                  5
Celera Gene:                  hCG2039616 - 208000043779151
Celera Transcript:            hCT2348771 - 208000043779156
Public Transcript Accession:  NM_020128
Celera Protein:               hCP1914021 - 208000043779143
Public Protein Accession:     NP_064513
Gene Symbol:                  MDM1
Protein Name:                  Mitochondrial deafness modifier 1
Celera Genomic Axis:          GA_x5YUV32W46Y(15970202..16020018)
Chromosome:                   12
OMIM NUMBER:                  221745
OMIM Information:             Deafness, sensorineural, autosomal-mitochondrial (2)


Transcript Sequence  (SEQ ID NO:8):
AAGCGCGGAGTGCGCCGGCGCGTAGTCGGGGACGCCGGGCCGAGGCTTTGCTAGGGAACACTGTTATCGCCCCGCCCCCTCGGAGCTTTTTCTCCAGTTA
ACTGTCGGAGTAGCGGGGGCTCCGGCGCCGGGCGACATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATT
TGTCAGAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCATGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAA
AAGAAGAGTCCCTTACCATGACCCACAGATTTCAAAATCTCTGGAGTGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCC
CCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTC
ACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAATAATGAGGGTGTAACAAACCATACACCAGTTAATGAAAATGTGGAACTGGAACATTC
TACCAAGGTTCTTTCAGAAAATGTAGATAATGGGGTAGGCATATTCACTGCATTTCTTTTCAAAAGCATAGAATTCTTCATTGGTTTCATTGTCATTTCT
GTAATATTACATTTTGTGTTTCAGAATTTTCCATTGTTGTTTTCTTGTCTAATGTCTATAAGAATAGTTGATAACAGGCTGTTGACTTTAGTTATTGTGA
ATTAGTTCTATTCTGACTACTCGCTATTTTGTAGTAGTTGTACTATGATAATCTGTTTATTGGATGGACCTCCTGCGTCTGGATTTTATTCATCATATAT
TAGCACCTGAGTCCTAAGGGAGAGATCAAGTTGAGACAGAGAAGGGAAGTAGGCCCTTACTTCTGGCAGGGTGCTGAGCTGACTTCTACCTAGCCCCTTT
TCAGTTTCTTATCGTGTACAAGAAGACAAACAGAAATTCAATTGATGAAATGCAAAAGGAAGGAGAGCTCTGGCTGTCTCTCAGAGATCTTGCATTTCTG
CTCTCTTATGTCACAGCTGGCCTGCAGCAGGTCCCTGTGAGCACATAAGCAGAGGCTGCAGGAACTTGTGTGGGGATCTCAATGCTTTCCACATTTCTTT
CTCCATTCTGTTCCACTGCTCTTCTCTGGTTCATGTCCACCACTGACTGGGACCCTGAAGAGGCATTTCAGAGTGTTGGAGAAGAATCTGTAGCTTGTTG
AAAAAGCTGGGGGTGAAAGGGAACAAGGAAGGTGATGTGTGAGTCTGGCAGGCAGGAGAAGGGGTGTTCATAGAAGCAGTGTGCAGGTGAGGCAAAGTGC
TGGGACTTTTTGGTAATAGATTTAATTATGAATGATTAGTAGGAAAGGACTGAGAGTATTATATTTTTCCTGGGATGCCTAATAGTCCTTTGATAGAAAG
GAATTTTAAATAGTTTGACACTTGAAAAAAGATACTATTTATAAGTTGAAGAAAGTTTGCTGTACCACAATGCGCATGTAGTTAACAATTTTGCACTGTA
GATTTAACATTTTGTTAAGAGGATAGATTTCATGTTATGCATTTTTTACCACAATTTTTAAAAAGTTTGAATAGAAATTTTTAATGTCTTTGAGTGGATT
TTGTTTTTTGAACAGTTGGATAGACTTCTGCGTAAGAAAGCTGGATTGACTGTTGTTCCTTCATATAATGCCTTGAGAAATTCTGAATATCAAAGGCAGT
TTGTTTGGAAGACTTCTAAAGAAACTGCTCCAGCTTTTGCAGCCAATCAGGTAGTTTAATGGATGTAATACATTTCTGAGTACCATTATCTTATCTAGTA
ATGTAGATTTACATAGAATTAAGAGTTGAAAGAAATTAAGTACTTAAGTAGCCTGGAGGTAGGTTCTAGAAAACCAAAATGAGAGTTTTGCTAAAATCAT
CCTATTACTTATGATTTATGGTAGTAATATTATACTGTCCTAGGCTTCTGATGATCATTGTTGCCAGATGCAGCACATATACTAAATATGAGACAGGGTA
ATGAAAACTTGGGGAACTGGTAAGTTTTTGCATGCTACAAGATTTTTTTACTTATTAAAAAATTATTAAA


Protein Sequence     (SEQ ID NO:269):
MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAISESNVVASPEPEAPETPKSQEAEQK
DVTQERVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENVELEHSTKVLSENVDNGVGIFTAFLFKSIEFFIGFIVISVILHFVFQNFPL
LFSCLMSIRIVDNRLLTLVIVN*



SNP Information


Context              (SEQ ID NO:633):
TCGGAGTAGCGGGGGCTCCGGCGCCGGGCGACATGCCGGTGCGCTTCAAGGGGCTGAGTGAATACCAGAGGAACTTCCTGTGGAAAAAGTCTTATTTGTC
M
GAGTCTTGTAATTCCTCCGTGGGGCGAAAGTACCCATGGGCTGGACTTAGATCAGATCAATTAGGCATCACGAAAGAGCCAAGTTTTATTTCAAAAAGAA
Celera SNP ID:                hCV25649877
SNP Position Transcript:      205
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,170|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:269, 23,(S,TCA) (S,TCC)



Context              (SEQ ID NO:634):
GAGTGGAATGGAGCTATCTCAGAGAGCAATGTGGTTGCATCACCAGAACCAGAAGCCCCGGAAACACCAAAATCACAAGAAGCAGAACAAAAGGATGTTA
Y
TCAAGAAAGAGTTCACTCACTAGAAGCTTCCAGGGTTCCCAAAAGAACCAGATCTCACTCTGCAGACTCCAGAGCTGAAGGGGCTTCAGATGTGGAAAAT
Celera SNP ID:                hCV1921694
SNP Position Transcript:      444
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,22|T,70) ; no_pop(C,4|T,3) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-
) ; no_pop(C,34|T,86)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:269, 103,(T,ACT) (I,ATT)



Context              (SEQ ID NO:635):
TAGGCATATTCACTGCATTTCTTTTCAAAAGCATAGAATTCTTCATTGGTTTCATTGTCATTTCTGTAATATTACATTTTGTGTTTCAGAATTTTCCATT
R
TTGTTTTCTTGTCTAATGTCTATAAGAATAGTTGATAACAGGCTGTTGACTTTAGTTATTGTGAATTAGTTCTATTCTGACTACTCGCTATTTTGTAGTA
Celera SNP ID:                hDV70923873
SNP Position Transcript:      736
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:269, 200,(L,TTG) (L,TTA)



Context              (SEQ ID NO:636):
TCAATGCTTTCCACATTTCTTTCTCCATTCTGTTCCACTGCTCTTCTCTGGTTCATGTCCACCACTGACTGGGACCCTGAAGAGGCATTTCAGAGTGTTG
K
AGAAGAATCTGTAGCTTGTTGAAAAAGCTGGGGGTGAAAGGGAACAAGGAAGGTGATGTGTGAGTCTGGCAGGCAGGAGAAGGGGTGTTCATAGAAGCAG
Celera SNP ID:                hCV29092723
SNP Position Transcript:      1279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:269, None



Context              (SEQ ID NO:637):
CTGGGATGCCTAATAGTCCTTTGATAGAAAGGAATTTTAAATAGTTTGACACTTGAAAAAAGATACTATTTATAAGTTGAAGAAAGTTTGCTGTACCACA
W
TGCGCATGTAGTTAACAATTTTGCACTGTAGATTTAACATTTTGTTAAGAGGATAGATTTCATGTTATGCATTTTTTACCACAATTTTTAAAAAGTTTGA
Celera SNP ID:                hCV25743260
SNP Position Transcript:      1570
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,40)  african american(T,2|A,36)  total(T,2|A,76)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:269, None



Context              (SEQ ID NO:638):
GAAAGGAATTTTAAATAGTTTGACACTTGAAAAAAGATACTATTTATAAGTTGAAGAAAGTTTGCTGTACCACAATGCGCATGTAGTTAACAATTTTGCA
S
TGTAGATTTAACATTTTGTTAAGAGGATAGATTTCATGTTATGCATTTTTTACCACAATTTTTAAAAAGTTTGAATAGAAATTTTTAATGTCTTTGAGTG
Celera SNP ID:                hCV25743304
SNP Position Transcript:      1596
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,37)  total(G,1|C,77)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:269, None



Context              (SEQ ID NO:639):
GTTCCTTCATATAATGCCTTGAGAAATTCTGAATATCAAAGGCAGTTTGTTTGGAAGACTTCTAAAGAAACTGCTCCAGCTTTTGCAGCCAATCAGGTAG
Y
TTAATGGATGTAATACATTTCTGAGTACCATTATCTTATCTAGTAATGTAGATTTACATAGAATTAAGAGTTGAAAGAAATTAAGTACTTAAGTAGCCTG
Celera SNP ID:                hCV1921693
SNP Position Transcript:      1855
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,16|C,12) ; no_pop(T,-|C,-) ; no_pop(T,928|C
,496) ; no_pop(T,172|C,68)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:269, None



Gene Number:                  6
Celera Gene:                  hCG16250 - 83000099381671
Celera Transcript:            hCT2324646 - 83000099381672
Public Transcript Accession:
Celera Protein:               hCP1887873 - 197000069431137
Public Protein Accession:
Gene Symbol:                  FAT
Protein Name:                  FAT tumor suppressor homolog 1 (Drosophila)
Celera Genomic Axis:          GA_x5YUV32W706(3267142..3414765)
Chromosome:                   4
OMIM NUMBER:                  600976
OMIM Information:


Transcript Sequence  (SEQ ID NO:9):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCT
GCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACAGTTAAGCAATGGGGAGACAT
TTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCG
AGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAG
GTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAAT
ACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGC
AGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGT
CAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATA
GTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCA
GCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCC
AGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGA
ACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGG
CTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGT
TTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGG
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
TAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGC
TTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAAT
TTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGA
TTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAA
AATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTAT
CAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGG
TGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAA
CTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTC
GATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTT
TCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAAC
AGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCG
TGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTAC
ATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTCTTACAGACACAGACACATTTTCAATTGA
CAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAG
CCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAG
AGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGA
AGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAA
GACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTG
TGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCGGAAGAGATGGGGAGATCCGATA
CTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACTGGACCGTGAATCGACCTCCCAT
TATTGGCTAACAGTCTTTGCAACCGATCAGGGTGTCGTGCCTCTTTCATCGTTCATAGAGATCTACATAGAGGTTGAGGATGTCAATGACAATGCACCAC
AGACATCAGAGCCTGTTTATTACCCAGAAATCATGGAAAATTCTCCTAAAGATGTATCTGTGGTCCAGATCGAGGCATTTGATCCAGATTCGAGCTCTAA
TGACAAGCTCATGTACAAAATTACAAGTGGAAATCCACAAGGATTCTTTTCAATACATCCTAAAACAGGTCTCATCACAACTACGTCAAGGAAGCTAGAC
CGAGAACAGCAAGATGAACACATATTAGAGGTTACTGTGACAGACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATG
AAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCT
CTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCG
AAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACAATGGTCGCCCTCAAAAGTCATCAA
CCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTTACCTTTACTGTGATGGAAAGTGA
CCCCGTTGCTCACATGATTGGAGTAATATCTGTGGAGCCTCCTGGCATACCCCTTTGGTTTGACATCACTGGTGGCAACTACGACAGTCACTTCGATGTG
GACAAGGGAACTGGAACCATCATTGTTGCCAAACCTCTTGATGCAGAACAGAAGTCAAACTACAACCTCACAGTCGAGGCTACAGATGGAACCACCACTA
TCCTCACTCAGGTATTCATCAAAGTAATAGACACAAATGACCATCGTCCTCAGTTTTCTACATCAAAGTATGAAGTTGTTATTCCTGAAGATACAGCGCC
AGAAACAGAAATTTTGCAAATCAGTGCTGTGGATCAGGATGAGAAAAACAAACTAATCTACACTCTGCAGAGCAGTAGAGATCCACTGAGTCTCAAGAAA
TTTCGTCTTGATCCTGCAACCGGCTCTCTCTATACTTCTGAGAAACTGGATCATGAAGCTGTTCACCAGCACACCCTCACGGTCATGGTACGAGATCAAG
ATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACCGCTTCCTCCTACAAAGGGCGGGT
TTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGT
ACTTTTGGAGAAATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGA
TTTAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTT
ACATCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAA
TAAAAGATGGAAATACAGGTGATGCTTTTGATATTAATCCACATTCTGGAACTATCATCACTCAGAAAGCCCTGGACTTTGAAACTTTGCCCATTTACAC
ATTGATAATACAAGGAACTAACATGGCTGGTTTGTCCACTAATACAACGGTTCTAGTTCACTTGCAGGATGAGAATGACAACGCGCCAGTTTTTATGCAG
GCAGAATATACAGGACTCATTAGTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATA
AAGACTCAAATGCTTTGCTTGTATATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAG
TCTGGACTATGAAGAAACAAGTATTTTTCACTTTACCGTCCAAGTGCATGACATGGGAACCCCACGTTTATTTGCTGAGTATGCAGCGAATGTAACAGTA
CATGTAATTGACATTAATGACTGCCCCCCTGTGTTTGCCAAGCCATTATATGAAGCATCTCTTTTGTTACCAACATACAAAGGAGTAAAAGTCATCACAG
TAAATGCTACAGATGCTGATTCAAGTGCATTCTCACAGTTGATTTACTCCATCACCGAAGGCAACATCGGGGAGAAGTTTTCTATGGACTACAAGACTGG
TGCTCTCACTGTCCAAAACACAACTCAGTTAAGAAGCCGCTACGAGCTAACCGTTAGAGCTTCCGATGGCAGATTTGCCGGCCTTACCTCTGTCAAAATT
AATGTGAAAGAAAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCACCGAGGCCGAAACATTAGCTGTCA
TTACTGCTATTGGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAAC
CACTGGCACGCCCTTCGATCGTGAGCAGCAGGAGGCGTTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTG
AAGGTCATTGTAGAAGACCAAAATGATAATGCGCCGGTGTTTGTCAACCTTCCCTACTACGCCGTTGTTAAAGTGGACACTGAGGTGGGCCATGTCATTC
GCTATGTCACTGCTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGA
AATTTCACTGAAAAAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAA
GTTATCGTTCCGATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTG
TGGTCCACGTGCAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGG
AGTTATCAATGTCATAGCTCCTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTA
TTTGTGGACATCATAGTAGACGACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGT
CTGTTGTTCAAGTTAGAGCCACCGATTCTGATTCAGAACCAAATAGAGGAATCTCATACCAGATGTTTGGGAATCACAGCAAGAGTCATGATCATTTTCA
TGTAGACAGCAGCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGCAGTTGATGGTGGTATG
CCCACGCTGAGCAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATGAAGCCAGAATTAGCG
AGCACGCCCCTCATGGGCATTTCGTGACCTGTGTAAAAGCCTATGATGCAGACAGTTCAGACATAGACAAGTTGCAGTATTCCATTCTGTCTGGCAATGA
TCATAAACATTTTGTCATTGACAGTGCAACAGGGATTATCACCCTCTCAAACCTGCACCGGCACGCCCTGAAGCCATTTTACAGTCTTAACCTGTCAGTG
TCTGATGGAGTTTTTAGAAGTTCCACCCAGGTTCATGTAACTGTAATTGGAGGCAATTTGCACAGTCCTGCTTTCCTTCAGAACGAATATGAAGTGGAAC
TAGCTGAAAACGCTCCCCTACATACCCTGGTGATGGAGGTGAAAACTACGGATGGGGATTCTGGTATTTATGGTCACGTTACTTACCATATTGTAAATGA
CTTTGCCAAAGACAGATTTTACATAAATGAGAGAGGACAGATATTTACTTTGGAAAAACTTGATCGAGAAACCCCGGCGGAGAAAGTGATCTCAGTCCGT
TTAATGGCTAAGGATGCTGGAGGAAAAGTTGCTTTCTGCACCGTGAATGTCATCCTTACAGATGACAATGACAATGCACCACAATTTCGAGCAACCAAAT
ACGAAGTGAATATCGGGTCCAGTGCTGCTAAAGGGACTTCAGTCGTTAAAGTTCTTGCAAGTGATGCCGATGAGGGCTCCAATGCCGACATCACCTATGC
CATTGAAGCAGACTCTGAAAGTGTAAAAGAGAATTTGGAAATTAACAAACTGTCCGGCGTAATCACTACAAAGGAGAGCCTCATTGGCTTGGAAAATGAA
TTCTTCACTTTCTTTGTTAGAGCTGTGGATAATGGGTCTCCATCAAAAGAATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTC
CAAAATTTTCAGAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCTATTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCT
TTACAGCCTGGTCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTTTGTGATTGACAGACAGAGCGGGAGACTGAAGTTGGAGAAGAGTCTTGAT
CATGAGACAACTAAGTGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAG
ATGCAAATGACAACAGCCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATC
TGATGCTGACTCAGGAACCAACGGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGC
TGGATTACAACTTTAAAGGAACTTGACCATGAAAAGAGAGACAATTACCAGATTAAAGTGGTTGCATCAGATCATGGTGAAAAGATCCAGCTATCCTCCA
CAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCCAAGG
TGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTT
GCCGTTGAAACTATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATG
GCACCTTCTCATCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTATTCCTGA
AGACGTCCTTCCTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCAGGTGCA
GAAAAATTCAAACTAAATCCAGACACAGGTGAACTGAAAACGTCAACCCCCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAG
ATGGAGGAGGAAGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGATGTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGT
GTTTGAAAACACAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAGATGCCGACGCAGGATTAAATCGGAAGATTTTATACTCACTGATTGACTCT
GCTGATGGGCAGTTCTCCATTAACGAATTATCTGGAATTATTCAGTTAGAAAAACCTTTGGACAGAGAACTCCAGGCAGTATACACCCTCTCTTTGAAAG
CTGTGGATCAAGGCTTGCCAAGGAGGCTGACTGCCACTGGCACTGTGATTGTATCAGTTCTTGACATAAATGACAACCCCCCTGTGTTTGAGTACCGTGA
ATATGGTGCCACCGTGTCTGAGGACATTCTTGTTGGAACTGAAGTTCTTCAAGTGTATGCAGCAAGTCGGGATATTGAAGCAAATGCAGAAATCACCTAC
TCAATAATAAGTGGAAATGAACATGGGAAATTCAGCATAGATTCTAAAACAGGGGCCGTATTTATCATTGAGAATCTGGATTATGAGAGCTCTCATGAGT
ATTACCTAACAGTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTGT
GTTCAGCCAAGACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTATGGCCGATGATGCCGATGGACCTTCCAAC
AGCCACATCCACTACTCAATTATAGATGGCAACCAAGGAAGCTCGTTCACAATTGACCCCGTCAGGGGAGAAGTCAAAGTGACCAAACTTCTCGACCGAG
AAACGATTTCAGGTTACACGCTCACGGTTCAAGCTTCTGATAATGGCAGTCCACCCAGAGTCAACACGACGACCGTGAACATCGATGTGTCCGATGTCAA
TGACAACGCGCCCGTCTTCTCCAGGGGAAACTACAGTGTCATTATCCAGGAAAATAAGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAG
GATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGAGAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCAT
CTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGATAATGGAAAGCCTCAGTTGTCATCTTTGACATACATTGACATTAG
GGTAATTGAGGAGAGCATCTATCCGCCTGCGATTTTGCCCCTGGAGATTTTCATCACCGCTTCTGGAGAAGAATACTCAGGTGGCGTCATTGGGAAGATC
CATGCCACAGACCAGGACGTGTATGATACTCTAACCTACAGTCTCGACCCTCAGATGGACAACCTGTTCTCTGTTTCCAGCACAGGGGGCAAGCTGATAG
CACACAAAAAGCTAGACATAGGGCAATACCTTCTCAATGTCAGCGTAACAGATGGGAAGTTCACGACGGTGGCCGACATCACAGTGCATATCAGACAAGT
CACACAGGAGATGTTGAACCACACCATCGCGATCCGCTTTGCCAACCTCACTCCGGAAGAATTCGTTGGTGACTACTGGCGCAACTTCCAGCGAGCTTTA
CGGAACATCCTGGGTGTGAGGAGGAACGACATACAGATTGTTAGTTTGCAGTCCTCTGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAAC
CAGGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCCGTGACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATT
CCAGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGTGTCTGTGGATGAAAGTGTGATGTCAACACACAGCACAGCCAGACTG
AGTTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAGGTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCCCTG
AGGGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCCAGCGGCAGGTTTGGTCAGTGCCCAGGAGATTCATCATGGAAGGC
TGCAGTACAAGTTTGACTGTGGAAGTGGCCCTGGAATTGTCTCTGTTCAGAGCATTCAGGTCAATGATGGGCAGTGGCACGCAGTGGCCCTGGAAGTGAA
TGGAAACTATGCTCGCTTGGTTCTAGACCAAGTTCATACTGCATCGGGCACAGCCCCAGGGACTCTGAAAACCCTGAACCTGGATAACTATGTGTTTTTT
GGTGGCCACATCCGTCAGCAGGGAACAAGGCATGGAAGAAGTCCTCAAGTTGGTAATGGTTTCAGGGGTTGTATGGACTCCATTTATTTGAATGGGCAGG
AGCTCCCTTTAAACAGCAAACCCAGAAGCTATGCACACATCGAAGAGTCGGTGGATGTATCTCCAGGCTGCTTCCTGACGGCCACGGAAGACTGCGCCAG
CAACCCTTGCCAGAATGGAGGCGTTTGCAATCCGTCACCTGCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGC
GTCAATCCGTGTTCCTCCAACCCATGCCTCTATGGGGGCACGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGA
GGTGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAAGAATGGCGGAACATGCTTTGACAGTTTGGATGGCGCCGTTTGTCAGTGTGATTCGGGTTT
TAGGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCTGGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACACGCACGGCTCCTATCACTGCAAC
TGCAGCCACGAGTACAGGGGACGTCACTGCGAGGATGCTGCGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCG
TTGTGTTTGTTGCAGGGATATTTTTACTGGTGGTGGTGTTTGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAA
GCACCTGGGACCCGCTACGGCTTTCTTGCAAAGACCGTATTTTGATTCCAAGCTAAATAAGAACATTTACTCAGACATACCACCCCAGGTGCCTGTCCGG
CCTATTTCCTACACCCCGAGTATTCCAAGTGACTCAAGAAACAATCTGGACCGAAATTCCTTCGAAGGATCTGCTATCCCAGAGCATCCCGAATTCAGCA
CTTTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGTGGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACCCCCTTCAAACTCCCCTTCTGA
CAGCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTATGACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCT
TCCCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGCAGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACAT
CAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGC
CATCGATACGGACTATTACCCTGGAGGCTACGACATCGAAAGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAGCTGATGAGCTACCACCGTTACCG
CCCGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTAGAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAACCGGCAGAGGTTCAACT
TGAATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTCTGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGAACCCCATGCCCCTTA
CCCGCCAGGGTATCAAAGACACTTCGAGGCGCCCGCTGTCGAGAGCATGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGC
TGCGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGAGCGGGGACGACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACA
CGGAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTTTAGTGAACCTAGAGGTGATGTGAGTAATCCGCGCTGTTCTTTGCAGCAGTGCTTCCAAGC
TTTTTTTGGTGAGCCGAATGGGCATGGCTGCGCTGGATCCTGCGCCTCTGGACGTGCTAGCCATTTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTC
ATCGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACATCTGTCTGTGTTAAAATAATCAAACGAAAAATCAGTCCTGTGTTGTCAGCATGATTCATGT
ATTTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATA
TTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTT
TTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTGTAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCT
TACATGGGTTGCTGTATTTAGAATTATAAACATTTTTCATTATTGGAAAGTGTAACGGGGACCTTCTGCATACCTGTTTAGAACCAAAACCACCATGACA
CAGTTTTTATAGTGTCTGTATATTTGTGATGCAATGGTCTTGTAAAGGTTTTTAATGAAAACTACCATTAGCCAGTCTTTCTTACTGACAATAAATTATT
AATAAAATACTTGA


Protein Sequence     (SEQ ID NO:270):
MIDPVLGSIKTAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETVSIGSFVGMVTAHSQSSVVYEIKDGNTGDAF
DINPHSGTIITQKALDFETLPIYTLIIQGTNMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADADKDSNALLVYH
IVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAEYAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVKVITVNATDADSSA
FSQLIYSITEGNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFTQDVYSAVVKENSTEAETLAVITAIGNPINE
PLFYHILNPDRRFKISRTSGVLSTTGTPFDREQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVGHVIRYVTAVDRDS
GRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGGNPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQVHSPVVHVQANSPE
GLKVFYSITDGDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNPPVFAQQSYAVTLSEASVIGTSVVQVRATDS
DSEPNRGISYQMFGNHSKSHDHFHVDSSTGLISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEARISEHAPHGHFVT
CVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPFYSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEYEVELAENAPLHTL
VMEVKTTDGDSGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFCTVNVILTDDNDNAPQFRATKYEVNIGSSAA
KGTSVVKVLASDADEGSNADITYAIEADSESVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPEMQLPKFSEPFYTF
TVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRLKLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVKDANDNSPVFE
SSPYEAFIVENLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKRDNYQIKVVASDHGEKIQLSSTAIVDVTVTD
VNDSPPRFTAEIYKGTVSEDDPQGGVIAILSTTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATDGTFSSKAIVE
VKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITYTLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRATDGGGRFCQAS
IVLTLEDVNDNAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGIIQLEKPLDRELQAVYTLSLKAVDQGLPRRL
TATGTVIVSVLDINDNPPVFEYREYGATVSEDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHEYYLTVEATDG
GTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVMADDADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKLLDRETISGYTLTV
QASDNGSPPRVNTTTVNIDVSDVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTIVTGNDEKAFEVNPQGVLLTSSAIKRKEKDH
YLLQVKVADNGKPQLSSLTYIDIRVIEESIYPPAILPLEIFITASGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGGKLIAHKKLDIGQY
LLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYWRNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLFVEKPGSAQISTKQ
LLHKINSSVTDIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVCLCKEGRCPPVHHGCEDDPCPEGSECVSDPW
EEKHTCVCPSGRFGQCPGDSSWKAAVQV*



SNP Information


Context              (SEQ ID NO:640):
ATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTT
S
TTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTA
Celera SNP ID:                hCV2332801
SNP Position Transcript:      2030
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,152|C,32) ; no_pop(G,-|C,-) ; no_pop(G,180|C,52)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:641):
TTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAACCACTGGCACGCCCTTCGATCGTGAGCAGCAGGAGGC
R
TTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTGAAGGTCATTGTAGAAGACCAAAATGATAATGCGCCGG
Celera SNP ID:                hCV25634420
SNP Position Transcript:      6337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,35|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 436,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 436,(A,GCG) (A,GCA)



Context              (SEQ ID NO:642):
TAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTTAC
R
TCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAATAA
Celera SNP ID:                hCV25472853
SNP Position Transcript:      5203
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,37)  african american(G,1|A,37)  total(G,2|A,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 58,(T,ACA) (T,ACG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,38)  african american(G,1|A,35)  total(G,3|A,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 58,(T,ACA) (T,ACG)



Context              (SEQ ID NO:643):
ACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATGAAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAAT
Y
AGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAG
Celera SNP ID:                hCV11684401
SNP Position Transcript:      3944
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,31)  total(T,1|C,71)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,20|T,2) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:644):
TAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTT
Y
AGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAG
Celera SNP ID:                hCV25634449
SNP Position Transcript:      2033
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,39|C,1)  african american(T,36|C,0)  total(T,75|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:645):
CTCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCC
Y
AAGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACA
Celera SNP ID:                hCV25474562
SNP Position Transcript:      8996
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,34)  african american(T,6|C,26)  total(T,8|C,60)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:270, 1323,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:646):
TTCCGATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTGTGGTCCA
Y
GTGCAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCA
Celera SNP ID:                hCV25634412
SNP Position Transcript:      6808
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,14)  total(T,1|C,47)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 593,(H,CAC) (H,CAT)



Context              (SEQ ID NO:647):
CTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGAAATTTCACTGAA
R
AAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAAGTTATCGTTCCGA
Celera SNP ID:                hCV25634419
SNP Position Transcript:      6613
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 528,(K,AAA) (K,AAG)



Context              (SEQ ID NO:648):
CACGGTCATGGTACGAGATCAAGATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACC
R
CTTCCTCCTACAAAGGGCGGGTTTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGT
Celera SNP ID:                hCV15975897
SNP Position Transcript:      4878
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1222|A,248) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:649):
GTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGAGAAGGCTTTTGAAGTTAACCCGCAAGGAG
Y
CCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGATAATGGAAAGCCTCAGTTGTCATCTTTGACA
Celera SNP ID:                hCV25634382
SNP Position Transcript:      10686
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1886,(V,GTC) (A,GCC)



Context              (SEQ ID NO:650):
ATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTCCAAAATTTTCAGAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCT
R
TTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCTTTACAGCCTGGTCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTT
Celera SNP ID:                hCV25471607
SNP Position Transcript:      8351
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,34)  african american(G,2|A,34)  total(G,6|A,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1108,(I,ATT) (V,GTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,36)  african american(G,3|A,35)  total(G,7|A,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1108,(I,ATT) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2840|G,108) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1108,(I,ATT) (V,GTT)



Context              (SEQ ID NO:651):
CCGGCCTTACCTCTGTCAAAATTAATGTGAAAGAAAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCAC
Y
GAGGCCGAAACATTAGCTGTCATTACTGCTATTGGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCC
Celera SNP ID:                hCV25634421
SNP Position Transcript:      6178
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2430|T,502) ; no_pop(C,-|T,-) ; no_pop(C,232|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 383,(T,ACC) (T,ACT)



Context              (SEQ ID NO:652):
AATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAA
Y
GGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAAC
Celera SNP ID:                hCV2332802
SNP Position Transcript:      1673
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|C,11)  african american(T,14|C,22)  total(T,41|C,33)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,0)  african american(T,11|C,19)  total(T,15|C,19)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2436|T,732) ; no_pop(C,-|T,-) ; no_pop(C,1380|T,684)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:653):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTG
Y
GGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGC
Celera SNP ID:                hCV15882945
SNP Position Transcript:      44
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:654):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCG
Y
GCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGC
Celera SNP ID:                hCV1552387
SNP Position Transcript:      42
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,92) ; no_pop(C,4|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:655):
ATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATC
R
TGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCA
Celera SNP ID:                hCV25634450
SNP Position Transcript:      1071
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,38|A,0)  total(G,77|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:656):
ATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGG
Y
GCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATA
Celera SNP ID:                hCV25922709
SNP Position Transcript:      580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,12|C,18)  total(T,12|C,48)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:657):
TGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAGATGCAAATGACAACA
R
CCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGA
Celera SNP ID:                hCV11684415
SNP Position Transcript:      8616
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,1008|A,16) ; no_pop(G,9|A,1) ; no_pop(G,329|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1196,(S,AGC) (N,AAC)



Context              (SEQ ID NO:658):
TCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCAATGTCATAGCTCCTCTGGACTTTGAGGCCCACCC
R
GCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGACGACATCAATGATAACCCTCCTG
Celera SNP ID:                hCV256990
SNP Position Transcript:      6943
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,12|A,4) ; no_pop(G,1356|A,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 638,(P,CCG) (P,CCA)



Context              (SEQ ID NO:659):
GTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATAAAGACTCAAATGCTTTGCTTGT
R
TATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAGTCTGGACTATGAAGAAACAAGTA
Celera SNP ID:                hCV16118913
SNP Position Transcript:      5623
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,560|A,2432) ; no_pop(G,-|A,-) ; no_pop(G,8|A,232)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 198,(V,GTA) (V,GTG)



Context              (SEQ ID NO:660):
GACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATC
R
CGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCGAAAACT
Celera SNP ID:                hCV2332738
SNP Position Transcript:      4006
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,106|G,78) ; no_pop(A,16|G,8) ; no_pop(A,-|G,-) ; no_pop(A,642
|G,1422)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:661):
TGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATT
S
TTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGAT
Celera SNP ID:                hCV11684367
SNP Position Transcript:      2772
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1622|C,1546) ; no_pop(G,-|C,-) ; no_pop(G,768|C,1344) ; no_po
p(G,60|C,180)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:662):
GTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGTACTTTTGGAGAAATAT
Y
GGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAAAGCTA
Celera SNP ID:                hCV25634401
SNP Position Transcript:      5017
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,38|C,0)  total(T,75|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:663):
CAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATC
R
TGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTT
Celera SNP ID:                hCV25634433
SNP Position Transcript:      2986
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,33|A,1)  total(G,71|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:664):
AGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGC
R
AAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGG
Celera SNP ID:                hCV25634442
SNP Position Transcript:      2096
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,35)  total(G,1|A,75)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:665):
GGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATT
W
CCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTG
Celera SNP ID:                hCV25922383
SNP Position Transcript:      823
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,36)  african american(T,1|A,37)  total(T,1|A,73)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:666):
CCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACA
K
TTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCT
Celera SNP ID:                hCV25473078
SNP Position Transcript:      181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|G,33)  african american(T,12|G,18)  total(T,17|G,51)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:667):
CATGGCAAATTTTTCATCGAACCGAAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACA
R
TGGTCGCCCTCAAAAGTCATCAACCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTT
Celera SNP ID:                hCV8241868
SNP Position Transcript:      4177
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:668):
GGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTTGC
Y
GTTGAAACTATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATGGCA
Celera SNP ID:                hCV11684419
SNP Position Transcript:      9103
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2162|T,982) ; no_pop(C,-|T,-) ; no_pop(C,140|T,100)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 1358,(A,GCC) (A,GCT)



Context              (SEQ ID NO:669):
TCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGAACCAA
Y
GGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGCTGGATTACAACTTTAAAGGAAC
Celera SNP ID:                hCV25634393
SNP Position Transcript:      8722
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,34)  total(T,1|C,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 1231,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,35)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 1231,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2454|T,518) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 1231,(N,AAC) (N,AAT)



Context              (SEQ ID NO:670):
CTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGA
S
GACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGTCTGTTGTTCAAGTTAGAGCCA
Celera SNP ID:                hCV25922456
SNP Position Transcript:      7021
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|C,37)  african american(G,1|C,27)  total(G,2|C,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 664,(D,GAC) (E,GAG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 664,(D,GAC) (E,GAG)



Context              (SEQ ID NO:671):
CAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGTACTTTTGGAGA
R
ATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAA
Celera SNP ID:                hCV25634402
SNP Position Transcript:      5012
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:672):
AGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACAT
Y
GAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACT
Celera SNP ID:                hCV25922451
SNP Position Transcript:      929
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,24)  african american(T,1|C,13)  total(T,1|C,37)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:673):
CCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCC
R
GAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACT
Celera SNP ID:                hCV31861349
SNP Position Transcript:      3378
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:674):
AAGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATG
R
GAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGAT
Celera SNP ID:                hCV8241865
SNP Position Transcript:      10656
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1876,(E,GAG) (G,GGG)



Context              (SEQ ID NO:675):
CCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAGATGGAGGAGGAAGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGA
Y
GTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGTGTTTGAAAACACAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAG
Celera SNP ID:                hCV16268486
SNP Position Transcript:      9550
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 1507,(D,GAT) (D,GAC)



Context              (SEQ ID NO:676):
TGGAAAGCCTCAGTTGTCATCTTTGACATACATTGACATTAGGGTAATTGAGGAGAGCATCTATCCGCCTGCGATTTTGCCCCTGGAGATTTTCATCACC
K
CTTCTGGAGAAGAATACTCAGGTGGCGTCATTGGGAAGATCCATGCCACAGACCAGGACGTGTATGATACTCTAACCTACAGTCTCGACCCTCAGATGGA
Celera SNP ID:                hCV16268488
SNP Position Transcript:      10859
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2010|T,954) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1944,(A,GCT) (S,TCT)



Context              (SEQ ID NO:677):
TATTACCTAACAGTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTG
Y
GTTCAGCCAAGACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTATGGCCGATGATGCCGATGGACCTTCCAAC
Celera SNP ID:                hCV25634385
SNP Position Transcript:      10200
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,2)  african american(T,15|C,1)  total(T,47|C,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1724,(V,GTG) (A,GCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,3)  african american(T,28|C,4)  total(T,63|C,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1724,(V,GTG) (A,GCG)



Context              (SEQ ID NO:678):
ACTGATGGCACCTTCTCATCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTA
Y
TCCTGAAGACGTCCTTCCTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCA
Celera SNP ID:                hCV25922559
SNP Position Transcript:      9294
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,34|C,0)  total(T,71|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1422,(I,ATT) (T,ACT)



Context              (SEQ ID NO:679):
AACCAAGCGGAGTATGATTTAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACA
R
CGCCTCTCCGAAGTTTACATCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCA
Celera SNP ID:                hCV25634394
SNP Position Transcript:      5184
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,4|A,28)  total(G,7|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 52,(N,AAC) (S,AGC)



Context              (SEQ ID NO:680):
CACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGT
R
TTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCA
Celera SNP ID:                hCV25634441
SNP Position Transcript:      2223
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,23|A,1)  total(G,55|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:681):
CGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGA
Y
TCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAA
Celera SNP ID:                hCV25634432
SNP Position Transcript:      172
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,31|C,1)  total(T,69|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:682):
GTCATGATCATTTTCATGTAGACAGCAGCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGC
W
GTTGATGGTGGTATGCCCACGCTGAGCAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATG
Celera SNP ID:                hCV27484446
SNP Position Transcript:      7285
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,280|A,1202) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:270, 752,(A,GCA) (A,GCT)



Context              (SEQ ID NO:683):
CTGAGTTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAGGTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCC
M
TGAGGGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCCAGCGGCAGGTTTGGTCAGTGCCCAGGAGATTCATCATGGAAG
Celera SNP ID:                hCV31861387
SNP Position Transcript:      11598
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 2190,(P,CCT) (H,CAT)



Context              (SEQ ID NO:684):
CTCTGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAACCAGGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCC
R
TGACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATTCCAGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGT
Celera SNP ID:                hCV25634478
SNP Position Transcript:      11354
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,32|A,0)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 2109,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,30|A,0)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 2109,(V,GTG) (M,ATG)



Context              (SEQ ID NO:685):
GGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACT
R
TCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTT
Celera SNP ID:                hCV2730004
SNP Position Transcript:      1632
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,8) ; no_pop(A,-|G,-) ; no_pop(A,236|G,3
96)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:686):
TTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAG
K
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
Celera SNP ID:                hCV2730005
SNP Position Transcript:      1400
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|G,28)  african american(T,26|G,8)  total(T,36|G,36)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,22|G,8)  total(T,25|G,45)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,662|T,2306) ; no_pop(G,12|T,6) ; no_pop(G,-|T,-) ; no_pop(G,8
32|T,1872)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:687):
CTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGC
Y
GGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATT
Celera SNP ID:                hCV2730006
SNP Position Transcript:      1274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,33)  total(T,4|C,70)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:688):
TCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCC
H
AGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAG
Celera SNP ID:                hCV11684418
SNP Position Transcript:      8997
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:270, 1323,(L,CTA) (Q,CAA)



Context              (SEQ ID NO:689):
GCGTTTGCAATCCGTCACCTGCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGCGTCAATCCGTGTTCCTCCAA
S
CCATGCCTCTATGGGGGCACGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACT
Celera SNP ID:                hCV1116673
SNP Position Transcript:      12221
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,36)  african american(G,1|C,35)  total(G,1|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,184) ; no_pop(G,10|C,962) ; no_pop(G,-|C,-) ; no_pop(G,-|
C,-)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:690):
GTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAAGAATGGCGGAACATGCTTTGACAGTTTGGATGGCGC
Y
GTTTGTCAGTGTGATTCGGGTTTTAGGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCTGGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACA
Celera SNP ID:                hCV16195244
SNP Position Transcript:      12377
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,32)  total(T,2|C,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2738|T,234) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:691):
AGTACAGGGGACGTCACTGCGAGGATGCTGCGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCGTTGTGTTTGT
Y
GCAGGGATATTTTTACTGGTGGTGGTGTTTGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAAGCACCTGGGAC
Celera SNP ID:                hCV25634451
SNP Position Transcript:      12611
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|C,0)  african american(T,35|C,1)  total(T,71|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,35|C,1)  total(T,73|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:692):
CAGAGCATCCCGAATTCAGCACTTTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGTGGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACC
Y
CCTTCAAACTCCCCTTCTGACAGCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTATGACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGA
Celera SNP ID:                hCV27495242
SNP Position Transcript:      12980
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,631|T,119) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:693):
CAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCTTCCCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGCAGTC
Y
CTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCC
Celera SNP ID:                hCV11684434
SNP Position Transcript:      13145
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,24|C,12)  african american(T,13|C,23)  total(T,37|C,35)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1084|C,2084) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:694):
TGCAGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACA
R
GAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCG
Celera SNP ID:                hCV25922531
SNP Position Transcript:      13238
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,3|A,31)  total(G,3|A,69)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:695):
ACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACC
Y
CTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCGAAAGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAG
Celera SNP ID:                hCV25922596
SNP Position Transcript:      13277
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,414|C,1806) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:696):
GCTACCACCGTTACCGCCCGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTAGAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAAC
Y
GGCAGAGGTTCAACTTGAATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTCTGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGA
Celera SNP ID:                hCV25634430
SNP Position Transcript:      13485
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:697):
TGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGCTGCGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGAGCGGGGA
M
GACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACACGGAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTTTAGTGAAC
Celera SNP ID:                hCV9476824
SNP Position Transcript:      13748
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,10|A,1) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:698):
TTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTCATCGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACATCTGTCTGTGTTAAAATAATCAAAC
R
AAAAATCAGTCCTGTGTTGTCAGCATGATTCATGTATTTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTTTTTTTGTAAATTTTATGTACAGATT
Celera SNP ID:                hCV29419312
SNP Position Transcript:      14065
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:699):
CTCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGT
G
TCAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTT
Celera SNP ID:                hCV11250372
SNP Position Transcript:      14235
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:700):
TCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTG
K
CAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTC
Celera SNP ID:                hCV29748986
SNP Position Transcript:      14236
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:701):
CTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGT
Y
AGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCA
Celera SNP ID:                hCV1116675
SNP Position Transcript:      14237
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|-,-) ; no_pop(C,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:702):
AGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGTGCCATTATCTAGCACCCTGA
T
TTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTGTAGTCATTCATTTCTAGCTGT
Celera SNP ID:                hCV11250373
SNP Position Transcript:      14261
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Context              (SEQ ID NO:703):
TGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGT
R
TAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCTTACATGGGTTGCTGTATTTAGAATTATAAACATTTTTCAT
Celera SNP ID:                hCV27490985
SNP Position Transcript:      14340
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:270, None



Gene Number:                  6
Celera Gene:                  hCG16250 - 83000099381671
Celera Transcript:            hCT2324647 - 83000099381732
Public Transcript Accession:
Celera Protein:               hCP1887875 - 197000069431139
Public Protein Accession:
Gene Symbol:                  FAT
Protein Name:                  FAT tumor suppressor homolog 1 (Drosophila)
Celera Genomic Axis:          GA_x5YUV32W706(3267142..3414765)
Chromosome:                   4
OMIM NUMBER:                  600976
OMIM Information:


Transcript Sequence  (SEQ ID NO:10):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCT
GCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACAGTTAAGCAATGGGGAGACAT
TTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCG
AGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAG
GTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAAT
ACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGC
AGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGT
CAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATA
GTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCA
GCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCC
AGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGA
ACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGG
CTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGT
TTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGG
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
TAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGC
TTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAAT
TTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGA
TTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAA
AATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTAT
CAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGG
TGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAA
CTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTC
GATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTT
TCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAAC
AGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCG
TGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTAC
ATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTCTTACAGACACAGACACATTTTCAATTGA
CAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAG
CCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAG
AGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGA
AGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAA
GACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTG
TGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCGGAAGAGATGGGGAGATCCGATA
CTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACTGGACCGTGAATCGACCTCCCAT
TATTGGCTAACAGTCTTTGCAACCGATCAGGGTGTCGTGCCTCTTTCATCGTTCATAGAGATCTACATAGAGGTTGAGGATGTCAATGACAATGCACCAC
AGACATCAGAGCCTGTTTATTACCCAGAAATCATGGAAAATTCTCCTAAAGATGTATCTGTGGTCCAGATCGAGGCATTTGATCCAGATTCGAGCTCTAA
TGACAAGCTCATGTACAAAATTACAAGTGGAAATCCACAAGGATTCTTTTCAATACATCCTAAAACAGGTCTCATCACAACTACGTCAAGGAAGCTAGAC
CGAGAACAGCAAGATGAACACATATTAGAGGTTACTGTGACAGACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATG
AAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCT
CTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCG
AAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACAATGGTCGCCCTCAAAAGTCATCAA
CCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTTACCTTTACTGTGATGGAAAGTGA
CCCCGTTGCTCACATGATTGGAGTAATATCTGTGGAGCCTCCTGGCATACCCCTTTGGTTTGACATCACTGGTGGCAACTACGACAGTCACTTCGATGTG
GACAAGGGAACTGGAACCATCATTGTTGCCAAACCTCTTGATGCAGAACAGAAGTCAAACTACAACCTCACAGTCGAGGCTACAGATGGAACCACCACTA
TCCTCACTCAGGTATTCATCAAAGTAATAGACACAAATGACCATCGTCCTCAGTTTTCTACATCAAAGTATGAAGTTGTTATTCCTGAAGATACAGCGCC
AGAAACAGAAATTTTGCAAATCAGTGCTGTGGATCAGGATGAGAAAAACAAACTAATCTACACTCTGCAGAGCAGTAGAGATCCACTGAGTCTCAAGAAA
TTTCGTCTTGATCCTGCAACCGGCTCTCTCTATACTTCTGAGAAACTGGATCATGAAGCTGTTCACCAGCACACCCTCACGGTCATGGTACGAGATCAAG
ATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACCGCTTCCTCCTACAAAGGGCGGGT
TTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGA
AATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAA
AAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTTACATCAAAAGA
ATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAATAAAAGATGGA
AATACAGGTGATGCTTTTGATATTAATCCACATTCTGGAACTATCATCACTCAGAAAGCCCTGGACTTTGAAACTTTGCCCATTTACACATTGATAATAC
AAGGAACTAACATGGCTGGTTTGTCCACTAATACAACGGTTCTAGTTCACTTGCAGGATGAGAATGACAACGCGCCAGTTTTTATGCAGGCAGAATATAC
AGGACTCATTAGTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATAAAGACTCAAAT
GCTTTGCTTGTATATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAGTCTGGACTATG
AAGAAACAAGTATTTTTCACTTTACCGTCCAAGTGCATGACATGGGAACCCCACGTTTATTTGCTGAGTATGCAGCGAATGTAACAGTACATGTAATTGA
CATTAATGACTGCCCCCCTGTGTTTGCCAAGCCATTATATGAAGCATCTCTTTTGTTACCAACATACAAAGGAGTAAAAGTCATCACAGTAAATGCTACA
GATGCTGATTCAAGTGCATTCTCACAGTTGATTTACTCCATCACCGAAGGCAACATCGGGGAGAAGTTTTCTATGGACTACAAGACTGGTGCTCTCACTG
TCCAAAACACAACTCAGTTAAGAAGCCGCTACGAGCTAACCGTTAGAGCTTCCGATGGCAGATTTGCCGGCCTTACCTCTGTCAAAATTAATGTGAAAGA
AAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCACCGAGGCCGAAACATTAGCTGTCATTACTGCTATT
GGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAACCACTGGCACGC
CCTTCGATCGTGAGCAGCAGGAGGCGTTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTGAAGGTCATTGT
AGAAGACCAAAATGATAATGCGCCGGTGTTTGTCAACCTTCCCTACTACGCCGTTGTTAAAGTGGACACTGAGGTGGGCCATGTCATTCGCTATGTCACT
GCTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGAAATTTCACTGA
AAAAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAAGTTATCGTTCC
GATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTGTGGTCCACGTG
CAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCAATG
TCATAGCTCCTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACAT
CATAGTAGACGACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGTCTGTTGTTCAA
GTTAGAGCCACCGATTCTGATTCAGAACCAAATAGAGGAATCTCATACCAGATGTTTGGGAATCACAGCAAGAGTCATGATCATTTTCATGTAGACAGCA
GCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGCAGTTGATGGTGGTATGCCCACGCTGAG
CAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATGAAGCCAGAATTAGCGAGCACGCCCCT
CATGGGCATTTCGTGACCTGTGTAAAAGCCTATGATGCAGACAGTTCAGACATAGACAAGTTGCAGTATTCCATTCTGTCTGGCAATGATCATAAACATT
TTGTCATTGACAGTGCAACAGGGATTATCACCCTCTCAAACCTGCACCGGCACGCCCTGAAGCCATTTTACAGTCTTAACCTGTCAGTGTCTGATGGAGT
TTTTAGAAGTTCCACCCAGGTTCATGTAACTGTAATTGGAGGCAATTTGCACAGTCCTGCTTTCCTTCAGAACGAATATGAAGTGGAACTAGCTGAAAAC
GCTCCCCTACATACCCTGGTGATGGAGGTGAAAACTACGGATGGGGATTCTGGTATTTATGGTCACGTTACTTACCATATTGTAAATGACTTTGCCAAAG
ACAGATTTTACATAAATGAGAGAGGACAGATATTTACTTTGGAAAAACTTGATCGAGAAACCCCGGCGGAGAAAGTGATCTCAGTCCGTTTAATGGCTAA
GGATGCTGGAGGAAAAGTTGCTTTCTGCACCGTGAATGTCATCCTTACAGATGACAATGACAATGCACCACAATTTCGAGCAACCAAATACGAAGTGAAT
ATCGGGTCCAGTGCTGCTAAAGGGACTTCAGTCGTTAAAGTTCTTGCAAGTGATGCCGATGAGGGCTCCAATGCCGACATCACCTATGCCATTGAAGCAG
ACTCTGAAAGTGTAAAAGAGAATTTGGAAATTAACAAACTGTCCGGCGTAATCACTACAAAGGAGAGCCTCATTGGCTTGGAAAATGAATTCTTCACTTT
CTTTGTTAGAGCTGTGGATAATGGGTCTCCATCAAAAGAATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTCCAAAATTTTCA
GAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCTATTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCTTTACAGCCTGG
TCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTTTGTGATTGACAGACAGAGCGGGAGACTGAAGTTGGAGAAGAGTCTTGATCATGAGACAAC
TAAGTGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAGATGCAAATGAC
AACAGCCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACT
CAGGAACCAACGGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGCTGGATTACAAC
TTTAAAGGAACTTGACCATGAAAAGAGAGACAATTACCAGATTAAAGTGGTTGCATCAGATCATGGTGAAAAGATCCAGCTATCCTCCACAGCCATTGTG
GATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCCAAGGTGGGGTGATTG
CCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTTGCCGTTGAAAC
TATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATGGCACCTTCTCA
TCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTATTCCTGAAGACGTCCTTC
CTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCAGGTGCAGAAAAATTCAA
ACTAAATCCAGACACAGGTGAACTGAAAACGTCAACCCCCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAGATGGAGGAGGA
AGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGATGTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGTGTTTGAAAACA
CAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAGATGCCGACGCAGGATTAAATCGGAAGATTTTATACTCACTGATTGACTCTGCTGATGGGCA
GTTCTCCATTAACGAATTATCTGGAATTATTCAGTTAGAAAAACCTTTGGACAGAGAACTCCAGGCAGTATACACCCTCTCTTTGAAAGCTGTGGATCAA
GGCTTGCCAAGGAGGCTGACTGCCACTGGCACTGTGATTGTATCAGTTCTTGACATAAATGACAACCCCCCTGTGTTTGAGTACCGTGAATATGGTGCCA
CCGTGTCTGAGGACATTCTTGTTGGAACTGAAGTTCTTCAAGTGTATGCAGCAAGTCGGGATATTGAAGCAAATGCAGAAATCACCTACTCAATAATAAG
TGGAAATGAACATGGGAAATTCAGCATAGATTCTAAAACAGGGGCCGTATTTATCATTGAGAATCTGGATTATGAGAGCTCTCATGAGTATTACCTAACA
GTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTGTGTTCAGCCAAG
ACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTACACGCTCACGGTTCAAGCTTCTGATAATGGCAGTCCACCC
AGAGTCAACACGACGACCGTGAACATCGATGTGTCCGATGTCAATGACAACGCGCCCGTCTTCTCCAGGGGAAACTACAGTGTCATTATCCAGGAAAATA
AGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGA
GAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGAT
AATGGAAAGCCTCAGTTGTCATCTTTGACATACATTGACATTAGGGTAATTGAGGAGAGCATCTATCCGCCTGCGATTTTGCCCCTGGAGATTTTCATCA
CCGCTTCTGGAGAAGAATACTCAGGTGGCGTCATTGGGAAGATCCATGCCACAGACCAGGACGTGTATGATACTCTAACCTACAGTCTCGACCCTCAGAT
GGACAACCTGTTCTCTGTTTCCAGCACAGGGGGCAAGCTGATAGCACACAAAAAGCTAGACATAGGGCAATACCTTCTCAATGTCAGCGTAACAGATGGG
AAGTTCACGACGGTGGCCGACATCACAGTGCATATCAGACAAGTCACACAGGAGATGTTGAACCACACCATCGCGATCCGCTTTGCCAACCTCACTCCGG
AAGAATTCGTTGGTGACTACTGGCGCAACTTCCAGCGAGCTTTACGGAACATCCTGGGTGTGAGGAGGAACGACATACAGATTGTTAGTTTGCAGTCCTC
TGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAACCAGGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCCGTG
ACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATTCCAGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGTGT
CTGTGGATGAAAGTGTGATGTCAACACACAGCACAGCCAGACTGAGTTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAG
GTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCCCTGAGGGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCC
AGCGGCAGGTTTGGTCAGTGCCCAGGCAGAGGTTGCAGTGAGTTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTGTCTCAAAAAA
CAAAAACTGTTACAGTTTATAGAGACATCCTACATGTGTTTCAAATTCATCATGGAAGGCTGCAGTACAAGTTTGACTGTGGAAGTGGCCCTGGAATTGT
CTCTGTTCAGAGCATTCAGGTCAATGATGGGCAGTGGCACGCAGTGGCCCTGGAAGTGAATGGAAACTATGCTCGCTTGGTTCTAGACCAAGTTCATACT
GCATCGGGCACAGCCCCAGGGACTCTGAAAACCCTGAACCTGGATAACTATGTGTTTTTTGGTGGCCACATCCGTCAGCAGGGAACAAGGCATGGAAGAA
GTCCTCAAGTTGGTAATGGTTTCAGGGGTTGTATGGACTCCATTTATTTGAATGGGCAGGAGCTCCCTTTAAACAGCAAACCCAGAAGCTATGCACACAT
CGAAGAGTCGGTGGATGTATCTCCAGGCTGCTTCCTGACGGCCACGGAAGACTGCGCCAGCAACCCTTGCCAGAATGGAGGCGTTTGCAATCCGTCACCT
GCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGCGTCAATCCGTGTTCCTCCAACCCATGCCTCTATGGGGGCA
CGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAA
GAATGGCGGAACATGCTTTGACAGTTTGGATGGCGCCGTTTGTCAGTGTGATTCGGGTTTTAGGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCT
GGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACACGCACGGCTCCTATCACTGCAACTGCAGCCACGAGTACAGGGGACGTCACTGCGAGGATGCTG
CGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCGTTGTGTTTGTTGCAGGGATATTTTTACTGGTGGTGGTGTT
TGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAAGCACCTGGGACCCGCTACGGCTTTCTTGCAAAGACCGTAT
TTTGATTCCAAGCTAAATAAGAACATTTACTCAGACATACCACCCCAGGTGCCTGTCCGGCCTATTTCCTACACCCCGAGTATTCCAAGTGACTCAAGAA
ACAATCTGGACCGAAATTCCTTCGAAGGATCTGCTATCCCAGAGCATCCCGAATTCAGCACTTTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGT
GGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACCCCCTTCAAACTCCCCTTCTGACAGCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTAT
GACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCTTCCCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGC
AGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGA
GTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCGAA
AGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAGCTGATGAGCTACCACCGTTACCGCCCGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTA
GAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAACCGGCAGAGGTTCAACTTGAATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTC
TGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGAACCCCATGCCCCTTACCCGCCAGGGTATCAAAGACACTTCGAGGCGCCCGCTGTC
GAGAGCATGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGCTGCGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGA
GCGGGGACGACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACACGGAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTT
TAGTGAACCTAGAGGTGATGTGAGTAATCCGCGCTGTTCTTTGCAGCAGTGCTTCCAAGCTTTTTTTGGTGAGCCGAATGGGCATGGCTGCGCTGGATCC
TGCGCCTCTGGACGTGCTAGCCATTTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTCATCGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACAT
CTGTCTGTGTTAAAATAATCAAACGAAAAATCAGTCCTGTGTTGTCAGCATGATTCATGTATTTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTT
TTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGT
GCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTG
TAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCTTACATGGGTTGCTGTATTTAGAATTATAAACATTTTTCAT
TATTGGAAAGTGTAACGGGGACCTTCTGCATACCTGTTTAGAACCAAAACCACCATGACACAGTTTTTATAGTGTCTGTATATTTGTGATGCAATGGTCT
TGTAAAGGTTTTTAATGAAAACTACCATTAGCCAGTCTTTCTTACTGACAATAAATTATTAATAAAATACTTGA


Protein Sequence     (SEQ ID NO:271):
MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRT
KGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPT
SGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRY
VFKRTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTY
SIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
LVQYQIEAGNELDLFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVE
DIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIP
QKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSILTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
AREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLT
VRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDAGRDGEIRYSIRDGSGVGVFKIGEETGVIETSDRLDRE
STSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTSEPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKILDENDNKPQFLQKFYKIRLPEREKPDRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKF
FIEPKTGVVSSKRFSAAGEYDILSIKAVDNGRPQKSSTTRLHIEWISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVISVEPPGIPLWFDITGGNYDS
HFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILTQVFIKVIDTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVSDTNDHAPWFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYS
IESGNIGNSFMIDPVLGSIKTAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETVSIGSFVGMVTAHSQSSVVYE
IKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGTNMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADAD
KDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAEYAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVKVIT
VNATDADSSAFSQLIYSITEGNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFTQDVYSAVVKENSTEAETLAV
ITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFDREQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVGHVI
RYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGGNPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQVHSP
VVHVQANSPEGLKVFYSITDGDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNPPVFAQQSYAVTLSEASVIGT
SVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTGLISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEARIS
EHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPFYSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEYEVE
LAENAPLHTLVMEVKTTDGDSGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFCTVNVILTDDNDNAPQFRATK
YEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSESVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPEMQL
PKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRLKLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVK
DANDNSPVFESSPYEAFIVENLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKRDNYQIKVVASDHGEKIQLSS
TAIVDVTVTDVNDSPPRFTAEIYKGTVSEDDPQGGVIAILSTTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATD
GTFSSKAIVEVKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITYTLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRAT
DGGGRFCQASIVLTLEDVNDNAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGIIQLEKPLDRELQAVYTLSLK
AVDQGLPRRLTATGTVIVSVLDINDNPPVFEYREYGATVSEDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHE
YYLTVEATDGGTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVTRSRFKLLIMAVHPESTRRP*



SNP Information


Context              (SEQ ID NO:704):
ATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTT
S
TTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTA
Celera SNP ID:                hCV2332801
SNP Position Transcript:      2030
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,152|C,32) ; no_pop(G,-|C,-) ; no_pop(G,180|C,52)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 614,(L,TTG) (F,TTC)



Context              (SEQ ID NO:705):
TTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAACCACTGGCACGCCCTTCGATCGTGAGCAGCAGGAGGC
R
TTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTGAAGGTCATTGTAGAAGACCAAAATGATAATGCGCCGG
Celera SNP ID:                hCV25634420
SNP Position Transcript:      6326
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,35|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2046,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2046,(A,GCG) (A,GCA)



Context              (SEQ ID NO:706):
TAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTTAC
R
TCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAATAA
Celera SNP ID:                hCV25472853
SNP Position Transcript:      5192
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,37)  african american(G,1|A,37)  total(G,2|A,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1668,(T,ACA) (T,ACG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,38)  african american(G,1|A,35)  total(G,3|A,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1668,(T,ACA) (T,ACG)



Context              (SEQ ID NO:707):
ACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATGAAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAAT
Y
AGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAG
Celera SNP ID:                hCV11684401
SNP Position Transcript:      3944
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,31)  total(T,1|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1252,(I,ATC) (I,ATT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,20|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1252,(I,ATC) (I,ATT)



Context              (SEQ ID NO:708):
TAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTT
Y
AGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAG
Celera SNP ID:                hCV25634449
SNP Position Transcript:      2033
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,39|C,1)  african american(T,36|C,0)  total(T,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 615,(F,TTT) (F,TTC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 615,(F,TTT) (F,TTC)



Context              (SEQ ID NO:709):
CTCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCC
Y
AAGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACA
Celera SNP ID:                hCV25474562
SNP Position Transcript:      8985
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,34)  african american(T,6|C,26)  total(T,8|C,60)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:271, 2933,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:710):
TTCCGATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTGTGGTCCA
Y
GTGCAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCA
Celera SNP ID:                hCV25634412
SNP Position Transcript:      6797
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,14)  total(T,1|C,47)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2203,(H,CAC) (H,CAT)



Context              (SEQ ID NO:711):
CTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGAAATTTCACTGAA
R
AAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAAGTTATCGTTCCGA
Celera SNP ID:                hCV25634419
SNP Position Transcript:      6602
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2138,(K,AAA) (K,AAG)



Context              (SEQ ID NO:712):
CACGGTCATGGTACGAGATCAAGATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACC
R
CTTCCTCCTACAAAGGGCGGGTTTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGT
Celera SNP ID:                hCV15975897
SNP Position Transcript:      4878
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1222|A,248) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1564,(A,GCT) (T,ACT)



Context              (SEQ ID NO:713):
ATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTCCAAAATTTTCAGAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCT
R
TTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCTTTACAGCCTGGTCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTT
Celera SNP ID:                hCV25471607
SNP Position Transcript:      8340
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,34)  african american(G,2|A,34)  total(G,6|A,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2718,(I,ATT) (V,GTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,36)  african american(G,3|A,35)  total(G,7|A,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2718,(I,ATT) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2840|G,108) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2718,(I,ATT) (V,GTT)



Context              (SEQ ID NO:714):
CCGGCCTTACCTCTGTCAAAATTAATGTGAAAGAAAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCAC
Y
GAGGCCGAAACATTAGCTGTCATTACTGCTATTGGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCC
Celera SNP ID:                hCV25634421
SNP Position Transcript:      6167
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2430|T,502) ; no_pop(C,-|T,-) ; no_pop(C,232|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1993,(T,ACC) (T,ACT)



Context              (SEQ ID NO:715):
AATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAA
Y
GGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAAC
Celera SNP ID:                hCV2332802
SNP Position Transcript:      1673
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|C,11)  african american(T,14|C,22)  total(T,41|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 495,(N,AAT) (N,AAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,0)  african american(T,11|C,19)  total(T,15|C,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 495,(N,AAT) (N,AAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2436|T,732) ; no_pop(C,-|T,-) ; no_pop(C,1380|T,684)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 495,(N,AAT) (N,AAC)



Context              (SEQ ID NO:716):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTG
Y
GGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGC
Celera SNP ID:                hCV15882945
SNP Position Transcript:      44
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:717):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCG
Y
GCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGC
Celera SNP ID:                hCV1552387
SNP Position Transcript:      42
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,92) ; no_pop(C,4|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:718):
ATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATC
R
TGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCA
Celera SNP ID:                hCV25634450
SNP Position Transcript:      1071
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,38|A,0)  total(G,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 295,(V,GTG) (M,ATG)



Context              (SEQ ID NO:719):
ATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGG
Y
GCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATA
Celera SNP ID:                hCV25922709
SNP Position Transcript:      580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,12|C,18)  total(T,12|C,48)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 131,(A,GCG) (V,GTG)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 131,(A,GCG) (V,GTG)



Context              (SEQ ID NO:720):
TGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAGATGCAAATGACAACA
R
CCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGA
Celera SNP ID:                hCV11684415
SNP Position Transcript:      8605
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,1008|A,16) ; no_pop(G,9|A,1) ; no_pop(G,329|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2806,(S,AGC) (N,AAC)



Context              (SEQ ID NO:721):
TCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCAATGTCATAGCTCCTCTGGACTTTGAGGCCCACCC
R
GCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGACGACATCAATGATAACCCTCCTG
Celera SNP ID:                hCV256990
SNP Position Transcript:      6932
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,12|A,4) ; no_pop(G,1356|A,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2248,(P,CCG) (P,CCA)



Context              (SEQ ID NO:722):
GTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATAAAGACTCAAATGCTTTGCTTGT
R
TATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAGTCTGGACTATGAAGAAACAAGTA
Celera SNP ID:                hCV16118913
SNP Position Transcript:      5612
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,560|A,2432) ; no_pop(G,-|A,-) ; no_pop(G,8|A,232)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1808,(V,GTA) (V,GTG)



Context              (SEQ ID NO:723):
GACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATC
R
CGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCGAAAACT
Celera SNP ID:                hCV2332738
SNP Position Transcript:      4006
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,106|G,78) ; no_pop(A,16|G,8) ; no_pop(A,-|G,-) ; no_pop(A,642
|G,1422)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1273,(H,CAC) (R,CGC)



Context              (SEQ ID NO:724):
TGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATT
S
TTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGAT
Celera SNP ID:                hCV11684367
SNP Position Transcript:      2772
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1622|C,1546) ; no_pop(G,-|C,-) ; no_pop(G,768|C,1344) ; no_po
p(G,60|C,180)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 862,(L,CTT) (V,GTT)



Context              (SEQ ID NO:725):
AATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGAAATAT
Y
GGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAAAGCTA
Celera SNP ID:                hCV25634401
SNP Position Transcript:      5006
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,38|C,0)  total(T,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 1606,(I,ATT) (I,ATC)



Context              (SEQ ID NO:726):
CAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATC
R
TGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTT
Celera SNP ID:                hCV25634433
SNP Position Transcript:      2986
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,33|A,1)  total(G,71|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 933,(R,CGT) (H,CAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 933,(R,CGT) (H,CAT)



Context              (SEQ ID NO:727):
AGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGC
R
AAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGG
Celera SNP ID:                hCV25634442
SNP Position Transcript:      2096
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,35)  total(G,1|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 636,(A,GCA) (A,GCG)



Context              (SEQ ID NO:728):
GGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATT
W
CCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTG
Celera SNP ID:                hCV25922383
SNP Position Transcript:      823
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,36)  african american(T,1|A,37)  total(T,1|A,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 212,(Y,TAC) (F,TTC)



Context              (SEQ ID NO:729):
CCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACA
K
TTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCT
Celera SNP ID:                hCV25473078
SNP Position Transcript:      181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|G,33)  african american(T,12|G,18)  total(T,17|G,51)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:730):
CATGGCAAATTTTTCATCGAACCGAAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACA
R
TGGTCGCCCTCAAAAGTCATCAACCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTT
Celera SNP ID:                hCV8241868
SNP Position Transcript:      4177
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1330,(N,AAT) (S,AGT)



Context              (SEQ ID NO:731):
GGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTTGC
Y
GTTGAAACTATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATGGCA
Celera SNP ID:                hCV11684419
SNP Position Transcript:      9092
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2162|T,982) ; no_pop(C,-|T,-) ; no_pop(C,140|T,100)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2968,(A,GCC) (A,GCT)



Context              (SEQ ID NO:732):
TCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGAACCAA
Y
GGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGCTGGATTACAACTTTAAAGGAAC
Celera SNP ID:                hCV25634393
SNP Position Transcript:      8711
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,34)  total(T,1|C,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2841,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,35)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2841,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2454|T,518) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2841,(N,AAC) (N,AAT)



Context              (SEQ ID NO:733):
CTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGA
S
GACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGTCTGTTGTTCAAGTTAGAGCCA
Celera SNP ID:                hCV25922456
SNP Position Transcript:      7010
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|C,37)  african american(G,1|C,27)  total(G,2|C,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2274,(D,GAC) (E,GAG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2274,(D,GAC) (E,GAG)



Context              (SEQ ID NO:734):
TTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGA
R
ATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAA
Celera SNP ID:                hCV25634402
SNP Position Transcript:      5001
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1605,(N,AAT) (D,GAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1605,(N,AAT) (D,GAT)



Context              (SEQ ID NO:735):
AGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACAT
Y
GAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACT
Celera SNP ID:                hCV25922451
SNP Position Transcript:      929
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,24)  african american(T,1|C,13)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 247,(I,ATC) (I,ATT)



Context              (SEQ ID NO:736):
CCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCC
R
GAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACT
Celera SNP ID:                hCV31861349
SNP Position Transcript:      3378
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1064,(G,GGA) (R,AGA)



Context              (SEQ ID NO:737):
CCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAGATGGAGGAGGAAGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGA
Y
GTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGTGTTTGAAAACACAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAG
Celera SNP ID:                hCV16268486
SNP Position Transcript:      9539
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 3117,(D,GAT) (D,GAC)



Context              (SEQ ID NO:738):
TATTACCTAACAGTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTG
Y
GTTCAGCCAAGACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTACACGCTCACGGTTCAAGCTTCTGATAATG
Celera SNP ID:                hCV25634385
SNP Position Transcript:      10189
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,2)  african american(T,15|C,1)  total(T,47|C,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 3334,(V,GTG) (A,GCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,3)  african american(T,28|C,4)  total(T,63|C,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 3334,(V,GTG) (A,GCG)



Context              (SEQ ID NO:739):
ACTGATGGCACCTTCTCATCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTA
Y
TCCTGAAGACGTCCTTCCTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCA
Celera SNP ID:                hCV25922559
SNP Position Transcript:      9283
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,34|C,0)  total(T,71|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 3032,(I,ATT) (T,ACT)



Context              (SEQ ID NO:740):
AACCAAGCGGAGTATGATTTAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACA
R
CGCCTCTCCGAAGTTTACATCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCA
Celera SNP ID:                hCV25634394
SNP Position Transcript:      5173
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,4|A,28)  total(G,7|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 1662,(N,AAC) (S,AGC)



Context              (SEQ ID NO:741):
CACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGT
R
TTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCA
Celera SNP ID:                hCV25634441
SNP Position Transcript:      2223
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,23|A,1)  total(G,55|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 679,(V,GTT) (I,ATT)



Context              (SEQ ID NO:742):
CGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGA
Y
TCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAA
Celera SNP ID:                hCV25634432
SNP Position Transcript:      172
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,31|C,1)  total(T,69|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:743):
GTCATGATCATTTTCATGTAGACAGCAGCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGC
W
GTTGATGGTGGTATGCCCACGCTGAGCAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATG
Celera SNP ID:                hCV27484446
SNP Position Transcript:      7274
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,280|A,1202) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 2362,(A,GCA) (A,GCT)



Context              (SEQ ID NO:744):
GGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACT
R
TCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTT
Celera SNP ID:                hCV2730004
SNP Position Transcript:      1632
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,8) ; no_pop(A,-|G,-) ; no_pop(A,236|G,3
96)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 482,(V,GTC) (I,ATC)



Context              (SEQ ID NO:745):
TTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAG
K
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
Celera SNP ID:                hCV2730005
SNP Position Transcript:      1400
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|G,28)  african american(T,26|G,8)  total(T,36|G,36)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 404,(R,AGG) (S,AGT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,22|G,8)  total(T,25|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 404,(R,AGG) (S,AGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,662|T,2306) ; no_pop(G,12|T,6) ; no_pop(G,-|T,-) ; no_pop(G,8
32|T,1872)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 404,(R,AGG) (S,AGT)



Context              (SEQ ID NO:746):
CTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGC
Y
GGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATT
Celera SNP ID:                hCV2730006
SNP Position Transcript:      1274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,33)  total(T,4|C,70)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 362,(A,GCC) (A,GCT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:271, 362,(A,GCC) (A,GCT)



Context              (SEQ ID NO:747):
TCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCC
H
AGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAG
Celera SNP ID:                hCV11684418
SNP Position Transcript:      8986
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:271, 2933,(L,CTA) (Q,CAA)



Context              (SEQ ID NO:748):
AAGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATG
R
GAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGAT
Celera SNP ID:                hCV8241865
SNP Position Transcript:      10500
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:749):
GTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGAGAAGGCTTTTGAAGTTAACCCGCAAGGAG
Y
CCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGATAATGGAAAGCCTCAGTTGTCATCTTTGACA
Celera SNP ID:                hCV25634382
SNP Position Transcript:      10530
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:750):
CTCTGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAACCAGGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCC
R
TGACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATTCCAGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGT
Celera SNP ID:                hCV25634478
SNP Position Transcript:      11198
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,32|A,0)  total(G,65|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,30|A,0)  total(G,65|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:751):
CTGAGTTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAGGTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCC
M
TGAGGGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCCAGCGGCAGGTTTGGTCAGTGCCCAGGCAGAGGTTGCAGTGAG
Celera SNP ID:                hCV31861387
SNP Position Transcript:      11442
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:752):
GGTCAGTGCCCAGGCAGAGGTTGCAGTGAGTTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTGTCTCAAAAAACAAAAACTGTTA
Y
AGTTTATAGAGACATCCTACATGTGTTTCAAATTCATCATGGAAGGCTGCAGTACAAGTTTGACTGTGGAAGTGGCCCTGGAATTGTCTCTGTTCAGAGC
Celera SNP ID:                hCV32402558
SNP Position Transcript:      11613
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:753):
GTGAGTTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTGTCTCAAAAAACAAAAACTGTTACAGTTTATAGAGACATCCTACATGT
R
TTTCAAATTCATCATGGAAGGCTGCAGTACAAGTTTGACTGTGGAAGTGGCCCTGGAATTGTCTCTGTTCAGAGCATTCAGGTCAATGATGGGCAGTGGC
Celera SNP ID:                hCV8241858
SNP Position Transcript:      11638
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:754):
GCGTTTGCAATCCGTCACCTGCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGCGTCAATCCGTGTTCCTCCAA
S
CCATGCCTCTATGGGGGCACGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACT
Celera SNP ID:                hCV1116673
SNP Position Transcript:      12181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,36)  african american(G,1|C,35)  total(G,1|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,184) ; no_pop(G,10|C,962) ; no_pop(G,-|C,-) ; no_pop(G,-|
C,-)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:755):
GTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAAGAATGGCGGAACATGCTTTGACAGTTTGGATGGCGC
Y
GTTTGTCAGTGTGATTCGGGTTTTAGGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCTGGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACA
Celera SNP ID:                hCV16195244
SNP Position Transcript:      12337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,32)  total(T,2|C,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2738|T,234) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:756):
AGTACAGGGGACGTCACTGCGAGGATGCTGCGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCGTTGTGTTTGT
Y
GCAGGGATATTTTTACTGGTGGTGGTGTTTGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAAGCACCTGGGAC
Celera SNP ID:                hCV25634451
SNP Position Transcript:      12571
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|C,0)  african american(T,35|C,1)  total(T,71|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,35|C,1)  total(T,73|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:757):
CAGAGCATCCCGAATTCAGCACTTTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGTGGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACC
Y
CCTTCAAACTCCCCTTCTGACAGCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTATGACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGA
Celera SNP ID:                hCV27495242
SNP Position Transcript:      12940
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,631|T,119) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:758):
CAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCTTCCCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGCAGTC
Y
CTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCC
Celera SNP ID:                hCV11684434
SNP Position Transcript:      13105
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,24|C,12)  african american(T,13|C,23)  total(T,37|C,35)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1084|C,2084) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:759):
TGCAGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACA
R
GAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCG
Celera SNP ID:                hCV25922531
SNP Position Transcript:      13198
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,3|A,31)  total(G,3|A,69)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:760):
ACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACC
Y
CTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCGAAAGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAG
Celera SNP ID:                hCV25922596
SNP Position Transcript:      13237
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,414|C,1806) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:761):
GCTACCACCGTTACCGCCCGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTAGAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAAC
Y
GGCAGAGGTTCAACTTGAATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTCTGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGA
Celera SNP ID:                hCV25634430
SNP Position Transcript:      13445
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:762):
TGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGCTGCGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGAGCGGGGA
M
GACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACACGGAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTTTAGTGAAC
Celera SNP ID:                hCV9476824
SNP Position Transcript:      13708
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,10|A,1) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:763):
TTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTCATCGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACATCTGTCTGTGTTAAAATAATCAAAC
R
AAAAATCAGTCCTGTGTTGTCAGCATGATTCATGTATTTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTTTTTTTGTAAATTTTATGTACAGATT
Celera SNP ID:                hCV29419312
SNP Position Transcript:      14025
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:764):
CTCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGT
G
TCAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTT
Celera SNP ID:                hCV11250372
SNP Position Transcript:      14195
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:765):
TCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTG
K
CAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTC
Celera SNP ID:                hCV29748986
SNP Position Transcript:      14196
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:766):
CTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGT
Y
AGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCA
Celera SNP ID:                hCV1116675
SNP Position Transcript:      14197
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|-,-) ; no_pop(C,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:767):
AGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGTGCCATTATCTAGCACCCTGA
T
TTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTGTAGTCATTCATTTCTAGCTGT
Celera SNP ID:                hCV11250373
SNP Position Transcript:      14221
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Context              (SEQ ID NO:768):
TGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGT
R
TAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCTTACATGGGTTGCTGTATTTAGAATTATAAACATTTTTCAT
Celera SNP ID:                hCV27490985
SNP Position Transcript:      14300
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:271, None



Gene Number:                  6
Celera Gene:                  hCG16250 - 83000099381671
Celera Transcript:            hCT7282 - 83000099381702
Public Transcript Accession:
Celera Protein:               hCP34153 - 197000069431138
Public Protein Accession:
Gene Symbol:                  FAT
Protein Name:                  FAT tumor suppressor homolog 1 (Drosophila)
Celera Genomic Axis:          GA_x5YUV32W706(3267142..3414765)
Chromosome:                   4
OMIM NUMBER:                  600976
OMIM Information:


Transcript Sequence  (SEQ ID NO:11):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTGCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCT
GCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACAGTTAAGCAATGGGGAGACAT
TTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCTCTGCAGTTTACACACCTCG
AGTACAACGTCACCGTGCAGGAGAACTCTGCAGCTAAGACTTATGTGGGGCATCCTGTCAAGATGGGTGTTTACATTACACATCCAGCGTGGGAAGTAAG
GTACAAAATTGTTTCCGGAGACAGTGAAAACCTGTTCAAAGCTGAAGAGTACATTCTCGGAGACTTTTGCTTTCTAAGAATAAGGACCAAAGGAGGAAAT
ACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGGCGCGAACAAAGGTCAGGGTGC
AGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATAAGGACCAGTATCGCAAGAGT
CAGCGCCACGGATGCAGACATAGGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATA
GTGTTAACTGGTAGACTTGATTACCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCA
GCAGCATGGCCAAGCTAACGGTGCACATCGAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCC
AGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATCGTGGCAGGTGACCTTCTCCAGCAGTTTAGA
ACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCATCCTTTCGGCTACAATCTCACACTACAGG
CTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGCCGGGCCAGTCAAGTTTGAAAAGGATGT
TTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAGG
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
TAACAACAAGTGACAGAAAAGCGTCCACCAAGGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGC
TTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAAT
TTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAACTGATGCCTCGGGTTTATACTCTGAGGA
TTCGTGCATCAGACTGGGGCTTGCCGTACCGCCGGGAAGTCGAAGTCCTTGCTACAATTACTCTCAATAACTTGAATGACAACACACCTTTGTTTGAGAA
AATAAATTGTGAAGGGACAATTCCCAGAGATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTAT
CAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGG
TGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAA
CTTGCAGTGTGAAGAGACTGGTGTTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTC
GATTCTCACTCTGTCAATGCTCACATACCGCAGTTTAGAAGCACTCTTCCGACTGGTATTCAGGTAAAGGAAAACCAGCCTGTGGGTTCCAGTGTAATTT
TCATGAACTCCACTGACCTTGACACTGGCTTCAATGGAAAACTGGTCTATGCTGTTTCTGGAGGAAATGAGGATAGTTGCTTCATGATTGATATGGAAAC
AGGAATGCTGAAAATTTTATCTCCTCTTGACCGTGAAACAACAGACAAATACACCCTGAATATTACCGTCTATGACCTTGGGATACCCCAGAAGGCTGCG
TGGCGTCTTCTACATGTCGTGGTTGTCGATGCCAATGATAATCCACCCGAGTTTTTACAGGAGAGCTATTTTGTGGAAGTGAGTGAAGACAAGGAGGTAC
ATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATTCTTACAGACACAGACACATTTTCAATTGA
CAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGATTGAGGCCAGGGACCAAGCCAGAGAAGAG
CCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATCGTGTGAAAGTCCGAG
AGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTTCTGGACCACGGAGA
AGGAAACTTCGATGTGGATAAACTCAGTGGAGCAGTTAGGATCGTCCAGCAGTTGGACTTTGAGAAGAAGCAAGTGTATAATCTCACTGTGAGGGCCAAA
GACAAGGGAAAGCCAGTTTCTCTGTCTTCTACTTGCTATGTTGAAGTTGAGGTGGTTGATGTGAATGAGAACCTGCACCCACCCGTGTTTTCCAGCTTTG
TGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCCGGAAGAGATGGGGAGATCCGATA
CTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACTGGACCGTGAATCGACCTCCCAT
TATTGGCTAACAGTCTTTGCAACCGATCAGGGTGTCGTGCCTCTTTCATCGTTCATAGAGATCTACATAGAGGTTGAGGATGTCAATGACAATGCACCAC
AGACATCAGAGCCTGTTTATTACCCAGAAATCATGGAAAATTCTCCTAAAGATGTATCTGTGGTCCAGATCGAGGCATTTGATCCAGATTCGAGCTCTAA
TGACAAGCTCATGTACAAAATTACAAGTGGAAATCCACAAGGATTCTTTTCAATACATCCTAAAACAGGTCTCATCACAACTACGTCAAGGAAGCTAGAC
CGAGAACAGCAAGATGAACACATATTAGAGGTTACTGTGACAGACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATG
AAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCT
CTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCG
AAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACAATGGTCGCCCTCAAAAGTCATCAA
CCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTTACCTTTACTGTGATGGAAAGTGA
CCCCGTTGCTCACATGATTGGAGTAATATCTGTGGAGCCTCCTGGCATACCCCTTTGGTTTGACATCACTGGTGGCAACTACGACAGTCACTTCGATGTG
GACAAGGGAACTGGAACCATCATTGTTGCCAAACCTCTTGATGCAGAACAGAAGTCAAACTACAACCTCACAGTCGAGGCTACAGATGGAACCACCACTA
TCCTCACTCAGGTATTCATCAAAGTAATAGACACAAATGACCATCGTCCTCAGTTTTCTACATCAAAGTATGAAGTTGTTATTCCTGAAGATACAGCGCC
AGAAACAGAAATTTTGCAAATCAGTGCTGTGGATCAGGATGAGAAAAACAAACTAATCTACACTCTGCAGAGCAGTAGAGATCCACTGAGTCTCAAGAAA
TTTCGTCTTGATCCTGCAACCGGCTCTCTCTATACTTCTGAGAAACTGGATCATGAAGCTGTTCACCAGCACACCCTCACGGTCATGGTACGAGATCAAG
ATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACCGCTTCCTCCTACAAAGGGCGGGT
TTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGT
ACTTTTGGAAATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATT
TAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTTAC
ATCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAATA
AAAGATGGAAATACAGGTGATGCTTTTGATATTAATCCACATTCTGGAACTATCATCACTCAGAAAGCCCTGGACTTTGAAACTTTGCCCATTTACACAT
TGATAATACAAGGAACTAACATGGCTGGTTTGTCCACTAATACAACGGTTCTAGTTCACTTGCAGGATGAGAATGACAACGCGCCAGTTTTTATGCAGGC
AGAATATACAGGACTCATTAGTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATAAA
GACTCAAATGCTTTGCTTGTATATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAGTC
TGGACTATGAAGAAACAAGTATTTTTCACTTTACCGTCCAAGTGCATGACATGGGAACCCCACGTTTATTTGCTGAGTATGCAGCGAATGTAACAGTACA
TGTAATTGACATTAATGACTGCCCCCCTGTGTTTGCCAAGCCATTATATGAAGCATCTCTTTTGTTACCAACATACAAAGGAGTAAAAGTCATCACAGTA
AATGCTACAGATGCTGATTCAAGTGCATTCTCACAGTTGATTTACTCCATCACCGAAGGCAACATCGGGGAGAAGTTTTCTATGGACTACAAGACTGGTG
CTCTCACTGTCCAAAACACAACTCAGTTAAGAAGCCGCTACGAGCTAACCGTTAGAGCTTCCGATGGCAGATTTGCCGGCCTTACCTCTGTCAAAATTAA
TGTGAAAGAAAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCACCGAGGCCGAAACATTAGCTGTCATT
ACTGCTATTGGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAACCA
CTGGCACGCCCTTCGATCGTGAGCAGCAGGAGGCGTTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTGAA
GGTCATTGTAGAAGACCAAAATGATAATGCGCCGGTGTTTGTCAACCTTCCCTACTACGCCGTTGTTAAAGTGGACACTGAGGTGGGCCATGTCATTCGC
TATGTCACTGCTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGAAA
TTTCACTGAAAAAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAAGT
TATCGTTCCGATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTGTG
GTCCACGTGCAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAG
TTATCAATGTCATAGCTCCTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATT
TGTGGACATCATAGTAGACGACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGTCT
GTTGTTCAAGTTAGAGCCACCGATTCTGATTCAGAACCAAATAGAGGAATCTCATACCAGATGTTTGGGAATCACAGCAAGAGTCATGATCATTTTCATG
TAGACAGCAGCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGCAGTTGATGGTGGTATGCC
CACGCTGAGCAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATGAAGCCAGAATTAGCGAG
CACGCCCCTCATGGGCATTTCGTGACCTGTGTAAAAGCCTATGATGCAGACAGTTCAGACATAGACAAGTTGCAGTATTCCATTCTGTCTGGCAATGATC
ATAAACATTTTGTCATTGACAGTGCAACAGGGATTATCACCCTCTCAAACCTGCACCGGCACGCCCTGAAGCCATTTTACAGTCTTAACCTGTCAGTGTC
TGATGGAGTTTTTAGAAGTTCCACCCAGGTTCATGTAACTGTAATTGGAGGCAATTTGCACAGTCCTGCTTTCCTTCAGAACGAATATGAAGTGGAACTA
GCTGAAAACGCTCCCCTACATACCCTGGTGATGGAGGTGAAAACTACGGATGGGGATTCTGGTATTTATGGTCACGTTACTTACCATATTGTAAATGACT
TTGCCAAAGACAGATTTTACATAAATGAGAGAGGACAGATATTTACTTTGGAAAAACTTGATCGAGAAACCCCGGCGGAGAAAGTGATCTCAGTCCGTTT
AATGGCTAAGGATGCTGGAGGAAAAGTTGCTTTCTGCACCGTGAATGTCATCCTTACAGATGACAATGACAATGCACCACAATTTCGAGCAACCAAATAC
GAAGTGAATATCGGGTCCAGTGCTGCTAAAGGGACTTCAGTCGTTAAAGTTCTTGCAAGTGATGCCGATGAGGGCTCCAATGCCGACATCACCTATGCCA
TTGAAGCAGACTCTGAAAGTGTAAAAGAGAATTTGGAAATTAACAAACTGTCCGGCGTAATCACTACAAAGGAGAGCCTCATTGGCTTGGAAAATGAATT
CTTCACTTTCTTTGTTAGAGCTGTGGATAATGGGTCTCCATCAAAAGAATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTCCA
AAATTTTCAGAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCTATTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCTTT
ACAGCCTGGTCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTTTGTGATTGACAGACAGAGCGGGAGACTGAAGTTGGAGAAGAGTCTTGATCA
TGAGACAACTAAGTGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAGAT
GCAAATGACAACAGCCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTG
ATGCTGACTCAGGAACCAACGGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGCTG
GATTACAACTTTAAAGGAACTTGACCATGAAAAGAGAGACAATTACCAGATTAAAGTGGTTGCATCAGATCATGGTGAAAAGATCCAGCTATCCTCCACA
GCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCCAAGGTG
GGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTTGC
CGTTGAAACTATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATGGC
ACCTTCTCATCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTATTCCTGAAG
ACGTCCTTCCTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCAGGTGCAGA
AAAATTCAAACTAAATCCAGACACAGGTGAACTGAAAACGTCAACCCCCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAGAT
GGAGGAGGAAGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGATGTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGTGT
TTGAAAACACAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAGATGCCGACGCAGGATTAAATCGGAAGATTTTATACTCACTGATTGACTCTGC
TGATGGGCAGTTCTCCATTAACGAATTATCTGGAATTATTCAGTTAGAAAAACCTTTGGACAGAGAACTCCAGGCAGTATACACCCTCTCTTTGAAAGCT
GTGGATCAAGGCTTGCCAAGGAGGCTGACTGCCACTGGCACTGTGATTGTATCAGTTCTTGACATAAATGACAACCCCCCTGTGTTTGAGTACCGTGAAT
ATGGTGCCACCGTGTCTGAGGACATTCTTGTTGGAACTGAAGTTCTTCAAGTGTATGCAGCAAGTCGGGATATTGAAGCAAATGCAGAAATCACCTACTC
AATAATAAGTGGAAATGAACATGGGAAATTCAGCATAGATTCTAAAACAGGGGCCGTATTTATCATTGAGAATCTGGATTATGAGAGCTCTCATGAGTAT
TACCTAACAGTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTGTGT
TCAGCCAAGACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTATGGCCGATGATGCCGATGGACCTTCCAACAG
CCACATCCACTACTCAATTATAGATGGCAACCAAGGAAGCTCGTTCACAATTGACCCCGTCAGGGGAGAAGTCAAAGTGACCAAACTTCTCGACCGAGAA
ACGATTTCAGGTTACACGCTCACGGTTCAAGCTTCTGATAATGGCAGTCCACCCAGAGTCAACACGACGACCGTGAACATCGATGTGTCCGATGTCAATG
ACAACGCGCCCGTCTTCTCCAGGGGAAACTACAGTGTCATTATCCAGGAAAATAAGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAGGA
TTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGAGAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCATCT
GCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGATAATGGAAAGCCTCAGTTGTCATCTTTGACATACATTGACATTAGGG
TAATTGAGGAGAGCATCTATCCGCCTGCGATTTTGCCCCTGGAGATTTTCATCACCGCTTCTGGAGAAGAATACTCAGGTGGCGTCATTGGGAAGATCCA
TGCCACAGACCAGGACGTGTATGATACTCTAACCTACAGTCTCGACCCTCAGATGGACAACCTGTTCTCTGTTTCCAGCACAGGGGGCAAGCTGATAGCA
CACAAAAAGCTAGACATAGGGCAATACCTTCTCAATGTCAGCGTAACAGATGGGAAGTTCACGACGGTGGCCGACATCACAGTGCATATCAGACAAGTCA
CACAGGAGATGTTGAACCACACCATCGCGATCCGCTTTGCCAACCTCACTCCGGAAGAATTCGTTGGTGACTACTGGCGCAACTTCCAGCGAGCTTTACG
GAACATCCTGGGTGTGAGGAGGAACGACATACAGATTGTTAGTTTGCAGTCCTCTGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAACCA
GGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCCGTGACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATTCC
AGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGTGTCTGTGGATGAAAGTGTGATGTCAACACACAGCACAGCCAGACTGAG
TTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAGGTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCCCTGAG
GGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCCAGCGGCAGGTTTGGTCAGTGCCCAGGAGATTCATCATGGAAGGCTG
CAGTACAAGTTTGACTGTGGAAGTGGCCCTGGAATTGTCTCTGTTCAGAGCATTCAGGTCAATGATGGGCAGTGGCACGCAGTGGCCCTGGAAGTGAATG
GAAACTATGCTCGCTTGGTTCTAGACCAAGTTCATACTGCATCGGGCACAGCCCCAGGGACTCTGAAAACCCTGAACCTGGATAACTATGTGTTTTTTGG
TGGCCACATCCGTCAGCAGGGAACAAGGCATGGAAGAAGTCCTCAAGTTGGTAATGGTTTCAGGGGTTGTATGGACTCCATTTATTTGAATGGGCAGGAG
CTCCCTTTAAACAGCAAACCCAGAAGCTATGCACACATCGAAGAGTCGGTGGATGTATCTCCAGGCTGCTTCCTGACGGCCACGGAAGACTGCGCCAGCA
ACCCTTGCCAGAATGGAGGCGTTTGCAATCCGTCACCTGCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGCGT
CAATCCGTGTTCCTCCAACCCATGCCTCTATGGGGGCACGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGAGG
TGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAAGAATGGCGGAACATGCTTTGACAGTTTGGATGGCGCCGTTTGTCAGTGTGATTCGGGTTTTA
GGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCTGGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACACGCACGGCTCCTATCACTGCAACTG
CAGCCACGAGTACAGGGGACGTCACTGCGAGGATGCTGCGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCGTT
GTGTTTGTTGCAGGGATATTTTTACTGGTGGTGGTGTTTGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAAGC
ACCTGGGACCCGCTACGGCTTTCTTGCAAAGACCGTATTTTGATTCCAAGCTAAATAAGAACATTTACTCAGACATACCACCCCAGGTGCCTGTCCGGCC
TATTTCCTACACCCCGAGTATTCCAAGTGACTCAAGAAACAATCTGGACCGAAATTCCTTCGAAGGATCTGCTATCCCAGAGCATCCCGAATTCAGCACT
TTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGTGGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACCCCCTTCAAACTCCCCTTCTGACA
GCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTATGACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCTTC
CCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGCAGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCA
GATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGCCA
TCGATACGGACTATTACCCTGGAGGCTACGACATCGAAAGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAGCTGATGAGCTACCACCGTTACCGCC
CGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTAGAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAACCGGCAGAGGTTCAACTTG
AATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTCTGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGAACCCCATGCCCCTTACC
CGCCAGGGTATCAAAGACACTTCGAGGCGCCCGCTGTCGAGAGCATGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGCTG
CGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGAGCGGGGACGACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACACG
GAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTTTAGTGAACCTAGAGGTGATGTGAGTAATCCGCGCTGTTCTTTGCAGCAGTGCTTCCAAGCTT
TTTTTGGTGAGCCGAATGGGCATGGCTGCGCTGGATCCTGCGCCTCTGGACGTGCTAGCCATTTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTCAT
CGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACATCTGTCTGTGTTAAAATAATCAAACGAAAAATCAGTCCTGTGTTGTCAGCATGATTCATGTAT
TTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATT
TTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTT
TCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTGTAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCTTA
CATGGGTTGCTGTATTTAGAATTATAAACATTTTTCATTATTGGAAAGTGTAACGGGGACCTTCTGCATACCTGTTTAGAACCAAAACCACCATGACACA
GTTTTTATAGTGTCTGTATATTTGTGATGCAATGGTCTTGTAAAGGTTTTTAATGAAAACTACCATTAGCCAGTCTTTCTTACTGACAATAAATTATTAA
TAAAATACTTGA


Protein Sequence     (SEQ ID NO:272):
MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMGVYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRT
KGGNTAILNREVKDHYTLIVKALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGTNGEFYYSFKDRTDMFAIHPT
SGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSMAKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQFKAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRY
VFKRTPGKAKFSLNYNTGLISILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGTTVMSLSAVDPDEGENGYVTY
SIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRASDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
LVQYQIEAGNELDLFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYINITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVE
DIFFDSHSVNAHIPQFRSTLPTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPLDRETTDKYTLNITVYDLGIP
QKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSEIIQVEATDKDLGPNGHVTYSILTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
AREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSGQVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLT
VRAKDKGKPVSLSSTCYVEVEVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDAGRDGEIRYSIRDGSGVGVFKIGEETGVIETSDRLDRE
STSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTSEPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKILDENDNKPQFLQKFYKIRLPEREKPDRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKF
FIEPKTGVVSSKRFSAAGEYDILSIKAVDNGRPQKSSTTRLHIEWISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVISVEPPGIPLWFDITGGNYDS
HFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILTQVFIKVIDTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVSDTNDHAPWFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYS
IESGTFGNIGNSFMIDPVLGSIKTAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETVSIGSFVGMVTAHSQSSV
VYEIKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGTNMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAA
DADKDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAEYAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVK
VITVNATDADSSAFSQLIYSITEGNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFTQDVYSAVVKENSTEAET
LAVITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFDREQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVG
HVIRYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGGNPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQV
HSPVVHVQANSPEGLKVFYSITDGDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNPPVFAQQSYAVTLSEASV
IGTSVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTGLISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEA
RISEHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPFYSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEY
EVELAENAPLHTLVMEVKTTDGDSGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFCTVNVILTDDNDNAPQFR
ATKYEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSESVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPE
MQLPKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRLKLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSI
QVKDANDNSPVFESSPYEAFIVENLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKRDNYQIKVVASDHGEKIQ
LSSTAIVDVTVTDVNDSPPRFTAEIYKGTVSEDDPQGGVIAILSTTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTIT
ATDGTFSSKAIVEVKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITYTLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLV
RATDGGGRFCQASIVLTLEDVNDNAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGIIQLEKPLDRELQAVYTL
SLKAVDQGLPRRLTATGTVIVSVLDINDNPPVFEYREYGATVSEDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYES
SHEYYLTVEATDGGTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVMADDADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKL
LDRETISGYTLTVQASDNGSPPRVNTTTVNIDVSDVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTIVTGNDEKAFEVNPQGVL
LTSSAIKRKEKDHYLLQVKVADNGKPQLSSLTYIDIRVIEESIYPPAILPLEIFITASGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGG
KLIAHKKLDIGQYLLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYWRNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLF
VEKPGSAQISTKQLLHKINSSVTDIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVCLCKEGRCPPVHHGCEDD
PCPEGSECVSDPWEEKHTCVCPSGRFGQCPGDSSWKAAVQV*



SNP Information


Context              (SEQ ID NO:769):
ATCTAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTT
S
TTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTA
Celera SNP ID:                hCV2332801
SNP Position Transcript:      2030
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,152|C,32) ; no_pop(G,-|C,-) ; no_pop(G,180|C,52)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 614,(L,TTG) (F,TTC)



Context              (SEQ ID NO:770):
TTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCCGCACTTCAGGAGTTCTGTCAACCACTGGCACGCCCTTCGATCGTGAGCAGCAGGAGGC
R
TTTGATGTGGTTGTAGAAGTGACAGAGGAACATAAGCCTTCTGCAGTGGCCCACGTTGTCGTGAAGGTCATTGTAGAAGACCAAAATGATAATGCGCCGG
Celera SNP ID:                hCV25634420
SNP Position Transcript:      6335
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,35|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2049,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2049,(A,GCG) (A,GCA)



Context              (SEQ ID NO:771):
TAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACAACGCCTCTCCGAAGTTTAC
R
TCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCATCAGTGGTGTATGAAATAA
Celera SNP ID:                hCV25472853
SNP Position Transcript:      5201
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,37)  african american(G,1|A,37)  total(G,2|A,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1671,(T,ACA) (T,ACG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,38)  african american(G,1|A,35)  total(G,3|A,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1671,(T,ACA) (T,ACG)



Context              (SEQ ID NO:772):
ACAATGGTAGTCCCCCCAAATCAACCATTGCAAGAGTCATTGTGAAAATCCTTGATGAAAATGACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAAT
Y
AGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATCACGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAG
Celera SNP ID:                hCV11684401
SNP Position Transcript:      3944
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,31)  total(T,1|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1252,(I,ATC) (I,ATT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,20|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1252,(I,ATC) (I,ATT)



Context              (SEQ ID NO:773):
TAGGCGTGGGAGAGCAAATAACCACTGTTTCTGCTATTGATGCAGATGAACTTCAGTTGGTACAGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTT
Y
AGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGCAAAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAG
Celera SNP ID:                hCV25634449
SNP Position Transcript:      2033
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,39|C,1)  african american(T,36|C,0)  total(T,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 615,(F,TTT) (F,TTC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 615,(F,TTT) (F,TTC)



Context              (SEQ ID NO:774):
CTCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCC
Y
AAGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACA
Celera SNP ID:                hCV25474562
SNP Position Transcript:      8994
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,34)  african american(T,6|C,26)  total(T,8|C,60)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:272, 2936,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:775):
TTCCGATCACTGTCATGAATAAAGCCATGCCTGTGTTTGAAAAACCTTTCTACAGTGCAGAGATTGCAGAGAGCATCCAGGTGCACAGCCCTGTGGTCCA
Y
GTGCAGGCTAACAGCCCGGAAGGCCTGAAAGTGTTCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCA
Celera SNP ID:                hCV25634412
SNP Position Transcript:      6806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,14)  total(T,1|C,47)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2206,(H,CAC) (H,CAT)



Context              (SEQ ID NO:776):
CTGTAGACAGAGACAGTGGCAGAAACGGGGAAGTGCATTACTACCTCAAGGAACATCATGAACACTTTCAAATTGGACCCTTGGGTGAAATTTCACTGAA
R
AAGCAATTTGAGCTTGACACCTTAAATAAAGAATATCTTGTTACAGTGGTTGCAAAAGATGGAGGGAACCCGGCCTTTTCAGCGGAAGTTATCGTTCCGA
Celera SNP ID:                hCV25634419
SNP Position Transcript:      6611
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2141,(K,AAA) (K,AAG)



Context              (SEQ ID NO:777):
CACGGTCATGGTACGAGATCAAGATGTGCCTGTAAAACGCAACTTTGCAAGGATTGTGGTCAATGTCAGCGACACGAATGACCACGCCCCGTGGTTCACC
R
CTTCCTCCTACAAAGGGCGGGTTTATGAATCGGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGT
Celera SNP ID:                hCV15975897
SNP Position Transcript:      4878
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1222|A,248) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1564,(A,GCT) (T,ACT)



Context              (SEQ ID NO:778):
GTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATGAGAAGGCTTTTGAAGTTAACCCGCAAGGAG
Y
CCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGATAATGGAAAGCCTCAGTTGTCATCTTTGACA
Celera SNP ID:                hCV25634382
SNP Position Transcript:      10684
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3499,(V,GTC) (A,GCC)



Context              (SEQ ID NO:779):
ATCTGTTGTTCTTGTCTATGTTAAAATCCTTCCACCGGAAATGCAGCTTCCAAAATTTTCAGAACCTTTCTATACCTTTACAGTGTCAGAGGACGTGCCT
R
TTGGAACAGAGATAGATCTCATCCGAGCAGAACATAGTGGGACTGTTCTTTACAGCCTGGTCAAAGGGAATACTCCAGAAAGCAATAGGGATGAGTCCTT
Celera SNP ID:                hCV25471607
SNP Position Transcript:      8349
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,34)  african american(G,2|A,34)  total(G,6|A,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2721,(I,ATT) (V,GTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,4|A,36)  african american(G,3|A,35)  total(G,7|A,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2721,(I,ATT) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2840|G,108) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2721,(I,ATT) (V,GTT)



Context              (SEQ ID NO:780):
CCGGCCTTACCTCTGTCAAAATTAATGTGAAAGAAAGCAAAGAAAGTCACCTAAAGTTTACCCAGGATGTCTACTCTGCGGTAGTGAAAGAGAATTCCAC
Y
GAGGCCGAAACATTAGCTGTCATTACTGCTATTGGGAATCCAATCAATGAGCCTTTGTTTTATCACATCCTCAACCCAGATCGCAGATTTAAAATAAGCC
Celera SNP ID:                hCV25634421
SNP Position Transcript:      6176
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2430|T,502) ; no_pop(C,-|T,-) ; no_pop(C,232|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1996,(T,ACC) (T,ACT)



Context              (SEQ ID NO:781):
AATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACTGTCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAA
Y
GGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTTCACTGGTGCCGTGAGTACGTCAGAAAACCTGGACTACGAAC
Celera SNP ID:                hCV2332802
SNP Position Transcript:      1673
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|C,11)  african american(T,14|C,22)  total(T,41|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 495,(N,AAT) (N,AAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,0)  african american(T,11|C,19)  total(T,15|C,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 495,(N,AAT) (N,AAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2436|T,732) ; no_pop(C,-|T,-) ; no_pop(C,1380|T,684)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 495,(N,AAT) (N,AAC)



Context              (SEQ ID NO:782):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCGTG
Y
GGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGC
Celera SNP ID:                hCV15882945
SNP Position Transcript:      44
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:783):
CTGGGCGGCCGGGCGCGGGGAGAGGGCGCGGGAGCGGCTCG
Y
GCGGCAGGTACCATGCGGACGCGCGAGCCCGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGC
Celera SNP ID:                hCV1552387
SNP Position Transcript:      42
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,92) ; no_pop(C,4|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:784):
ATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACTGCGATCAGGGTGCCAATGGTGACATAGCATCTTTAAGCATC
R
TGGCAGGTGACCTTCTCCAGCAGTTTAGAACAGTGAGGTCCTTTCCAGGGAGTAAGGAGTATAAAGTCAAAGCCATCGGTGGCATTGATTGGGACAGTCA
Celera SNP ID:                hCV25634450
SNP Position Transcript:      1071
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,38|A,0)  total(G,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 295,(V,GTG) (M,ATG)



Context              (SEQ ID NO:785):
ATAAGGACCAAAGGAGGAAATACAGCTATTCTTAATAGAGAAGTGAAGGATCACTACACATTGATAGTGAAAGCACTTGAAAAAAATACTAATGTGGAGG
Y
GCGAACAAAGGTCAGGGTGCAGGTGCTGGATACAAATGACTTGAGACCGTTATTCTCACCCACCTCATACAGCGTTTCTTTACCTGAAAACACAGCTATA
Celera SNP ID:                hCV25922709
SNP Position Transcript:      580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,12|C,18)  total(T,12|C,48)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 131,(A,GCG) (V,GTG)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 131,(A,GCG) (V,GTG)



Context              (SEQ ID NO:786):
TGGTATCAGTTTTCCATACTGGCCAGGTGCACTCAAGATGACCATGAGATGGTGGCTTCTGTAGATGTTAGTATCCAAGTGAAAGATGCAAATGACAACA
R
CCCGGTCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGA
Celera SNP ID:                hCV11684415
SNP Position Transcript:      8614
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,1008|A,16) ; no_pop(G,9|A,1) ; no_pop(G,329|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2809,(S,AGC) (N,AAC)



Context              (SEQ ID NO:787):
TCTACAGCATCACAGACGGAGACCCTTTCAGCCAGTTCACTATTAACTTCAATACTGGAGTTATCAATGTCATAGCTCCTCTGGACTTTGAGGCCCACCC
R
GCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGACGACATCAATGATAACCCTCCTG
Celera SNP ID:                hCV256990
SNP Position Transcript:      6941
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,12|A,4) ; no_pop(G,1356|A,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2251,(P,CCG) (P,CCA)



Context              (SEQ ID NO:788):
GTGAATCAGCCTCAATTAACAGCGTGGTCCTAACAGACAGGAATGTCCCACTGGTGATTCGAGCAGCTGATGCTGATAAAGACTCAAATGCTTTGCTTGT
R
TATCACATTGTTGAACCATCTGTACACACATATTTTGCTATTGATTCTAGCACTGGTGCTATTCATACAGTACTAAGTCTGGACTATGAAGAAACAAGTA
Celera SNP ID:                hCV16118913
SNP Position Transcript:      5621
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,560|A,2432) ; no_pop(G,-|A,-) ; no_pop(G,8|A,232)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1811,(V,GTA) (V,GTG)



Context              (SEQ ID NO:789):
GACAACAAACCTCAGTTTCTGCAAAAGTTCTACAAAATCAGACTCCCTGAGCGGGAAAAGCCAGACCGAGAAAGAAATGCCAGACGGGAGCCGCTCTATC
R
CGTCATAGCCACCGACAAGGATGAGGGCCCCAATGCAGAAATCTCCTACAGCATCGAAGACGGGAATGAGCATGGCAAATTTTTCATCGAACCGAAAACT
Celera SNP ID:                hCV2332738
SNP Position Transcript:      4006
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,106|G,78) ; no_pop(A,16|G,8) ; no_pop(A,-|G,-) ; no_pop(A,642
|G,1422)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1273,(H,CAC) (R,CGC)



Context              (SEQ ID NO:790):
TGTGGAAGTGAGTGAAGACAAGGAGGTACATAGTGAAATCATCCAGGTTGAAGCCACAGATAAAGACCTGGGGCCCAACGGACACGTGACGTACTCAATT
S
TTACAGACACAGACACATTTTCAATTGACAGCGTGACGGGTGTTGTTAACATCGCACGCCCTCTGGATCGAGAGCTGCAGCATGAGCACTCCTTAAAGAT
Celera SNP ID:                hCV11684367
SNP Position Transcript:      2772
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1622|C,1546) ; no_pop(G,-|C,-) ; no_pop(G,768|C,1344) ; no_po
p(G,60|C,180)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 862,(L,CTT) (V,GTT)



Context              (SEQ ID NO:791):
CCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGTACTTTTGGAAATAT
Y
GGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAAAGCTA
Celera SNP ID:                hCV25634401
SNP Position Transcript:      5015
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,38|C,0)  total(T,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 1609,(I,ATT) (I,ATC)



Context              (SEQ ID NO:792):
CAAGCCAGAGAAGAGCCTCAGCTGTTCTCCACTGTCGTTGTGAAAGTATCACTAGAAGATGTTAATGACAACCCACCTACATTTATTCCACCTAATTATC
R
TGTGAAAGTCCGAGAGGATCTTCCAGAAGGAACCGTCATCATGTGGTTAGAAGCCCACGATCCTGATTTAGGTCAGTCTGGTCAGGTGAGATACAGCCTT
Celera SNP ID:                hCV25634433
SNP Position Transcript:      2986
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,33|A,1)  total(G,71|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 933,(R,CGT) (H,CAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 933,(R,CGT) (H,CAT)



Context              (SEQ ID NO:793):
AGTATCAGATTGAAGCTGGAAATGAACTGGATTTGTTTAGTTTAAACCCCAACTCGGGGGTATTGTCATTAAAGCGATCGCTAATGGATGGCTTAGGTGC
R
AAGGTGTCTTTCCACAGTCTGAGAATCACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGG
Celera SNP ID:                hCV25634442
SNP Position Transcript:      2096
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,35)  total(G,1|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 636,(A,GCA) (A,GCG)



Context              (SEQ ID NO:794):
GGAACCAACGGGGAATTTTACTACAGTTTTAAAGATCGAACAGATATGTTTGCTATTCACCCAACCAGTGGTGTGATAGTGTTAACTGGTAGACTTGATT
W
CCTAGAGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTG
Celera SNP ID:                hCV25922383
SNP Position Transcript:      823
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,36)  african american(T,1|A,37)  total(T,1|A,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 212,(Y,TAC) (F,TTC)



Context              (SEQ ID NO:795):
CCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGATTCCCGACA
K
TTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAACAGACTCCT
Celera SNP ID:                hCV25473078
SNP Position Transcript:      181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|G,33)  african american(T,12|G,18)  total(T,17|G,51)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:796):
CATGGCAAATTTTTCATCGAACCGAAAACTGGAGTGGTTTCGTCCAAGAGGTTTTCAGCAGCTGGAGAATATGATATTCTTTCAATTAAGGCAGTTGACA
R
TGGTCGCCCTCAAAAGTCATCAACCACCAGACTCCATATTGAATGGATCTCCAAGCCCAAACCGTCCCTGGAGCCCATTTCATTTGAAGAATCATTTTTT
Celera SNP ID:                hCV8241868
SNP Position Transcript:      4177
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1330,(N,AAT) (S,AGT)



Context              (SEQ ID NO:797):
GGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAGTTTGC
Y
GTTGAAACTATACAGAATGAATGGAAGGTATATGTGAAGAAACCTCTAGACAGGGAAAAAAGGGACAATTACCTTCTTACTATCACGGCAACTGATGGCA
Celera SNP ID:                hCV11684419
SNP Position Transcript:      9101
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2162|T,982) ; no_pop(C,-|T,-) ; no_pop(C,140|T,100)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2971,(A,GCC) (A,GCT)



Context              (SEQ ID NO:798):
TCTTTGAATCTAGTCCATATGAGGCATTCATTGTTGAAAACCTGCCAGGGGGAAGTAGAGTAATTCAGATCAGGGCATCTGATGCTGACTCAGGAACCAA
Y
GGCCAAGTTATGTATAGCCTGGATCAGTCACAAAGTGTGGAAGTCATTGAATCCTTTGCCATTAACATGGAAACAGGCTGGATTACAACTTTAAAGGAAC
Celera SNP ID:                hCV25634393
SNP Position Transcript:      8720
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,33)  african american(T,0|C,34)  total(T,1|C,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2844,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,35)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2844,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2454|T,518) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2844,(N,AAC) (N,AAT)



Context              (SEQ ID NO:799):
CTCTGGACTTTGAGGCCCACCCGGCATATAAGCTGAGCATACGCGCAACTGACTCCTTGACGGGCGCTCATGCTGAAGTATTTGTGGACATCATAGTAGA
S
GACATCAATGATAACCCTCCTGTGTTTGCTCAGCAGTCTTATGCGGTGACCCTGTCTGAGGCATCTGTAATTGGAACGTCTGTTGTTCAAGTTAGAGCCA
Celera SNP ID:                hCV25922456
SNP Position Transcript:      7019
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|C,37)  african american(G,1|C,27)  total(G,2|C,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2277,(D,GAC) (E,GAG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2277,(D,GAC) (E,GAG)



Context              (SEQ ID NO:800):
GGCAGCCGTTGGCTCAGTTGTGTTGCAGGTGACGGCTCTGGACAAGGACAAAGGGAAAAATGCTGAAGTGCTGTACTCGATCGAGTCAGGTACTTTTGGA
R
ATATTGGAAATTCTTTTATGATTGATCCTGTCTTGGGCTCTATTAAAACTGCCAAAGAATTAGATCGAAGTAACCAAGCGGAGTATGATTTAATGGTAAA
Celera SNP ID:                hCV25634402
SNP Position Transcript:      5010
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1608,(N,AAT) (D,GAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1608,(N,AAT) (D,GAT)



Context              (SEQ ID NO:801):
AGACCAAGCTCTATGAGATGGAAATCCTCGCTGCGGACCGTGGCATGAAGTTGTATGGGAGCAGTGGCATCAGCAGCATGGCCAAGCTAACGGTGCACAT
Y
GAACAGGCCAATGAATGTGCTCCGGTGATAACAGCAGTGACATTGTCACCATCAGAACTGGACAGGGACCCAGCATATGCAATTGTGACAGTGGATGACT
Celera SNP ID:                hCV25922451
SNP Position Transcript:      929
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,24)  african american(T,1|C,13)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 247,(I,ATC) (I,ATT)



Context              (SEQ ID NO:802):
CCCACCCGTGTTTTCCAGCTTTGTGGAAAAGGGGACAGTGAAAGAAGATGCACCTGTTGGTTCATTGGTAATGACGGTGTCGGCTCATGATGAGGACGCC
R
GAAGAGATGGGGAGATCCGATACTCCATTAGAGATGGCTCTGGCGTTGGTGTTTTCAAAATAGGTGAAGAGACAGGTGTCATAGAGACGTCAGATCGACT
Celera SNP ID:                hCV31861349
SNP Position Transcript:      3378
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1064,(G,GGA) (R,AGA)



Context              (SEQ ID NO:803):
AAGCCAGTGGGCTTCAGCGTGCTGCAGCTGGTAGTAACAGATGAGGATTCTTCCCATAACGGTCCACCCTTCTTCTTTACTATTGTAACTGGAAATGATG
R
GAAGGCTTTTGAAGTTAACCCGCAAGGAGTCCTCCTGACATCATCTGCCATCAAGAGGAAGGAGAAAGATCATTACTTACTGCAGGTGAAGGTGGCAGAT
Celera SNP ID:                hCV8241865
SNP Position Transcript:      10654
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3489,(E,GAG) (G,GGG)



Context              (SEQ ID NO:804):
CCCTTGATCGTGAGGAGCAAGCTGTTTATCATCTTCTCGTCAGGGCCACAGATGGAGGAGGAAGATTCTGCCAAGCCAGTATTGTGCTCACGCTAGAAGA
Y
GTGAACGATAACGCCCCCGAATTCTCTGCCGATCCTTATGCCATCACCGTGTTTGAAAACACAGAGCCGGGAACGCTGCTGACAAGAGTGCAGGCCACAG
Celera SNP ID:                hCV16268486
SNP Position Transcript:      9548
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 3120,(D,GAT) (D,GAC)



Context              (SEQ ID NO:805):
TGGAAAGCCTCAGTTGTCATCTTTGACATACATTGACATTAGGGTAATTGAGGAGAGCATCTATCCGCCTGCGATTTTGCCCCTGGAGATTTTCATCACC
K
CTTCTGGAGAAGAATACTCAGGTGGCGTCATTGGGAAGATCCATGCCACAGACCAGGACGTGTATGATACTCTAACCTACAGTCTCGACCCTCAGATGGA
Celera SNP ID:                hCV16268488
SNP Position Transcript:      10857
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2010|T,954) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3557,(A,GCT) (S,TCT)



Context              (SEQ ID NO:806):
TATTACCTAACAGTAGAGGCCACTGATGGAGGCACGCCTTCACTGAGCGACGTTGCCACTGTGAACGTTAATGTAACAGATATCAACGATAATACCCCTG
Y
GTTCAGCCAAGACACCTACACGACAGTCATCAGTGAAGATGCCGTTCTTGAGCAGTCTGTCATCACGGTTATGGCCGATGATGCCGATGGACCTTCCAAC
Celera SNP ID:                hCV25634385
SNP Position Transcript:      10198
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,2)  african american(T,15|C,1)  total(T,47|C,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3337,(V,GTG) (A,GCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,3)  african american(T,28|C,4)  total(T,63|C,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3337,(V,GTG) (A,GCG)



Context              (SEQ ID NO:807):
ACTGATGGCACCTTCTCATCAAAAGCGATAGTTGAAGTGAAAGTTCTGGATGCAAATGACAACAGTCCAGTTTGTGAAAAGACTTTATATTCAGACACTA
Y
TCCTGAAGACGTCCTTCCTGGAAAATTGATCATGCAGATCTCTGCTACAGACGCAGACATCCGCTCTAACGCTGAAATTACTTACACGTTATTGGGTTCA
Celera SNP ID:                hCV25922559
SNP Position Transcript:      9292
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,1)  african american(T,34|C,0)  total(T,71|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3035,(I,ATT) (T,ACT)



Context              (SEQ ID NO:808):
AACCAAGCGGAGTATGATTTAATGGTAAAAGCTACAGATAAGGGCAGTCCACCAATGAGTGAAATAACTTCTGTGCGTATCTTTGTCACAATTGCTGACA
R
CGCCTCTCCGAAGTTTACATCAAAAGAATATTCTGTTGAACTTAGTGAAACTGTCAGCATTGGGAGTTTCGTTGGGATGGTTACAGCCCATAGTCAATCA
Celera SNP ID:                hCV25634394
SNP Position Transcript:      5182
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,4|A,28)  total(G,7|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 1665,(N,AAC) (S,AGC)



Context              (SEQ ID NO:809):
CACAGCTACAGATGGAGAAAATTTTGCCACACCATTATATATCAACATAACAGTGGCTGCCAGTCACAAGCTGGTAAACTTGCAGTGTGAAGAGACTGGT
R
TTGCCAAAATGCTGGCAGAGAAGCTCCTGCAGGCAAATAAATTACACAACCAGGGAGAGGTGGAGGATATTTTCTTCGATTCTCACTCTGTCAATGCTCA
Celera SNP ID:                hCV25634441
SNP Position Transcript:      2223
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,23|A,1)  total(G,55|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 679,(V,GTT) (I,ATT)



Context              (SEQ ID NO:810):
CGGCGAGGGCCCCGGCAGGCCCGGTCCCTGCTCGGGGGCGCGCTGAGACGGCGGGTGAGCTCCACGAGAGCGCCGTCGCCACTTCGGGCCAACTTTGCGA
Y
TCCCGACAGTTAAGCAATGGGGAGACATTTGGCTTTGCTCCTGCTTCTGCTCCTTCTCTTCCAACATTTTGGAGACAGTGATGGCAGCCAACGACTTGAA
Celera SNP ID:                hCV25634432
SNP Position Transcript:      172
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,31|C,1)  total(T,69|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:811):
GTCATGATCATTTTCATGTAGACAGCAGCACTGGCCTCATCTCACTACTCAGAACCCTGGATTACGAGCAGTCCCGGCAGCACACGATTTTTGTGAGGGC
W
GTTGATGGTGGTATGCCCACGCTGAGCAGTGATGTGATTGTCACGGTGGACGTTACCGACCTCAATGATAATCCACCACTCTTTGAACAACAGATTTATG
Celera SNP ID:                hCV27484446
SNP Position Transcript:      7283
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,280|A,1202) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 2365,(A,GCA) (A,GCT)



Context              (SEQ ID NO:812):
CTGAGTTTTGTGACTCCCCGCCACCACAGGGCAGCGGTGTGTCTCTGCAAAGAGGGAAGGTGCCCACCTGTCCACCATGGCTGTGAAGATGATCCGTGCC
M
TGAGGGATCCGAATGTGTGTCTGATCCCTGGGAGGAGAAACACACCTGTGTCTGTCCCAGCGGCAGGTTTGGTCAGTGCCCAGGAGATTCATCATGGAAG
Celera SNP ID:                hCV31861387
SNP Position Transcript:      11596
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3803,(P,CCT) (H,CAT)



Context              (SEQ ID NO:813):
CTCTGAACCTCACCCACATCTGGACGTCTTACTTTTTGTAGAGAAACCAGGTAGTGCTCAGATCTCAACAAAACAACTTCTGCACAAGATTAACTCTTCC
R
TGACTGACATTGAGGAAATCATTGGAGTTAGGATACTGAATGTATTCCAGAAACTCTGCGCGGGACTGGACTGCCCCTGGAAGTTCTGCGATGAAAAGGT
Celera SNP ID:                hCV25634478
SNP Position Transcript:      11352
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,32|A,0)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3722,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,30|A,0)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 3722,(V,GTG) (M,ATG)



Context              (SEQ ID NO:814):
GGTCTTGGTGAAAGTCTTAGGTGCAAATAGCAATCCCCCTGAATTTACCCAGACAGCGTACAAAGCTGCTTTTGATGAGAACGTGCCCATTGGTACTACT
R
TCATGAGCCTGAGTGCCGTAGACCCTGATGAGGGTGAGAATGGGTACGTGACATACAGTATCGCAAATTTAAATCATGTGCCGTTTGCGATTGACCATTT
Celera SNP ID:                hCV2730004
SNP Position Transcript:      1632
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,8) ; no_pop(A,-|G,-) ; no_pop(A,236|G,3
96)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 482,(V,GTC) (I,ATC)



Context              (SEQ ID NO:815):
TTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATTCCCATTTGAGGTATGTTTTTAAAAG
K
ACACCTGGAAAAGCTAAATTCAGTTTAAATTACAACACTGGTCTCATTTCTATTTTAGAACCAGTTAAAAGACAGCAGGCAGCCCATTTTGAACTTGAAG
Celera SNP ID:                hCV2730005
SNP Position Transcript:      1400
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|G,28)  african american(T,26|G,8)  total(T,36|G,36)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 404,(R,AGG) (S,AGT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,22|G,8)  total(T,25|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 404,(R,AGG) (S,AGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,662|T,2306) ; no_pop(G,12|T,6) ; no_pop(G,-|T,-) ; no_pop(G,8
32|T,1872)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 404,(R,AGG) (S,AGT)



Context              (SEQ ID NO:816):
CTTTCGGCTACAATCTCACACTACAGGCTAAAGATAAAGGAACTCCGCCCCAGTTCTCTTCTGTTAAAGTCATTCACGTGACTTCTCCACAGTTCAAAGC
Y
GGGCCAGTCAAGTTTGAAAAGGATGTTTACAGAGCAGAAATAAGTGAATTTGCTCCTCCCAACACACCTGTGGTCATGGTAAAGGCCATTCCTGCTTATT
Celera SNP ID:                hCV2730006
SNP Position Transcript:      1274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,33)  total(T,4|C,70)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 362,(A,GCC) (A,GCT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:272, 362,(A,GCC) (A,GCT)



Context              (SEQ ID NO:817):
TCCACAGCCATTGTGGATGTTACCGTCACCGATGTCAACGATAGTCCACCACGATTCACGGCCGAGATCTATAAAGGGACTGTGAGTGAGGATGACCCCC
H
AGGTGGGGTGATTGCCATCTTAAGTACCACGGATGCTGATTCTGAAGAGATCAACAGACAAGTTACATATTTCATAACAGGAGGGGATCCTTTAGGACAG
Celera SNP ID:                hCV11684418
SNP Position Transcript:      8995
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:272, 2936,(L,CTA) (Q,CAA)



Context              (SEQ ID NO:818):
GCGTTTGCAATCCGTCACCTGCTGGAGGTTATTACTGCAAATGCAGTGCCTTGTACATAGGGACCCACTGTGAGATAAGCGTCAATCCGTGTTCCTCCAA
S
CCATGCCTCTATGGGGGCACGTGTGTTGTCGACAACGGAGGCTTTGTTTGCCAGTGTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACT
Celera SNP ID:                hCV1116673
SNP Position Transcript:      12219
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,36)  african american(G,1|C,35)  total(G,1|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,184) ; no_pop(G,10|C,962) ; no_pop(G,-|C,-) ; no_pop(G,-|
C,-)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:819):
GTAGAGGATTATATACTGGTCAGAGGTGTCAGCTTAGTCCATACTGCAAAGATGAACCCTGTAAGAATGGCGGAACATGCTTTGACAGTTTGGATGGCGC
Y
GTTTGTCAGTGTGATTCGGGTTTTAGGGGAGAAAGGTGTCAGAGTGATATCGACGAGTGCTCTGGAAACCCTTGCCTGCACGGGGCCCTCTGTGAGAACA
Celera SNP ID:                hCV16195244
SNP Position Transcript:      12375
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,32)  total(T,2|C,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2738|T,234) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:820):
AGTACAGGGGACGTCACTGCGAGGATGCTGCGCCCAACCAGTATGTGTCCACGCCGTGGAACATTGGGTTGGCGGAAGGAATTGGAATCGTTGTGTTTGT
Y
GCAGGGATATTTTTACTGGTGGTGGTGTTTGTTCTCTGCCGTAAGATGATTAGTCGGAAAAAGAAGCATCAGGCTGAACCTAAAGACAAGCACCTGGGAC
Celera SNP ID:                hCV25634451
SNP Position Transcript:      12609
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|C,0)  african american(T,35|C,1)  total(T,71|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,35|C,1)  total(T,73|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:821):
CAGAGCATCCCGAATTCAGCACTTTTAACCCCGAGTCTGTGCACGGGCACCGAAAAGCAGTGGCGGTCTGCAGCGTGGCGCCAAACCTGCCTCCCCCACC
Y
CCTTCAAACTCCCCTTCTGACAGCGACTCCATCCAGAAGCCTAGCTGGGACTTTGACTATGACACAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGA
Celera SNP ID:                hCV27495242
SNP Position Transcript:      12978
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,631|T,119) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:822):
CAAAAGTGGTGGATCTTGATCCCTGTCTTTCCAAGAAGCCTCTAGAGGAAAAGCCTTCCCAGCCATACAGTGCCCGGGAAAGCCTGTCTGAAGTGCAGTC
Y
CTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCC
Celera SNP ID:                hCV11684434
SNP Position Transcript:      13143
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,24|C,12)  african american(T,13|C,23)  total(T,37|C,35)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1084|C,2084) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:823):
TGCAGTCTCTGAGCTCCTTCCAGTCCGAATCGTGCGATGACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACA
R
GAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACCCCTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCG
Celera SNP ID:                hCV25922531
SNP Position Transcript:      13236
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,3|A,31)  total(G,3|A,69)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:824):
ACAATGGGTATCACTGGGATACATCAGATTGGATGCCAAGCGTTCCTCTGCCGGACATACAAGAGTTCCCCAACTATGAGGTGATTGATGAGCAGACACC
Y
CTGTACTCAGCAGATCCAAACGCCATCGATACGGACTATTACCCTGGAGGCTACGACATCGAAAGTGATTTTCCTCCACCCCCAGAAGACTTCCCCGCAG
Celera SNP ID:                hCV25922596
SNP Position Transcript:      13275
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,414|C,1806) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:825):
GCTACCACCGTTACCGCCCGAATTCAGCAATCAGTTTGAATCCATCCACCCTCCTAGAGACATGCCTGCCGCGGGTAGCTTGGGTTCTTCATCAAGAAAC
Y
GGCAGAGGTTCAACTTGAATCAGTATTTGCCCAATTTTTATCCCCTCGATATGTCTGAACCTCAAACAAAAGGCACTGGTGAGAATAGTACTTGTAGAGA
Celera SNP ID:                hCV25634430
SNP Position Transcript:      13483
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:826):
TGCCCATGTCTGTGTACGCCTCCACCGCCTCCTGCTCTGACGTGTCAGCCTGCTGCGAAGTGGAGTCCGAGGTCATGATGAGTGACTATGAGAGCGGGGA
M
GACGGCCACTTCGAAGAGGTGACGATCCCGCCCCTGGATTCCCAGCAGCACACGGAAGTCTGACTCTCAACTCCCCCCAAAGTGCCTGACTTTAGTGAAC
Celera SNP ID:                hCV9476824
SNP Position Transcript:      13746
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,10|A,1) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:827):
TTCCAGTGTCCCAACTACTGTCATCGTGAGGTTTTCATCGGCTGTGCCATTTCCCAACGTCTTTTGGGATTTACATCTGTCTGTGTTAAAATAATCAAAC
R
AAAAATCAGTCCTGTGTTGTCAGCATGATTCATGTATTTATATAGATTTGATTATTTTAATTTTCCTGTCTCTTTTTTTTGTAAATTTTATGTACAGATT
Celera SNP ID:                hCV29419312
SNP Position Transcript:      14063
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:828):
CTCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGT
G
TCAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTT
Celera SNP ID:                hCV11250372
SNP Position Transcript:      14233
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:829):
TCTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTG
K
CAGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTC
Celera SNP ID:                hCV29748986
SNP Position Transcript:      14234
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:830):
CTTTTTTTTGTAAATTTTATGTACAGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGT
Y
AGTGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCA
Celera SNP ID:                hCV1116675
SNP Position Transcript:      14235
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|-,-) ; no_pop(C,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:831):
AGATTTGATTTTTCATAGTTTTAACTAGATTTCCAAGATATTTTGTGCATTTGTTTCAACTGAATTTTGGTGGTGTCAGTGCCATTATCTAGCACCCTGA
T
TTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGTGTAGTCATTCATTTCTAGCTGT
Celera SNP ID:                hCV11250373
SNP Position Transcript:      14259
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Context              (SEQ ID NO:832):
TGCCATTATCTAGCACCCTGATTTTTTTTTTTTTACTATAACCAGGGTTTCATTCTGTCTTTTTCCACTGAAGTGTGACATTTTGTTAGTACATTTCAGT
R
TAGTCATTCATTTCTAGCTGTACATAGGATGAAGGAGAGATCAGATACATGAACATGTCTTACATGGGTTGCTGTATTTAGAATTATAAACATTTTTCAT
Celera SNP ID:                hCV27490985
SNP Position Transcript:      14338
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:272, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1640294 - 145000146843631
Public Transcript Accession:  NM_022551
Celera Protein:               hCP1614095 - 197000069367639
Public Protein Accession:     NP_072045
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:12):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCATTAAG
GGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACGTGTGA
TCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCCAGGTCCTAGCCAA
TGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGCCTTCGTGTCCGAGGCCAG
CACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCCTTGTCTGTTAATAAATAGTTTATATAC


Protein Sequence     (SEQ ID NO:273):
MSLVIPEKFQHILRVLNTNIDGRRKIAFAITAIKGVGRRYAHVVLRKADIDLTKRAGELTEDEVERVITIMQNPRQYKIPDWFLNRQKDVKDGKYSQVLA
NGLDNKLREDLERLKKIRAHRGLRHFWGLRVRGQHTKTTGRRGRTVGVSKKK*



SNP Information


Context              (SEQ ID NO:833):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGA
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:273, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:273, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:273, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1963723 - 145000146843641
Public Transcript Accession:  NM_022551
Celera Protein:               hCP1776818 - 197000069367640
Public Protein Accession:     NP_072045
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:13):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCATTAAG
GGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACGTGTGA
TCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCCAGGTCCTAGCCAA
TGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGGTGAGTGGGGGGTCTCATC
TCCCTGCCTACCTCGACTCAGCATTCCTCCTACTCGCTCTTCTTTTTCCCCAACCTTTTGTTTCTGCTGTGCATGACCTGTGACTCTTCTCTTTTTACCT
GCAGCCTTCGTGTCCGAGGCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCCTTGTCTGTT
AATAAATAGTTTATATACC


Protein Sequence     (SEQ ID NO:274):
MSLVIPEKFQHILRVLNTNIDGRRKIAFAITAIKGVGRRYAHVVLRKADIDLTKRAGELTEDEVERVITIMQNPRQYKIPDWFLNRQKDVKDGKYSQVLA
NGLDNKLREDLERLKKIRAHRGLRHFWG*



SNP Information


Context              (SEQ ID NO:834):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGA
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:274, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:274, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:274, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1963724 - 145000146843675
Public Transcript Accession:
Celera Protein:               hCP1776824 - 197000069367644
Public Protein Accession:
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:14):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GTTTACTGTGTCTGATTTCTTCCCCCGTACTTTTTCAACTAGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCG
ATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCATTAAGGGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAA
GAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACGTGTGATCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAG
AAGGATGTAAAGGATGGAAAATACAGCCAGGTCCTAGCCAATGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATA
GAGGGCTGCGTCACTTCTGGGGCCTTCGTGTCCGAGGCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGT
CTGTAGGCCTTGTCTGTTAATAAATAGTTTATATAC


Protein Sequence     (SEQ ID NO:275):
MQNPRQYKIPDWFLNRQKDVKDGKYSQVLANGLDNKLREDLERLKKIRAHRGLRHFWGLRVRGQHTKTTGRRGRTVGVSKKK*


SNP Information


Context              (SEQ ID NO:835):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGTTTACTGTGTCTGATTTCTTCCCCCGTACTTTTTCAACTAGTCTCTAGTGATCCCTGAAAAGTTCCAGCA
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:275, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:275, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:275, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1963725 - 145000146843667
Public Transcript Accession:  NM_022551
Celera Protein:               hCP1776857 - 197000069367643
Public Protein Accession:     NP_072045
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:15):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCATTAAG
GGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACGTGTGA
TCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCCAGGTGTGTACTGA
AATGAGGGCAGGATTAGAGGAAGGGTGGAGGGTCCTAACAGAATTGGGCATAGGAGGTCAGGGGATAAAACATCCCTTGCCCCCTCCTCTGAATCCAGGT
CCTAGCCAATGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGGTGAGTGGGG
GGTCTCATCTCCCTGCCTACCTCGACTCAGCATTCCTCCTACTCGCTCTTCTTTTTCCCCAACCTTTTGTTTCTGCTGTGCATGACCTGTGACTCTTCTC
TTTTTACCTGCAGCCTTCGTGTCCGAGGCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCC
TTGTCTGTTAATAAATAGTTTATATACCTATGGCT


Protein Sequence     (SEQ ID NO:276):
MSLVIPEKFQHILRVLNTNIDGRRKIAFAITAIKGVGRRYAHVVLRKADIDLTKRAGELTEDEVERVITIMQNPRQYKIPDWFLNRQKDVKDGKYSQVCT
EMRAGLEEGWRVLTELGIGGQGIKHPLPPPLNPGPSQWSGQQAP*



SNP Information


Context              (SEQ ID NO:836):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGA
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:276, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:276, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:276, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1963726 - 145000146843650
Public Transcript Accession:
Celera Protein:               hCP1776870 - 197000069367641
Public Protein Accession:
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:16):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCG
ACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCACTGCTCGGGCGCAC
GAAAGCTGTCTAAGGCTTGGGCGTATATGGGGAACTCTGGCTTTTGCCACGCACTTTTGGGAATGGGCAGGAGACCTGCTTCCTCTCTCCAGAGGTTGCA
TTTTCCCAAGCTTGAACGCTTCATGTGCCTACTCTGCAGGACTGAGGAGTTTGCTCTGTGGTGTGAAAACCTAAGGAATGGGGGGCGGGTGTCTTGCCAC
TTGTGTGACAGGCTTAACCTTTTTGTATGAAGTTCGTTTGCCTTATCGGCCTTACTGTTTGATAGTTTACTGTGTCTGATTTCTTCCCCCGTACTTTTTC
AACTAGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCA
TTAAGGGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACG
TGTGATCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCCAGGTCCTA
GCCAATGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGCCTTCGTGTCCGAG
GCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCCTTGTCTGTTAATAAATAGTTTATATAC


Protein Sequence     (SEQ ID NO:277):
MQNPRQYKIPDWFLNRQKDVKDGKYSQVLANGLDNKLREDLERLKKIRAHRGLRHFWGLRVRGQHTKTTGRRGRTVGVSKKK*


SNP Information


Context              (SEQ ID NO:837):
GCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAG
R
CTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCGACTTTCT
Celera SNP ID:                hCV2215037
SNP Position Transcript:      107
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,37|G,3)  african american(A,28|G,4)  total(A,65|G,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,170|G,14) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None



Context              (SEQ ID NO:838):
TTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTG
Y
CCTGAGGGCCTGCGACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCA
Celera SNP ID:                hCV25635699
SNP Position Transcript:      186
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,1)  african american(C,30|T,2)  total(C,67|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,1)  african american(C,31|T,5)  total(C,68|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None



Context              (SEQ ID NO:839):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTT
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None



Context              (SEQ ID NO:840):
TTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCACTGCTCGGGCGCACGAAAGCTGTCTAAGGCT
K
GGGCGTATATGGGGAACTCTGGCTTTTGCCACGCACTTTTGGGAATGGGCAGGAGACCTGCTTCCTCTCTCCAGAGGTTGCATTTTCCCAAGCTTGAACG
Celera SNP ID:                hCV29315579
SNP Position Transcript:      318
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None



Context              (SEQ ID NO:841):
CCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGG
Y
TGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCGACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCC
Celera SNP ID:                hCV25635698
SNP Position Transcript:      161
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,34|T,0)  total(C,73|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:277, None



Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT1963727 - 145000146843659
Public Transcript Accession:
Celera Protein:               hCP1776816 - 197000069367642
Public Protein Accession:
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:17):
GCTGGGATTACAGGCGTGAGCCACTGCGACCGGCCCAAAGTTAACCTTCTGTCGAACGGTTTATATCTGGAAAGGTGGGTGAGGAAAGGGTGACCTAGGG
GATTGCAAAATAGATTATTGCAGATCCTACCTTTGTGAGCTTTTTGAATGAGGCTATAAAGGAATTTAAAAATCAGATTCAACACTAATTCCGAAACCCC
TCACTTCATTCAGGGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAG
GTGGAACGTGTGATCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCC
AGGTCCTAGCCAATGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGCCTTCG
TGTCCGAGGCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCCTTGTCTGTTAATAAATAGT
TTATATAC


Protein Sequence     (SEQ ID NO:278):
MQNPRQYKIPDWFLNRQKDVKDGKYSQVLANGLDNKLREDLERLKKIRAHRGLRHFWGLRVRGQHTKTTGRRGRTVGVSKKK*


SNP Information


Gene Number:                  7
Celera Gene:                  hCG1640167 - 145000146843630
Celera Transcript:            hCT2284174 - 145000146843685
Public Transcript Accession:
Celera Protein:               hCP1854511 - 197000069367645
Public Protein Accession:
Gene Symbol:                  RPS18
Protein Name:                  ribosomal protein S18
Celera Genomic Axis:          GA_x5YUV32W6W6(6252474..6295022)
Chromosome:                   6
OMIM NUMBER:                  180473
OMIM Information:


Transcript Sequence  (SEQ ID NO:18):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCAT
GGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCG
ACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCACTGCTCGGGCGCAC
GAAAGCTGTCTAAGGCTTGGGCGTATATGGGGAACTCTGGCTTTTGCCACGCACTTTTGGGAATGGGCAGGAGACCTGCTTCCTCTCTCCAGAGGTTGCA
TTTTCCCAAGCTTGAACGCTTCATGTGCCTACTCTGCAGGACTGAGGAGTTTGCTCTGTGGTGTGAAAACCTAAGGAATGGGGGGCGGGTGTCTTGCCAC
TTGTGTGACAGGCTTAACCTTTTTGTATGAAGTTCGTTTGCCTTATCGGCCTTACTGTTTGATAGTTTACTGTGTCTGATTTCTTCCCCCGTACTTTTTC
AACTAGTCTCTAGTGATCCCTGAAAAGTTCCAGCATATTTTGCGAGTACTCAACACCAACATCGATGGGCGGCGGAAAATAGCCTTTGCCATCACTGCCA
TTAAGGGTGTGGGCCGAAGATATGCTCATGTGGTGTTGAGGAAAGCAGACATTGACCTCACCAAGAGGGCGGGAGAACTCACTGAGGATGAGGTGGAACG
TGTGATCACCATTATGCAGAATCCACGCCAGTACAAGATCCCAGACTGGTTCTTGAACAGACAGAAGGATGTAAAGGATGGAAAATACAGCCAGGTCCTA
GCCAATGGTCTGGACAACAAGCTCCGTGAAGACCTGGAGCGACTGAAGAAGATTCGGGCCCATAGAGGGCTGCGTCACTTCTGGGGCCTTCGTGTCCGAG
GCCAGCACACCAAGACCACTGGCCGCCGTGGCCGCACCGTGGGTGTGTCCAAGAAGAAATAAGTCTGTAGGCCTTGTCTGTTAATAAATAGTTTATATAC
CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACA
GGTGTGCACCACCATGCCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAC


Protein Sequence     (SEQ ID NO:279):
MQNPRQYKIPDWFLNRQKDVKDGKYSQVLANGLDNKLREDLERLKKIRAHRGLRHFWGLRVRGQHTKTTGRRGRTVGVSKKK*


SNP Information


Context              (SEQ ID NO:842):
GCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAG
R
CTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCGACTTTCT
Celera SNP ID:                hCV2215037
SNP Position Transcript:      107
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,37|G,3)  african american(A,28|G,4)  total(A,65|G,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,170|G,14) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None



Context              (SEQ ID NO:843):
TTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTTCTGGAAACGTCCTG
Y
CCTGAGGGCCTGCGACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCA
Celera SNP ID:                hCV25635699
SNP Position Transcript:      186
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,1)  african american(C,30|T,2)  total(C,67|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,1)  african american(C,31|T,5)  total(C,68|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None



Context              (SEQ ID NO:844):
CGCACCGCCTCTTCCTCCTGGAAGCTATATAATGATATCGCGTCACTTCCGCTCTCTCTTCCACAGGAGG
Y
CTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGGCTGTCAGGGTT
Celera SNP ID:                hCV25635691
SNP Position Transcript:      71
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,1)  african american(C,11|T,3)  total(C,40|T,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|T,4)  african american(C,33|T,3)  total(C,65|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,35|T,3)  total(C,70|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None



Context              (SEQ ID NO:845):
TTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCCGGAGAGCGGGCCCGAGGAAGGGTCACTGCTCGGGCGCACGAAAGCTGTCTAAGGCT
K
GGGCGTATATGGGGAACTCTGGCTTTTGCCACGCACTTTTGGGAATGGGCAGGAGACCTGCTTCCTCTCTCCAGAGGTTGCATTTTCCCAAGCTTGAACG
Celera SNP ID:                hCV29315579
SNP Position Transcript:      318
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None



Context              (SEQ ID NO:846):
CCACAGGAGGCCTACACGCCGCCGCTTGTGCTGCAGCCATGGTAAGACTGGAATCCGTGCCGTGATCCAGCGGCATCGCAGCTCGGGCAAGGAAAGCCGG
Y
TGTCAGGGTTCTGGAAACGTCCTGCCCTGAGGGCCTGCGACTTTCTGTATGGAGCCTTGGATCGCGTCCCTGGAAAGGGACACCAAAGATTTCCAATTCC
Celera SNP ID:                hCV25635698
SNP Position Transcript:      161
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,34|T,0)  total(C,73|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:279, None



Gene Number:                  8
Celera Gene:                  hCG1643071 - 146000219589911
Celera Transcript:            hCT1643198 - 146000219589912
Public Transcript Accession:
Celera Protein:               hCP1625777 - 197000069374002
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(14824230..14858736)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:19):
GTTCATCTGACACCAGCTGCCTCCAGCACACCACTGAAGTTCAACCCCAACAAGATCAAAGTCGTATACCTGAGGTGTACCTTGGATAAAGTTGATGCCA
TGTCTGTGCTGGCCCCCAAGATTGGCCCTCTGGGTATGTCTGCAAAAAAGGTTGGTGATGACACTGCCAAGGCAACCGGTGACTGGAAGGGTCTAAGGAT
TATAGTGAAACTGACCATTCAGAACAGACCCAGAGTGAGGTGGTACCATCTGCCACTGCCAGAAGGGTTTCTGCAAAGCCCTCAAGGAACCACAAAGAGA
TGGAAAGAAACAGAAAAACATTAAACACAATGGAAATATCACTTTTGATGAGATTGTCAACATTGCTTCACAGATGTGGCACTGATCTTTAGCCAGAGAA
CTCTCTGAAACCACTAAAGAGATCCTGGGAACTGCCCAGTCTGTGAGCTGCAATGCTGATGGCTGCCAC


Protein Sequence     (SEQ ID NO:280):
MSVLAPKIGPLGMSAKKVGDDTAKATGDWKGLRIIVKLTIQNRPRVRWYHLPLPEGFLQSPQGTTKRWKETEKH*


SNP Information


Gene Number:                  8
Celera Gene:                  hCG1643071 - 146000219589911
Celera Transcript:            hCT2268163 - 146000219589917
Public Transcript Accession:
Celera Protein:               hCP1860869 - 197000069374003
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(14824230..14858736)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:20):
ATCCAGGGAATAGTGACAGCTGCAACACAGTGTGATGGGCTACTGTGCTCTGGGACTCTCACCCAGAGCAGGCAAAGGCACAAGCCCTTTACTACTGGAG
AGGTGGCATCAGGCCACGATTTCTGCTGGAAAACAGACGAGCTCATTCAAGGGCGCCTGGAACAAGAGTGCTGGAGTCTGGAGCCCAAGGCTTGTGGGAG
GTCGGGTCGCCAAGGTTTTGGAGTTGTCCTTGCAACCCAAATTCTCTCCAGTATGCACAAAGGAAACATGATTAACCAGCCTCCCTACCAGAGGGTGATC
TCAGATGGGTCCCAGAAGCAGGTTCTAATTTACTTAAGTGATGAGTCTCTCCAGTTACTCAATCCTACAATACCGGCCAGTAGATATAATTGCAAAGCAG
GAAGGGGAATAGTCGACATCTGGAGCAAGGCAGATGCAGCCAGAACTGCCTCCAGCACACCACTGAAGTTCAACCCCAACAAGATCAAAGTCGTATACCT
GAGGTGTACCTTGGATAAAGTTGATGCCATGTCTGTGCTGGCCCCCAAGATTGGCCCTCTGGGTATGTCTGCAAAAAAGAAGGGTTTCTGCAAAGCCCTC
AAGGAACCACAAAGAGATGGAAAGAAACAGAAAAACATTAAACACAATGGAAATATCACTTTTGATGAGATTGTCAACATTGCTTCACAGATGTGGCAC


Protein Sequence     (SEQ ID NO:281):
MHKGNMINQPPYQRVISDGSQKQVLIYLSDESLQLLNPTIPASRYNCKAGRGIVDIWSKADAARTASSTPLKFNPNKIKVVYLRCTLDKVDAMSVLAPKI
GPLGMSAKKKGFCKALKEPQRDGKKQKNIKHNGNITFDEIVNIASQMWH



SNP Information


Context              (SEQ ID NO:847):
ATCCAGGGAATAGTGACAG
Y
TGCAACACAGTGTGATGGGCTACTGTGCTCTGGGACTCTCACCCAGAGCAGGCAAAGGCACAAGCCCTTTACTACTGGAGAGGTGGCATCAGGCCACGAT
Celera SNP ID:                hCV8745698
SNP Position Transcript:      20
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:281, None



Context              (SEQ ID NO:848):
ATCCAGGGAATAGTGACAGCTGCAACACAGT
K
TGATGGGCTACTGTGCTCTGGGACTCTCACCCAGAGCAGGCAAAGGCACAAGCCCTTTACTACTGGAGAGGTGGCATCAGGCCACGATTTCTGCTGGAAA
Celera SNP ID:                hCV3054607
SNP Position Transcript:      32
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,8|T,5) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:281, None



Context              (SEQ ID NO:849):
ATCCAGGGAATAGTGACA
S
CTGCAACACAGTGTGATGGGCTACTGTGCTCTGGGACTCTCACCCAGAGCAGGCAAAGGCACAAGCCCTTTACTACTGGAGAGGTGGCATCAGGCCACGA
Celera SNP ID:                hCV8745699
SNP Position Transcript:      19
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,12|C,1) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:281, None



Gene Number:                  9
Celera Gene:                  hCG1643352 - 30000053451668
Celera Transcript:            hCT1643479 - 30000053451669
Public Transcript Accession:  NM_001547
Celera Protein:               hCP1622698 - 30000053451666
Public Protein Accession:     NP_001538
Gene Symbol:                  IFIT2
Protein Name:                  interferon-induced protein with tetratricopeptide repeats 2
Celera Genomic Axis:          GA_x54KRFTF114(43035252..43054127)
Chromosome:                   10
OMIM NUMBER:                  147040
OMIM Information:


Transcript Sequence  (SEQ ID NO:21):
ATTGGTGGCAGAAGAGGAAGATTTCTGAAGAGTGCAGCTGCCTGAACCGAGCCCTGCCGAACAGCTGAGAATTGCACTGCAACCATGAGTGAGAACAATA
AGAATTCCTTGGAGAGCAGCCTACGGCAACTAAAATGCCATTTCACCTGGAACTTGATGGAGGGAGAAAACTCCTTGGATGATTTTGAAGACAAAGTATT
TTACCGGACTGAGTTTCAGAATCGTGAATTCAAAGCCACAATGTGCAACCTACTGGCCTATCTAAAGCACCTCAAAGGGCAAAACGAGGCAGCCCTGGAA
TGCTTACGTAAAGCTGAAGAGTTAATCCAGCAAGAGCATGCTGACCAGGCAGAAATCAGAAGTCTGGTCACCTGGGGAAACTATGCCTGGGTCTACTATC
ACATGGGCCGACTCTCAGACGTTCAGATTTATGTAGACAAGGTGAAACATGTCTGTGAGAAGTTTTCCAGTCCCTATAGAATTGAGAGTCCAGAGCTTGA
CTGTGAGGAAGGGTGGACACGGTTAAAGTGTGGAGGAAACCAAAATGAAAGAGCGAAGGTGTGCTTTGAGAAGGCTCTGGAAAAGAAGCCAAAGAACCCA
GAATTCACCTCTGGACTGGCAATAGCAAGCTACCGTCTGGACAACTGGCCACCATCTCAGAACGCCATTGACCCTCTGAGGCAAGCCATTCGGCTGAATC
CTGACAACCAGTACCTTAAAGTCCTCCTGGCTCTGAAGCTTCATAAGATGCGTGAAGAAGGTGAAGAGGAAGGTGAAGGAGAGAAGTTAGTTGAAGAAGC
CTTGGAGAAAGCCCCAGGTGTAACAGATGTTCTTCGCAGTGCAGCCAAGTTTTATCGAAGAAAAGATGAGCCAGACAAAGCGATTGAACTGCTTAAAAAG
GCTTTAGAATACATACCAAACAATGCCTACCTGCATTGCCAAATTGGGTGCTGCTATAGGGCAAAAGTCTTCCAAGTAATGAATCTAAGAGAGAATGGAA
TGTATGGGAAAAGAAAGTTACTGGAACTAATAGGACACGCTGTGGCTCATCTGAAGAAAGCTGATGAGGCCAATGATAATCTCTTCCGTGTCTGTTCCAT
TCTTGCCAGCCTCCATGCTCTAGCAGATCAGTATGAAGAAGCAGAGTATTACTTCCAAAAGGAATTCAGTAAAGAGCTTACTCCTGTAGCGAAACAACTG
CTCCATCTGCGGTATGGCAACTTTCAGCTGTACCAAATGAAGTGTGAAGACAAGGCCATCCACCACTTTATAGAGGGTGTAAAAATAAACCAGAAATCAA
GGGAGAAAGAAAAGATGAAAGACAAACTGCAAAAAATTGCCAAAATGCGACTTTCTAAAAATGGAGCAGATTCTGAGGCTTTGCATGTCTTGGCATTCCT
TCAGGAGCTGAATGAAAAAATGCAACAAGCAGATGAAGACTCTGAGAGGGGTTTGGAGTCTGGAAGCCTCATCCCTTCAGCATCAAGCTGGAATGGGGAA
TGAAGAATAGAGATGTGGTGCCCACTAGGCTACTGCTGAAAGGGAGCTGAAATTCCTCCACCAAGTTGGTATTCAAAATATGTAATGACTGGTATGGCAA
AAGATTGGACTAAGACACTGGCCATACCACTGGACAGGGTTATGTTAACACCTGAATTGCTGGGTCTTGAGAGAGCCCAAGGAGTTCTGGGAGAGGGACC
AGATTGGGGGGTAGGTCCACGGGCTTGGTGATAGAATTATTTCTCGATTGACTTCTTGAGTGCAATTTGAACTGTAACATTTGCTTAGTCACCTTTAGTG
GAGTAATCCACTGGGCTTGTTTCTATATTTATATAAAGCAGCCAAATCCTTCATGTAATATTGAAGTCCATTTTTGCAATGTTGTTCCATACTTGGAGTC
ATTTTGCATCCCATAGAGGTTAGTCCTGCATAGCCAGTAATGTGCTAAGTTCATCCAAAAGCTGGGGGACCAAAGTCTAAATAGGGCTCAGTATCCCCCA
TCGCTTATCTCTGCCTCCTTCCTCCTCCTTCCCAGTCTATCATCAACCTTGAGTATTCTACACAATGTGAATTCAAGTGCCTGATTAATTGAGGTGGCAA
CATAGTTTGAGACGAGGGCAGAGAACAGGAAGATACATAGCTAGAAGCGACGGGTACAAAAAGCAATGTGTACAAGAAGACTTTCAGCAAGTATACAGAG
AGTTCACCTCTACTCTGCCCTCCTCATAGTCATAATGTAGCAAGTAAAGAATGAGAATGGATTCTGTACAATACACTAGAAACCAACATAATGTATTTCT
TTAAAACCTGTGTGAAAAAATAAATGTTCCACCAGTAGGGATAGGGGAAAAGTAACCAAAAGAGAGAAAGAGAAAGGAATGCTGGTTTATCTTTGTAGAT
TGTAATCGAATGGAGAAATTTGCAGTATTTTAGCCACTATTAGGAATTTTTTTTTTTTGTAAAATGAAGACTGAACTCTGTTCAAATGCTTTCATGAACC
TGGTTTGAGACGGTAGGAAAGCAACAAAACGTGGGAACCTGGTGACTAAGGGCCTGGTGCAAGGACTTGGGAAATGTCATTGATAATAGATGGTGGGGTT
TTCCCCCCTTTAGAAATGTTGGATATTAAGTGATATAAACACTTCTTTTAACTCCGAAAATCTTCTGAGAAATCACAAAATTCACGGTATGCTTGGAACG
ATTGAGATTTTCTAGGTAGATGCTGAATAGCCTAGACATCAAAGTTGGTGTGAACCAAAATAGAGTCAGCTGACCCAGCATCAGCCACACTCTGGGTTGG
AAAATGTTTGCCTGTTGGAATTAATTTAAGCTTAAGTATATATCAACATTATTTTATTGTGCAATTAAAACAATACAAATTCATGGTTTTTTAAAGTTAA
AAATTCTAACCACTGTAACAACAGTTTTTGTGTTATTTTCTGTATTAAACATCTTGTTGCACGCATTTGAGGTCATCAGGGTGCAAAATTTGTATTCCTG
AAAATGTCATATATTTTCATTAATAAATAACCTAAATATGAT


Protein Sequence     (SEQ ID NO:282):
MEGENSLDDFEDKVFYRTEFQNREFKATMCNLLAYLKHLKGQNEAALECLRKAEELIQQEHADQAEIRSLVTWGNYAWVYYHMGRLSDVQIYVDKVKHVC
EKFSSPYRIESPELDCEEGWTRLKCGGNQNERAKVCFEKALEKKPKNPEFTSGLAIASYRLDNWPPSQNAIDPLRQAIRLNPDNQYLKVLLALKLHKMRE
EGEEEGEGEKLVEEALEKAPGVTDVLRSAAKFYRRKDEPDKAIELLKKALEYIPNNAYLHCQIGCCYRAKVFQVMNLRENGMYGKRKLLELIGHAVAHLK
KADEANDNLFRVCSILASLHALADQYEEAEYYFQKEFSKELTPVAKQLLHLRYGNFQLYQMKCEDKAIHHFIEGVKINQKSREKEKMKDKLQKIAKMRLS
KNGADSEALHVLAFLQELNEKMQQADEDSERGLESGSLIPSASSWNGE*



SNP Information


Context              (SEQ ID NO:850):
TGTGCTTTGAGAAGGCTCTGGAAAAGAAGCCAAAGAACCCAGAATTCACCTCTGGACTGGCAATAGCAAGCTACCGTCTGGACAACTGGCCACCATCTCA
K
AACGCCATTGACCCTCTGAGGCAAGCCATTCGGCTGAATCCTGACAACCAGTACCTTAAAGTCCTCCTGGCTCTGAAGCTTCATAAGATGCGTGAAGAAG
Celera SNP ID:                hCV7547478
SNP Position Transcript:      660
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 168,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:851):
AAAGCGATTGAACTGCTTAAAAAGGCTTTAGAATACATACCAAACAATGCCTACCTGCATTGCCAAATTGGGTGCTGCTATAGGGCAAAAGTCTTCCAAG
Y
AATGAATCTAAGAGAGAATGGAATGTATGGGAAAAGAAAGTTACTGGAACTAATAGGACACGCTGTGGCTCATCTGAAGAAAGCTGATGAGGCCAATGAT
Celera SNP ID:                hCV25766882
SNP Position Transcript:      977
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 274,(V,GTA) (A,GCA)



Context              (SEQ ID NO:852):
AATCGTGAATTCAAAGCCACAATGTGCAACCTACTGGCCTATCTAAAGCACCTCAAAGGGCAAAACGAGGCAGCCCTGGAATGCTTACGTAAAGCTGAAG
M
GTTAATCCAGCAAGAGCATGCTGACCAGGCAGAAATCAGAAGTCTGGTCACCTGGGGAAACTATGCCTGGGTCTACTATCACATGGGCCGACTCTCAGAC
Celera SNP ID:                hCV2734221
SNP Position Transcript:      320
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|C,3)  african american(A,37|C,1)  total(A,72|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 55,(E,GAG) (A,GCG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,4|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 55,(E,GAG) (A,GCG)



Context              (SEQ ID NO:853):
ATTGGTGGCAGAAGAGGAAGATTTCTGAAGAGTGCA
S
CTGCCTGAACCGAGCCCTGCCGAACAGCTGAGAATTGCACTGCAACCATGAGTGAGAACAATAAGAATTCCTTGGAGAGCAGCCTACGGCAACTAAAATG
Celera SNP ID:                hCV31660390
SNP Position Transcript:      37
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:282, None



Context              (SEQ ID NO:854):
TTAGAATACATACCAAACAATGCCTACCTGCATTGCCAAATTGGGTGCTGCTATAGGGCAAAAGTCTTCCAAGTAATGAATCTAAGAGAGAATGGAATGT
R
TGGGAAAAGAAAGTTACTGGAACTAATAGGACACGCTGTGGCTCATCTGAAGAAAGCTGATGAGGCCAATGATAATCTCTTCCGTGTCTGTTCCATTCTT
Celera SNP ID:                hCV7547471
SNP Position Transcript:      1004
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 283,(Y,TAT) (C,TGT)



Context              (SEQ ID NO:855):
CAGGCAGAAATCAGAAGTCTGGTCACCTGGGGAAACTATGCCTGGGTCTACTATCACATGGGCCGACTCTCAGACGTTCAGATTTATGTAGACAAGGTGA
R
ACATGTCTGTGAGAAGTTTTCCAGTCCCTATAGAATTGAGAGTCCAGAGCTTGACTGTGAGGAAGGGTGGACACGGTTAAAGTGTGGAGGAAACCAAAAT
Celera SNP ID:                hCV2734220
SNP Position Transcript:      446
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,31|G,1)  african american(A,22|G,4)  total(A,53|G,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 97,(K,AAA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,3)  african american(A,21|G,7)  total(A,56|G,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 97,(K,AAA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,2) ; no_pop(G,-|A,-) ; no_pop(G,288|A,1
136)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 97,(K,AAA) (R,AGA)



Context              (SEQ ID NO:856):
CTCTGAAGCTTCATAAGATGCGTGAAGAAGGTGAAGAGGAAGGTGAAGGAGAGAAGTTAGTTGAAGAAGCCTTGGAGAAAGCCCCAGGTGTAACAGATGT
W
CTTCGCAGTGCAGCCAAGTTTTATCGAAGAAAAGATGAGCCAGACAAAGCGATTGAACTGCTTAAAAAGGCTTTAGAATACATACCAAACAATGCCTACC
Celera SNP ID:                hCV2734219
SNP Position Transcript:      831
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,90|T,94) ; no_pop(A,6|T,6) ; no_pop(A,-|T,-) ; no_pop(A,1596|
T,528) ; no_pop(A,120|T,120)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:282, 225,(V,GTT) (V,GTA)



Context              (SEQ ID NO:857):
GTTCAGATTTATGTAGACAAGGTGAAACATGTCTGTGAGAAGTTTTCCAGTCCCTATAGAATTGAGAGTCCAGAGCTTGACTGTGAGGAAGGGTGGACAC
S
GTTAAAGTGTGGAGGAAACCAAAATGAAAGAGCGAAGGTGTGCTTTGAGAAGGCTCTGGAAAAGAAGCCAAAGAACCCAGAATTCACCTCTGGACTGGCA
Celera SNP ID:                hCV25763377
SNP Position Transcript:      521
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 122,(R,CGG) (P,CCG)



Context              (SEQ ID NO:858):
CTGTGGCTCATCTGAAGAAAGCTGATGAGGCCAATGATAATCTCTTCCGTGTCTGTTCCATTCTTGCCAGCCTCCATGCTCTAGCAGATCAGTATGAAGA
M
GCAGAGTATTACTTCCAAAAGGAATTCAGTAAAGAGCTTACTCCTGTAGCGAAACAACTGCTCCATCTGCGGTATGGCAACTTTCAGCTGTACCAAATGA
Celera SNP ID:                hCV2734218
SNP Position Transcript:      1140
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,24|C,10)  african american(A,32|C,4)  total(A,56|C,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 328,(E,GAA) (D,GAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,26|C,10)  african american(A,27|C,3)  total(A,53|C,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 328,(E,GAA) (D,GAC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,152|C,32) ; no_pop(A,10|C,4) ; no_pop(A,-|C,-) ; no_pop(A,604
|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:282, 328,(E,GAA) (D,GAC)



Context              (SEQ ID NO:859):
GGGTAGGTCCACGGGCTTGGTGATAGAATTATTTCTCGATTGACTTCTTGAGTGCAATTTGAACTGTAACATTTGCTTAGTCACCTTTAGTGGAGTAATC
Y
ACTGGGCTTGTTTCTATATTTATATAAAGCAGCCAAATCCTTCATGTAATATTGAAGTCCATTTTTGCAATGTTGTTCCATACTTGGAGTCATTTTGCAT
Celera SNP ID:                hCV2734217
SNP Position Transcript:      1809
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:282, None



Context              (SEQ ID NO:860):
GTCCATTTTTGCAATGTTGTTCCATACTTGGAGTCATTTTGCATCCCATAGAGGTTAGTCCTGCATAGCCAGTAATGTGCTAAGTTCATCCAAAAGCTGG
S
GGACCAAAGTCTAAATAGGGCTCAGTATCCCCCATCGCTTATCTCTGCCTCCTTCCTCCTCCTTCCCAGTCTATCATCAACCTTGAGTATTCTACACAAT
Celera SNP ID:                hCV2734216
SNP Position Transcript:      1966
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,1|G,3) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:282, None



Gene Number:                  10
Celera Gene:                  hCG1644386 - 84000313685442
Celera Transcript:            hCT1644513 - 84000313685443
Public Transcript Accession:
Celera Protein:               hCP1619856 - 197000064934766
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VV34(24527031..24539471)
Chromosome:                   3
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:22):
CCTTCAAAGCCAGTTATACTTTCCAAAAGGGTCATGTTTTCATCCAGGGCTTGCCAGAAGGCCTGGAAGTGTCAAGTCTCCAGCAGATCTCCCAGGTACA
AAATCTGTTGGATCAGCTGCTTTTCTTGATGCGCTTGGATGACCATGTGCTTGCACAGGGTGAAGCTGGTGTGGCATGGGTTGGTAAAGGCCTTCAGCGG
GATCTGGGTGGTGACCGTGGTCTGAAAGAAGGCTGGGTTGAACTAGTACAGCTTCAGGACAGTCAAGCTGGCTTCTAGATCACAGGCATTCTCCTTGGCC
TGTATCTCCACATAGCTCCCCAGGGAGGCCAGGTTCTCAGAATTATACCTGTGGATATTGTTGAGCAACTTGCCCACATTCACTCTCAACTACTAAAACA
TCACTATGACTATGGTCACCTTCCACAACCAGTGCTGGAA


Protein Sequence     (SEQ ID NO:283):
MRLDDHVLAQGEAGVAWVGKGLQRDLGGDRGLKEGWVELVQLQDSQAGF*


SNP Information


Context              (SEQ ID NO:861):
TGGCATGGGTTGGTAAAGGCCTTCAGCGGGATCTGGGTGGTGACCGTGGTCTGAAAGAAGGCTGGGTTGAACTAGTACAGCTTCAGGACAGTCAAGCTGG
Y
TTCTAGATCACAGGCATTCTCCTTGGCCTGTATCTCCACATAGCTCCCCAGGGAGGCCAGGTTCTCAGAATTATACCTGTGGATATTGTTGAGCAACTTG
Celera SNP ID:                hDV70804419
SNP Position Transcript:      272
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:283, 48,(G,GGC) (G,GGT)



Context              (SEQ ID NO:862):
GATCTCCCAGGTACAAAATCTGTTGGATCAGCTGCTTTTCTTGATGCGCTTGGATGACCATGTGCTTGCACAGGGTGAAGCTGGTGTGGCATGGGTTGGT
W
AAGGCCTTCAGCGGGATCTGGGTGGTGACCGTGGTCTGAAAGAAGGCTGGGTTGAACTAGTACAGCTTCAGGACAGTCAAGCTGGCTTCTAGATCACAGG
Celera SNP ID:                hCV9725216
SNP Position Transcript:      186
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,1|A,4) ; no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:283, 20,(K,AAA) (*,TAA)



Gene Number:                  11
Celera Gene:                  hCG1644678 - 84000314193658
Celera Transcript:            hCT1644805 - 84000314193659
Public Transcript Accession:  NM_016591
Celera Protein:               hCP1604499 - 197000064940023
Public Protein Accession:     NP_057675
Gene Symbol:                  C2GNT3
Protein Name:                  core 2 beta-1,6-N-acetylglucosaminyltransferase 3
Celera Genomic Axis:          GA_x5YUV32W40L(3611294..3626730)
Chromosome:                   5
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:23):
TCAATGCACTGTTCAAGGATGTTTGAGAGATTTTCTGTCTTGCCTGAATACAAAACACTGTAGGGAACCTCTTTGTGCTTGACTTTGCACACACACGGGA
TCTTCAGGGTGGGTACATTTAAAACTGACAAGTATTGCCAAATTGCCCCCCAACGTAGTTTTTACACCCCACCTACTACTCTCAGTGAAAAATCAGGCCC
TTTTTATTTTAAGGGCTAAATTGCTAATCCCTGTGTGAAAATGGGTGTTAACAAAATAAAAAATAAGGAAAATATGCAGGCTTACCCAATTTTGTTATCT
ATACATTTTACAGTCTCTAATACTTAGCATAGCTCCTTTGGGTGTCTGCCCACCACCCTTCTTTCTGAACGTGGGGTTCCCTGGGCTTTCCTTGTTTGAC
TTCAGACCTGGATCTAATAGGGATCTGGAGGTAGAATCAAGACGAATGTTCCCTTTGGCCTTAGGTGAGTCCTTTGCATCTCTGAGGCCCTGTTGATGAC
ATCCAGTTCTCTAGACCTCTGCCCAAACCAGAGCAATCCCTCCTCAAATATGCTAAGCAGAAATGCAGACAATATAAGACACACTATATTTATATTTTAG
GAGTTTACATTACCTTCCCTTCTGTTTGGAAACCAACATCTCTCAAAATTAGGTATAGTTAACACAGAATACCCCAAAATACCACCATTCTTCATAATTC
CATTTCCTTATTTCTGGATTCTTTCAAGGGTAAAAACCTTGTTTCATTCATCTTTGGGGCAGCATTTGCCTAGTATGTGGTAGGCGCCCAGTAGATTTTG
GATAAACTGACCTGATTTTCTGTTAATATTCCAACTGGATTATTTCTTTCTCCTCTTACAGAATGAAGATATTCAAATGTTATTTTAAACATACCCTACA
GCAGAAAGTTTTCATCCTGTTTTTAACCCTATGGCTGCTCTCTTTGTTAAAGCTTCTAAATGTGAGACGACTCTTTCCGCAAAAAGACATTTACTTGGTT
GAGTACTCCCTAAGTACCTCGCCTTTTGTAAGAAACAGATACACTCATGTTAAGGATGAAGTCAGGTATGAAGTTAACTGTTCGGGTATCTATGAACAGG
AGCCTTTGGAAATTGGAAAGAGTCTGGAAATAAGAAGAAGGGACATCATTGACTTGGAGGATGATGATGTTGTGGCAATGACCAGTGATTGTGACATTTA
TCAGACTCTAAGAGGTTATGCTCAAAAGCTTGTCTCAAAGGAGGAGAAAAGCTTCCCAATAGCCTATTCTTTGGTTGTCCACAAAGATGCAATTATGGTT
GAAAGGCTTATCCATGCTATATACAACCAGCACAATATTTACTGCATCCATTATGATCGTAAGGCACCTGATACCTTCAAAGTTGCCATGAACAATTTAG
CTAAGTGCTTCTCCAATATTTTCATTGCTTCCAAATTAGAGGCTGTGGAATATGCCCACATTTCCAGACTCCAGGCTGATTTAAATTGCTTGTCGGACCT
TCTGAAGTCTTCAATCCAGTGGAAATATGTTATCAACTTGTGTGGGCAAGATTTTCCCCTGAAGTCAAATTTTGAATTGGTGTCAGAGTTGAAAAAACTC
AATGGAGCAAATATGTTGGAGACGGTGAAACCCCCAAACAGTAAATTGGAAAGATTCACTTACCATCATGAACTTAGACGGGTGCCTTATGAATATGTGA
AGCTACCAATAAGGACAAACATCTCCAAGGAAGCACCCCCCCATAACATTCAGATATTTGTTGGCAGTGCTTATTTTGTTTTAAGTCAAGCATTTGTTAA
ATATATTTTCAACAACTCCATCGTTCAAGACTTTTTTGCCTGGTCTAAAGACACATACTCTCCTGATGAGCACTTTTGGGCTACCTTGATTCGGGTTCCA
GGAATACCTGGGGAGATTTCCAGATCAGCCCAGGATGTGTCTGATCTGCAGAGTAAGACTCGCCTTGTCAAGTGGAATTACTATGAAGGCTTTTTCTATC
CCAGTTGTACTGGATCTCACCTTCGAAGCGTGTGTATTTATGGAGCTGCAGAATTAAGGTGGCTTATCAAAGATGGACATTGGTTTGCTAATAAATTTGA
TTCTAAGGTGGACCCTATCTTGATTAAATGCTTGGCAGAAAAGCTTGAAGAACAGCAGAGAGACTGGATCACTTTGCCCTCAGAAAAGTTATTTATGGAT
AGAAATCTCACTACCACATCATGATAGTAAAATCAGGATGGAAATAAGAGGGTGCCTGATAAATGGAGTCAGTGTGGAATTGAATACCATACTATGCCCA
ATACTGTTTAAACTCAGTCCTCCCATATTTTAAAAGGTGTCCAAAATTCCATACACAAGGGAAAGTGATCTAGCCTTTGATGTTATTAGCCTGCAGTTGG
CTAGGTTTTTTTAATATTTGTTTTTGCTTGTAATCTCACTGAGCCAAATCAGAGATCTTAAACATTCAGTCAGTCATCAAACATTATTGAGCACCTAACT
ATATGACAGGCACTTTTTTAGAGACTGCGGCTTATCCTCATCATAGCAACCTCGGTATCTTTAAGTTCTCCACATAACAGTCAGGATTCTACTGAAGAAG
CTTTTGAAGTTTGTGGTAATCGTCTGATCATATAAACCACCCATTTCAGAGTAGTGTTTAAGTACTGTGACCAACACTCCACTTGTCTCTTAACTCAGCT
TTCAAGACATTTCTTAACCATCAGAGCAGAGGAGGAAAGACTCACTACCTCAGAAAAATCTCAAAGAATAGTCCAATTTCCTGCTTGCCAAAGCATAATC
TGCCTTTTGGTGCATTACTTGGTCAATTCAGGGTTGAGGAGACTGTTGGGGGGCATTTATAATGTATGAAAGTTAAGGAAGGGGGTGAGGATGTGGGTTG
GGACAGGTAGTACCTAAAGAGGAGCGAAGGGATTTATACAACATTTTTATCATGTTACAAAACAGTATCATGAATGGCCTCCTTTTTAGTTCAACTGTTT
CTTTAAAATGCATTTACTGATTAAAAATAAGAACTGACCAATAGCTCCAAGTGTCACACACCAGAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCA
TTCTAGATAAGTTTCTTTACAATGGAATACTTTCTATGGAATCATTATAATTCTGTTGTATGGAACTATCAAGCTAAGAGTCACTAAACTTTCTTCAAAA
GGTTGTGTGAAATATGACAGCTTTCTAAATTAATTTGTATAGTCATTTAAAATTTTTTCTTCTCTGGCAACTGTCCAACTGGAATCCAGATTTAAAGTGA
TAAAAGCTCTAAGTTTCTTGCAGTCTTTTTCTCAGCTTAGTTCCAGAGAGAAAAAAGCTAATTTTCCTAAGGACACAGCAAGAATATTCATTAAGGATAT
TTTCTAAAACCCACACTTGAGAAAACCACCCAATGA


Protein Sequence     (SEQ ID NO:284):
MKIFKCYFKHTLQQKVFILFLTLWLLSLLKLLNVRRLFPQKDIYLVEYSLSTSPFVRNRYTHVKDEVRYEVNCSGIYEQEPLEIGKSLEIRRRDIIDLED
DDVVAMTSDCDIYQTLRGYAQKLVSKEEKSFPIAYSLVVHKDAIMVERLIHAIYNQHNIYCIHYDRKAPDTFKVAMNNLAKCFSNIFIASKLEAVEYAHI
SRLQADLNCLSDLLKSSIQWKYVINLCGQDFPLKSNFELVSELKKLNGANMLETVKPPNSKLERFTYHHELRRVPYEYVKLPIRTNISKEAPPHNIQIFV
GSAYFVLSQAFVKYIFNNSIVQDFFAWSKDTYSPDEHFWATLIRVPGIPGEISRSAQDVSDLQSKTRLVKWNYYEGFFYPSCTGSHLRSVCIYGAAELRW
LIKDGHWFANKFDSKVDPILIKCLAEKLEEQQRDWITLPSEKLFMDRNLTTTS*



SNP Information


Context              (SEQ ID NO:863):
ACATTGGTTTGCTAATAAATTTGATTCTAAGGTGGACCCTATCTTGATTAAATGCTTGGCAGAAAAGCTTGAAGAACAGCAGAGAGACTGGATCACTTTG
Y
CCTCAGAAAAGTTATTTATGGATAGAAATCTCACTACCACATCATGATAGTAAAATCAGGATGGAAATAAGAGGGTGCCTGATAAATGGAGTCAGTGTGG
Celera SNP ID:                hCV26555228
SNP Position Transcript:      2177
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,8|T,1) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:284, 439,(P,CCC) (S,TCC)



Context              (SEQ ID NO:864):
GGCCCTGTTGATGACATCCAGTTCTCTAGACCTCTGCCCAAACCAGAGCAATCCCTCCTCAAATATGCTAAGCAGAAATGCAGACAATATAAGACACACT
M
TATTTATATTTTAGGAGTTTACATTACCTTCCCTTCTGTTTGGAAACCAACATCTCTCAAAATTAGGTATAGTTAACACAGAATACCCCAAAATACCACC
Celera SNP ID:                hCV27854045
SNP Position Transcript:      586
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|A,33)  african american(C,1|A,35)  total(C,4|A,68)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:284, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|A,34)  african american(C,1|A,35)  total(C,5|A,69)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:865):
CTCCAAGGAAGCACCCCCCCATAACATTCAGATATTTGTTGGCAGTGCTTATTTTGTTTTAAGTCAAGCATTTGTTAAATATATTTTCAACAACTCCATC
R
TTCAAGACTTTTTTGCCTGGTCTAAAGACACATACTCTCCTGATGAGCACTTTTGGGCTACCTTGATTCGGGTTCCAGGAATACCTGGGGAGATTTCCAG
Celera SNP ID:                hCV22272667
SNP Position Transcript:      1823
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,984|A,440)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:284, 321,(V,GTT) (I,ATT)



Context              (SEQ ID NO:866):
TTGCCCTCAGAAAAGTTATTTATGGATAGAAATCTCACTACCACATCATGATAGTAAAATCAGGATGGAAATAAGAGGGTGCCTGATAAATGGAGTCAGT
R
TGGAATTGAATACCATACTATGCCCAATACTGTTTAAACTCAGTCCTCCCATATTTTAAAAGGTGTCCAAAATTCCATACACAAGGGAAAGTGATCTAGC
Celera SNP ID:                hCV422545
SNP Position Transcript:      2274
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,8|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:867):
GTTATTTATGGATAGAAATCTCACTACCACATCATGATAGTAAAATCAGGATGGAAATAAGAGGGTGCCTGATAAATGGAGTCAGTGTGGAATTGAATAC
Y
ATACTATGCCCAATACTGTTTAAACTCAGTCCTCCCATATTTTAAAAGGTGTCCAAAATTCCATACACAAGGGAAAGTGATCTAGCCTTTGATGTTATTA
Celera SNP ID:                hCV26555227
SNP Position Transcript:      2288
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,1) ; no_pop(C,-|T,-) ; no_pop(C,87|T,33
)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:868):
CAAAACAGTATCATGAATGGCCTCCTTTTTAGTTCAACTGTTTCTTTAAAATGCATTTACTGATTAAAAATAAGAACTGACCAATAGCTCCAAGTGTCAC
A
CACCAGAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCATTCTAGATAAGTTTCTTTACAATGGAATACTTTCTATGGAATCATTATAATTCTGTTG
Celera SNP ID:                hCV26555226
SNP Position Transcript:      3058
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:869):
AACAGTATCATGAATGGCCTCCTTTTTAGTTCAACTGTTTCTTTAAAATGCATTTACTGATTAAAAATAAGAACTGACCAATAGCTCCAAGTGTCACACA
C
CAGAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCATTCTAGATAAGTTTCTTTACAATGGAATACTTTCTATGGAATCATTATAATTCTGTTGTAT
Celera SNP ID:                hCV26555225
SNP Position Transcript:      3061
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:870):
ACAGTATCATGAATGGCCTCCTTTTTAGTTCAACTGTTTCTTTAAAATGCATTTACTGATTAAAAATAAGAACTGACCAATAGCTCCAAGTGTCACACAC
C
AGAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCATTCTAGATAAGTTTCTTTACAATGGAATACTTTCTATGGAATCATTATAATTCTGTTGTATG
Celera SNP ID:                hCV26555224
SNP Position Transcript:      3062
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:871):
CAGTATCATGAATGGCCTCCTTTTTAGTTCAACTGTTTCTTTAAAATGCATTTACTGATTAAAAATAAGAACTGACCAATAGCTCCAAGTGTCACACACC
A
GAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCATTCTAGATAAGTTTCTTTACAATGGAATACTTTCTATGGAATCATTATAATTCTGTTGTATGG
Celera SNP ID:                hCV26555223
SNP Position Transcript:      3063
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Context              (SEQ ID NO:872):
GACCAATAGCTCCAAGTGTCACACACCAGAACATTAAGCCTAAGTCCTCAATTCATAAGTTATCATTCTAGATAAGTTTCTTTACAATGGAATACTTTCT
R
TGGAATCATTATAATTCTGTTGTATGGAACTATCAAGCTAAGAGTCACTAAACTTTCTTCAAAAGGTTGTGTGAAATATGACAGCTTTCTAAATTAATTT
Celera SNP ID:                hCV29992262
SNP Position Transcript:      3136
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:284, None



Gene Number:                  12
Celera Gene:                  hCG1644805 - 30000035426311
Celera Transcript:            hCT2286120 - 30000035426313
Public Transcript Accession:  NM_005453
Celera Protein:               hCP1854489 - 30000035426316
Public Protein Accession:     NP_005444
Gene Symbol:                  ZNF297
Protein Name:                  zinc finger protein 297
Celera Genomic Axis:          GA_x5YUV32W6W6(6294879..6310191)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:24):
GGCGGCGGGAGGGGCCCAGGTTGCTGCTCTGGCCGCCGAGTGAGGGGCGGGGGGGGCCCGGGGGCGCGCGGCCCGAGACCCCCCCGGCCGCCCTCCTCCT
TTCTTTGTTCCTGTGGCTGGGGGGGTATCCCCTCCCTCCACAACATGGAGCCATCTCCTCTGTCTCCCAGTGGGGCAGCACTTCCCCTGCCGCTGTCGCT
GGCTCCGCCCCCACTACCCCTGCCAGCAGCTGCAGTGGTACATGTGTCCTTCCCTGAGGTGACCAGTGCCCTCTTGGAGTCCCTCAATCAGCAGCGTCTG
CAGGGCCAGCTCTGCGATGTATCTATCAGAGTGCAGGGCCGGGAGTTCCGGGCTCATCGGGCTGTCCTGGCTGCCTCCTCCCCTTACTTCCATGATCAGG
TCCTACTCAAAGGCATGACCTCCATCTCGCTGCCCAGTGTCATGGACCCAGGCGCCTTTGAGACTGTCCTAGCCTCCGCTTACACTGGCCGCCTCAGCAT
GGCTGCTGCTGACATTGTCAACTTCCTTACAGTGGGGTCTGTGCTCCAAATGTGGCACATTGTGGACAAGTGCACTGAACTACTCCGAGAAGGCCGGGCC
TCAGCTACCACCACCATCACTACTGCTGCAGCCACCTCTGTCACTGTCCCTGGTGCTGGGGTGCCATCCGGGAGTGGGGGCACTGTGGCCCCTGCTACCA
TGGGCTCTGCGCGCTCCCATGCCTCCAGCCGGGCCAGTGAGAATCAATCTCCCAGCAGCAGCAACTACTTCAGCCCCAGGGAGTCCACTGATTTCTCATC
TTCCTCCCAAGAGGCATTTGCAGCTTCTGCAGTGGGCAGTGGGGAGCGTCGAGGAGGTGGCCCTGTATTCCCAGCCCCTGTCGTTGGCAGTGGAGGGGCC
ACATCTGGAAAGCTGCTGCTGGAGGCAGATGAGCTGTGCGATGATGGTGGGGATGGGAGGGGGGCAGTGGTTCCTGGGGCTGGGCTCCGGAGACCCACCT
ACACACCCCCTAGCATCATGCCACAGAAACACTGGGTATACGTGAAGCGAGGTGGTAATTGCCCAGCGCCAACACCCCTGGTTCCCCAAGACCCAGATCT
GGAGGAGGAAGAGGAGGAGGAAGATCTGGTGTTGACCTGTGAGGATGATGAAGATGAAGAACTAGGGGGTAGCTCCAGGGTTCCAGTGGGGGGAGGGCCT
GAGGCTACCCTCAGCATAAGTGATGTCCGTACCCTGAGTGAGCCCCCAGACAAGGGGGAGGAGCAGGTCAACTTCTGTGAGTCCTCCAATGACTTTGGCC
CATATGAGGGTGGGGGTCCTGTGGCAGGTCTTGATGACTCAGGGGGGCCAACTCCCTCTTCCTATGCCCCCTCCCACCCTCCTCGACCGCTCCTTCCCTT
GGACATGCAGGGCAACCAGATCCTGGTCTTCCCGTCGTCGTCTTCATCCTCATCCTCACAGGCTCCTGGCCAACCACCAGGGAACCAAGCAGAACACGGG
GCAGTGACCGTGGGGGGCACGTCGGTGGGGAGCCTGGGTGTGCCGGGTAGCGTTGGTGGGGTCCCTGGAGGGACTGGCAGTGGGGACGGGAATAAGATCT
TTCTGTGCCATTGTGGGAAGGCCTTCTCCCACAAGAGCATGCGGGACCGGCACGTGAACATGCACCTCAATCTGCGGCCGTTTGACTGCCCCGTGTGCAA
CAAAAAGTTCAAGATGAAGCACCATCTGACTGAGCACATGAAGACGCACACAGGTCTCAAGCCCTACGAGTGCGGAGTCTGCGCCAAGAAGTTCATGTGG
CGAGACAGCTTCATGCGCCACCGAGGACACTGTGAGCGCCGGCACCGCCTGGGCGGGGTCGGGGCCGTACCTGGGCCTGGGACTCCCACGGGGCCATCCT
TGCCGTCCAAGAGAGAGTCTCCCGGAGTGGGCGGGGGCAGCGGCGACGAAGCGAGTGCGGCCACGCCCCCGTCCAGCAGACGTGTCTGGTCCCCACCCAG
AGTCCACAAGGTGGAGATGGGCTTCGGTGGAGGTGGAGGAGCAAACTGAAGGGGCAGGCTACTGGGGTGGGGTAGCTTTCGGGAAAGGGAATAAGGAGCA
CGATGCAAGGGCGCTGTGGCCCCCGGGTGATCTCCCACCACACTTACTGTCTTCCTTTATCTCTGTGGACTTGTATATATTCTGGAAGGGGAACCACAGT
TTCACCATCGCCCGCCCATTCTACTACTCAACCCCTCCCCCCCAAGGTATTTCCAGAACTAAACCCTTCCTTTCCCTCTGATGGGTACACTGAAGCCCCT
GCTCCACAGAGTAGATTGCACATGGAGGGAGGGAGAGGGGGCGTGTTGAACATCCTGCAGTCACAGGGTCAGGGGTCAGGTGGTTGTAGTCTGTGCCTGA
AGTCTGTGTTTGTGTTGTCGTGGAGACAAGGCCTTTGAGCCCCACCCTTGTCCTAGAACCTACCCCCTCTCAAGGATGCGCTCTTTATTTCTACCCTGTC
TCTCCCCGCCACCCCCGACTTCCCGTGGAAATTCCCAACTCGGTTCTCATGGAGGAGTGGGTGGAGACAAGGAGGGAGTAAGTCGTAGGAGTACAAGGTT
TTTATTTTTTTTAACAGTGATTAAAATATTTATTGGTCATTTAC


Protein Sequence     (SEQ ID NO:285):
MEPSPLSPSGAALPLPLSLAPPPLPLPAAAVVHVSFPEVTSALLESLNQQRLQGQLCDVSIRVQGREFRAHRAVLAASSPYFHDQVLLKGMTSISLPSVM
DPGAFETVLASAYTGRLSMAAADIVNFLTVGSVLQMWHIVDKCTELLREGRASATTTITTAAATSVTVPGAGVPSGSGGTVAPATMGSARSHASSRASEN
QSPSSSNYFSPRESTDFSSSSQEAFAASAVGSGERRGGGPVFPAPVVGSGGATSGKLLLEADELCDDGGDGRGAVVPGAGLRRPTYTPPSIMPQKHWVYV
KRGGNCPAPTPLVPQDPDLEEEEEEEDLVLTCEDDEDEELGGSSRVPVGGGPEATLSISDVRTLSEPPDKGEEQVNFCESSNDFGPYEGGGPVAGLDDSG
GPTPSSYAPSHPPRPLLPLDMQGNQILVFPSSSSSSSSQAPGQPPGNQAEHGAVTVGGTSVGSLGVPGSVGGVPGGTGSGDGNKIFLCHCGKAFSHKSMR
DRHVNMHLNLRPFDCPVCNKKFKMKHHLTEHMKTHTGLKPYECGVCAKKFMWRDSFMRHRGHCERRHRLGGVGAVPGPGTPTGPSLPSKRESPGVGGGSG
DEASAATPPSSRRVWSPPRVHKVEMGFGGGGGAN*



SNP Information


Context              (SEQ ID NO:873):
CGAGGAGGTGGCCCTGTATTCCCAGCCCCTGTCGTTGGCAGTGGAGGGGCCACATCTGGAAAGCTGCTGCTGGAGGCAGATGAGCTGTGCGATGATGGTG
R
GGATGGGAGGGGGGCAGTGGTTCCTGGGGCTGGGCTCCGGAGACCCACCTACACACCCCCTAGCATCATGCCACAGAAACACTGGGTATACGTGAAGCGA
Celera SNP ID:                hCV15877154
SNP Position Transcript:      950
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:285, 269,(G,GGG) (E,GAG)



Context              (SEQ ID NO:874):
TTCTCATCTTCCTCCCAAGAGGCATTTGCAGCTTCTGCAGTGGGCAGTGGGGAGCGTCGAGGAGGTGGCCCTGTATTCCCAGCCCCTGTCGTTGGCAGTG
S
AGGGGCCACATCTGGAAAGCTGCTGCTGGAGGCAGATGAGCTGTGCGATGATGGTGGGGATGGGAGGGGGGCAGTGGTTCCTGGGGCTGGGCTCCGGAGA
Celera SNP ID:                hCV25640380
SNP Position Transcript:      893
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:285, 250,(G,GGA) (A,GCA)



Context              (SEQ ID NO:875):
CGCCACCGAGGACACTGTGAGCGCCGGCACCGCCTGGGCGGGGTCGGGGCCGTACCTGGGCCTGGGACTCCCACGGGGCCATCCTTGCCGTCCAAGAGAG
R
GTCTCCCGGAGTGGGCGGGGGCAGCGGCGACGAAGCGAGTGCGGCCACGCCCCCGTCCAGCAGACGTGTCTGGTCCCCACCCAGAGTCCACAAGGTGGAG
Celera SNP ID:                hCV25640382
SNP Position Transcript:      1916
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:285, 591,(E,GAG) (G,GGG)



Context              (SEQ ID NO:876):
TCAGCATGGCTGCTGCTGACATTGTCAACTTCCTTACAGTGGGGTCTGTGCTCCAAATGTGGCACATTGTGGACAAGTGCACTGAACTACTCCGAGAAGG
S
CGGGCCTCAGCTACCACCACCATCACTACTGCTGCAGCCACCTCTGTCACTGTCCCTGGTGCTGGGGTGCCATCCGGGAGTGGGGGCACTGTGGCCCCTG
Celera SNP ID:                hCV25640381
SNP Position Transcript:      594
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|C,35)  african american(G,0|C,38)  total(G,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:285, 150,(G,GGC) (G,GGG)



Context              (SEQ ID NO:877):
TCCTGGGGCTGGGCTCCGGAGACCCACCTACACACCCCCTAGCATCATGCCACAGAAACACTGGGTATACGTGAAGCGAGGTGGTAATTGCCCAGCGCCA
R
CACCCCTGGTTCCCCAAGACCCAGATCTGGAGGAGGAAGAGGAGGAGGAAGATCTGGTGTTGACCTGTGAGGATGATGAAGATGAAGAACTAGGGGGTAG
Celera SNP ID:                hCV2479331
SNP Position Transcript:      1072
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,6|G,4) ; no_pop(A,-|G,-) ; no_pop(A,288|G,4
08)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:285, 310,(T,ACA) (A,GCA)



Context              (SEQ ID NO:878):
TGGTGTTGACCTGTGAGGATGATGAAGATGAAGAACTAGGGGGTAGCTCCAGGGTTCCAGTGGGGGGAGGGCCTGAGGCTACCCTCAGCATAAGTGATGT
S
CGTACCCTGAGTGAGCCCCCAGACAAGGGGGAGGAGCAGGTCAACTTCTGTGAGTCCTCCAATGACTTTGGCCCATATGAGGGTGGGGGTCCTGTGGCAG
Celera SNP ID:                hCV27467145
SNP Position Transcript:      1227
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:285, 361,(V,GTC) (V,GTG)



Context              (SEQ ID NO:879):
TGCGGCCGTTTGACTGCCCCGTGTGCAACAAAAAGTTCAAGATGAAGCACCATCTGACTGAGCACATGAAGACGCACACAGGTCTCAAGCCCTACGAGTG
Y
GGAGTCTGCGCCAAGAAGTTCATGTGGCGAGACAGCTTCATGCGCCACCGAGGACACTGTGAGCGCCGGCACCGCCTGGGCGGGGTCGGGGCCGTACCTG
Celera SNP ID:                hCV15847607
SNP Position Transcript:      1773
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,1|C,37)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:285, 543,(C,TGC) (C,TGT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,4)  african american(T,1|C,17)  total(T,1|C,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:285, 543,(C,TGC) (C,TGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,10|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:285, 543,(C,TGC) (C,TGT)



Context              (SEQ ID NO:880):
TGTGGACAAGTGCACTGAACTACTCCGAGAAGGCCGGGCCTCAGCTACCACCACCATCACTACTGCTGCAGCCACCTCTGTCACTGTCCCTGGTGCTGGG
S
TGCCATCCGGGAGTGGGGGCACTGTGGCCCCTGCTACCATGGGCTCTGCGCGCTCCCATGCCTCCAGCCGGGCCAGTGAGAATCAATCTCCCAGCAGCAG
Celera SNP ID:                hCV8851482
SNP Position Transcript:      661
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:285, 173,(V,GTG) (L,CTG)



Context              (SEQ ID NO:881):
GGCGCTGTGGCCCCCGGGTGATCTCCCACCACACTTACTGTCTTCCTTTATCTCTGTGGACTTGTATATATTCTGGAAGGGGAACCACAGTTTCACCATC
R
CCCGCCCATTCTACTACTCAACCCCTCCCCCCCAAGGTATTTCCAGAACTAAACCCTTCCTTTCCCTCTGATGGGTACACTGAAGCCCCTGCTCCACAGA
Celera SNP ID:                hCV8851478
SNP Position Transcript:      2210
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:285, None



Context              (SEQ ID NO:882):
CTGTGCCTGAAGTCTGTGTTTGTGTTGTCGTGGAGACAAGGCCTTTGAGCCCCACCCTTGTCCTAGAACCTACCCCCTCTCAAGGATGCGCTCTTTATTT
Y
TACCCTGTCTCTCCCCGCCACCCCCGACTTCCCGTGGAAATTCCCAACTCGGTTCTCATGGAGGAGTGGGTGGAGACAAGGAGGGAGTAAGTCGTAGGAG
Celera SNP ID:                hCV8851477
SNP Position Transcript:      2491
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:285, None



Context              (SEQ ID NO:883):
AAGTCTGTGTTTGTGTTGTCGTGGAGACAAGGCCTTTGAGCCCCACCCTTGTCCTAGAACCTACCCCCTCTCAAGGATGCGCTCTTTATTTCTACCCTGT
Y
TCTCCCCGCCACCCCCGACTTCCCGTGGAAATTCCCAACTCGGTTCTCATGGAGGAGTGGGTGGAGACAAGGAGGGAGTAAGTCGTAGGAGTACAAGGTT
Celera SNP ID:                hCV8851476
SNP Position Transcript:      2500
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:285, None



Context              (SEQ ID NO:884):
CCTTGTCCTAGAACCTACCCCCTCTCAAGGATGCGCTCTTTATTTCTACCCTGTCTCTCCCCGCCACCCCCGACTTCCCGTGGAAATTCCCAACTCGGTT
Y
TCATGGAGGAGTGGGTGGAGACAAGGAGGGAGTAAGTCGTAGGAGTACAAGGTTTTTATTTTTTTTAACAGTGATTAAAATATTTATTGGTCATTTAC
Celera SNP ID:                hCV8851472
SNP Position Transcript:      2546
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:285, None



Gene Number:                  13
Celera Gene:                  hCG1644839 - 116000144845824
Celera Transcript:            hCT1644966 - 116000144845825
Public Transcript Accession:  NM_006687
Celera Protein:               hCP1606385 - 197000069405652
Public Protein Accession:     NP_006678
Gene Symbol:                  ACTL7A
Protein Name:                  actin-like 7A
Celera Genomic Axis:          GA_x5YUV32VU0F(11827510..11841034)
Chromosome:                   9
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:25):
AAATTCTCAGGGTATCCTCTGATGTAGGCCTTTCAGGCCTTGAATCCAGTGGGATTGAGAACTTTCTAAGAGTGGTGCGGCTCTTGACAACATGTGGGCT
CCACCAGCAGCAATCATGGGGGATGGGCCCACCAAGAAGGTGGGCAACCAGGCCCCCCTGCAGACACAGGCCCTCCAGACTGCCTCTTTAAGGGATGGCC
CGGCGAAGCGGGCCGTGTGGGTCCGCCATACGAGTTCAGAGCCACAAGAACCTACTGAATCAAAGGCAGCCAAGGAGAGGCCCAAGCAGGAGGTGACCAA
AGCAGTGGTCGTGGACCTGGGCACTGGCTACTGTAAATGTGGCTTTGCCGGCCTGCCAAGACCCACCCACAAGATCTCAACAACGGTGGGCAAGCCCTAC
ATGGAGACCGCCAAGACTGGGGATAATCGCAAGGAGACATTCGTGGGGCAGGAACTCAACAACACAAACGTTCATCTCAAGCTGGTTAACCCTCTGCGAC
ATGGCATCATCGTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCCCCGGAGGAGCATGCGGTCTTGGTTTC
AGACCCGCCACTGAGCCCACACACCAACAGAGAGAAATATGCTGAAATGCTGTTTGAAGCCTTCAACACCCCTGCAATGCACATCGCCTACCAGTCGCGC
CTGTCCATGTACTCCTATGGAAGGACCTCCGGCCTGGTGGTGGAGGTGGGCCATGGCGTGTCCTACGTGGTCCCCATCTACGAGGGTTATCCTTTGCCCA
GCATCACCGGAAGGCTGGACTACGCGGGCTCTGACCTGACAGCCTACCTGCTGGGCCTGCTGAACAGTGCGGGGAACGAATTCACCCAGGACCAGATGGG
CATCGTGGAGGACATCAAGAAGAAATGCTGCTTTGTGGCCCTGGATCCCATTGAGGAGAAGAAAGTCCCTCTCAGTGAGCATACGATCCGCTACGTGCTG
CCGGATGGGAAGGAGATTCAGCTGTGCCAGGAACGGTTCCTCTGCTCGGAGATGTTCTTCAAGCCATCTCTCATCAAGTCCATGCAGCTGGGCCTCCACA
CCCAAACCGTGTCCTGCCTTAACAAGTGTGACATCGCCCTCAAACGGGACCTCATGGGGAACATCCTGCTCTGCGGGGGCAGCACGATGCTCAGTGGCTT
CCCTAACCGTCTGCAGAAGGAGCTAAGCAGCATGTGTCCCAATGACACCCCGCAGGTAAACGTGCTGCCTGAAAGAGACAGTGCCGTGTGGACCGGTGGC
TCCATCCTGGCCTCACTTCAGGGTTTCCAACCATTGTGGGTCCACCGCTTTGAGTACGAGGAACACGGGCCTTTCTTCCTCTACAGAAGGTGCTTCTGAA
CGGCGACGAGGATGGACACTGCACTGGCAGTGCCTACCCTCGACAGGGTGAGCGCACTCCTACACACAGGGGGTGGAGCCGGCGCTTATTCCTGTAGCAT
TAAACACCCCTCATATGCCCCTCC


Protein Sequence     (SEQ ID NO:286):
MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAAKERPKQEVTKAVVVDLGTGYCKCGFAGLPRPTHKISTTVG
KPYMETAKTGDNRKETFVGQELNNTNVHLKLVNPLRHGIIVDWDTVQDIWEYLFRQEMKIAPEEHAVLVSDPPLSPHTNREKYAEMLFEAFNTPAMHIAY
QSRLSMYSYGRTSGLVVEVGHGVSYVVPIYEGYPLPSITGRLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIR
YVLPDGKEIQLCQERFLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILLCGGSTMLSGFPNRLQKELSSMCPNDTPQVNVLPERDSAVW
TGGSILASLQGFQPLWVHRFEYEEHGPFFLYRRCF*



SNP Information


Context              (SEQ ID NO:885):
TCATCTCAAGCTGGTTAACCCTCTGCGACATGGCATCATCGTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATC
S
CCCCGGAGGAGCATGCGGTCTTGGTTTCAGACCCGCCACTGAGCCCACACACCAACAGAGAGAAATATGCTGAAATGCTGTTTGAAGCCTTCAACACCCC
Celera SNP ID:                hCV25742482
SNP Position Transcript:      572
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|G,31)  african american(C,2|G,34)  total(C,3|G,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 161,(A,GCC) (P,CCC)



Context              (SEQ ID NO:886):
ACTGCCTCTTTAAGGGATGGCCCGGCGAAGCGGGCCGTGTGGGTCCGCCATACGAGTTCAGAGCCACAAGAACCTACTGAATCAAAGGCAGCCAAGGAGA
K
GCCCAAGCAGGAGGTGACCAAAGCAGTGGTCGTGGACCTGGGCACTGGCTACTGTAAATGTGGCTTTGCCGGCCTGCCAAGACCCACCCACAAGATCTCA
Celera SNP ID:                hDV69168738
SNP Position Transcript:      279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 63,(R,AGG) (M,ATG)



Context              (SEQ ID NO:887):
GGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCCCCGGAGGAGCATGCGGTCTTGGTTTCAGACCCGCCACTGAGCCC
W
CACACCAACAGAGAGAAATATGCTGAAATGCTGTTTGAAGCCTTCAACACCCCTGCAATGCACATCGCCTACCAGTCGCGCCTGTCCATGTACTCCTATG
Celera SNP ID:                hCV27471602
SNP Position Transcript:      619
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,1460|T,6) ; no_pop(A,-|T,-) ; no_pop(A,120|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:286, 176,(P,CCA) (P,CCT)



Context              (SEQ ID NO:888):
TACATGGAGACCGCCAAGACTGGGGATAATCGCAAGGAGACATTCGTGGGGCAGGAACTCAACAACACAAACGTTCATCTCAAGCTGGTTAACCCTCTGC
R
ACATGGCATCATCGTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCCCCGGAGGAGCATGCGGTCTTGGTT
Celera SNP ID:                hCV25742365
SNP Position Transcript:      498
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 136,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:889):
TGCTGTTTGAAGCCTTCAACACCCCTGCAATGCACATCGCCTACCAGTCGCGCCTGTCCATGTACTCCTATGGAAGGACCTCCGGCCTGGTGGTGGAGGT
R
GGCCATGGCGTGTCCTACGTGGTCCCCATCTACGAGGGTTATCCTTTGCCCAGCATCACCGGAAGGCTGGACTACGCGGGCTCTGACCTGACAGCCTACC
Celera SNP ID:                hCV25769860
SNP Position Transcript:      748
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,2|G,34)  total(A,2|G,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:286, 219,(V,GTG) (V,GTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2860|A,136) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:286, 219,(V,GTG) (V,GTA)



Context              (SEQ ID NO:890):
GAAGGAGATTCAGCTGTGCCAGGAACGGTTCCTCTGCTCGGAGATGTTCTTCAAGCCATCTCTCATCAAGTCCATGCAGCTGGGCCTCCACACCCAAACC
R
TGTCCTGCCTTAACAAGTGTGACATCGCCCTCAAACGGGACCTCATGGGGAACATCCTGCTCTGCGGGGGCAGCACGATGCTCAGTGGCTTCCCTAACCG
Celera SNP ID:                hCV25767844
SNP Position Transcript:      1109
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,2|G,36)  total(A,2|G,70)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 340,(V,GTG) (M,ATG)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 340,(V,GTG) (M,ATG)



Context              (SEQ ID NO:891):
CCATCCTGGCCTCACTTCAGGGTTTCCAACCATTGTGGGTCCACCGCTTTGAGTACGAGGAACACGGGCCTTTCTTCCTCTACAGAAGGTGCTTCTGAAC
R
GCGACGAGGATGGACACTGCACTGGCAGTGCCTACCCTCGACAGGGTGAGCGCACTCCTACACACAGGGGGTGGAGCCGGCGCTTATTCCTGTAGCATTA
Celera SNP ID:                hCV25748588
SNP Position Transcript:      1402
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,6|G,28)  african american(A,0|G,38)  total(A,6|G,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:286, 437,(T,ACG) (T,ACA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:286, 437,(T,ACG) (T,ACA)



Context              (SEQ ID NO:892):
ATCTCAACAACGGTGGGCAAGCCCTACATGGAGACCGCCAAGACTGGGGATAATCGCAAGGAGACATTCGTGGGGCAGGAACTCAACAACACAAACGTTC
R
TCTCAAGCTGGTTAACCCTCTGCGACATGGCATCATCGTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCC
Celera SNP ID:                hCV25742015
SNP Position Transcript:      474
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:286, 128,(H,CAT) (R,CGT)



Context              (SEQ ID NO:893):
TCCTGGCCTCACTTCAGGGTTTCCAACCATTGTGGGTCCACCGCTTTGAGTACGAGGAACACGGGCCTTTCTTCCTCTACAGAAGGTGCTTCTGAACGGC
R
ACGAGGATGGACACTGCACTGGCAGTGCCTACCCTCGACAGGGTGAGCGCACTCCTACACACAGGGGGTGGAGCCGGCGCTTATTCCTGTAGCATTAAAC
Celera SNP ID:                hCV8779360
SNP Position Transcript:      1405
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:286, None



Gene Number:                  14
Celera Gene:                  hCG1644950 - 146000220592500
Celera Transcript:            hCT1645077 - 146000220592507
Public Transcript Accession:  NM_033122
Celera Protein:               hCP1624766 - 197000069469046
Public Protein Accession:     NP_149113
Gene Symbol:                  NYD-SP26
Protein Name:                  testis development protein NYD-SP26
Celera Genomic Axis:          GA_x5YUV32W7K2(18377388..18391556)
Chromosome:                   4
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:26):
ATCACTCTGATGAACACTGCTCTCCTGCCTAGAGATACCACTGAGTCCAGAAGCAAGACCTGTGAGAGTGCACAGTGCCACTTCGCCCCATGGCTGAAGA
TGGTTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTGACAATGCTATTCCCAAATCA
GAAACAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTA
AAAAGGAAAAACTCAAATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTACAGAAAGAAATTACCTCTCTGACTGGCACTACAAA
CTCCATAACAAGAGACTCTATTACCGAACATTTCATGCCAGTGAAAATTGGGAATATTTCATCACCAGTTACTACTGTTTCTTTAATAGATTTTTCCACT
GACATAGCAAAAGAAGATATCCTCTTAGCTACCATTGACACAGGAGATGCAGAGATCTCAATAACCTCTGAAGTCTCTGGCACACTAAAGGACAGCAGTG
CTGGTGTTGCTGACGCTCCTGCCTTTCCACGTAAAAAGGATGAAGCTGATATGAGCAATTATAATTCCTCCATCAAATCCAATGTCCCTGCTGATGAGGC
TGTCCAGGTCACTGATTCCATTATTCCTGAGGCTGAAATCCCTCCTGCTCCTGAAGAAAGCTTCACTACTATTCCAGACATAACTGCCCTTGAAGAAGAG
AAAATAACCGAAATTGACCTAAGTGTTTTAGAAGATGACACCAGTGCTGTGGCTACATTAACTGACTCTGATGAGAAGTTTATCACTGTGTTTGAACTCA
CTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATTTGGATGGAGAGAGATACTGC
AAATGAAGCAGAGACCCATTCTGTTTTGCTTACTGCTGTTGAATCCAGATATGACTTCGTTGTCCCTGCATCAATAGCTACAAACCTAGTGGAAGAATCA
TCTACAGAAGAAGATTTGTCTGAAACTGATAATACAGAGACTGTACCTAAGATCACTGAGCCATTTTCTGGAACTACCTCTGTATTAGATACCCCAGACT
ATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTTAAAAGCAACAAAAGGGATACCATGT
AGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATGAAAGAATGTGGGCATTTAAGGCAA
GTCTTAAACACTGAATATCACACTCTTCTTATGACTCTTGTTAGCGATTCAAGGACATAAATCTTCATTCTTTTCTGGCACAGACTACTTAAATGGGTCT
GTTTTCACTTTGCTCATTTTTCTTCAATAAATCTTTTTGGCAAGCAACTGATT


Protein Sequence     (SEQ ID NO:287):
MAEDGLPKIYSHPPTESSKTPTAATIFFGADNAIPKSETTITSEGDHVTSVNEYMLESDFSTTTDNKLTAKKEKLKSEDDMGTDFIKSTTHLQKEITSLT
GTTNSITRDSITEHFMPVKIGNISSPVTTVSLIDFSTDIAKEDILLATIDTGDAEISITSEVSGTLKDSSAGVADAPAFPRKKDEADMSNYNSSIKSNVP
ADEAVQVTDSIIPEAEIPPAPEESFTTIPDITALEEEKITEIDLSVLEDDTSAVATLTDSDEKFITVFELTTSAEKDKDKREDTLLTDEETTEGASIWME
RDTANEAETHSVLLTAVESRYDFVVPASIATNLVEESSTEEDLSETDNTETVPKITEPFSGTTSVLDTPDYKEDTSTTETDIFELLKEEPDEFMI*



SNP Information


Context              (SEQ ID NO:894):
TTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTAAAAAGGAAAAACTC
M
AATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTACAGAAAGAAATTACCTCTCTGACTGGCACTACAAACTCCATAACAAGAGA
Celera SNP ID:                hCV27502543
SNP Position Transcript:      315
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,1468|C,24) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 76,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:895):
TATCACTGTGTTTGAACTCACTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATT
K
GGATGGAGAGAGATACTGCAAATGAAGCAGAGACCCATTCTGTTTTGCTTACTGCTGTTGAATCCAGATATGACTTCGTTGTCCCTGCATCAATAGCTAC
Celera SNP ID:                hCV15964790
SNP Position Transcript:      981
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2286|G,610) ; no_pop(T,-|G,-) ; no_pop(T,2216|G,392)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 298,(W,TGG) (G,GGG)



Context              (SEQ ID NO:896):
ACCTCTGTATTAGATACCCCAGACTATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTT
R
AAAGCAACAAAAGGGATACCATGTAGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATG
Celera SNP ID:                hCV1854707
SNP Position Transcript:      1276
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,150|G,34) ; no_pop(A,12|G,2) ; no_pop(A,-|G,-) ; no_pop(A,198
|G,34)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:287, 396,(*,TAA) (*,TGA)



Context              (SEQ ID NO:897):
GCCTTTCCACGTAAAAAGGATGAAGCTGATATGAGCAATTATAATTCCTCCATCAAATCCAATGTCCCTGCTGATGAGGCTGTCCAGGTCACTGATTCCA
Y
TATTCCTGAGGCTGAAATCCCTCCTGCTCCTGAAGAAAGCTTCACTACTATTCCAGACATAACTGCCCTTGAAGAAGAGAAAATAACCGAAATTGACCTA
Celera SNP ID:                hCV1854708
SNP Position Transcript:      721
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,178|C,6) ; no_pop(T,14|C,6) ; no_pop(T,-|C,-) ; no_pop(T,310|
C,42) ; no_pop(T,222|C,18)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 211,(I,ATT) (T,ACT)



Context              (SEQ ID NO:898):
CTTCGCCCCATGGCTGAAGATGGTTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTG
M
CAATGCTATTCCCAAATCAGAAACAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACA
Celera SNP ID:                hCV31138810
SNP Position Transcript:      181
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 31,(D,GAC) (A,GCC)



Context              (SEQ ID NO:899):
TTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTGACAATGCTATTCCCAAATCAGAA
M
CAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTAAAAA
Celera SNP ID:                hCV31138811
SNP Position Transcript:      204
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 39,(T,ACA) (P,CCA)



Context              (SEQ ID NO:900):
TTTTCAACAACTACAGACAACAAACTGACAGCTAAAAAGGAAAAACTCAAATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTAC
R
GAAAGAAATTACCTCTCTGACTGGCACTACAAACTCCATAACAAGAGACTCTATTACCGAACATTTCATGCCAGTGAAAATTGGGAATATTTCATCACCA
Celera SNP ID:                hDV69173044
SNP Position Transcript:      367
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:287, 93,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:901):
AAGAAGAGAAAATAACCGAAATTGACCTAAGTGTTTTAGAAGATGACACCAGTGCTGTGGCTACATTAACTGACTCTGATGAGAAGTTTATCACTGTGTT
Y
GAACTCACTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATTTGGATGGAGAGAG
Celera SNP ID:                hCV25640662
SNP Position Transcript:      893
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,39)  african american(C,0|T,36)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:287, 268,(F,TTT) (F,TTC)



Context              (SEQ ID NO:902):
CCAGACTATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTTAAAAGCAACAAAAGGGAT
R
CCATGTAGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATGAAAGAATGTGGGCATTTA
Celera SNP ID:                hCV25640663
SNP Position Transcript:      1294
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,36|G,0)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:287, None



Gene Number:                  14
Celera Gene:                  hCG1644950 - 146000220592500
Celera Transcript:            hCT2327023 - 146000220592501
Public Transcript Accession:  NM_033122
Celera Protein:               hCP1905781 - 197000069469045
Public Protein Accession:     NP_149113
Gene Symbol:                  NYD-SP26
Protein Name:                  testis development protein NYD-SP26
Celera Genomic Axis:          GA_x5YUV32W7K2(18377388..18391556)
Chromosome:                   4
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:27):
ATCACTCTGATGAACACTGCTCTCCTGCCTAGAGATACCACTGAGTCCAGAAGCAAGACCTGTGAGAGTGCACAGTGCCACTTCGCCCCATGGCTGAAGA
TGGTTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTGACAATGCTATTCCCAAATCA
GAAACAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTA
AAAAGGAAAAACTCAAATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTACAGAAAGAAATTACCTCTCTGACTGGCACTACAAA
CTCCATAACAAGAGACTCTATTACCGAACATTTCATGCCAGTGAAAATTGGGAATATTTCATCACCAGTTACTACTGTTTCTTTAATAGATTTTTCCACT
GACATAGCAAAAGAAGATATCCTCTTAGCTACCATTGACACAGGAGATGCAGAGATCTCAATAACCTCTGAAGTCTCTGGCACACTAAAGGACAGCAGTG
CTGGTGTTGCTGACGCTCCTGCCTTTCCACGTAAAAAGGATGAAGCTGATATGAGCAATTATAATTCCTCCATCAAATCCAATGTCCCTGCTGATGAGGC
TGTCCAGGTCACTGATTCCATTATTCCTGAGGCTGAAATCCCTCCTGCTCCTGAAGAAAGCTTCACTACTATTCCAGACATAACTGCCCTTGAAGAAGAG
AAAATAACCGAAATTGACCTAAGTGTTTTAGAAGATGACACCAGTGCTGTGGCTACATTAACTGACTCTGATGAGAAGTTTATCACTGTGTTTGAACTCA
CTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATTTGGATGGAGAGAGATACTGC
AAATGAAGCAGAGACCCATTCTGTTTTGCTTACTGCTGTTGAATCCAGATATGACTTCGTTGTCCCTGCATCAATAGCTACAAACCTAGTGGAAGAATCA
TCTACAGAAGAAGATTTGTCTGAAACTGATAATACAGAGACTGTACCTAAGATCACTGAGCCATTTTCTGGAACTACCTCTGTATTAGATACCCCAGACT
ATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTTAAAAGCAACAAAAGGGATACCATGT
AGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATGAAAGAATGTGGGCATTTAAGGTCT
TAAACACTGAATATCACACTCTTCTTATGACTCTTGTTAGCGATTCAAGGACATAAATCTTCATTCTTTTCTGGCACAGACTACTTAAATGGGTCTGTTT
TCACTTTGCTCATTTTTCTTCAATAAATCTTTTTGGCAAGCAACTGATT


Protein Sequence     (SEQ ID NO:288):
MAEDGLPKIYSHPPTESSKTPTAATIFFGADNAIPKSETTITSEGDHVTSVNEYMLESDFSTTTDNKLTAKKEKLKSEDDMGTDFIKSTTHLQKEITSLT
GTTNSITRDSITEHFMPVKIGNISSPVTTVSLIDFSTDIAKEDILLATIDTGDAEISITSEVSGTLKDSSAGVADAPAFPRKKDEADMSNYNSSIKSNVP
ADEAVQVTDSIIPEAEIPPAPEESFTTIPDITALEEEKITEIDLSVLEDDTSAVATLTDSDEKFITVFELTTSAEKDKDKREDTLLTDEETTEGASIWME
RDTANEAETHSVLLTAVESRYDFVVPASIATNLVEESSTEEDLSETDNTETVPKITEPFSGTTSVLDTPDYKEDTSTTETDIFELLKEEPDEFMI*



SNP Information


Context              (SEQ ID NO:903):
TTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTAAAAAGGAAAAACTC
M
AATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTACAGAAAGAAATTACCTCTCTGACTGGCACTACAAACTCCATAACAAGAGA
Celera SNP ID:                hCV27502543
SNP Position Transcript:      315
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,1468|C,24) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 76,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:904):
TATCACTGTGTTTGAACTCACTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATT
K
GGATGGAGAGAGATACTGCAAATGAAGCAGAGACCCATTCTGTTTTGCTTACTGCTGTTGAATCCAGATATGACTTCGTTGTCCCTGCATCAATAGCTAC
Celera SNP ID:                hCV15964790
SNP Position Transcript:      981
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2286|G,610) ; no_pop(T,-|G,-) ; no_pop(T,2216|G,392)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 298,(W,TGG) (G,GGG)



Context              (SEQ ID NO:905):
ACCTCTGTATTAGATACCCCAGACTATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTT
R
AAAGCAACAAAAGGGATACCATGTAGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATG
Celera SNP ID:                hCV1854707
SNP Position Transcript:      1276
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,150|G,34) ; no_pop(A,12|G,2) ; no_pop(A,-|G,-) ; no_pop(A,198
|G,34)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:288, 396,(*,TAA) (*,TGA)



Context              (SEQ ID NO:906):
GCCTTTCCACGTAAAAAGGATGAAGCTGATATGAGCAATTATAATTCCTCCATCAAATCCAATGTCCCTGCTGATGAGGCTGTCCAGGTCACTGATTCCA
Y
TATTCCTGAGGCTGAAATCCCTCCTGCTCCTGAAGAAAGCTTCACTACTATTCCAGACATAACTGCCCTTGAAGAAGAGAAAATAACCGAAATTGACCTA
Celera SNP ID:                hCV1854708
SNP Position Transcript:      721
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,178|C,6) ; no_pop(T,14|C,6) ; no_pop(T,-|C,-) ; no_pop(T,310|
C,42) ; no_pop(T,222|C,18)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 211,(I,ATT) (T,ACT)



Context              (SEQ ID NO:907):
CTTCGCCCCATGGCTGAAGATGGTTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTG
M
CAATGCTATTCCCAAATCAGAAACAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACA
Celera SNP ID:                hCV31138810
SNP Position Transcript:      181
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 31,(D,GAC) (A,GCC)



Context              (SEQ ID NO:908):
TTTGCCCAAAATTTATTCTCATCCTCCAACAGAAAGCAGTAAAACACCAACTGCAGCAACCATTTTCTTTGGGGCTGACAATGCTATTCCCAAATCAGAA
M
CAACTATTACTTCAGAAGGAGACCACGTCACTTCAGTAAATGAATATATGCTAGAAAGCGATTTTTCAACAACTACAGACAACAAACTGACAGCTAAAAA
Celera SNP ID:                hCV31138811
SNP Position Transcript:      204
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 39,(T,ACA) (P,CCA)



Context              (SEQ ID NO:909):
TTTTCAACAACTACAGACAACAAACTGACAGCTAAAAAGGAAAAACTCAAATCAGAAGATGATATGGGGACCGACTTTATTAAGTCAACAACTCACCTAC
R
GAAAGAAATTACCTCTCTGACTGGCACTACAAACTCCATAACAAGAGACTCTATTACCGAACATTTCATGCCAGTGAAAATTGGGAATATTTCATCACCA
Celera SNP ID:                hDV69173044
SNP Position Transcript:      367
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:288, 93,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:910):
AAGAAGAGAAAATAACCGAAATTGACCTAAGTGTTTTAGAAGATGACACCAGTGCTGTGGCTACATTAACTGACTCTGATGAGAAGTTTATCACTGTGTT
Y
GAACTCACTACCTCTGCTGAAAAAGACAAAGATAAACGGGAAGATACTCTGCTAACTGATGAAGAAACTACCGAGGGAGCCAGTATTTGGATGGAGAGAG
Celera SNP ID:                hCV25640662
SNP Position Transcript:      893
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,39)  african american(C,0|T,36)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:288, 268,(F,TTT) (F,TTC)



Context              (SEQ ID NO:911):
CCAGACTATAAGGAAGACACCTCCACAACTGAAACGGATATCTTTGAACTACTGAAAGAAGAACCCGATGAGTTCATGATTTAAAAGCAACAAAAGGGAT
R
CCATGTAGAATTGTGCAATAGTCTAGCCAGCTAGCCTTAACATCTAAGAAATTTTTCCAACAAGCAAAAACCTTTAGAAATGAAAGAATGTGGGCATTTA
Celera SNP ID:                hCV25640663
SNP Position Transcript:      1294
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,36|G,0)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:288, None



Gene Number:                  15
Celera Gene:                  hCG1645262 - 104000117307328
Celera Transcript:            hCT1645389 - 104000117307329
Public Transcript Accession:  NM_024059
Celera Protein:               hCP1603486 - 197000069370156
Public Protein Accession:     NP_076964
Gene Symbol:                  MGC5356
Protein Name:                  hypothetical protein MGC5356
Celera Genomic Axis:          GA_x5YUV32VYHA(731139..746809)
Chromosome:                   20
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:28):
GGAAGAGGCCCCAGCACTGACCTCCGTGGGGGTGGAGATGAGGAGGATGGAAAGGGTGTCTTCCTCCAGCATCTTCCTGAAGCTCCCGGATAATGAGCAC
CCATGTGGCAGGCCTGGGCCTGGACAAGATGAAGCTGGGCAATCCCCAGTCCTTCCTGGACCAGGAGGAGGCAGATGACCAGCAGCTGCTGGAACCAGAG
GCGTGGAAGACCTACACCGAGCGCCGCAATGCCCTGCGTGAGTTCCTGACCTCGGACCTGAGTCCGCACCTGCTCAAGCGCCACCACGCCCGCATGCAGC
TGCTGCGTAAGTGCTCCTACTACATCGAGGTCCTGCCCAAGCACCTGGCCCTGGGCGACCAGAACCCGCTGGTGCTGCCTAGCGCCTTGTTCCAGCTCAT
CGACCCCTGGAAGTTCCAGCGCATGAAGAAGGTGGGCACAGCTCAGACCAAGATCCAGCTCCTGCTGCTCGGGGACCTGTTGGAACAGCTCGACCATGGC
CGTGCTGAGCTGGATGCCCTGCTCCGGTCGCCAGACCCACGGCCCTTCCTGGCCGACTGGGCGCTGGTGGAGCGGCGGCTGGCGGACGTGTCGGCCGTCA
TGGACAGCTTCCTGACCATGATGGTGCCGGGGCGGCTACACGTCAAGCACCGCCTGGTGTCTGATGTCAGTGCCACCAAGATCCCGCACATCTGGCTCAT
GCTGAGCACCAAGATGCCTGTCGTGTTTGACCGAAAGGCGTCGGCGGCTCACCAGGACTGGGCCCGGCTGCGCTGGTTCGTCACCATCCAGCCAGCCACA
TCGGAGCAGTATGAGTTGCGCTTCAGGCTGCTGGACCCGCGGACACAGCAGGAGTGCGCCCAGTGTGGCGTCATCCCCGTGGCTGCCTGCACCTTCGACG
TCCGAAACCTGCTGCCCAACCGATCCTATAAGTTCACCATCAAGAGGGCCGAGACCTCCACGCTGGTGTACGAGCCCTGGAGGGACAGCCTCACCCTGCA
CACCAAGCCGGAGCCCCTGGAGGGGCCCGCCCTCAGCCACTCTGTCTGAGAGATGATTTTCTAATATTTATCCACTAATAAAGAAGAGTGTAAATGCACA
TATGGAATTAAAGAAGCA


Protein Sequence     (SEQ ID NO:289):
MSTHVAGLGLDKMKLGNPQSFLDQEEADDQQLLEPEAWKTYTERRNALREFLTSDLSPHLLKRHHARMQLLRKCSYYIEVLPKHLALGDQNPLVLPSALF
QLIDPWKFQRMKKVGTAQTKIQLLLLGDLLEQLDHGRAELDALLRSPDPRPFLADWALVERRLADVSAVMDSFLTMMVPGRLHVKHRLVSDVSATKIPHI
WLMLSTKMPVVFDRKASAAHQDWARLRWFVTIQPATSEQYELRFRLLDPRTQQECAQCGVIPVAACTFDVRNLLPNRSYKFTIKRAETSTLVYEPWRDSL
TLHTKPEPLEGPALSHSV*



SNP Information


Context              (SEQ ID NO:912):
TCCAGCGCATGAAGAAGGTGGGCACAGCTCAGACCAAGATCCAGCTCCTGCTGCTCGGGGACCTGTTGGAACAGCTCGACCATGGCCGTGCTGAGCTGGA
Y
GCCCTGCTCCGGTCGCCAGACCCACGGCCCTTCCTGGCCGACTGGGCGCTGGTGGAGCGGCGGCTGGCGGACGTGTCGGCCGTCATGGACAGCTTCCTGA
Celera SNP ID:                hCV2729318
SNP Position Transcript:      515
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,16|T,22)  african american(C,24|T,12)  total(C,40|T,34)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 141,(D,GAT) (D,GAC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2818|T,186) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 141,(D,GAT) (D,GAC)



Context              (SEQ ID NO:913):
ACCATGGCCGTGCTGAGCTGGATGCCCTGCTCCGGTCGCCAGACCCACGGCCCTTCCTGGCCGACTGGGCGCTGGTGGAGCGGCGGCTGGCGGACGTGTC
R
GCCGTCATGGACAGCTTCCTGACCATGATGGTGCCGGGGCGGCTACACGTCAAGCACCGCCTGGTGTCTGATGTCAGTGCCACCAAGATCCCGCACATCT
Celera SNP ID:                hCV25641691
SNP Position Transcript:      593
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,4|G,32)  total(A,5|G,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 167,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 167,(S,TCG) (S,TCA)



Context              (SEQ ID NO:914):
GTCCGCACCTGCTCAAGCGCCACCACGCCCGCATGCAGCTGCTGCGTAAGTGCTCCTACTACATCGAGGTCCTGCCCAAGCACCTGGCCCTGGGCGACCA
R
AACCCGCTGGTGCTGCCTAGCGCCTTGTTCCAGCTCATCGACCCCTGGAAGTTCCAGCGCATGAAGAAGGTGGGCACAGCTCAGACCAAGATCCAGCTCC
Celera SNP ID:                hCV25641690
SNP Position Transcript:      362
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,2|G,28)  total(A,2|G,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 90,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:915):
GCAATGCCCTGCGTGAGTTCCTGACCTCGGACCTGAGTCCGCACCTGCTCAAGCGCCACCACGCCCGCATGCAGCTGCTGCGTAAGTGCTCCTACTACAT
Y
GAGGTCCTGCCCAAGCACCTGGCCCTGGGCGACCAGAACCCGCTGGTGCTGCCTAGCGCCTTGTTCCAGCTCATCGACCCCTGGAAGTTCCAGCGCATGA
Celera SNP ID:                hCV25641679
SNP Position Transcript:      326
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,0)  african american(C,7|T,1)  total(C,41|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 78,(I,ATC) (I,ATT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,26|T,4)  total(C,66|T,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 78,(I,ATC) (I,ATT)



Context              (SEQ ID NO:916):
AGGAGGAGGCAGATGACCAGCAGCTGCTGGAACCAGAGGCGTGGAAGACCTACACCGAGCGCCGCAATGCCCTGCGTGAGTTCCTGACCTCGGACCTGAG
Y
CCGCACCTGCTCAAGCGCCACCACGCCCGCATGCAGCTGCTGCGTAAGTGCTCCTACTACATCGAGGTCCTGCCCAAGCACCTGGCCCTGGGCGACCAGA
Celera SNP ID:                hCV2729317
SNP Position Transcript:      263
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,16|T,24)  african american(C,23|T,9)  total(C,39|T,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 57,(S,AGT) (S,AGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,18|T,22)  african american(C,23|T,11)  total(C,41|T,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 57,(S,AGT) (S,AGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2772|T,172) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:289, 57,(S,AGT) (S,AGC)



Gene Number:                  16
Celera Gene:                  hCG1646635 - 67000129083335
Celera Transcript:            hCT1646762 - 67000129083336
Public Transcript Accession:
Celera Protein:               hCP1637458 - 197000069434012
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W2JD(14776114..14790471)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:29):
TTCCACTCCCACCCGCCCAGCTCGCGCCACATACAGTCCCTCAACGCGCTCCTGCCGCGCCGCCCCCTCCAGACAGCAGCGTTCCGGATCCTAGACGCTT
TTTGACGGCTGGTCCTCCCCAGAAAATGCGCCGTGTGAGCCCAAACATGGTGGGGTTTACGCTGGACCCCGAGCTTGCAATCTGTGCTTGACAAAACACA
AACATCGCGTGCCTGTCTCCTCCCCCTGAGATCGAGTAGTAACAGCCACTCCAACTCTCCACCTCCAGCTTCTAGCACCAGGGACCGCCTCCACCACCCC
ATGTGCCAAGTGGAGTTCGAGCTGCGCGGCCCTCAAGCAGCTGAAGGGTCCCGTGAGCGATCAGGAGAAGCTGCTGGTCTACGGCTTGTACAAACAGGCC
ACCCAGGGCGACTGCGACATCCCCGGCCCTCCGGCCTCAGACGTGAGAGCCAGGGCCAAGTGGGAGGCTTGGAGCGCGAAAAAAGGGGCGTCCAAGATGG
ACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGA
GGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGA


Protein Sequence     (SEQ ID NO:290):
MCQVEFELRGPQAAEGSRERSGEAAGLRLVQTGHPGRLRHPRPSGLRRESQGQVGGLEREKRGVQDGRHEGLRGQSGGADEEGSGGRGARTKGRARWTP*


SNP Information


Context              (SEQ ID NO:917):
TTCCACTCCCACCCGCCCAGCTCGCGCCACATACAGTCCCTCAACGCGCTCCTGCCGCGCCGCCCCCTCCAGACAGCAGCGTTCCGGATCCTAGAC
R
CTTTTTGACGGCTGGTCCTCCCCAGAAAATGCGCCGTGTGAGCCCAAACATGGTGGGGTTTACGCTGGACCCCGAGCTTGCAATCTGTGCTTGACAAAAC
Celera SNP ID:                hCV7470257
SNP Position Transcript:      97
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,3998|A,978) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,15
6|A,84)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:290, None



Context              (SEQ ID NO:918):
ACTGCGACATCCCCGGCCCTCCGGCCTCAGACGTGAGAGCCAGGGCCAAGTGGGAGGCTTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAG
R
GGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCG
Celera SNP ID:                hCV25643315
SNP Position Transcript:      511
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,1|G,35)  total(A,1|G,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 71,(G,GGG) (R,AGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 71,(G,GGG) (R,AGG)



Context              (SEQ ID NO:919):
ACGGCTTGTACAAACAGGCCACCCAGGGCGACTGCGACATCCCCGGCCCTCCGGCCTCAGACGTGAGAGCCAGGGCCAAGTGGGAGGCTTGGAGCGCGAA
M
AAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCG
Celera SNP ID:                hCV598360
SNP Position Transcript:      481
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 61,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:920):
AAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGT
S
CAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGA
Celera SNP ID:                hCV28006112
SNP Position Transcript:      583
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 95,(A,GCA) (P,CCA)



Context              (SEQ ID NO:921):
GTGGGAGGCTTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGC
K
TGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCG
Celera SNP ID:                hCV27962649
SNP Position Transcript:      560
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 87,(L,CTT) (R,CGT)



Context              (SEQ ID NO:922):
CCAAGTGGGAGGCTTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGG
R
GGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAG
Celera SNP ID:                hCV28006113
SNP Position Transcript:      556
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:290, 86,(G,GGG) (R,AGG)



Context              (SEQ ID NO:923):
GGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGG
R
GGCGTGGAGCGCGAACAAAGGGGCGTCCAAGATGGACGCCATGA
Celera SNP ID:                hCV27508148
SNP Position Transcript:      647
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:290, None



Context              (SEQ ID NO:924):
AAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGT
S
CAAGATGGACGCCATGA
Celera SNP ID:                hCV26749988
SNP Position Transcript:      674
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,2|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:290, None



Gene Number:                  16
Celera Gene:                  hCG1646635 - 67000129083335
Celera Transcript:            hCT2264840 - 67000129083341
Public Transcript Accession:
Celera Protein:               hCP1890749 - 197000069434013
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W2JD(14776114..14790471)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:30):
GCGTAAGACACTTGGAGCGTTAAGACACTTGCTCAAGAACGCAGCTGCCGTTCAGGAAATGAGGCCGTCGGGGCGCCCAGGGGTGCTCGGAGGGAGCCCG
TTTCCCAAAGCACGTGCGCGAGCCCCGGGCGCTTCCAAGGGCTCTAACTTCACGTCTGCTCCGTGTTTTCAAGCGCAGGGGGCCGGAGGCGGCAAGACGC
GGCCCAACGCGCGGCGGGACCCGGACCACCCCCCGCCAAGGCCACCCCGGGACCCCTAGACCCGCCCCGACGCGGGGGACGTTTCGGTCCGGGCCCGCGC
GAGCGTGCGCGACAGGAGGAGACGCGACGGGGCAGCACCGCTCTGGTGGCGCATTGCTGGACGCAGCCCGGGGCCGGGGAGCCGCGGCACCCACCTAGGT
CCATGGCGGCGACGCCGGCGGCTGCGCGGGGCTAACGCCCCCTCCCCTCCGAGAACTCGAACGCGGCGCGGGACGCACGGCACGATGGGAGACGCAGGAG
CCACGGCGGCCGCGCTTAGGCCTGCTCACAACCTCCGCCCGGCCCCGCCCACAGCCTCCGCCGCGCACGCGCAGTCCTCACGAACGAGCGCGCCAAGCGC
ACAGCGCCGCCTTCCGGCAGAGCCCTCCCACCAGCCCTCAGGTACCCGGACGTCGCTCACTAGACCCCTCCGCACCGTCCCCTGCCCGGCCCCTCTTCCG
GGGTCCCAGCGGGTCGGGCTCATGATTCCCCGGCCCCGCATTCACCCTCACCCGCTTCTAGCACCAGGGACCGCCTCCACCACCCCATGTGCCAAGTGGA
GTTCGAGCTGCGCGGCCCTCAAGCAGCTGAAGGGTCCCGTGAGCGATCAGGAGAAGCTGCTGGTCTACGGCTTGTACAAACAGGCCACCCAGGGCGACTG
CGACATCCCCGGCCCTCCGGCCTCAGACGTGAGAGCCAGGGCCAAGTGGGAGGCTTGGAGCGCGAAAAAAGGGGCGTCCAAGATGGACGCCATGAGGGGC
TACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGTGCAAGATGGACGCCATGAGGGGCTACGCGGCC
AAAGTGGAGGAGCTGACGAAGAAGGAAGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAGGAGATGAGGAAGAAGGAGGCTGGCTGA
GGGCTCCTCGGGAATGGAAAGGGCTTCTTAGACCTTGATGGCTGAAATGTCCTGAAACTGTCGCAAGCTTAGCCGAGACATCAATAAATCACTTAAACTG
CATGAGAGTGACTGCTGTTGGAAAGGAGAAACTCGGTGACTGAGTGCTGGGGAGGCGTCCAAATACACAGACTAACTTTTTGTATGGTTTTGGGTGGAGT
TCCCAGCTCTCCTATTACAAGAGCGTATGTAGGTATTTGGAAGGACGAGGGGGACAGTGTGCTGTGGAAATGCCCAAGATCTGAGGGCAGGAGACCATTC
TCCAGTGACAGCCTCTTGGGAGGTTGAGGCCCCAGCCCCTTATCTCTTCAAGGCTGATTTACTAATACCCCAGCACCACAGAGGGGAGAGGGACTCTGTC
CTCCTAAACACTAAAGTCAAGTCCAAAAGCCCCCACTGGAACACAGGGCCTACTTGATGCGCCAGAACACAGCAGTTTAGAAACAATGGAGCAGATGGTG
TCAAAATCCCAGCCCCAGAAAGGCTCACCTAAGG


Protein Sequence     (SEQ ID NO:291):
MGDAGATAAALRPAHNLRPAPPTASAAHAQSSRTSAPSAQRRLPAEPSHQPSGTRTSLTRPLRTVPCPAPLPGSQRVGLMIPRPRIHPHPLLAPGTASTT
PCAKWSSSCAALKQLKGPVSDQEKLLVYGLYKQATQGDCDIPGPPASDVRARAKWEAWSAKKGASKMDAMRGYAAKVEELTKKEVGGVEREQRGVQDGRH
EGLRGQSGGADEEGRASKMDAMRGYAARVRR*



SNP Information


Context              (SEQ ID NO:925):
ATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAGTGAG
K
AGATGAGGAAGAAGGAGGCTGGCTGAGGGCTCCTCGGGAATGGAAAGGGCTTCTTAGACCTTGATGGCTGAAATGTCCTGAAACTGTCGCAAGCTTAGCC
Celera SNP ID:                hCV27962649
SNP Position Transcript:      1174
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 230,(R,AGG) (S,AGT)



Context              (SEQ ID NO:926):
CCGGCGGCTGCGCGGGGCTAACGCCCCCTCCCCTCCGAGAACTCGAACGCGGCGCGGGACGCACGGCACGATGGGAGACGCAGGAGCCACGGCGGCCGCG
S
TTAGGCCTGCTCACAACCTCCGCCCGGCCCCGCCCACAGCCTCCGCCGCGCACGCGCAGTCCTCACGAACGAGCGCGCCAAGCGCACAGCGCCGCCTTCC
Celera SNP ID:                hCV1268474
SNP Position Transcript:      515
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 11,(L,CTT) (V,GTT)



Context              (SEQ ID NO:927):
CGTGCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCC
R
GAGTGAGGAGATGAGGAAGAAGGAGGCTGGCTGAGGGCTCCTCGGGAATGGAAAGGGCTTCTTAGACCTTGATGGCTGAAATGTCCTGAAACTGTCGCAA
Celera SNP ID:                hCV28006113
SNP Position Transcript:      1166
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 228,(R,AGA) (G,GGA)



Context              (SEQ ID NO:928):
CACGGCACGATGGGAGACGCAGGAGCCACGGCGGCCGCGCTTAGGCCTGCTCACAACCTCCGCCCGGCCCCGCCCACAGCCTCCGCCGCGCACGCGCAGT
Y
CTCACGAACGAGCGCGCCAAGCGCACAGCGCCGCCTTCCGGCAGAGCCCTCCCACCAGCCCTCAGGTACCCGGACGTCGCTCACTAGACCCCTCCGCACC
Celera SNP ID:                hCV27898367
SNP Position Transcript:      576
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 31,(S,TCC) (F,TTC)



Context              (SEQ ID NO:929):
ACGATGGGAGACGCAGGAGCCACGGCGGCCGCGCTTAGGCCTGCTCACAACCTCCGCCCGGCCCCGCCCACAGCCTCCGCCGCGCACGCGCAGTCCTCAC
K
AACGAGCGCGCCAAGCGCACAGCGCCGCCTTCCGGCAGAGCCCTCCCACCAGCCCTCAGGTACCCGGACGTCGCTCACTAGACCCCTCCGCACCGTCCCC
Celera SNP ID:                hCV27984187
SNP Position Transcript:      582
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 33,(R,CGA) (L,CTA)



Context              (SEQ ID NO:930):
CGGGACCCGGACCACCCCCCGCCAAGGCCACCCCGGGACCCCTAGACCCGCCCCGACGCGGGGGACGTTTCGGTCCGGGCCCGCGCGAGCGTGCGCGACA
R
GAGGAGACGCGACGGGGCAGCACCGCTCTGGTGGCGCATTGCTGGACGCAGCCCGGGGCCGGGGAGCCGCGGCACCCACCTAGGTCCATGGCGGCGACGC
Celera SNP ID:                hCV11446152
SNP Position Transcript:      315
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,14)  african american(A,16|G,20)  total(A,18|G,34)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:291, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,304|A,56) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:291, None



Context              (SEQ ID NO:931):
ACGCGGGGGACGTTTCGGTCCGGGCCCGCGCGAGCGTGCGCGACAGGAGGAGACGCGACGGGGCAGCACCGCTCTGGTGGCGCATTGCTGGACGCAGCCC
K
GGGCCGGGGAGCCGCGGCACCCACCTAGGTCCATGGCGGCGACGCCGGCGGCTGCGCGGGGCTAACGCCCCCTCCCCTCCGAGAACTCGAACGCGGCGCG
Celera SNP ID:                hCV25608088
SNP Position Transcript:      370
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,16|T,0)  african american(G,35|T,1)  total(G,51|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:291, None



Context              (SEQ ID NO:932):
CTCCGCCCGGCCCCGCCCACAGCCTCCGCCGCGCACGCGCAGTCCTCACGAACGAGCGCGCCAAGCGCACAGCGCCGCCTTCCGGCAGAGCCCTCCCACC
R
GCCCTCAGGTACCCGGACGTCGCTCACTAGACCCCTCCGCACCGTCCCCTGCCCGGCCCCTCTTCCGGGGTCCCAGCGGGTCGGGCTCATGATTCCCCGG
Celera SNP ID:                hCV16061541
SNP Position Transcript:      633
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:291, 50,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:933):
CTGGTGGCGCATTGCTGGACGCAGCCCGGGGCCGGGGAGCCGCGGCACCCACCTAGGTCCATGGCGGCGACGCCGGCGGCTGCGCGGGGCTAACGCCCCC
Y
CCCCTCCGAGAACTCGAACGCGGCGCGGGACGCACGGCACGATGGGAGACGCAGGAGCCACGGCGGCCGCGCTTAGGCCTGCTCACAACCTCCGCCCGGC
Celera SNP ID:                hCV598361
SNP Position Transcript:      443
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:291, None



Context              (SEQ ID NO:934):
AAGGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGTGGGGGGCGTGGAGCGCGAACAAAGGGGCGT
S
CAAGATGGACGCCATGAGGGGCTACGCGGCCAAAGTGGAGGAGCTGACGAAGAAGGAAGGGCGTCCAAGATGGACGCCATGAGGGGCTACGCGGCCAGAG
Celera SNP ID:                hCV28006112
SNP Position Transcript:      1069
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:291, 195,(V,GTC) (V,GTG)



Context              (SEQ ID NO:935):
TTGATGGCTGAAATGTCCTGAAACTGTCGCAAGCTTAGCCGAGACATCAATAAATCACTTAAACTGCATGAGAGTGACTGCTGTTGGAAAGGAGAAACTC
R
GTGACTGAGTGCTGGGGAGGCGTCCAAATACACAGACTAACTTTTTGTATGGTTTTGGGTGGAGTTCCCAGCTCTCCTATTACAAGAGCGTATGTAGGTA
Celera SNP ID:                hCV15912787
SNP Position Transcript:      1335
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,4|G,2) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:291, None



Context              (SEQ ID NO:936):
TGCTGTGGAAATGCCCAAGATCTGAGGGCAGGAGACCATTCTCCAGTGACAGCCTCTTGGGAGGTTGAGGCCCCAGCCCCTTATCTCTTCAAGGCTGATT
Y
ACTAATACCCCAGCACCACAGAGGGGAGAGGGACTCTGTCCTCCTAAACACTAAAGTCAAGTCCAAAAGCCCCCACTGGAACACAGGGCCTACTTGATGC
Celera SNP ID:                hCV11685219
SNP Position Transcript:      1560
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:291, None



Gene Number:                  17
Celera Gene:                  hCG17515 - 145000146857307
Celera Transcript:            hCT1967013 - 145000146857326
Public Transcript Accession:  NM_001350
Celera Protein:               hCP1779989 - 197000069367628
Public Protein Accession:     NP_001341
Gene Symbol:                  DAXX
Protein Name:                  death-associated protein 6
Celera Genomic Axis:          GA_x5YUV32W6W6(6299018..6315430)
Chromosome:                   6
OMIM NUMBER:                  603186
OMIM Information:


Transcript Sequence  (SEQ ID NO:31):
GCGGTGGGAGTGGGAAGGAAGGCGGAGGGAACCATGCGAGGTTCTGAGAATTGCGGCGAGGGTCGCCTCGAGAGACGGTTTCTGAGATCCCCTATGGCCA
CCGCTAACAGCATCATCGTGCTGGATGATGATGACGAAGATGAAGCAGCTGCTCAGCCAGGGCCCTCCCACCCACTCCCCAATGCGGCCTCACCTGGGGC
AGAAGCCCCTAGCTCCTCTGAGCCTCATGGGGCCAGAGGAAGCAGTAGTTCGGGCGGCAAGAAATGCTACAAGCTGGAGAATGAGAAGCTGTTCGAAGAG
TTCCTTGAACTTTGTAAGATGCAGACAGCAGACCACCCTGAGGTGGTCCCATTCCTCTATAACCGGCAGCAACGTGCCCACTCTCTGTTTTTGGCCTCGG
CGGAGTTCTGCAACATCCTCTCTAGGGTCCTGTCTCGGGCCCGGAGCCGGCCAGCCAAGCTCTATGTCTACATCAATGAGCTCTGCACTGTTCTCAAGGC
CCACTCAGCCAAAAAGAAGCTGAACTTGGCCCCTGCCGCCACCACCTCCAATGAGCCCTCTGGGAATAACCCTCCCACACACCTCTCCTTGGACCCCACA
AATGCTGAAAACACTGCCTCTCAGTCTCCAAGGACCCGTGGTTCCCGGCGGCAGATCCAGCGTTTGGAGCAGCTGCTGGCGCTCTATGTGGCAGAGATCC
GGCGGCTGCAGGAAAAGGAGTTGGATCTCTCAGAATTGGATGACCCAGACTCCGCATACCTGCAGGAGGCACGGTTGAAGCGTAAGCTGATCCGCCTCTT
TGGGCGACTATGTGAGCTGAAAGACTGCTCTTCACTGACCGGCCGTGTCATAGAGCAGCGCATCCCCTACCGTGGCACCCGCTACCCAGAGGTTAACAGG
CGCATTGAGCGGCTCATCAACAAGCCAGGGCCTGATACCTTCCCTGACTATGGGGATGTGCTTCGGGCTGTAGAGAAGGCAGCTGCCCGACACAGCCTTG
GCCTCCCCCGACAGCAGCTCCAGCTCATGGCTCAGGATGCCTTCCGAGATGTGGGCATCAGGTTACAGGAGCGACGTCACCTCGATCTCATCTACAACTT
TGGCTGCCACCTCACAGATGACTATAGGCCAGGCGTTGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATG
AGTCGGCTGGATGAGGTCATCTCCAAATATGCAATGTTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTT
CCCACTCTGCAGACACCCCCGAAGCCTCCTTGGATTCTGGTGAGGGCCCTAGTGGAATGGCATCCCAGGGGTGCCCTTCTGCCTCCAGAGCTGAGACAGA
TGACGAAGACGATGAGGAGAGTGATGAGGAAGAGGAGGAGGAGGAGGAAGAAGAAGAGGAGGAGGCCACAGATTCTGAAGAGGAGGAGGATCTGGAACAG
ATGCAGGAGGGTCAGGAGGATGATGAAGAGGAGGACGAAGAGGAAGAAGCAGCAGCAGGTAAAGATGGAGACAAGAGCCCCATGTCCTCACTACAGATCT
CCAATGAAAAGAACCTGGAACCTGGCAAACAGATCAGCAGATCTTCAGGGGAGCAGCAAAACAAAGGACGCATAGTGTCACCATCGTTACTGTCAGAAGA
ACCCCTGGCCCCCTCCAGCATAGATGCTGAAAGCAATGGAGAACAGCCTGAGGAGCTGACCCTGGAGGAAGAAAGCCCTGTGTCTCAGCTCTTTGAGCTA
GAGATTGAAGCTTTGCCCCTGGATACCCCTTCCTCTGTGGAGACGGACATTTCCTCTTCCAGGAAGCAATCAGAGGAGCCCTTCACCACTGTCTTAGAGA
ATGGAGCAGGCATGGTCTCTTCTACTTCCTTCAATGGAGGCGTCTCTCCTCACAACTGGGGAGATTCTGGTCCCCCCTGCAAAAAATCTCGGAAGGAGAA
GAAGCAAACAGGATCAGGGCCATTAGGAAACAGCTATGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGAAAAAGATATGTACCCTGCCCAGCCCA
CCTTCCCCCTTGGCTTCCTTGGCCCCAGTTGCTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTC
CAGCCCGGCTGTCCCAAACCCCCCATTCACAGCCTCCTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCT
CTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGCCTCCAGAATGTTCTGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGG
ACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAAAAAAAAAAAAAGCTTAAGTTTTACACAGAAACATTAATAAACAATAAAGTTCTTTTCTTACTGT
ATCA


Protein Sequence     (SEQ ID NO:292):
MRGSENCGEGRLERRFLRSPMATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYKLENEKLFEEFLELCKMQTAD
HPEVVPFLYNRQQRAHSLFLASAEFCNILSRVLSRARSRPAKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPR
TRGSRRQIQRLEQLLALYVAEIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLCELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGP
DTFPDYGDVLRAVEKAAARHSLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARRLRENRSLAMSRLDEVISKYA
MLQDKSEEGERKKRRARLQGTSSHSADTPEASLDSGEGPSGMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEE
DEEEEAAAGKDGDKSPMSSLQISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAPSSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPS
SVETDISSSRKQSEEPFTTVLENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNGKKICTLPSPPSPLASLAPVA
DSSTRVDSPSHGLVTSSLCIPSPARLSQTPHSQPPRPGTCKTSVATQCDPEEIIVLSDSD*



SNP Information


Context              (SEQ ID NO:937):
CCCCCTTGGCTTCCTTGGCCCCAGTTGCTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTCCAGC
Y
CGGCTGTCCCAAACCCCCCATTCACAGCCTCCTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAG
Celera SNP ID:                hCV11916717
SNP Position Transcript:      2205
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,35)  african american(T,3|C,31)  total(T,4|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 724,(A,GCC) (A,GCT)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 724,(A,GCC) (A,GCT)



Context              (SEQ ID NO:938):
CAGGCATGGTCTCTTCTACTTCCTTCAATGGAGGCGTCTCTCCTCACAACTGGGGAGATTCTGGTCCCCCCTGCAAAAAATCTCGGAAGGAGAAGAAGCA
R
ACAGGATCAGGGCCATTAGGAAACAGCTATGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGAAAAAGATATGTACCCTGCCCAGCCCACCTTCCC
Celera SNP ID:                hCV11916712
SNP Position Transcript:      2007
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,24)  african american(G,4|A,28)  total(G,4|A,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 658,(Q,CAA) (Q,CAG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,172|G,10) ; no_pop(A,16|G,2) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 658,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:939):
CAGGCGTTGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATGAGTCGGCTGGATGAGGTCATCTCCAAATA
Y
GCAATGTTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTTCCCACTCTGCAGACACCCCCGAAGCCTCCT
Celera SNP ID:                hCV2479328
SNP Position Transcript:      1230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,13)  african american(T,36|C,0)  total(T,57|C,13)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 399,(Y,TAT) (Y,TAC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2146|C,826) ; no_pop(T,22|C,14) ; no_pop(T,-|C,-) ; no_pop(T,
596|C,108)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 399,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:940):
AGATGACTATAGGCCAGGCGTTGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATGAGTCGGCTGGATGAG
R
TCATCTCCAAATATGCAATGTTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTTCCCACTCTGCAGACAC
Celera SNP ID:                hCV25763013
SNP Position Transcript:      1216
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:292, 395,(V,GTC) (I,ATC)



Context              (SEQ ID NO:941):
CTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTCCAGCCCGGCTGTCCCAAACCCCCCATTCACA
K
CCTCCTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCC
Celera SNP ID:                hCV11916718
SNP Position Transcript:      2232
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:292, 733,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:942):
CCCTGCAAAAAATCTCGGAAGGAGAAGAAGCAAACAGGATCAGGGCCATTAGGAAACAGCTATGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGA
R
AAAGATATGTACCCTGCCCAGCCCACCTTCCCCCTTGGCTTCCTTGGCCCCAGTTGCTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTG
Celera SNP ID:                hCV8851488
SNP Position Transcript:      2075
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:292, 681,(K,AAA) (R,AGA)



Context              (SEQ ID NO:943):
AGTTCCTTGAACTTTGTAAGATGCAGACAGCAGACCACCCTGAGGTGGTCCCATTCCTCTATAACCGGCAGCAACGTGCCCACTCTCTGTTTTTGGCCTC
R
GCGGAGTTCTGCAACATCCTCTCTAGGGTCCTGTCTCGGGCCCGGAGCCGGCCAGCCAAGCTCTATGTCTACATCAATGAGCTCTGCACTGTTCTCAAGG
Celera SNP ID:                hCV31859800
SNP Position Transcript:      399
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:292, 122,(S,TCG) (S,TCA)



Context              (SEQ ID NO:944):
GTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGCCTCCAGAAT
K
TTCTGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGGACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAAAAAAAAAAAA
Celera SNP ID:                hCV8851487
SNP Position Transcript:      2346
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:292, None



Context              (SEQ ID NO:945):
CTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGCCTCCAGAATGTT
Y
TGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGGACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAAAAAAAAAAAAAGC
Celera SNP ID:                hCV2228535
SNP Position Transcript:      2349
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:292, None



Gene Number:                  17
Celera Gene:                  hCG17515 - 145000146857307
Celera Transcript:            hCT8566 - 145000146857308
Public Transcript Accession:  NM_001350
Celera Protein:               hCP37478 - 197000069367626
Public Protein Accession:     NP_001341
Gene Symbol:                  DAXX
Protein Name:                  death-associated protein 6
Celera Genomic Axis:          GA_x5YUV32W6W6(6299018..6315430)
Chromosome:                   6
OMIM NUMBER:                  603186
OMIM Information:


Transcript Sequence  (SEQ ID NO:32):
CCGGTCCGTAGTGGGGCCTGCGGTGGGAGTGGGAAGGAAGGCGGAGGGAACCATGCGAGGTTCTGAGAATTGCGGCGAGGGTCGCCTCGAGAGACGGTTT
CTGAGCAGGAATTCTGAAATCCCCACCACTTCCTCCCTCCGGGGGATTTGATCCCCTATGGCCACCGCTAACAGCATCATCGTGCTGGATGATGATGACG
AAGATGAAGCAGCTGCTCAGCCAGGGCCCTCCCACCCACTCCCCAATGCGGCCTCACCTGGGGCAGAAGCCCCTAGCTCCTCTGAGCCTCATGGGGCCAG
AGGAAGCAGTAGTTCGGGCGGCAAGAAATGCTACAAGCTGGAGAATGAGAAGCTGTTCGAAGAGTTCCTTGAACTTTGTAAGATGCAGACAGCAGACCAC
CCTGAGGTGGTCCCATTCCTCTATAACCGGCAGCAACGTGCCCACTCTCTGTTTTTGGCCTCGGCGGAGTTCTGCAACATCCTCTCTAGGGTCCTGTCTC
GGGCCCGGAGCCGGCCAGCCAAGCTCTATGTCTACATCAATGAGCTCTGCACTGTTCTCAAGGCCCACTCAGCCAAAAAGAAGCTGAACTTGGCCCCTGC
CGCCACCACCTCCAATGAGCCCTCTGGGAATAACCCTCCCACACACCTCTCCTTGGACCCCACAAATGCTGAAAACACTGCCTCTCAGTCTCCAAGGACC
CGTGGTTCCCGGCGGCAGATCCAGCGTTTGGAGCAGCTGCTGGCGCTCTATGTGGCAGAGATCCGGCGGCTGCAGGAAAAGGAGTTGGATCTCTCAGAAT
TGGATGACCCAGACTCCGCATACCTGCAGGAGGCACGGTTGAAGCGTAAGCTGATCCGCCTCTTTGGGCGACTATGTGAGCTGAAAGACTGCTCTTCACT
GACCGGCCGTGTCATAGAGCAGCGCATCCCCTACCGTGGCACCCGCTACCCAGAGGTTAACAGGCGCATTGAGCGGCTCATCAACAAGCCAGGGCCTGAT
ACCTTCCCTGACTATGGGGATGTGCTTCGGGCTGTAGAGAAGGCAGCTGCCCGACACAGCCTTGGCCTCCCCCGACAGCAGCTCCAGCTCATGGCTCAGG
ATGCCTTCCGAGATGTGGGCATCAGGTTACAGGAGCGACGTCACCTCGATCTCATCTACAACTTTGGCTGCCACCTCACAGATGACTATAGGCCAGGCGT
TGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATGAGTCGGCTGGATGAGGTCATCTCCAAATATGCAATG
TTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTTCCCACTCTGCAGACACCCCCGAAGCCTCCTTGGATT
CTGGTGAGGGCCCTAGTGGAATGGCATCCCAGGGGTGCCCTTCTGCCTCCAGAGCTGAGACAGATGACGAAGACGATGAGGAGAGTGATGAGGAAGAGGA
GGAGGAGGAGGAAGAAGAAGAGGAGGAGGCCACAGATTCTGAAGAGGAGGAGGATCTGGAACAGATGCAGGAGGGTCAGGAGGATGATGAAGAGGAGGAC
GAAGAGGAAGAAGCAGCAGCAGGTAAAGATGGAGACAAGAGCCCCATGTCCTCACTACAGATCTCCAATGAAAAGAACCTGGAACCTGGCAAACAGATCA
GCAGATCTTCAGGGGAGCAGCAAAACAAAGGACGCATAGTGTCACCATCGTTACTGTCAGAAGAACCCCTGGCCCCCTCCAGCATAGATGCTGAAAGCAA
TGGAGAACAGCCTGAGGAGCTGACCCTGGAGGAAGAAAGCCCTGTGTCTCAGCTCTTTGAGCTAGAGATTGAAGCTTTGCCCCTGGATACCCCTTCCTCT
GTGGAGACGGACATTTCCTCTTCCAGGAAGCAATCAGAGGAGCCCTTCACCACTGTCTTAGAGAATGGAGCAGGCATGGTCTCTTCTACTTCCTTCAATG
GAGGCGTCTCTCCTCACAACTGGGGAGATTCTGGTCCCCCCTGCAAAAAATCTCGGAAGGAGAAGAAGCAAACAGGATCAGGGCCATTAGGAAACAGCTA
TGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGAAAAAGATATGTACCCTGCCCAGCCCACCTTCCCCCTTGGCTTCCTTGGCCCCAGTTGCTGAT
TCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTCCAGCCCGGCTGTCCCAAACCCCCCATTCACAGCCTC
CTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGC
CTCCAGAATGTTCTGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGGACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAA
AAAAAAAAAAAGCTTAAGTTTTACACAGAAACATTAATAAACAATAAAGTTCTTTTCTTACTGTATCA


Protein Sequence     (SEQ ID NO:293):
MATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYKLENEKLFEEFLELCKMQTADHPEVVPFLYNRQQRAHSLFL
ASAEFCNILSRVLSRARSRPAKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPRTRGSRRQIQRLEQLLALYVA
EIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLCELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGPDTFPDYGDVLRAVEKAAARH
SLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARRLRENRSLAMSRLDEVISKYAMLQDKSEEGERKKRRARLQG
TSSHSADTPEASLDSGEGPSGMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEEDEEEEAAAGKDGDKSPMSSL
QISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAPSSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPSSVETDISSSRKQSEEPFTTV
LENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNGKKICTLPSPPSPLASLAPVADSSTRVDSPSHGLVTSSLCI
PSPARLSQTPHSQPPRPGTCKTSVATQCDPEEIIVLSDSD*



SNP Information


Context              (SEQ ID NO:946):
CCCCCTTGGCTTCCTTGGCCCCAGTTGCTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTCCAGC
Y
CGGCTGTCCCAAACCCCCCATTCACAGCCTCCTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAG
Celera SNP ID:                hCV11916717
SNP Position Transcript:      2269
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,35)  african american(T,3|C,31)  total(T,4|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 704,(A,GCC) (A,GCT)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 704,(A,GCC) (A,GCT)



Context              (SEQ ID NO:947):
CAGGCATGGTCTCTTCTACTTCCTTCAATGGAGGCGTCTCTCCTCACAACTGGGGAGATTCTGGTCCCCCCTGCAAAAAATCTCGGAAGGAGAAGAAGCA
R
ACAGGATCAGGGCCATTAGGAAACAGCTATGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGAAAAAGATATGTACCCTGCCCAGCCCACCTTCCC
Celera SNP ID:                hCV11916712
SNP Position Transcript:      2071
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,24)  african american(G,4|A,28)  total(G,4|A,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 638,(Q,CAA) (Q,CAG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,172|G,10) ; no_pop(A,16|G,2) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 638,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:948):
CAGGCGTTGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATGAGTCGGCTGGATGAGGTCATCTCCAAATA
Y
GCAATGTTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTTCCCACTCTGCAGACACCCCCGAAGCCTCCT
Celera SNP ID:                hCV2479328
SNP Position Transcript:      1294
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,13)  african american(T,36|C,0)  total(T,57|C,13)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 379,(Y,TAT) (Y,TAC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2146|C,826) ; no_pop(T,22|C,14) ; no_pop(T,-|C,-) ; no_pop(T,
596|C,108)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 379,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:949):
AGATGACTATAGGCCAGGCGTTGACCCTGCACTATCAGATCCTGTGTTGGCCCGGCGCCTTCGGGAAAACCGGAGTTTGGCCATGAGTCGGCTGGATGAG
R
TCATCTCCAAATATGCAATGTTGCAAGACAAAAGTGAGGAGGGCGAGAGAAAAAAGAGAAGAGCTCGGCTCCAAGGCACCTCTTCCCACTCTGCAGACAC
Celera SNP ID:                hCV25763013
SNP Position Transcript:      1280
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:293, 375,(V,GTC) (I,ATC)



Context              (SEQ ID NO:950):
GTGGGAAGGAAGGCGGAGGGAACCATGCGAGGTTCTGAGAATTGCGGCGAGGGTCGCCTCGAGAGACGGTTTCTGAGCAGGAATTCTGAAATCCCCACCA
Y
TTCCTCCCTCCGGGGGATTTGATCCCCTATGGCCACCGCTAACAGCATCATCGTGCTGGATGATGATGACGAAGATGAAGCAGCTGCTCAGCCAGGGCCC
Celera SNP ID:                hCV25651199
SNP Position Transcript:      129
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,0|C,28)  total(T,1|C,67)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:293, None



Context              (SEQ ID NO:951):
CTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTGACCAGCTCCCTCTGCATCCCTTCTCCAGCCCGGCTGTCCCAAACCCCCCATTCACA
K
CCTCCTCGGCCTGGTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCC
Celera SNP ID:                hCV11916718
SNP Position Transcript:      2296
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:293, 713,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:952):
CCCTGCAAAAAATCTCGGAAGGAGAAGAAGCAAACAGGATCAGGGCCATTAGGAAACAGCTATGTGGAAAGGCAAAGGTCAGTGCATGAGAAGAATGGGA
R
AAAGATATGTACCCTGCCCAGCCCACCTTCCCCCTTGGCTTCCTTGGCCCCAGTTGCTGATTCCTCCACGAGGGTGGACTCTCCCAGCCATGGCCTGGTG
Celera SNP ID:                hCV8851488
SNP Position Transcript:      2139
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:293, 661,(K,AAA) (R,AGA)



Context              (SEQ ID NO:953):
AGTTCCTTGAACTTTGTAAGATGCAGACAGCAGACCACCCTGAGGTGGTCCCATTCCTCTATAACCGGCAGCAACGTGCCCACTCTCTGTTTTTGGCCTC
R
GCGGAGTTCTGCAACATCCTCTCTAGGGTCCTGTCTCGGGCCCGGAGCCGGCCAGCCAAGCTCTATGTCTACATCAATGAGCTCTGCACTGTTCTCAAGG
Celera SNP ID:                hCV31859800
SNP Position Transcript:      463
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:293, 102,(S,TCG) (S,TCA)



Context              (SEQ ID NO:954):
GTACTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGCCTCCAGAAT
K
TTCTGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGGACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAAAAAAAAAAAA
Celera SNP ID:                hCV8851487
SNP Position Transcript:      2410
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:293, None



Context              (SEQ ID NO:955):
CTTGCAAGACAAGTGTGGCCACACAATGCGATCCAGAAGAGATCATCGTGCTCTCAGACTCTGATTAGCTGCCTCCCCTTCTCCCTGCCTCCAGAATGTT
Y
TGGGATAACATTTGGAGGAAGGTGGGAAGCAGATGACTGAGGAAGGGATGGACTAAGCTAATCCCCTTTTGGTGGTGTTTCTTTAAAAAAAAAAAAAAGC
Celera SNP ID:                hCV2228535
SNP Position Transcript:      2413
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:293, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT1962873 - 145000146857356
Public Transcript Accession:
Celera Protein:               hCP1776822 - 197000069367630
Public Protein Accession:
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:33):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGAGCCTGTTCTCA
TCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACAT
GCCCCCCACCTCCGAGGCCGCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTG
GCTGCAACTCCTGGGCTGAATGGCCAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCG
GAAATGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGA
GCTTGCTGTGTACAAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCC
CACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCC
TGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGACTACAGGGGCCCGCCACCACGCCCGGCTAACTTTTTGTGTTTTTAGTAGAGACGGGGTTTC
ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC
GGCGAAACACGATATTGTACTAACATCTTAATTTTGTTATAAAATCTCACAAACCCCCTGACATAGTCTCAGAGATCTGTAGGGCCGAGGTTACATTTGG
AGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCCGCGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAG
ATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCCAATGAACCAAACGCCTCCCGCCCACCTCCAGGTCCCAGTCC
TCTGTTCCCTTTGCCTGGTCCACCCTTGCCCTCCCTGGGTCGCAGACGAGGTCGGCCTCGTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTT
CACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCA
CTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATC


Protein Sequence     (SEQ ID NO:294):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPP
PFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGTTGARHHARLTFCVFSRDGVSPC*



SNP Information


Context              (SEQ ID NO:956):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:294, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:957):
CCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGG
R
GGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATG
Celera SNP ID:                hCV22274368
SNP Position Transcript:      1318
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,5)  total(G,65|A,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:294, 324,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,4)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:294, 324,(G,GGG) (G,GGA)



Context              (SEQ ID NO:958):
GCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGA
S
CCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCT
Celera SNP ID:                hCV27016187
SNP Position Transcript:      790
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,4|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 148,(E,GAG) (D,GAC)



Context              (SEQ ID NO:959):
TACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACATGCCCCCCACCTCCGAGGC
Y
GCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTGGCTGCAACTCCTGGGCTGA
Celera SNP ID:                hCV25762768
SNP Position Transcript:      919
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,16)  african american(T,1|C,33)  total(T,1|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:294, 191,(A,GCC) (A,GCT)



Context              (SEQ ID NO:960):
TGCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGG
M
GCCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGC
Celera SNP ID:                hCV16222876
SNP Position Transcript:      789
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|-,-) ; no_pop(A,4|-,1) ; no_pop(A,-|-,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 148,(E,GAG) (A,GCG)



Context              (SEQ ID NO:961):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:962):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:963):
CAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCGGAAATGGGACCTTCTGGCTGCCTA
S
AGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAAACCCCCCAAA
Celera SNP ID:                hCV11407883
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,2)  african american(G,17|C,9)  total(G,17|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 260,(T,ACA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,22|C,18)  african american(G,24|C,14)  total(G,46|C,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 260,(T,ACA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,1104|C,1892) ; no_pop(G,8|C,16) ; no_pop(G,-|C,-) ; no_pop(G,
748|C,636)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 260,(T,ACA) (R,AGA)



Context              (SEQ ID NO:964):
ACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCC
R
GGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGACTACA
Celera SNP ID:                hDV69171532
SNP Position Transcript:      1344
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:294, 333,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:965):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:966):
TCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCC
R
CGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCCAATGAACC
Celera SNP ID:                hCV11916725
SNP Position Transcript:      1767
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:967):
CAGACGAGGTCGGCCTCGTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAA
Y
GCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGG
Celera SNP ID:                hCV11916728
SNP Position Transcript:      2043
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:294, None



Context              (SEQ ID NO:968):
CCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGAC
Y
GGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATC
Celera SNP ID:                hCV2479349
SNP Position Transcript:      2086
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,553|T,945) ; no_pop(C,2|T,7) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:294, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT1962874 - 145000146857366
Public Transcript Accession:
Celera Protein:               hCP1776843 - 197000069367625
Public Protein Accession:
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:34):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGCGGCGAAACACGATATTGTACTAACATCTTAATTTTGTTATAAAATCTCACAAACCCCCT
GACATAGTCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCA
CCGCCCCGCGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCC
AATGAACCAAACGCCTCCCGCCCACCTCCAGGTCCCAGTCCTCTGTTCCCTTTGCCTGGTCCACCCTTGCCCTCCCTGGGTCGCAGACGAGGTCGGCCTC
GTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGG
ATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATC


Protein Sequence     (SEQ ID NO:295):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPAAKHDIVLTS*



SNP Information


Context              (SEQ ID NO:969):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:295, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:970):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:971):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:972):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:973):
TCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCC
R
CGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCCAATGAACC
Celera SNP ID:                hCV11916725
SNP Position Transcript:      908
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:974):
CAGACGAGGTCGGCCTCGTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAA
Y
GCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGG
Celera SNP ID:                hCV11916728
SNP Position Transcript:      1184
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:295, None



Context              (SEQ ID NO:975):
CCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGAC
Y
GGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATC
Celera SNP ID:                hCV2479349
SNP Position Transcript:      1227
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,553|T,945) ; no_pop(C,2|T,7) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:295, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT2286123 - 145000146857387
Public Transcript Accession:  NM_172209
Celera Protein:               hCP1854498 - 197000069367632
Public Protein Accession:     NP_757346
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:35):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGAGCCTGTTCTCA
TCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACAT
GCCCCCCACCTCCGAGGCCGCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTG
GCTGCAACTCCTGGGCTGAATGGCCAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCG
GAAATGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGA
GCTTGCTGTGTACAAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCC
CACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCC
TGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACGCTATGCCTGTCGAATTCA
CCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTAAGAGCTGGGAGCTCTGCGGAATCTGAGCCAGCACCCAGGAA
GACAGGAGCTCACTCTCACCCCTTCTGCCTGCCAGGTCTTTCAGGGCCCTCCCTTGAGGACAGCGTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGG
CTCTTCAAGGCACTGGGCTGGGCTGGTAAGTGTCAGCCCTACCCTGACCATGACCTGAGGTTGGTGGACTTTCCCCACCTACTCCCAAGAGCCTGACACC
CATCCCTCTGCCCTCCACCTCTACCACTCCAGCATCCCATCCCTTCTCAATCTTTCCCCACAGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGGT
ACAGTGCTCCACCTCTCTGTATCTTTCCCTTGTCACTTTATCTCCTCATCCTATCTCAAAACCCATGGAGGGAGGCTGCTGGTGTGGTAGGCAGAACCTA
GGCTTGGAATTCACACTGATCTGGGTTAAAACCTGGCACTATATCCTAACTGTAGGACTCTTTGAGCATGCTACTTAATCTATATGTTTCCTTGGGTGTA
GGGATTTTAAAAAGTTACTTAGGCAGTGCTGTCCAATAGAAAGATAATGCAAGCCACATATGTAAATTTAAATACTCTAGTACTCACATTAAAAAAATAA
GCAGAAACAGGTAAAATTAACTTAATAATATACCTTATTTAATCTAATAATTCTGGTCCCTTATCTGAAATGCTTGGGTCAGAAGTGTTTTTGGATGTTG
GATTTTTTCAGACTTTGGAATATTTGCATATATTTAATATCTTTGGGATCAGACCCAAATCTAAACACAGAAATCATTTATGTTTCCTATACACCTTATA
CACATGGCCTGAAGATTTTTTTCCTTCTCTTTTTTTCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAAGGAAAACTTCGTCTCAAC


Protein Sequence     (SEQ ID NO:296):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPP
PFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTL
EVAGKSWELCGI*



SNP Information


Context              (SEQ ID NO:976):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:296, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:977):
CCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGG
R
GGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATG
Celera SNP ID:                hCV22274368
SNP Position Transcript:      1318
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,5)  total(G,65|A,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:296, 324,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,4)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:296, 324,(G,GGG) (G,GGA)



Context              (SEQ ID NO:978):
GCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGA
S
CCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCT
Celera SNP ID:                hCV27016187
SNP Position Transcript:      790
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,4|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 148,(E,GAG) (D,GAC)



Context              (SEQ ID NO:979):
TACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACATGCCCCCCACCTCCGAGGC
Y
GCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTGGCTGCAACTCCTGGGCTGA
Celera SNP ID:                hCV25762768
SNP Position Transcript:      919
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,16)  african american(T,1|C,33)  total(T,1|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:296, 191,(A,GCC) (A,GCT)



Context              (SEQ ID NO:980):
TGCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGG
M
GCCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGC
Celera SNP ID:                hCV16222876
SNP Position Transcript:      789
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|-,-) ; no_pop(A,4|-,1) ; no_pop(A,-|-,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 148,(E,GAG) (A,GCG)



Context              (SEQ ID NO:981):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:982):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:983):
CAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCGGAAATGGGACCTTCTGGCTGCCTA
S
AGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAAACCCCCCAAA
Celera SNP ID:                hCV11407883
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,2)  african american(G,17|C,9)  total(G,17|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 260,(T,ACA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,22|C,18)  african american(G,24|C,14)  total(G,46|C,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 260,(T,ACA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,1104|C,1892) ; no_pop(G,8|C,16) ; no_pop(G,-|C,-) ; no_pop(G,
748|C,636)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 260,(T,ACA) (R,AGA)



Context              (SEQ ID NO:984):
ACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCC
R
GGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTG
Celera SNP ID:                hDV69171532
SNP Position Transcript:      1344
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:296, 333,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:985):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:986):
AGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACG
S
TATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTAAGAGCTGGGAGCTCTGCGGAATCT
Celera SNP ID:                hCV30592225
SNP Position Transcript:      1483
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:296, 379,(R,CGC) (R,CGG)



Context              (SEQ ID NO:987):
CTGGGAGCTCTGCGGAATCTGAGCCAGCACCCAGGAAGACAGGAGCTCACTCTCACCCCTTCTGCCTGCCAGGTCTTTCAGGGCCCTCCCTTGAGGACAG
Y
GTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGGTAAGTGTCAGCCCTACCCTGACCATGACCTGAGGTTGG
Celera SNP ID:                hCV25651236
SNP Position Transcript:      1664
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:988):
GCACTATATCCTAACTGTAGGACTCTTTGAGCATGCTACTTAATCTATATGTTTCCTTGGGTGTAGGGATTTTAAAAAGTTACTTAGGCAGTGCTGTCCA
R
TAGAAAGATAATGCAAGCCACATATGTAAATTTAAATACTCTAGTACTCACATTAAAAAAATAAGCAGAAACAGGTAAAATTAACTTAATAATATACCTT
Celera SNP ID:                hCV27469140
SNP Position Transcript:      2136
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:989):
AAAATAAGCAGAAACAGGTAAAATTAACTTAATAATATACCTTATTTAATCTAATAATTCTGGTCCCTTATCTGAAATGCTTGGGTCAGAAGTGTTTTTG
K
ATGTTGGATTTTTTCAGACTTTGGAATATTTGCATATATTTAATATCTTTGGGATCAGACCCAAATCTAAACACAGAAATCATTTATGTTTCCTATACAC
Celera SNP ID:                hCV27467694
SNP Position Transcript:      2294
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:296, None



Context              (SEQ ID NO:990):
ATGTTGGATTTTTTCAGACTTTGGAATATTTGCATATATTTAATATCTTTGGGATCAGACCCAAATCTAAACACAGAAATCATTTATGTTTCCTATACAC
S
TTATACACATGGCCTGAAGATTTTTTTCCTTCTCTTTTTTTCTGAGATCACACCATTGCACTCCAGCCTGGGTGACAAAAGGAAAACTTCGTCTCAAC
Celera SNP ID:                hCV32380160
SNP Position Transcript:      2395
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:296, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT2286125 - 145000146857397
Public Transcript Accession:  NM_003190
Celera Protein:               hCP1854499 - 197000069367633
Public Protein Accession:     NP_003181
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:36):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGAGCCTGTTCTCA
TCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACAT
GCCCCCCACCTCCGAGGCCGCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTG
GCTGCAACTCCTGGGCTGAATGGCCAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCG
GAAATGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGA
GCTTGCTGTGTACAAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCC
CACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCC
TGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACGCTATGCCTGTCGAATTCA
CCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAGCGTAGGCCTTTTCCTG
TCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCAGAGTGAGGGCACT
CACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAGTAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAATCCCTCCAATCTC
TCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAAGGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTCC
GCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCTGGGATT
ACAGGCACATGCCACCACACCCAGTGAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGAT
CTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGGCGAAACACGATATTGTACTAACATCTTAATTTTGTTATAA
AATCTCACAAACCCCCTGACATAGTCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGG
CTCACTTGTCCCCCCCACCGCCCCGCGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAG
GGCTCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAG


Protein Sequence     (SEQ ID NO:297):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPP
PFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTL
EVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE*



SNP Information


Context              (SEQ ID NO:991):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:297, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:297, None



Context              (SEQ ID NO:992):
CCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGG
R
GGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATG
Celera SNP ID:                hCV22274368
SNP Position Transcript:      1318
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,5)  total(G,65|A,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:297, 324,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,4)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:297, 324,(G,GGG) (G,GGA)



Context              (SEQ ID NO:993):
GCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGA
S
CCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCT
Celera SNP ID:                hCV27016187
SNP Position Transcript:      790
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,4|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 148,(E,GAG) (D,GAC)



Context              (SEQ ID NO:994):
TACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACATGCCCCCCACCTCCGAGGC
Y
GCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTGGCTGCAACTCCTGGGCTGA
Celera SNP ID:                hCV25762768
SNP Position Transcript:      919
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,16)  african american(T,1|C,33)  total(T,1|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:297, 191,(A,GCC) (A,GCT)



Context              (SEQ ID NO:995):
TGCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGG
M
GCCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGC
Celera SNP ID:                hCV16222876
SNP Position Transcript:      789
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|-,-) ; no_pop(A,4|-,1) ; no_pop(A,-|-,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 148,(E,GAG) (A,GCG)



Context              (SEQ ID NO:996):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:297, None



Context              (SEQ ID NO:997):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:297, None



Context              (SEQ ID NO:998):
CAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCGGAAATGGGACCTTCTGGCTGCCTA
S
AGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAAACCCCCCAAA
Celera SNP ID:                hCV11407883
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,2)  african american(G,17|C,9)  total(G,17|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 260,(T,ACA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,22|C,18)  african american(G,24|C,14)  total(G,46|C,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 260,(T,ACA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,1104|C,1892) ; no_pop(G,8|C,16) ; no_pop(G,-|C,-) ; no_pop(G,
748|C,636)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 260,(T,ACA) (R,AGA)



Context              (SEQ ID NO:999):
ACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCC
R
GGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTG
Celera SNP ID:                hDV69171532
SNP Position Transcript:      1344
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:297, 333,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1000):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:297, None



Context              (SEQ ID NO:1001):
AGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACG
S
TATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACA
Celera SNP ID:                hCV30592225
SNP Position Transcript:      1483
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:297, 379,(R,CGC) (R,CGG)



Context              (SEQ ID NO:1002):
ATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAG
Y
GTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAG
Celera SNP ID:                hCV25651236
SNP Position Transcript:      1585
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:297, 413,(S,AGC) (S,AGT)



Context              (SEQ ID NO:1003):
AGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCA
K
AGTGAGGGCACTCACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAGTAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAAT
Celera SNP ID:                hCV29654835
SNP Position Transcript:      1688
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:297, 448,(E,GAG) (*,TAG)



Context              (SEQ ID NO:1004):
CAATCTCTCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAAGGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCA
M
TCTTCCGCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCT
Celera SNP ID:                hCV27016162
SNP Position Transcript:      1894
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,10|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:297, None



Context              (SEQ ID NO:1005):
TCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCC
R
CGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTCAGACCGCCGCGCGTCCCTCT
Celera SNP ID:                hCV11916725
SNP Position Transcript:      2325
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:297, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT2286126 - 145000146857374
Public Transcript Accession:  NM_003190
Celera Protein:               hCP1854497 - 197000069367631
Public Protein Accession:     NP_003181
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:37):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGAGCCTGTTCTCA
TCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACAT
GCCCCCCACCTCCGAGGCCGCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTG
GCTGCAACTCCTGGGCTGAATGGCCAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCG
GAAATGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGA
GCTTGCTGTGTACAGTGAGTTGGGGGACAGAGGTCTCCAGGGGTAGAGGGTGGGCACTGGATTGTGGGGACCGTAATAGGGGGAGGGATGATGGATAAGA
GGGTGCCTGGGCAAGTAAGTAGAGATAGAAAGAGGTTCCTGGGAGTTAGAGGGGTAATGGGAGGCTAGAAGTTTCCTGGAAATTTGAGGGGCTTTGACAT
GGGTATTTCTGTGACGCACCAATGGAGAGACAGTGGGTTCCCTATTTCAGGAGAAGAAACCTAACCTTCTTTAGTTCTGAGGAAGCCAGCAGGCAAACTG
AGGGTCTCTTAGGGAGGACAGTATGGACTGATTTCCCTATGCTCATTTCGTCCTCTTTCCCCAGAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTG
CACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCCGGGGTGG
CCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCG
CCCCCAGTCACCACTGAGCAGCATGGGGCACGCTATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGG
TAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAGCGTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGT
CTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCAGAGTGAGGGCACTCACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAG
TAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAATCCCTCCAATCTCTCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAA
GGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTCCGCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCC
TCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCTGGGATTACAGGCACATGCCACCACACCCAGTGAATTTTTGTGTTTTTAGTAGAGAC
GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG
CGCCCGGCGGCGAAACACGATATTGTACTAACATCTTAATTTTGTTATAAAATCTCACAAACCCCCTGACATAGTCTCAGAGATCTGTAGGGCCGAGGTT
ACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCCGCGCTGGAGCCACTGCCTAGTTCTTC
AGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTT
AAGTGATCGTGTGAG


Protein Sequence     (SEQ ID NO:298):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPP
PFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYSELGDRGLQG*



SNP Information


Context              (SEQ ID NO:1006):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1007):
GCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGA
S
CCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCT
Celera SNP ID:                hCV27016187
SNP Position Transcript:      790
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,4|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:298, 148,(E,GAG) (D,GAC)



Context              (SEQ ID NO:1008):
TACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACATGCCCCCCACCTCCGAGGC
Y
GCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTGGCTGCAACTCCTGGGCTGA
Celera SNP ID:                hCV25762768
SNP Position Transcript:      919
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,16)  african american(T,1|C,33)  total(T,1|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:298, 191,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1009):
TGCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGG
M
GCCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGC
Celera SNP ID:                hCV16222876
SNP Position Transcript:      789
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|-,-) ; no_pop(A,4|-,1) ; no_pop(A,-|-,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:298, 148,(E,GAG) (A,GCG)



Context              (SEQ ID NO:1010):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1011):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1012):
CAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCGGAAATGGGACCTTCTGGCTGCCTA
S
AGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAGTGAGTTGGGG
Celera SNP ID:                hCV11407883
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,2)  african american(G,17|C,9)  total(G,17|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:298, 260,(T,ACA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,22|C,18)  african american(G,24|C,14)  total(G,46|C,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:298, 260,(T,ACA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,1104|C,1892) ; no_pop(G,8|C,16) ; no_pop(G,-|C,-) ; no_pop(G,
748|C,636)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:298, 260,(T,ACA) (R,AGA)



Context              (SEQ ID NO:1013):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1014):
CCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAGTGAGTTGGGGGACAGAGGTCTCCAGGGGTAGAGGGTGGGCACTGGATTGTGG
K
GACCGTAATAGGGGGAGGGATGATGGATAAGAGGGTGCCTGGGCAAGTAAGTAGAGATAGAAAGAGGTTCCTGGGAGTTAGAGGGGTAATGGGAGGCTAG
Celera SNP ID:                hCV2479346
SNP Position Transcript:      1268
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,22|G,18)  african american(T,15|G,21)  total(T,37|G,39)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,10|T,6) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1015):
CTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAGTGAGTTGGGGGACAGAGGTCTCCAGGGGTAGAGGGTGGGCACTGGATTGTGGG
K
ACCGTAATAGGGGGAGGGATGATGGATAAGAGGGTGCCTGGGCAAGTAAGTAGAGATAGAAAGAGGTTCCTGGGAGTTAGAGGGGTAATGGGAGGCTAGA
Celera SNP ID:                hCV8851470
SNP Position Transcript:      1269
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,129|G,110)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1016):
TTGCTGTGTACAGTGAGTTGGGGGACAGAGGTCTCCAGGGGTAGAGGGTGGGCACTGGATTGTGGGGACCGTAATAGGGGGAGGGATGATGGATAAGAGG
R
TGCCTGGGCAAGTAAGTAGAGATAGAAAGAGGTTCCTGGGAGTTAGAGGGGTAATGGGAGGCTAGAAGTTTCCTGGAAATTTGAGGGGCTTTGACATGGG
Celera SNP ID:                hCV11407887
SNP Position Transcript:      1303
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,38|A,0)  total(G,71|A,7)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,16|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1017):
GCACTGGATTGTGGGGACCGTAATAGGGGGAGGGATGATGGATAAGAGGGTGCCTGGGCAAGTAAGTAGAGATAGAAAGAGGTTCCTGGGAGTTAGAGGG
R
TAATGGGAGGCTAGAAGTTTCCTGGAAATTTGAGGGGCTTTGACATGGGTATTTCTGTGACGCACCAATGGAGAGACAGTGGGTTCCCTATTTCAGGAGA
Celera SNP ID:                hCV8851466
SNP Position Transcript:      1354
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,27|A,3)  african american(G,32|A,4)  total(G,59|A,7)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,2)  african american(G,28|A,0)  total(G,58|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,110|A,368)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1018):
CTGGGAGTTAGAGGGGTAATGGGAGGCTAGAAGTTTCCTGGAAATTTGAGGGGCTTTGACATGGGTATTTCTGTGACGCACCAATGGAGAGACAGTGGGT
W
CCCTATTTCAGGAGAAGAAACCTAACCTTCTTTAGTTCTGAGGAAGCCAGCAGGCAAACTGAGGGTCTCTTAGGGAGGACAGTATGGACTGATTTCCCTA
Celera SNP ID:                hCV2479347
SNP Position Transcript:      1439
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,8|A,6) ; no_pop(T,216|A,264) ; no_pop(T,123
6|A,840)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1019):
TATTTCTGTGACGCACCAATGGAGAGACAGTGGGTTCCCTATTTCAGGAGAAGAAACCTAACCTTCTTTAGTTCTGAGGAAGCCAGCAGGCAAACTGAGG
R
TCTCTTAGGGAGGACAGTATGGACTGATTTCCCTATGCTCATTTCGTCCTCTTTCCCCAGAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACG
Celera SNP ID:                hCV25651226
SNP Position Transcript:      1504
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,33|A,3)  total(G,65|A,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1020):
CCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGG
R
GGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATG
Celera SNP ID:                hCV22274368
SNP Position Transcript:      1668
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,5)  total(G,65|A,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,4)  total(G,74|A,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1021):
AGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACG
S
TATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACA
Celera SNP ID:                hCV30592225
SNP Position Transcript:      1833
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1022):
ATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAG
Y
GTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAG
Celera SNP ID:                hCV25651236
SNP Position Transcript:      1935
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1023):
AGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCA
K
AGTGAGGGCACTCACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAGTAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAAT
Celera SNP ID:                hCV29654835
SNP Position Transcript:      2038
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1024):
CAATCTCTCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAAGGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCA
M
TCTTCCGCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCT
Celera SNP ID:                hCV27016162
SNP Position Transcript:      2244
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,10|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Context              (SEQ ID NO:1025):
TCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCC
R
CGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTCAGACCGCCGCGCGTCCCTCT
Celera SNP ID:                hCV11916725
SNP Position Transcript:      2675
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:298, None



Gene Number:                  18
Celera Gene:                  hCG17519 - 145000146857343
Celera Transcript:            hCT8570 - 145000146857344
Public Transcript Accession:  NM_003190
Celera Protein:               hCP37489 - 197000069367629
Public Protein Accession:     NP_003181
Gene Symbol:                  TAPBP
Protein Name:                  TAP binding protein (tapasin)
Celera Genomic Axis:          GA_x5YUV32W6W6(6280149..6306850)
Chromosome:                   6
OMIM NUMBER:                  601962
OMIM Information:             Bare lymphocyte syndrome, type I, 604571 (3)


Transcript Sequence  (SEQ ID NO:38):
GGGGACGCGGCACAGATAGGGGGAAGCCGGAGTAATGGTTTTCGGGCAAGTGGATGTTGGAGAGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGG
GTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCT
GCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAG
TGAAAGGAGGAAGAGGAGGCTTCATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTC
TCAGCAGGACCCGCGGTGATCGAGTGTTGGTTCGTGGAGGATGCGAGCGGAAAGGGCCTGGCCAAGAGACCCGGTGCACTGCTGTTGCGCCAGGGACCGG
GGGAACCGCCGCCCCGGCCGGACCTCGACCCTGAGCTCTATCTCAGTGTACACGACCCCGCGGGCGCCCTCCAGGCTGCCTTCAGGCGGTATCCCCGGGG
CGCCCCCGCACCACACTGCGAGATGAGCCGCTTCGTGCCTCTCCCCGCCTCTGCGAAATGGGCCAGCGGCCTGACCCCCGCGCAGAACTGCCCGCGGGCC
CTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGAGCCTGTTCTCA
TCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACAT
GCCCCCCACCTCCGAGGCCGCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTG
GCTGCAACTCCTGGGCTGAATGGCCAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCG
GAAATGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGA
GCTTGCTGTGTACAAACCCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCC
CACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCC
TGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACGCTATGCCTGTCGAATTCA
CCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAGCGTAGGCCTTTTCCTG
TCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCAGAGTGAGGGCACT
CACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAGTAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAATCCCTCCAATCTC
TCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAAGGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTCC
GCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCTGGGATT
ACAGGCACATGCCACCACACCCAGTGAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTG
ATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCAGGCCCGAGAAATGCTTTTTTAAAAAACACACATCTTATGGCAT
TCACCTTCTTGGAGCTCTAGGACAGTGGTTCTCAAAATTTTTTTCTCTCAGGACCTCTTAAAAATCATCAAGGACCCCAAAAAGCTTTTGGGTATGTGGG
TTATAGCTATCAATATTTATGGTACTAGAACTTAAAAGTGAGAAAAATTTAAAACACGAGAATACATAGGCACACATTCTATTCATCGTGGGAACCATGG
TGTCAATACATATCATGTAGCTTCTGAAAAACTCCACTGTACACTTATAGAATGAAGAAGGCAAAAAACTTTTTTTTTTTTTTTTTGAGACTGAGTCTCG
CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC
TCGGACTACAGGCGTCCTCCACCATGCCTGGCTAATATTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTAA
CCTGGTGATCCGCCCGCCTCGGCCTCCCAAAGTATTGGGATTACCCGCGTGAGCCACCGCGCCCGGCTGCAAATAATCTTTCTTTTTTTCTTTTTTTCTG
AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACGGCACGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG
CTTCCCGAGTAGCTGGGACTACAGGGGCCCGCCACCACGCCCGGCTAACTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC
TCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGGCGAAACACGATATTGTACT
AACATCTTAATTTTGTTATAAAATCTCACAAACCCCCTGACATAGTCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCA
AATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCCGCGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCT
CTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCCAATGAACCAAACGCCTCCCGCCCACCTCCAGGTCCCAGTCCTCTGTTCCCTTTGCCTGGTCC
ACCCTTGCCCTCCCTGGGTCGCAGACGAGGTCGGCCTCGTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTG
ATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGC
ATAGGGACCTAAGGCCCACTGGAGGGCGCTCATCAAGTAGCTGCTGGATGTTGACGAAGGAAGCGGCGGCGCAGCTCAGGGATCTCCGAGTCAGGACGGT
CGGCCAGACCCACGGGGTAACGGGTCTAATCGTGTAGGAATAAAGCTGTATTCCAGTGCTTCCAAA


Protein Sequence     (SEQ ID NO:299):
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLP
ASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPP
PFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTL
EVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE*



SNP Information


Context              (SEQ ID NO:1026):
GGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTT
M
ATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCGA
Celera SNP ID:                hCV2479335
SNP Position Transcript:      323
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,1)  african american(C,38|A,0)  total(C,47|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:299, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,10|A,6) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1027):
CCCCCAAAGTGTCCCTGATGCCAGCAACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGG
R
GGCCTGGAGGTGGAGTGGGAACTCCGGGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATG
Celera SNP ID:                hCV22274368
SNP Position Transcript:      1318
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,5)  total(G,65|A,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:299, 324,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,4)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:299, 324,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1028):
GCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGGA
S
CCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCT
Celera SNP ID:                hCV27016187
SNP Position Transcript:      790
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,4|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 148,(E,GAG) (D,GAC)



Context              (SEQ ID NO:1029):
TACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGCTTTGCCTACATGCCCCCCACCTCCGAGGC
Y
GCCTCATCTCTGGCTCCGGGTCCCCCTCCCTTTGGGCTAGAGTGGCGACGCCAGCACCTGGGTAAGGGACATCTGCTCCTGGCTGCAACTCCTGGGCTGA
Celera SNP ID:                hCV25762768
SNP Position Transcript:      919
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,16)  african american(T,1|C,33)  total(T,1|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:299, 191,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1030):
TGCCCGCGGGCCCTGGATGGGGCTTGGCTGATGGTCAGCATATCCAGCCCAGTCCTCAGCCTCTCCAGCCTCTTGCGACCACAGCCAGAGCCTCAGCAGG
M
GCCTGTTCTCATCACCATGGCAACAGTGGTACTGACTGTCCTCACCCACACCCCTGCCCCTCGAGTGAGACTGGGACAAGATGCTCTGCTGGACTTGAGC
Celera SNP ID:                hCV16222876
SNP Position Transcript:      789
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|-,-) ; no_pop(A,4|-,1) ; no_pop(A,-|-,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 148,(E,GAG) (A,GCG)



Context              (SEQ ID NO:1031):
CGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCT
W
CATGGCTGAGGAGGTCGCAGCGCCATGAAGTCCCTGTCTCTGCTCCTCGCTGTGGCTTTGGGCCTGGCGACCGCCGTCTCAGCAGGACCCGCGGTGATCG
Celera SNP ID:                hCV2479334
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,3) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1032):
AGCACACACAGGAGTTGGGGGGCGGGGGAGGGCCTGGGGTTGGGGAGGGCTCGAACTCGGGGCTGCTGGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGT
R
TCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCCCAGGCACCTTCACCTAACCAGAGCGGGGATTTCC
Celera SNP ID:                hCV2479333
SNP Position Transcript:      163
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,10) ; no_pop(A,-|G,-) ; no_pop(A,696|G
,1404)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1033):
CAGATGCCAGCAGCCCAAGAAGGGGCCGTGGCATTTGCTGCTTGGGATGATGATGAGCCATGGGGCCCATGGACCGGAAATGGGACCTTCTGGCTGCCTA
S
AGTTCAACCCTTTCAGGAGGGCACCTATCTGGCCACCATACACCTGCCATACCTGCAAGGACAGGTCACCCTGGAGCTTGCTGTGTACAAACCCCCCAAA
Celera SNP ID:                hCV11407883
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,2)  african american(G,17|C,9)  total(G,17|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 260,(T,ACA) (R,AGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,22|C,18)  african american(G,24|C,14)  total(G,46|C,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 260,(T,ACA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,1104|C,1892) ; no_pop(G,8|C,16) ; no_pop(G,-|C,-) ; no_pop(G,
748|C,636)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 260,(T,ACA) (R,AGA)



Context              (SEQ ID NO:1034):
ACCCTTGCACGGGCCGCCCCAGGGGAGGCACCCCCGGAATTGCTCTGCCTTGTGTCCCACTTCTACCCTTCTGGGGGCCTGGAGGTGGAGTGGGAACTCC
R
GGGTGGCCCAGGGGGCCGCTCTCAGAAGGCCGAGGGGCAGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTG
Celera SNP ID:                hDV69171532
SNP Position Transcript:      1344
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:299, 333,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1035):
GGGTAGTCCAGGAGGGCGCGGTAAGGCTGGGGTGTCCTGGTGAGAACTGGAGAGGATCTACCCGGGTCCCTGCCTGGCCAGTGGGGAAACACCGGTCCCC
S
AGGCACCTTCACCTAACCAGAGCGGGGATTTCCACCGCCCCTCATGCCGCCCTTTGGAGGAAAGTGAAAGTGAAAGGAGGAAGAGGAGGCTTCATGGCTG
Celera SNP ID:                hCV25651224
SNP Position Transcript:      230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,22)  african american(G,4|C,34)  total(G,4|C,56)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1036):
AGAGGTGGCTCTCGGCCCTGCGCCACCATTCCGATGGCTCTGTCAGCCTCTCTGGGCACTTGCAGCCGCCCCCAGTCACCACTGAGCAGCATGGGGCACG
S
TATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACA
Celera SNP ID:                hCV30592225
SNP Position Transcript:      1483
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:299, 379,(R,CGC) (R,CGG)



Context              (SEQ ID NO:1037):
ATGCCTGTCGAATTCACCATCCCAGCCTGCCTGCCTCGGGGCGCAGCGCTGAGGTCACCCTGGAGGTAGCAGGTCTTTCAGGGCCCTCCCTTGAGGACAG
Y
GTAGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAG
Celera SNP ID:                hCV25651236
SNP Position Transcript:      1585
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:299, 413,(S,AGC) (S,AGT)



Context              (SEQ ID NO:1038):
AGGCCTTTTCCTGTCTGCCTTTCTTCTGCTTGGGCTCTTCAAGGCACTGGGCTGGGCTGCTGTCTACCTGTCCACCTGCAAGGATTCAAAGAAGAAAGCA
K
AGTGAGGGCACTCACTGCCATCCTGTGGAAGCCACCATCATCTCTGGCCCAAGCTTCTGTAGTAGCTCCCTAAAATAATACCCTATCATCTGCTCCTAAT
Celera SNP ID:                hCV29654835
SNP Position Transcript:      1688
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:299, 448,(E,GAG) (*,TAG)



Context              (SEQ ID NO:1039):
CAATCTCTCTCCACTGAGTGGCTGGAATGCTTTTTTTTTTTTCTTTCACTTATATAAGGGATAATTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCA
M
TCTTCCGCCCAGGCTGCAGTGCAGTGGCATGATCTTGGCTTACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGTGGCTTCAGCCTCCGGAGTAGCT
Celera SNP ID:                hCV27016162
SNP Position Transcript:      1894
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,10|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1040):
GAACCATGGTGTCAATACATATCATGTAGCTTCTGAAAAACTCCACTGTACACTTATAGAATGAAGAAGGCAAAAAACTTTTTTTTTTTTTTTTTGAGAC
K
GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC
Celera SNP ID:                hCV29528202
SNP Position Transcript:      2492
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1041):
TCTCAGAGATCTGTAGGGCCGAGGTTACATTTGGAGAACCCGTACTCTAGGGCCAAATCCATTCTTCTTGCCCTGGCTCACTTGTCCCCCCCACCGCCCC
R
CGCTGGAGCCACTGCCTAGTTCTTCAGCCCTAGATGGTGCTCGCCAGACCTCCTCTCAATGCTCATCACACACAGGGCTATTCCTTTCCTCCAATGAACC
Celera SNP ID:                hCV11916725
SNP Position Transcript:      3246
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1042):
CAGACGAGGTCGGCCTCGTCATTCCCCGCAGACCGCCGCGCGTCCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAA
Y
GCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGG
Celera SNP ID:                hCV11916728
SNP Position Transcript:      3522
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1043):
CCCTCTTGTGCGGTTCACCACAGTTGTATTTAAGTGATCGTGTGAGTCGTCGTTAAATGCCTGTCTCCCCGCGGATCATGGGCTCCTCGAGGACAGGGAC
Y
GGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATCAAGTAGCTGCTGGATGTTGACGAAGGAAGCG
Celera SNP ID:                hCV2479349
SNP Position Transcript:      3565
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,553|T,945) ; no_pop(C,2|T,7) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1044):
ACTGGCCTGTCTGTCCACTGCTGTAACCCCGCGCCGGCATAGGGACCTAAGGCCCACTGGAGGGCGCTCATCAAGTAGCTGCTGGATGTTGACGAAGGAA
R
CGGCGGCGCAGCTCAGGGATCTCCGAGTCAGGACGGTCGGCCAGACCCACGGGGTAACGGGTCTAATCGTGTAGGAATAAAGCTGTATTCCAGTGCTTCC
Celera SNP ID:                hCV8851464
SNP Position Transcript:      3663
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Context              (SEQ ID NO:1045):
CTAAGGCCCACTGGAGGGCGCTCATCAAGTAGCTGCTGGATGTTGACGAAGGAAGCGGCGGCGCAGCTCAGGGATCTCCGAGTCAGGACGGTCGGCCAGA
S
CCACGGGGTAACGGGTCTAATCGTGTAGGAATAAAGCTGTATTCCAGTGCTTCCAAA
Celera SNP ID:                hCV8851461
SNP Position Transcript:      3709
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:299, None



Gene Number:                  19
Celera Gene:                  hCG17520 - 145000146854449
Celera Transcript:            hCT2286129 - 145000146854472
Public Transcript Accession:  NM_004761
Celera Protein:               hCP1854439 - 197000069367573
Public Protein Accession:     NP_004752
Gene Symbol:                  RGL2
Protein Name:                  ral guanine nucleotide dissociation stimulator-like 2
Celera Genomic Axis:          GA_x5YUV32W6W6(6271960..6291811)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:39):
TAGGGAGGGTAATCCCGTGGGGATGGAGTGACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATG
TCAAATTCTGCTCCTGCCTTCCCCCAGGGGCTGGAGACTGGAATCTTTATTCCAGTTCATTGCGGGTCGACGTGGTCTCCAGAATCCCCGAGTGTAGAGG
CGGAGGACAGTGGAGCTGGGGACTCGGGCGCCTGGGTCCTGGTCCCTGAGCGTCCAGCGCTCCCCTAGTCCGCGGCCCTGGCTCCTGTCCTCACTTCCTT
CCCCTTTTGGCTCCTGCTCTCGGAGCGGGCGGACGCGGGGGGGAGCGGAAAGGGCGGGAGGGCCCAGGAGCCCGGCGGGGGGGTTCAAGGGGGTACGGAA
AAGCCGGGGAGGGGACTCGGTCCGGGGCCGGAGACCGACGGCAACAGCGGCTCAGGACCCACGCTGCCCCCACCCCTCCCGAGCAGGCGCCCCCATGGCC
CGACCCCGCTGATTCCTTCACTCGGCCATGCTCCCGCGGCCCCTGCGGCTGCTTTTGGACACGAGCCCCCCCGGGGGAGTCGTACTGAGCAGCTTCCGAA
GCCGGGACCCCGAAGAGGGTGGGGGCCCAGGTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTG
GGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGG
CTCCGAGCTGGCACTCTGGAGGCCCTGGTCAGACACCTACTGGATACCCGGACATCAGGGACTGATGTGAGCTTCATGTCAGCCTTCCTGGCTACCCACC
GGGCCTTCACCTCCACGCCTGCCTTGCTAGGGCTTATGGCTGACAGGCTGGAAGCCCTTGAATCTCATCCTACCGACGAACTAGAGAGGACAACAGAGGT
AGCCATCTCTGTACTGTCAACCTGGCTGGCCTCTCACCCTGAGGATTTTGGCTCTGAGGCCAAGGGTCAGCTTGACCGGCTTGAGAGCTTCTTACTTCAG
ACAGGGTATGCAGCAGGGAAGGGTGTTGGGGGGGGCAGCGCTGACCTCATCCGCAATCTCCGGTCCCGGGTGGACCCCCAGGCCCCCGACCTTCCTAAGC
CCCTGGCCCTCCCCGGCGATCCCCCTGCTGACCCCACGGATGTCCTGGTGTTCCTCGCTGACCACTTGGCCGAACAGCTGACCCTGCTAGATGCGGTGAG
ACCCTGACCTCTGGCCCCTATGCCCCCTGACCCCTTACTAACCTCTCCTTGACTCCAGATCCTTTCCTTGCTTCCACCCCTTCCTGATCCAGCTCCTAGC
CTCCTCCACCTACCATTTTGATTCTCCCCTTTTCCCTTTGGTCGTTACCCTTCAAACCCTGTGCCCCTCTGGTTCCTTGGCCACCTGAGATCCTCAGATC
CCTGATATTGGAAGGCTGACCTCACTTGACTATGAACTTTAACCTCTGACCTCTACCCTGCAGGAACTTTTTCTCAATTTGATCCCCTCTCAGTGCCTGG
GAGGCCTGTGGGGTCACAGAGACCGGCCAGGACATTCTCACCTCTGCCCATCTGTCCGAGCTACTGTCACACAGTTTAACAAGGTGGCAGGGGCAGTGGT
TAGTTCTGTCCTGGGGGCTACTTCCACTGGAGAGGGACCTGGGGAGGTGACCATACGGCCACTCCGTCCCCCACAGAGGGCCCGGCTCCTGGAGAAGTGG
ATCCGCGTGGCAGAGGAGTGCCGGCTGCTCCGAAACTTCTCTTCAGTTTATGCCGTGGTGTCAGCCCTGCAGTCCAGCCCCATCCACAGGCTTCGGGCAG
CCTGGGGGGAAGCAACCAGGGACAGCCTCAGAGTCTTTTCCAGCCTCTGCCAGATTTTCTCCGAGGAGGATAATTATTCCCAGAGTCGGGAGCTGCTCGT
GCAGGAGGTGAAGCTGCAGTCTCCTCTGGAGCCACACTCCAAGAAGGCCCCGAGGTCTGGCTCCCGGGGTGGGGGTGTGGTCCCATACCTTGGCACCTTC
CTGAAGGACCTTGTGATGCTGGATGCAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGACAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTG
AGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCA
GAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAG
GTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGCCCAGTACTGGGGGAGATGAGGCGCCTACAACTCCTGCTCCTCTGCTGACTC
GGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACCCCAGCCACCTCTC
CCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCCTCCGGGGGGACT
GGATATGGGGGAGAGGGATCTGGGCCAGGGGCCTCTGATTGCCGTATCATCCGAGTCCAGATGGAGTTGGGGGAAGATGGCAGTGTCTATAAGAGCATTT
TGGTGACAAGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCT
GCTACCAGGGGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGG
TCCTCTACTGCTACACCTGGCGTCACCAGTGGCCCGTCTGCCTCAGGAACTCCTCCGAGTGAGGGAGGAGGGGGCTCCTTTCCCAGGATCAAGGCCACAG
GGAGGAAGATTGCACGGGCACTGTTCTGAGGAGGAAGCCCCGTTGGCTTACAGAAGTCATGGTGTTCATACCAGATGTGGGTAGCCATCCTGAATGGTGG
CAATTATATCACATTGAGACAGAAATTCAGAAAGGGAGCCAGCCACCCTGGGGCAGTGAAGTGCCACAAAACGCATCAGTTTCTGATTCTTGGCCATATC
CTAACATGCAAGGGCCAAGCAAAGGCTTCAAGGCTCTGAG


Protein Sequence     (SEQ ID NO:300):
MLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTEAQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSV
GVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSHLSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGE
GSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELVQLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTAT
PGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF*



SNP Information


Context              (SEQ ID NO:1046):
CAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACT
K
ACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGC
Celera SNP ID:                hCV25651250
SNP Position Transcript:      2289
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,34)  african american(T,5|G,33)  total(T,5|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 58,(L,CTG) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,40)  african american(T,5|G,33)  total(T,5|G,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 58,(L,CTG) (L,CTT)



Context              (SEQ ID NO:1047):
AGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAG
R
GGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACT
Celera SNP ID:                hCV25651263
SNP Position Transcript:      2909
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:300, 265,(G,GGG) (E,GAG)



Context              (SEQ ID NO:1048):
CAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGACAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATG
Y
CGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGG
Celera SNP ID:                hCV25651251
SNP Position Transcript:      2226
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,0)  african american(T,37|C,1)  total(T,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 37,(C,TGT) (C,TGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 37,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1049):
GTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTAC
Y
GTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGGCTCCGAGCTGGCACTCTGGAGGCCCTGGTCA
Celera SNP ID:                hCV25651275
SNP Position Transcript:      731
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:300, None



Context              (SEQ ID NO:1050):
CCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACC
Y
CAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCC
Celera SNP ID:                hCV25651262
SNP Position Transcript:      2588
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:300, 158,(P,CCC) (L,CTC)



Context              (SEQ ID NO:1051):
TAGGGAGGGTAATCCCGTGGGGATGGAGT
R
ACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATGTCAAATTCTGCTCCTGCCTTCCCCCAGGGG
Celera SNP ID:                hCV15957522
SNP Position Transcript:      30
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:300, None



Context              (SEQ ID NO:1052):
ACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCC
W
CCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGC
Celera SNP ID:                hCV25651261
SNP Position Transcript:      2349
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 78,(P,CCT) (P,CCA)



Context              (SEQ ID NO:1053):
ATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACC
Y
GGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTG
Celera SNP ID:                hCV22275114
SNP Position Transcript:      2334
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,0)  african american(T,23|C,3)  total(T,55|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 73,(P,CCT) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,33|C,5)  total(T,73|C,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 73,(P,CCT) (P,CCC)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:300, 73,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1054):
TCACATTGAGACAGAAATTCAGAAAGGGAGCCAGCCACCCTGGGGCAGTGAAGTGCCACAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATG
Y
AAGGGCCAAGCAAAGGCTTCAAGGCTCTGAG
Celera SNP ID:                hCV8851460
SNP Position Transcript:      3309
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:300, None



Gene Number:                  19
Celera Gene:                  hCG17520 - 145000146854449
Celera Transcript:            hCT2286130 - 145000146854494
Public Transcript Accession:  NM_004761
Celera Protein:               hCP1854440 - 197000069367574
Public Protein Accession:     NP_004752
Gene Symbol:                  RGL2
Protein Name:                  ral guanine nucleotide dissociation stimulator-like 2
Celera Genomic Axis:          GA_x5YUV32W6W6(6271960..6291811)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:40):
TAGGGAGGGTAATCCCGTGGGGATGGAGTGACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATG
TCAAATTCTGCTCCTGCCTTCCCCCAGGGGCTGGAGACTGGAATCTTTATTCCAGTTCATTGCGGGTCGACGTGGTCTCCAGAATCCCCGAGTGTAGAGG
CGGAGGACAGTGGAGCTGGGGACTCGGGCGCCTGGGTCCTGGTCCCTGAGCGTCCAGCGCTCCCCTAGTCCGCGGCCCTGGCTCCTGTCCTCACTTCCTT
CCCCTTTTGGCTCCTGCTCTCGGAGCGGGCGGACGCGGGGGGGAGCGGAAAGGGCGGGAGGGCCCAGGAGCCCGGCGGGGGGGTTCAAGGGGGTACGGAA
AAGCCGGGGAGGGGACTCGGTCCGGGGCCGGAGACCGACGGCAACAGCGGCTCAGGACCCACGCTGCCCCCACCCCTCCCGAGCAGGCGCCCCCATGGCC
CGACCCCGCTGATTCCTTCACTCGGCCATGCTCCCGCGGCCCCTGCGGCTGCTTTTGGACACGAGCCCCCCCGGGGGAGTCGTACTGAGCAGCTTCCGAA
GCCGGGACCCCGAAGAGGGTGGGGGCCCAGGTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTG
GGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGG
CTCCGAGCTGGCACTCTGGAGGCCCTGGTCAGACACCTACTGGATACCCGGACATCAGGGACTGATGTGAGCTTCATGTCAGCCTTCCTGGCTACCCACC
GGGCCTTCACCTCCACGCCTGCCTTGCTAGGGCTTATGGCTGACAGGCTGGAAGCCCTTGAATCTCATCCTACCGACGAACTAGAGAGGACAACAGAGGT
AGCCATCTCTGTACTGTCAACCTGGCTGGCCTCTCACCCTGAGGATTTTGGCTCTGAGGCCAAGGGTCAGCTTGACCGGCTTGAGAGCTTCTTACTTCAG
ACAGGGTATGCAGCAGGGAAGGGTGTTGGGGGGGGCAGCGCTGACCTCATCCGCAATCTCCGGTCCCGGGTGGACCCCCAGGCCCCCGACCTTCCTAAGC
CCCTGGCCCTCCCCGGCGATCCCCCTGCTGACCCCACGGATGTCCTGGTGTTCCTCGCTGACCACTTGGCCGAACAGCTGACCCTGCTAGATGCGGAACT
TTTTCTCAATTTGATCCCCTCTCAGTGCCTGGGAGGCCTGTGGGGTCACAGAGACCGGCCAGGACATTCTCACCTCTGCCCATCTGTCCGAGCTACTGTC
ACACAGTTTAACAAGGTGGCAGGGGCAGTGGTTAGTTCTGTCCTGGGGGCTACTTCCACTGGAGAGGGACCTGGGGAGGTGACCATACGGCCACTCCGTC
CCCCACAGAGGGCCCGGCTCCTGGAGAAGTGGATCCGCGTGGCAGAGGAGTGCCGGCTGCTCCGAAACTTCTCTTCAGTTTATGCCGTGGTGTCAGCCCT
GCAGTCCAGCCCCATCCACAGGCTTCGGGCAGCCTGGGGGGAAGCAACCAGGGACAGCCTCAGAGTCTTTTCCAGCCTCTGCCAGATTTTCTCCGAGGAG
GATAATTATTCCCAGAGTCGGGAGCTGCTCGTGCAGGAGGTGAAGCTGCAGTCTCCTCTGGAGCCACACTCCAAGAAGGCCCCGAGGTCTGGCTCCCGGG
GTGGGGGTGTGGTCCCATACCTTGGCACCTTCCTGAAGGACCTTGTGATGCTGGATGCAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGA
CAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGG
CTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTC
GGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGCCCAGTACTGGGGGAGATGA
GGCGCCTACAACTCCTGCTCCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCC
CTGCACAGTCCAGCTGACCCCAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGA
GTGGGGGTGCAGAAGAGGCCTCCGGGGGGACTGGATATGGGGGAGAGGGATCTGGGCCAGGGGCCTCTGATTGCCGTATCATCCGAGTCCAGATGGAGTT
GGGGGAAGATGGCAGTGTCTATAAGAGCATTTTGGTGACAAGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCT
GCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAGGGGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTT
CACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACTGCTACACCTGGCGTCACCAGTGGCCCGTCTGCCTCAGGAACTCCTCCGAGTGAGGGAGG
AGGGGGCTCCTTTCCCAGGATCAAGGCCACAGGGAGGAAGATTGCACGGGCACTGTTCTGAGGAGGAAGCCCCGTTGGCTTACAGAAGTCATGGTGTTCA
TACCAGATGTGGGTAGCCATCCTGAATGGTGGCAATTATATCACATTGAGACAGAAATTCAGAAAGGGAGCCAGCCACCCTGGGGCAGTGAAGTGCCACA
AAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATGCAAGGGCCAAGCAAAGGCTTCAAGGCTCTGAG


Protein Sequence     (SEQ ID NO:301):
MLPRPLRLLLDTSPPGGVVLSSFRSRDPEEGGGPGGLVVGGGQEEEEEEEEEAPVSVWDEEEDGAVFTVTSRQYRPLDPLVPMPPPRSSRRLRAGTLEAL
VRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGV
GGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGA
VVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSREL
LVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTE
AQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSVGVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSH
LSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGEGSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELV
QLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTATPGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF*



SNP Information


Context              (SEQ ID NO:1055):
CAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACT
K
ACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGC
Celera SNP ID:                hCV25651250
SNP Position Transcript:      2021
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,34)  african american(T,5|G,33)  total(T,5|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 498,(L,CTG) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,40)  african american(T,5|G,33)  total(T,5|G,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 498,(L,CTG) (L,CTT)



Context              (SEQ ID NO:1056):
AGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAG
R
GGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACT
Celera SNP ID:                hCV25651263
SNP Position Transcript:      2641
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:301, 705,(G,GGG) (E,GAG)



Context              (SEQ ID NO:1057):
CAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGACAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATG
Y
CGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGG
Celera SNP ID:                hCV25651251
SNP Position Transcript:      1958
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,0)  african american(T,37|C,1)  total(T,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 477,(C,TGT) (C,TGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 477,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1058):
GTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTAC
Y
GTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGGCTCCGAGCTGGCACTCTGGAGGCCCTGGTCA
Celera SNP ID:                hCV25651275
SNP Position Transcript:      731
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 68,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1059):
CCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACC
Y
CAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCC
Celera SNP ID:                hCV25651262
SNP Position Transcript:      2320
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:301, 598,(P,CCC) (L,CTC)



Context              (SEQ ID NO:1060):
TAGGGAGGGTAATCCCGTGGGGATGGAGT
R
ACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATGTCAAATTCTGCTCCTGCCTTCCCCCAGGGG
Celera SNP ID:                hCV15957522
SNP Position Transcript:      30
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:301, None



Context              (SEQ ID NO:1061):
ACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCC
W
CCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGC
Celera SNP ID:                hCV25651261
SNP Position Transcript:      2081
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 518,(P,CCT) (P,CCA)



Context              (SEQ ID NO:1062):
ATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACC
Y
GGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTG
Celera SNP ID:                hCV22275114
SNP Position Transcript:      2066
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,0)  african american(T,23|C,3)  total(T,55|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 513,(P,CCT) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,33|C,5)  total(T,73|C,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 513,(P,CCT) (P,CCC)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:301, 513,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1063):
TCACATTGAGACAGAAATTCAGAAAGGGAGCCAGCCACCCTGGGGCAGTGAAGTGCCACAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATG
Y
AAGGGCCAAGCAAAGGCTTCAAGGCTCTGAG
Celera SNP ID:                hCV8851460
SNP Position Transcript:      3041
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:301, None



Gene Number:                  19
Celera Gene:                  hCG17520 - 145000146854449
Celera Transcript:            hCT2286131 - 145000146854517
Public Transcript Accession:
Celera Protein:               hCP1854436 - 197000069367570
Public Protein Accession:
Gene Symbol:                  RGL2
Protein Name:                  ral guanine nucleotide dissociation stimulator-like 2
Celera Genomic Axis:          GA_x5YUV32W6W6(6271960..6291811)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:41):
TCCTGGGTAGAGGCCGGGAAGCCACGGTTCTGGGACCTGGAGGAAAGATCCTAGGCCCCTTCGACTCCACCGGGGCCCTGAGGCGGCTGGGGTGGGGCTG
TCTGGGCCCCAGTGGGGGAGACCTGGGGTCACCAGCTCCCCCAACCCTTCCTCGCACTCGCTGGTACTATGCCCTGCCACCACAGGCCCCTGTGTCCGTC
TGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGAC
GGCTCCGAGCTGGCACTCTGGAGGCCCTGGTCAGACACCTACTGGATACCCGGACATCAGGGACTGATGTGAGCTTCATGTCAGCCTTCCTGGCTACCCA
CCGGGCCTTCACCTCCACGCCTGCCTTGCTAGGGCTTATGGCTGACAGGCTGGAAGCCCTTGAATCTCATCCTACCGACGAACTAGAGAGGACAACAGAG
GTAGCCATCTCTGTACTGTCAACCTGGCTGGCCTCTCACCCTGAGGATTTTGGCTCTGAGGCCAAGGGTCAGCTTGACCGGCTTGAGAGCTTCTTACTTC
AGACAGGGTATGCAGCAGGGAAGGGTGTTGGGGGGGGCAGCGCTGACCTCATCCGCAATCTCCGGTCCCGGGTGGACCCCCAGGCCCCCGACCTTCCTAA
GCCCCTGGCCCTCCCCGGCGATCCCCCTGCTGACCCCACGGATGTCCTGGTGTTCCTCGCTGACCACTTGGCCGAACAGCTGACCCTGCTAGATGCGGAA
CTTTTTCTCAATTTGATCCCCTCTCAGTGCCTGGGAGGCCTGTGGGGTCACAGAGACCGGCCAGGACATTCTCACCTCTGCCCATCTGTCCGAGCTACTG
TCACACAGTTTAACAAGGTGGCAGGGGCAGTGGTTAGTTCTGTCCTGGGGGCTACTTCCACTGGAGAGGGACCTGGGGAGGTGACCATACGGCCACTCCG
TCCCCCACAGAGGGCCCGGCTCCTGGAGAAGTGGATCCGCGTGGCAGAGGAGTGCCGGCTGCTCCGAAACTTCTCTTCAGTTTATGCCGTGGTGTCAGCC
CTGCAGTCCAGCCCCATCCACAGGCTTCGGGCAGCCTGGGGGGAAGCAACCAGGGACAGCCTCAGAGTCTTTTCCAGCCTCTGCCAGATTTTCTCCGAGG
AGGATAATTATTCCCAGAGTCGGGAGCTGCTCGTGCAGGAGGTGAAGCTGCAGTCTCCTCTGGAGCCACACTCCAAGAAGGCCCCGAGGTCTGGCTCCCG
GGGTGGGGGTGTGGTCCCATACCTTGGCACCTTCCTGAAGGACCTTGTGATGCTGGATGCAGCCTCCAAGGTGCAGTCCTTTCTGAGTTGCGACGGCTCC
AGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATC
CTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTT
GGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGCCCAGTACTGGGGGAGATGAGGCGCCTACAACTCCTGCTCCTCTGCTGACTCGGCTGGCCCAGCACA
TGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACCCCAGCCACCTCTCCCCACCAGCCTCCTC
CCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCCTCCGGGGGGACTGGATATGGGGGAGAG
GGATCTGGGCCAGGGGCCTCTGATTGCCGTATCATCCGAGTCCAGATGGAGTTGGGGGAAGATGGCAGTGTCTATAAGAGCATTTTGGTGACAAGCCAGG
ACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAGGGGAGCG
AGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACTGCTACA
CCTGGCGTCACCAGTGGCCCGTCTGAAGTGCCACTGGTTTACCAGACAGCTGAGAAATCCAGCCCTGTGGGAACTGGTGTCTTATAACCAAGTTGGATAC
CTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCACACAGGTAGTGCTGGAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATGCAAGGGCC
AAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAGAGGGGAATGGCAAAATGTAGGTCCTCGCAGGAGCTCTTCTTCCCACTCTGGGGGTTTCTATCACT
GTGACAACACTAAGATAATAAACCAAAACACTACCTGAATTCT


Protein Sequence     (SEQ ID NO:302):
MPPPRSSRRLRAGTLEALVRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQL
DRLESFLLQTGYAAGKGVGGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSH
LCPSVRATVTQFNKVAGAVVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFS
SLCQIFSEEDNYSQSRELLVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKVQSFLSCDGSRMNVVAITSNLTMISRGGYRGSGH*



SNP Information


Context              (SEQ ID NO:1064):
CAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACT
K
ACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGC
Celera SNP ID:                hCV25651250
SNP Position Transcript:      1474
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,34)  african american(T,5|G,33)  total(T,5|G,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:302, 400,(*,TGA) (L,TTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,40)  african american(T,5|G,33)  total(T,5|G,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:302, 400,(*,TGA) (L,TTA)



Context              (SEQ ID NO:1065):
GTGGTCCCATACCTTGGCACCTTCCTGAAGGACCTTGTGATGCTGGATGCAGCCTCCAAGGTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATG
Y
CGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGG
Celera SNP ID:                hCV25651251
SNP Position Transcript:      1411
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,0)  african american(T,37|C,1)  total(T,71|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:302, 379,(V,GTC) (A,GCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:302, 379,(V,GTC) (A,GCC)



Context              (SEQ ID NO:1066):
CAGCTCCCCCAACCCTTCCTCGCACTCGCTGGTACTATGCCCTGCCACCACAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTAC
Y
GTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGGCTCCGAGCTGGCACTCTGGAGGCCCTGGTCA
Celera SNP ID:                hCV25651275
SNP Position Transcript:      233
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1067):
ATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACC
Y
GGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTG
Celera SNP ID:                hCV22275114
SNP Position Transcript:      1519
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,0)  african american(T,23|C,3)  total(T,55|C,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,33|C,5)  total(T,73|C,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1068):
ACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCC
W
CCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGC
Celera SNP ID:                hCV25651261
SNP Position Transcript:      1534
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1069):
CCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACC
Y
CAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCC
Celera SNP ID:                hCV25651262
SNP Position Transcript:      1773
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1070):
AGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAG
R
GGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACT
Celera SNP ID:                hCV25651263
SNP Position Transcript:      2094
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1071):
GCTGAGAAATCCAGCCCTGTGGGAACTGGTGTCTTATAACCAAGTTGGATACCTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCACACAGGTAGTGCT
S
GAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATGCAAGGGCCAAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAGAGGGGAATGGCAAA
Celera SNP ID:                hCV29315597
SNP Position Transcript:      2349
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Context              (SEQ ID NO:1072):
TTGGATACCTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCACACAGGTAGTGCTGGAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATG
Y
AAGGGCCAAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAGAGGGGAATGGCAAAATGTAGGTCCTCGCAGGAGCTCTTCTTCCCACTCTGGGGGTTTC
Celera SNP ID:                hCV8851460
SNP Position Transcript:      2393
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:302, None



Gene Number:                  19
Celera Gene:                  hCG17520 - 145000146854449
Celera Transcript:            hCT8571 - 145000146854450
Public Transcript Accession:  NM_004761
Celera Protein:               hCP37463 - 197000069367572
Public Protein Accession:     NP_004752
Gene Symbol:                  RGL2
Protein Name:                  ral guanine nucleotide dissociation stimulator-like 2
Celera Genomic Axis:          GA_x5YUV32W6W6(6271960..6291811)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:42):
TAGGGAGGGTAATCCCGTGGGGATGGAGTGACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATG
TCAAATTCTGCTCCTGCCTTCCCCCAGGGGCTGGAGACTGGAATCTTTATTCCAGTTCATTGCGGGTCGACGTGGTCTCCAGAATCCCCGAGTGTAGAGG
CGGAGGACAGTGGAGCTGGGGACTCGGGCGCCTGGGTCCTGGTCCCTGAGCGTCCAGCGCTCCCCTAGTCCGCGGCCCTGGCTCCTGTCCTCACTTCCTT
CCCCTTTTGGCTCCTGCTCTCGGAGCGGGCGGACGCGGGGGGGAGCGGAAAGGGCGGGAGGGCCCAGGAGCCCGGCGGGGGGGTTCAAGGGGGTACGGAA
AAGCCGGGGAGGGGACTCGGTCCGGGGCCGGAGACCGACGGCAACAGCGGCTCAGGACCCACGCTGCCCCCACCCCTCCCGAGCAGGCGCCCCCATGGCC
CGACCCCGCTGATTCCTTCACTCGGCCATGCTCCCGCGGCCCCTGCGGCTGCTTTTGGACACGAGCCCCCCCGGGGGAGTCGTACTGAGCAGCTTCCGAA
GCCGGGACCCCGAAGAGGGTGGGGGCCCAGGTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTG
GGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGG
CTCCGAGCTGGCACTCTGGAGGCCCTGGTCAGACACCTACTGGATACCCGGACATCAGGGACTGATGTGAGCTTCATGTCAGCCTTCCTGGCTACCCACC
GGGCCTTCACCTCCACGCCTGCCTTGCTAGGGCTTATGGCTGACAGGCTGGAAGCCCTTGAATCTCATCCTACCGACGAACTAGAGAGGACAACAGAGGT
AGCCATCTCTGTACTGTCAACCTGGCTGGCCTCTCACCCTGAGGATTTTGGCTCTGAGGCCAAGGGTCAGCTTGACCGGCTTGAGAGCTTCTTACTTCAG
ACAGGGTATGCAGCAGGGAAGGGTGTTGGGGGGGGCAGCGCTGACCTCATCCGCAATCTCCGGTCCCGGGTGGACCCCCAGGCCCCCGACCTTCCTAAGC
CCCTGGCCCTCCCCGGCGATCCCCCTGCTGACCCCACGGATGTCCTGGTGTTCCTCGCTGACCACTTGGCCGAACAGCTGACCCTGCTAGATGCGGAACT
TTTTCTCAATTTGATCCCCTCTCAGTGCCTGGGAGGCCTGTGGGGTCACAGAGACCGGCCAGGACATTCTCACCTCTGCCCATCTGTCCGAGCTACTGTC
ACACAGTTTAACAAGGTGGCAGGGGCAGTGGTTAGTTCTGTCCTGGGGGCTACTTCCACTGGAGAGGGACCTGGGGAGGTGACCATACGGCCACTCCGTC
CCCCACAGAGGGCCCGGCTCCTGGAGAAGTGGATCCGCGTGGCAGAGGAGTGCCGGCTGCTCCGAAACTTCTCTTCAGTTTATGCCGTGGTGTCAGCCCT
GCAGTCCAGCCCCATCCACAGGCTTCGGGCAGCCTGGGGGGAAGCAACCAGGGACAGCCTCAGAGTCTTTTCCAGCCTCTGCCAGATTTTCTCCGAGGAG
GATAATTATTCCCAGAGTCGGGAGCTGCTCGTGCAGGAGGTGAAGCTGCAGTCTCCTCTGGAGCCACACTCCAAGAAGGCCCCGAGGTCTGGCTCCCGGG
GTGGGGGTGTGGTCCCATACCTTGGCACCTTCCTGAAGGACCTTGTGATGCTGGATGCAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGA
CAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGG
CTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTC
GGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGCCCAGTACTGGGGGAGATGA
GGCGCCTACAACTCCTGCTCCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCC
CTGCACAGTCCAGCTGACCCCAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGA
GTGGGGGTGCAGAAGAGGCCTCCGGGGGGACTGGATATGGGGGAGAGGGATCTGGGCCAGGGGCCTCTGATTGCCGTATCATCCGAGTCCAGATGGAGTT
GGGGGAAGATGGCAGTGTCTATAAGAGCATTTTGGTGACAAGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCT
GCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAGGGGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTT
CACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACTGCTACACCTGGCGTCACCAGTGGCCCGTCTGCCTCAGGAACTCCTCCGAGTGAGGGAGG
AGGGGGCTCCTTTCCCAGGATCAAGGCCACAGGGAGGAAGATTGCACGGGCACTGTTCTGAGGAGGAAGCCCCGTTGGCTTACAGAAGTCATGGTGTTCA
TACCAGATGTGGGTAGCCATCCTGAATGGTGGCAATTATATCACATTGAGACAGAAATTCAGAAAGGGAGCCAGCCACCCTGGGGCAGTGAAGTGCCACT
GGTTTACCAGACAGCTGAGAAATCCAGCCCTGTGGGAACTGGTGTCTTATAACCAAGTTGGATACCTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCA
CACAGGTAGTGCTGGAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATGCAAGGGCCAAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAG
AGGGGAATGGCAAAATGTAGGTCCTCGCAGGAGCTCTTCTTCCCACTCTGGGGGTTTCTATCACTGTGACAACACTAAGATAATAAACCAAAACACTACC
TGAATTCTACTCCCCTGTCCTTGCAGTACATATGAACTGGCTGCTATGAGTGGGGGTGGGGAATTGGCTGAAGGTAGATGCCATGGAACAGGAAGGGGCA
CAATGTTTTCTGTCCCCATGAACAGAGCAAAAAGTGAGGTATTGGTGAAAAAAGTTTC


Protein Sequence     (SEQ ID NO:303):
MLPRPLRLLLDTSPPGGVVLSSFRSRDPEEGGGPGGLVVGGGQEEEEEEEEEAPVSVWDEEEDGAVFTVTSRQYRPLDPLVPMPPPRSSRRLRAGTLEAL
VRHLLDTRTSGTDVSFMSAFLATHRAFTSTPALLGLMADRLEALESHPTDELERTTEVAISVLSTWLASHPEDFGSEAKGQLDRLESFLLQTGYAAGKGV
GGGSADLIRNLRSRVDPQAPDLPKPLALPGDPPADPTDVLVFLADHLAEQLTLLDAELFLNLIPSQCLGGLWGHRDRPGHSHLCPSVRATVTQFNKVAGA
VVSSVLGATSTGEGPGEVTIRPLRPPQRARLLEKWIRVAEECRLLRNFSSVYAVVSALQSSPIHRLRAAWGEATRDSLRVFSSLCQIFSEEDNYSQSREL
LVQEVKLQSPLEPHSKKAPRSGSRGGGVVPYLGTFLKDLVMLDAASKDELENGYINFDKRRKEFAVLSELRRLQNECRGYNLQPDHDIQRWLQGLRPLTE
AQSHRVSCEVEPPGSSDPPAPRVLRPTLVISQWTEVLGSVGVPTPLVSCDRPSTGGDEAPTTPAPLLTRLAQHMKWPSVSSLDSALESSPSLHSPADPSH
LSPPASSPRPSRGHRRSASCGSPLSGGAEEASGGTGYGGEGSGPGASDCRIIRVQMELGEDGSVYKSILVTSQDKAPSVISRVLKKNNRDSAVASEYELV
QLLPGERELTIPASANVFYAMDGASHDFLLRQRRRSSTATPGVTSGPSASGTPPSEGGGGSFPRIKATGRKIARALF*



SNP Information


Context              (SEQ ID NO:1073):
CAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATGTCGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACT
K
ACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGC
Celera SNP ID:                hCV25651250
SNP Position Transcript:      2021
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,34)  african american(T,5|G,33)  total(T,5|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 498,(L,CTG) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,40)  african american(T,5|G,33)  total(T,5|G,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 498,(L,CTG) (L,CTT)



Context              (SEQ ID NO:1074):
AGCCAGGACAAGGCTCCAAGTGTCATCAGTCGTGTCCTTAAGAAAAACAATCGTGACTCTGCAGTGGCTTCAGAGTATGAGCTGGTACAGCTGCTACCAG
R
GGAGCGAGAGCTGACTATCCCAGCCTCGGCTAATGTATTCTACGCCATGGATGGAGCTTCACACGATTTCCTCCTGCGGCAGCGGCGAAGGTCCTCTACT
Celera SNP ID:                hCV25651263
SNP Position Transcript:      2641
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:303, 705,(G,GGG) (E,GAG)



Context              (SEQ ID NO:1075):
CAGCCTCCAAGGATGAGTTGGAGAATGGATACATCAATTTTGACAAGCGGAGGAAGGAGTTTGCAGTCCTTTCTGAGTTGCGACGGCTCCAGAATGAATG
Y
CGTGGCTATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGG
Celera SNP ID:                hCV25651251
SNP Position Transcript:      1958
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,0)  african american(T,37|C,1)  total(T,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 477,(C,TGT) (C,TGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 477,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1076):
GTGGCCTGGTCGTGGGCGGGGGGCAGGAGGAAGAGGAGGAGGAAGAAGAAGAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTAC
Y
GTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTCCCTATGCCTCCCCCACGTTCCTCCCGACGGCTCCGAGCTGGCACTCTGGAGGCCCTGGTCA
Celera SNP ID:                hCV25651275
SNP Position Transcript:      731
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 68,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1077):
CCTCTGCTGACTCGGCTGGCCCAGCACATGAAGTGGCCATCTGTCTCGTCACTAGACTCTGCCTTGGAAAGCAGTCCATCCCTGCACAGTCCAGCTGACC
Y
CAGCCACCTCTCCCCACCAGCCTCCTCCCCTAGGCCTTCTCGAGGTCACCGCCGCTCAGCCTCCTGTGGCTCCCCGCTGAGTGGGGGTGCAGAAGAGGCC
Celera SNP ID:                hCV25651262
SNP Position Transcript:      2320
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:303, 598,(P,CCC) (L,CTC)



Context              (SEQ ID NO:1078):
TAGGGAGGGTAATCCCGTGGGGATGGAGT
R
ACCGGCTCTCTCTCCGCCTGAAACGCTTCCCGCGGGAGTTTTAGCCGTGTTATTGTTGGGGAAGGGAATGTCAAATTCTGCTCCTGCCTTCCCCCAGGGG
Celera SNP ID:                hCV15957522
SNP Position Transcript:      30
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:303, None



Context              (SEQ ID NO:1079):
ACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACCTGGTTCCAGTGACCC
W
CCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTGTGTCCTGTGACCGGC
Celera SNP ID:                hCV25651261
SNP Position Transcript:      2081
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 518,(P,CCT) (P,CCA)



Context              (SEQ ID NO:1080):
ATAACCTCCAACCTGACCATGATATCCAGAGGTGGCTACAGGGGCTCCGGCCACTGACAGAGGCTCAGAGCCATCGTGTATCCTGTGAGGTGGAGCCACC
Y
GGTTCCAGTGACCCTCCTGCCCCACGGGTGCTTCGGCCAACATTGGTCATCTCGCAGTGGACAGAGGTTTTGGGCTCTGTTGGGGTCCCTACCCCGCTTG
Celera SNP ID:                hCV22275114
SNP Position Transcript:      2066
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,32|C,0)  african american(T,23|C,3)  total(T,55|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 513,(P,CCT) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,33|C,5)  total(T,73|C,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 513,(P,CCT) (P,CCC)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:303, 513,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1081):
GCTGAGAAATCCAGCCCTGTGGGAACTGGTGTCTTATAACCAAGTTGGATACCTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCACACAGGTAGTGCT
S
GAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATGCAAGGGCCAAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAGAGGGGAATGGCAAA
Celera SNP ID:                hCV29315597
SNP Position Transcript:      3114
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:303, None



Context              (SEQ ID NO:1082):
TTGGATACCTGTGTATAGCTTCCCACCTTCCATGAGTGCAGCACACAGGTAGTGCTGGAAAAACGCATCAGTTTCTGATTCTTGGCCATATCCTAACATG
Y
AAGGGCCAAGCAAAGGCTTCAAGGCTCTGAGCCCCAGGGCAGAGGGGAATGGCAAAATGTAGGTCCTCGCAGGAGCTCTTCTTCCCACTCTGGGGGTTTC
Celera SNP ID:                hCV8851460
SNP Position Transcript:      3158
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:303, None



Gene Number:                  20
Celera Gene:                  hCG1773848 - 206000046081808
Celera Transcript:            hCT1812470 - 206000046081832
Public Transcript Accession:  NM_018048
Celera Protein:               hCP1710648 - 206000046081803
Public Protein Accession:     NP_060518
Gene Symbol:                  FLJ10292
Protein Name:                  hypothetical protein FLJ10292
Celera Genomic Axis:          GA_x5YUV32W45C(1013833..1035233)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:43):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAGGGCACAAG
GGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCATGATCAGAA
AAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGCCTCCCCCTGA
TAGGGTTGGCCGACAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGATGTAAATCAGTCAAAG
GATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAA
TTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGGGGTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAA
AAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCACATGGGTTGGACAGTCCCCACACACATTAAA
TTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGT
CTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATG
AAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAA
CCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTG
ATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACA
AACAGATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGA
TTTCCTCTTTCATTACTTTTAGTAACCATGTTCCTTGTTTCCTTTTATTCTTCCATCTGAAGCCCCACTCTTAAAAAGTTGCACTGTTCCAGTAGTTATA
ATCCACTTGCCCTAGGAACAAGTTAGCACTGAATTTTGGGTGGAATAATTAGTTTCTGAAGGCTTGCCAGGACTCCTGAGCAGGTAGGCTCTAGAGTCGG
GCAGTCCAATAACTTTTTTGCAATAATGGAAACGTTCTATGTGCAGTCCAATAGGGTAGCAACTGGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCC
TTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACATTAAAAACTCTTGAGAACTATAAAGTGAACACCTATA
TGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCC
AATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAGATAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGC
TTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTCAAAATGCATGCCCATTGTCTTCAGGTTTGCCATGGAAAGTCAAATGATTTCC
ACTTCATTATGCAAGTACGCTATCATCTTCAGGTCTTTTGTATGTAAAATGTTTCTGTTCCAGTTGTAGACCTTGATGATTGTGCAGTATGAAATCGTAT
TGTAATTTTCTTGCATTTAGATGTCAACCTCAGAAACAGGAACAATCGTCTTTTGAACTTCCAGTAGGCCCACAGTTGTTGGTTGTTCCTCAAAACAGGT
TGTGGCTCCTGTTGAATAAGATGATCCATTAAAAACTGAACAAGGTTGAGGAGAAATAGTGCTTACGTTGAAAAATCTTTAAGTCTTTGTCCCCGTTCTC
TAACTTCCTTACGTTTTCGTTTATTTAGCTCTATCCCCACTATCTACTAGAATTTCTCATATTTAAACCAAGATGGGAGACTAGGTCATTAGGAAAATAT
TACCGTCTACAATTTTCTTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGT
TTTATATGAAACTAGATTTTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT


Protein Sequence     (SEQ ID NO:304):
MAVASDFYLRYYVGHKGKFGHEFLEFEFRPDGKLRYANNSNYKNDVMIRKEAYVHKSVMEELKRIIDDSEITKEDDALWPPPDRVGRQELEIVIGDEHIS
FTTSKIGSLIDVNQSKDPEGLRVFYYLVQDLKCLVFSLIGLHFKIKPI*



SNP Information


Context              (SEQ ID NO:1083):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCG
S
TACTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAA
Celera SNP ID:                hCV25649566
SNP Position Transcript:      82
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,37)  total(G,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:304, 10,(R,CGC) (R,CGG)



Context              (SEQ ID NO:1084):
TGTGGCCTCCCCCTGATAGGGTTGGCCGACAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGA
Y
GTAAATCAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGA
Celera SNP ID:                hCV25649554
SNP Position Transcript:      385
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:304, 111,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1085):
TAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGT
S
ATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGC
Celera SNP ID:                hCV26575150
SNP Position Transcript:      190
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:304, 46,(V,GTC) (V,GTG)



Context              (SEQ ID NO:1086):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTA
R
GGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCAT
Celera SNP ID:                hDV69171531
SNP Position Transcript:      92
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:304, 14,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1087):
AATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGG
R
GTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAA
Celera SNP ID:                hCV29884467
SNP Position Transcript:      547
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1088):
GGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCA
Y
ATGGGTTGGACAGTCCCCACACACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAG
Celera SNP ID:                hCV1666341
SNP Position Transcript:      670
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1089):
AAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATA
Y
ATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGG
Celera SNP ID:                hCV1666342
SNP Position Transcript:      845
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1090):
TAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGT
Y
CCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACA
Celera SNP ID:                hCV1666343
SNP Position Transcript:      920
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,7|T,2) ; no_pop(C,-|T,-) ; no_pop(C,93|T,44
7)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1091):
AGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTT
T
ACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGT
Celera SNP ID:                hCV26575131
SNP Position Transcript:      986
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,6|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1092):
TGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTA
Y
AAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGT
Celera SNP ID:                hCV1666345
SNP Position Transcript:      1039
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1093):
TGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACAAACA
K
ATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGATTTCC
Celera SNP ID:                hCV1666346
SNP Position Transcript:      1205
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,4|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1094):
GGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACAT
W
AAAAACTCTTGAGAACTATAAAGTGAACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAA
Celera SNP ID:                hCV3061786
SNP Position Transcript:      1665
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,6) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1095):
TATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAG
R
TAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTC
Celera SNP ID:                hCV1666347
SNP Position Transcript:      1848
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,5) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Context              (SEQ ID NO:1096):
TTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGTTTTATATGAAACTAGAT
W
TTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT
Celera SNP ID:                hCV8905022
SNP Position Transcript:      2518
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1135|A,339) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:304, None



Gene Number:                  20
Celera Gene:                  hCG1773848 - 206000046081808
Celera Transcript:            hCT1950856 - 206000046081809
Public Transcript Accession:  NM_018048
Celera Protein:               hCP1764731 - 206000046081797
Public Protein Accession:     NP_060518
Gene Symbol:                  FLJ10292
Protein Name:                  hypothetical protein FLJ10292
Celera Genomic Axis:          GA_x5YUV32W45C(1013833..1035233)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:44):
CACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAG
GGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCAT
GATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGCCT
CCCCCTGATAGGGTTGGCCGACAGAATAAATGATGTTTCTCAGGCTTCTGAAGAACTCTGAAGGCCTAATTTCACTCTGTAAAAAGAAAGTTTGGTTTCT
GAATTGGGTCTTTTCAACTCTTGGAGAAATTCCTTCAACAACCCCTGGAAGGAAGAAACATTTAATTTCACTTTTGTATATCCCTGAGGATTGTACTTTG
TATCACCTTCTTTGAATAGAAGAAAATGTGGAGAAATCTAACACATGCTGACACTCTGTAGGAGTAACTTAAGTCTTCTGCTTAAAGAAGCATTATTTAG
AAAAGCAAAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGATGTAAATCAGTCAAAGGATCCT
GAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAATTGTAT
GTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGGGGTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTT
GTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCACATGGGTTGGACAGTCCCCACACACATTAAATTCTGT
AAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGTCTCTAA
TTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGC
AAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTC
AGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTGATTATG
TCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACAAACAGA
TATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGATTTCCT
CTTTCATTACTTTTAGTAACCATGTTCCTTGTTTCCTTTTATTCTTCCATCTGAAGCCCCACTCTTAAAAAGTTGCACTGTTCCAGTAGTTATAATCCAC
TTGCCCTAGGAACAAGTTAGCACTGAATTTTGGGTGGAATAATTAGTTTCTGAAGGCTTGCCAGGACTCCTGAGCAGGTAGGCTCTAGAGTCGGGCAGTC
CAATAACTTTTTTGCAATAATGGAAACGTTCTATGTGCAGTCCAATAGGGTAGCAACTGGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCCTTGTAT
AACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACATTAAAAACTCTTGAGAACTATAAAGTGAACACCTATATGCCTA
CCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCCAATAAA
CTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAGATAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGCTTGGTA
ACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTCAAAATGCATGCCCATTGTCTTCAGGTTTGCCATGGAAAGTCAAATGATTTCCACTTCA
TTATGCAAGTACGCTATCATCTTCAGGTCTTTTGTATGTAAAATGTTTCTGTTCCAGTTGTAGACCTTGATGATTGTGCAGTATGAAATCGTATTGTAAT
TTTCTTGCATTTAGATGTCAACCTCAGAAACAGGAACAATCGTCTTTTGAACTTCCAGTAGGCCCACAGTTGTTGGTTGTTCCTCAAAACAGGTTGTGGC
TCCTGTTGAATAAGATGATCCATTAAAAACTGAACAAGGTTGAGGAGAAATAGTGCTTACGTTGAAAAATCTTTAAGTCTTTGTCCCCGTTCTCTAACTT
CCTTACGTTTTCGTTTATTTAGCTCTATCCCCACTATCTACTAGAATTTCTCATATTTAAACCAAGATGGGAGACTAGGTCATTAGGAAAATATTACCGT
CTACAATTTTCTTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGTTTTATA
TGAAACTAGATTTTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT


Protein Sequence     (SEQ ID NO:305):
MLTLCRSNLSLLLKEALFRKAKELEIVIGDEHISFTTSKIGSLIDVNQSKDPEGLRVFYYLVQDLKCLVFSLIGLHFKIKPI*


SNP Information


Context              (SEQ ID NO:1097):
CACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCG
S
TACTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAA
Celera SNP ID:                hCV25649566
SNP Position Transcript:      90
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,37)  total(G,1|C,77)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1098):
C
M
CTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAGGG
Celera SNP ID:                hCV31376962
SNP Position Transcript:      2
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1099):
TGCTTAAAGAAGCATTATTTAGAAAAGCAAAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGA
Y
GTAAATCAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGA
Celera SNP ID:                hCV25649554
SNP Position Transcript:      679
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:305, 45,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1100):
GGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCA
S
GATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGCCT
Celera SNP ID:                hCV26575150
SNP Position Transcript:      200
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1101):
TAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGT
S
ATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGC
Celera SNP ID:                hCV26575150
SNP Position Transcript:      198
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1102):
CACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTA
R
GGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCAT
Celera SNP ID:                hDV69171531
SNP Position Transcript:      100
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1103):
AATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGG
R
GTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAA
Celera SNP ID:                hCV29884467
SNP Position Transcript:      841
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1104):
GGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCA
Y
ATGGGTTGGACAGTCCCCACACACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAG
Celera SNP ID:                hCV1666341
SNP Position Transcript:      964
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1105):
AAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATA
Y
ATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGG
Celera SNP ID:                hCV1666342
SNP Position Transcript:      1139
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1106):
TAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGT
Y
CCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACA
Celera SNP ID:                hCV1666343
SNP Position Transcript:      1214
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,7|T,2) ; no_pop(C,-|T,-) ; no_pop(C,93|T,44
7)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1107):
AGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTT
T
ACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGT
Celera SNP ID:                hCV26575131
SNP Position Transcript:      1280
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,6|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1108):
TGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTA
Y
AAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGT
Celera SNP ID:                hCV1666345
SNP Position Transcript:      1333
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1109):
TGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACAAACA
K
ATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGATTTCC
Celera SNP ID:                hCV1666346
SNP Position Transcript:      1499
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,4|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1110):
GGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACAT
W
AAAAACTCTTGAGAACTATAAAGTGAACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAA
Celera SNP ID:                hCV3061786
SNP Position Transcript:      1959
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,6) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1111):
TATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAG
R
TAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTC
Celera SNP ID:                hCV1666347
SNP Position Transcript:      2142
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,5) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Context              (SEQ ID NO:1112):
TTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGTTTTATATGAAACTAGAT
W
TTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT
Celera SNP ID:                hCV8905022
SNP Position Transcript:      2812
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1135|A,339) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:305, None



Gene Number:                  20
Celera Gene:                  hCG1773848 - 206000046081808
Celera Transcript:            hCT2349784 - 206000046081824
Public Transcript Accession:  NM_018048
Celera Protein:               hCP1915034 - 206000046081795
Public Protein Accession:     NP_060518
Gene Symbol:                  FLJ10292
Protein Name:                  hypothetical protein FLJ10292
Celera Genomic Axis:          GA_x5YUV32W45C(1013833..1035233)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:45):
GATGACGTCACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTA
CTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAAT
GATGTCATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTT
TGTGGCCTCCCCCTGATAGGGTTGGCCGACAGGTTTGTATTTAGTGATTCTTTAAGTGTATAAATATTAAAAATTGATAATACTATTTTGTTTCCCGTTA
TTTATTTGGAATGAGTCTAAGTTGATTCTTTGGCTTTCTATTTAATAGGCACCTGGTAAATTCTCTTTAATTTTATCTCTTAGTTCTGTTTTTCTGTGCT
ACCTCCTAGTAGTGAAGGAGTCAGTGCATAGCTCTAAATTTAGACATCTTTCTCTGTAGTCACCCCAGCCAACGTTAGGATGTTTTCACAATGCAGTGTT
ATGAATAATTTCTGTTGTGTGTTAATCACTTTTATTAAGAATATGACTATGTAAAATTTATTTTTGCCAAATCATAACTTCTAAAATTCTTATTTGCATC
CCTATACCCCAGAGAGAAACTTGATTGGTGGTTTCTTTGTTAAAACTGATGATTGCATTTCCCTCTCATATTCCTTCAGAATAAATGATGTTTCTCAGGC
TTCTGAAGAACTCTGAAGGCCTAATTTCACTCTGTAAAAAGAAAGTTTGGTTTCTGAATTGGGTCTTTTCAACTCTTGGAGAAATTCCTTCAACAACCCC
TGGAAGGAAGAAACATTTAATTTCACTTTTGTATATCCCTGAGGATTGTACTTTGTATCACCTTCTTTGAATAGAAGAAAATGTGGAGAAATCTAACACA
TGCTGACACTCTGTAGGAGTAACTTAAGTCTTCTGCTTAAAGAAGCATTATTTAGAAAAGCAAAGGTAATAGTTAACAGTATTTATTTTAAGCATCGTAT
CACTTTTAAAAAGTAAATTTAGGCCTCAGTTTGTTTTATGCAGATACACATATGTACTAAAAAGCAAACCACAGCAGCTAACCTTTTATATCATTTAGAC
TCAGGGAGAGCCTAGTATTTTATCTATTCACTTAAGGATGTGTTCATGGGTTTTGGTTAGTGGGGAGGAGTAGGCATGCTTCAGAAATTGCCTTTTGTAT
CAAGTCAAAGGTTTTATGGCTGTTAGAGCATCTTAGCTAATTCTCCATTCTGTGTGTGTCATAAACTGCATAATTAGGCCTCTGATTAAATAAATAGCTA
GGATTGTCTTCAATAGTGTCTGTTAACTTGAAGATTCATTACAGATATAGCTTTTTAATTATTGGTTTTAGGCCTGCAGATAAACAATATAGGGAAAAAT
CTATACAGTAATTACAGCACACTAGGAACATCTACATTAGGTTGGTTTTTTTTTTTTTTTTTTACTAGTTCTTAATTTTAGTTATTTTGTGGAGTATTAG
TTTTGAAGTCTTACCATCTTGGGATCAAATATAAGTACCATCATTATTAGTGGTTATAAATATCAACAAGTATTTTCTTCTGCTCTATGAGTTTTGGATT
ACACATTTGTAAAATAGGTTAGTAAGGTTATTTTCAAGATTACAGAGAGTACAAAGTCCCTACCACTAGGGCCTGACATACAGTAGGTGCTAAAGTGGTG
GTGGTTATTAATATTACACATTTTATTTGTAGAATCTTCCAGAAAGAAAAAATGTGTATTTATCATATTAAAAATGGTCTTATACTCCAATCATTTTTAC
AACATGTGCTTCAAAGTGATGTCTTTAGTTTTTACTGACATTGTAAGAAATATTTCTTTGTCATTTTGTTTCATAGTGTCTTCTTTATGTCTCTGGAAAG
CAATTCTTTGTTGGTCCTAAACTTGGGGGTAGTGCGCGTGAGCAGTCTTTATTTTAAGGATATAGTTTATATCTAAGAAACCATGTTTCTTTCCCCCTCG
CCCCCCACTCCCTCTGTTGGCTGCTAGAAAACTTGCAACTAAAATTGGGATCTGCTTGTAGCAAGAATACAGATACCTCTGGGATAGATTTTTATATTAA
CTACATTTTTCTGCTATATTTTTTAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGATGTAAA
TCAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAA
CCAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGGGGTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAG
CAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCACATGGGTTGGACAGTCCCCAC
ACACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAG
GAGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATT
CCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAG
TTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGG
CATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAA
CATTTAGACAAACAGATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCT
TTCTGATAGATTTCCTCTTTCATTACTTTTAGTAACCATGTTCCTTGTTTCCTTTTATTCTTCCATCTGAAGCCCCACTCTTAAAAAGTTGCACTGTTCC
AGTAGTTATAATCCACTTGCCCTAGGAACAAGTTAGCACTGAATTTTGGGTGGAATAATTAGTTTCTGAAGGCTTGCCAGGACTCCTGAGCAGGTAGGCT
CTAGAGTCGGGCAGTCCAATAACTTTTTTGCAATAATGGAAACGTTCTATGTGCAGTCCAATAGGGTAGCAACTGGCCAAATGAGGCCTACTGATTACTT
GAGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACATTAAAAACTCTTGAGAACTATAAAGTG
AACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGT
AATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAGATAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCT
AGAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTCAAAATGCATGCCCATTGTCTTCAGGTTTGCCATGGAAAGTCA
AATGATTTCCACTTCATTATGCAAGTACGCTATCATCTTCAGGTCTTTTGTATGTAAAATGTTTCTGTTCCAGTTGTAGACCTTGATGATTGTGCAGTAT
GAAATCGTATTGTAATTTTCTTGCATTTAGATGTCAACCTCAGAAACAGGAACAATCGTCTTTTGAACTTCCAGTAGGCCCACAGTTGTTGGTTGTTCCT
CAAAACAGGTTGTGGCTCCTGTTGAATAAGATGATCCATTAAAAACTGAACAAGGTTGAGGAGAAATAGTGCTTACGTTGAAAAATCTTTAAGTCTTTGT
CCCCGTTCTCTAACTTCCTTACGTTTTCGTTTATTTAGCTCTATCCCCACTATCTACTAGAATTTCTCATATTTAAACCAAGATGGGAGACTAGGTCATT
AGGAAAATATTACCGTCTACAATTTTCTTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTA
TAATACTAGTTTTATATGAAACTAGATTTTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT


Protein Sequence     (SEQ ID NO:306):
MAVASDFYLRYYVGHKGKFGHEFLEFEFRPDGKLRYANNSNYKNDVMIRKEAYVHKSVMEELKRIIDDSEITKEDDALWPPPDRVGRQVCI*


SNP Information


Context              (SEQ ID NO:1113):
GATGACGTCACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCG
S
TACTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAA
Celera SNP ID:                hCV25649566
SNP Position Transcript:      98
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,37)  total(G,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:306, 10,(R,CGC) (R,CGG)



Context              (SEQ ID NO:1114):
GATGACGTC
M
CTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAGGG
Celera SNP ID:                hCV31376962
SNP Position Transcript:      10
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1115):
TAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGT
S
ATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGC
Celera SNP ID:                hCV26575150
SNP Position Transcript:      206
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:306, 46,(V,GTC) (V,GTG)



Context              (SEQ ID NO:1116):
TCACTGCAAGGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTA
R
GGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCAT
Celera SNP ID:                hDV69171531
SNP Position Transcript:      108
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:306, 14,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1117):
AGTAGTGAAGGAGTCAGTGCATAGCTCTAAATTTAGACATCTTTCTCTGTAGTCACCCCAGCCAACGTTAGGATGTTTTCACAATGCAGTGTTATGAATA
R
TTTCTGTTGTGTGTTAATCACTTTTATTAAGAATATGACTATGTAAAATTTATTTTTGCCAAATCATAACTTCTAAAATTCTTATTTGCATCCCTATACC
Celera SNP ID:                hCV29172850
SNP Position Transcript:      608
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1118):
GCAGTGTTATGAATAATTTCTGTTGTGTGTTAATCACTTTTATTAAGAATATGACTATGTAAAATTTATTTTTGCCAAATCATAACTTCTAAAATTCTTA
Y
TTGCATCCCTATACCCCAGAGAGAAACTTGATTGGTGGTTTCTTTGTTAAAACTGATGATTGCATTTCCCTCTCATATTCCTTCAGAATAAATGATGTTT
Celera SNP ID:                hCV1666340
SNP Position Transcript:      693
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1119):
GGATCAAATATAAGTACCATCATTATTAGTGGTTATAAATATCAACAAGTATTTTCTTCTGCTCTATGAGTTTTGGATTACACATTTGTAAAATAGGTTA
R
TAAGGTTATTTTCAAGATTACAGAGAGTACAAAGTCCCTACCACTAGGGCCTGACATACAGTAGGTGCTAAAGTGGTGGTGGTTATTAATATTACACATT
Celera SNP ID:                hCV3061777
SNP Position Transcript:      1722
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1120):
CTTTATGTCTCTGGAAAGCAATTCTTTGTTGGTCCTAAACTTGGGGGTAGTGCGCGTGAGCAGTCTTTATTTTAAGGATATAGTTTATATCTAAGAAACC
R
TGTTTCTTTCCCCCTCGCCCCCCACTCCCTCTGTTGGCTGCTAGAAAACTTGCAACTAAAATTGGGATCTGCTTGTAGCAAGAATACAGATACCTCTGGG
Celera SNP ID:                hCV29172849
SNP Position Transcript:      2083
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1121):
GTGAGCAGTCTTTATTTTAAGGATATAGTTTATATCTAAGAAACCATGTTTCTTTCCCCCTCGCCCCCCACTCCCTCTGTTGGCTGCTAGAAAACTTGCA
R
CTAAAATTGGGATCTGCTTGTAGCAAGAATACAGATACCTCTGGGATAGATTTTTATATTAACTACATTTTTCTGCTATATTTTTTAGGAGCTTGAAATT
Celera SNP ID:                hCV3061778
SNP Position Transcript:      2138
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,10)  african american(G,2|A,20)  total(G,4|A,30)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1122):
TATTAACTACATTTTTCTGCTATATTTTTTAGGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGA
Y
GTAAATCAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGA
Celera SNP ID:                hCV25649554
SNP Position Transcript:      2295
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1123):
AATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGG
R
GTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAA
Celera SNP ID:                hCV29884467
SNP Position Transcript:      2457
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1124):
GGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCA
Y
ATGGGTTGGACAGTCCCCACACACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAG
Celera SNP ID:                hCV1666341
SNP Position Transcript:      2580
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1125):
AAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATA
Y
ATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGG
Celera SNP ID:                hCV1666342
SNP Position Transcript:      2755
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1126):
TAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGT
Y
CCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACA
Celera SNP ID:                hCV1666343
SNP Position Transcript:      2830
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,7|T,2) ; no_pop(C,-|T,-) ; no_pop(C,93|T,44
7)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1127):
AGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTT
T
ACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGT
Celera SNP ID:                hCV26575131
SNP Position Transcript:      2896
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,6|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1128):
TGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTA
Y
AAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGT
Celera SNP ID:                hCV1666345
SNP Position Transcript:      2949
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1129):
TGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACAAACA
K
ATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGATTTCC
Celera SNP ID:                hCV1666346
SNP Position Transcript:      3115
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,4|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1130):
GGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACAT
W
AAAAACTCTTGAGAACTATAAAGTGAACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAA
Celera SNP ID:                hCV3061786
SNP Position Transcript:      3575
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,6) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1131):
TATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAG
R
TAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTC
Celera SNP ID:                hCV1666347
SNP Position Transcript:      3758
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,5) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Context              (SEQ ID NO:1132):
TTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGTTTTATATGAAACTAGAT
W
TTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT
Celera SNP ID:                hCV8905022
SNP Position Transcript:      4428
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1135|A,339) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:306, None



Gene Number:                  20
Celera Gene:                  hCG1773848 - 206000046081808
Celera Transcript:            hCT2349785 - 206000046081799
Public Transcript Accession:  NM_018048
Celera Protein:               hCP1915035 - 206000046081800
Public Protein Accession:     NP_060518
Gene Symbol:                  FLJ10292
Protein Name:                  hypothetical protein FLJ10292
Celera Genomic Axis:          GA_x5YUV32W45C(1013833..1035233)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:46):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTAGGGCACAAG
GGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGACGCATGAAGAGTACCAAGCAAGAGGGGAGAGGTAAAGTTCCACAGGAGGGAG
TCAGGAAGATCTTCTTAGAGGACGGCACTCTTGAGATGAGTCTCGAAATGAGAGACTTGGCCTTTGAGAGAAAAAAACAGACTTCCAGAGCAGTATGAGC
AGAGGATGAGGTGAAACTGCTACCCAAGTAGTGTGCAACAGTGTGTTTTCTGACAGCGCTATCCTTAGAGAATGTTACATTGATCTTGCCTACCTGCAAC
AAGAAAGTTCATTTGGATATATATTTTTTGGGTTTTTTTGAATGCACGTTTTGTGCTGGACAACAAGCAAATACAAAATTTTAAGGAAAGCTTAGATATG
CCAACAACAGCAATTACAAAAATGATGTCATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGA
AATTACAAAAGAAGATGATGCTTTGTGGCCTCCCCCTGATAGGGTTGGCCGACAGAATAAATGATGTTTCTCAGGCTTCTGAAGAACTCTGAAGGCCTAA
TTTCACTCTGTAAAAAGAAAGTTTGGTTTCTGAATTGGGTCTTTTCAACTCTTGGAGAAATTCCTTCAACAACCCCTGGAAGGAAGAAACATTTAATTTC
ACTTTTGTATATCCCTGAGGATTGTGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGATGTAAAT
CAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAAC
CAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGGGGTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGC
AAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCACATGGGTTGGACAGTCCCCACA
CACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGG
AGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTC
CCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGT
TATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGC
ATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAAC
ATTTAGACAAACAGATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTT
TCTGATAGATTTCCTCTTTCATTACTTTTAGTAACCATGTTCCTTGTTTCCTTTTATTCTTCCATCTGAAGCCCCACTCTTAAAAAGTTGCACTGTTCCA
GTAGTTATAATCCACTTGCCCTAGGAACAAGTTAGCACTGAATTTTGGGTGGAATAATTAGTTTCTGAAGGCTTGCCAGGACTCCTGAGCAGGTAGGCTC
TAGAGTCGGGCAGTCCAATAACTTTTTTGCAATAATGGAAACGTTCTATGTGCAGTCCAATAGGGTAGCAACTGGCCAAATGAGGCCTACTGATTACTTG
AGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACATTAAAAACTCTTGAGAACTATAAAGTGA
ACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTA
ATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAGATAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTA
GAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTCAAAATGCATGCCCATTGTCTTCAGGTTTGCCATGGAAAGTCAA
ATGATTTCCACTTCATTATGCAAGTACGCTATCATCTTCAGGTCTTTTGTATGTAAAATGTTTCTGTTCCAGTTGTAGACCTTGATGATTGTGCAGTATG
AAATCGTATTGTAATTTTCTTGCATTTAGATGTCAACCTCAGAAACAGGAACAATCGTCTTTTGAACTTCCAGTAGGCCCACAGTTGTTGGTTGTTCCTC
AAAACAGGTTGTGGCTCCTGTTGAATAAGATGATCCATTAAAAACTGAACAAGGTTGAGGAGAAATAGTGCTTACGTTGAAAAATCTTTAAGTCTTTGTC
CCCGTTCTCTAACTTCCTTACGTTTTCGTTTATTTAGCTCTATCCCCACTATCTACTAGAATTTCTCATATTTAAACCAAGATGGGAGACTAGGTCATTA
GGAAAATATTACCGTCTACAATTTTCTTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTAT
AATACTAGTTTTATATGAAACTAGATTTTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT


Protein Sequence     (SEQ ID NO:307):
MMFLRLLKNSEGLISLCKKKVWFLNWVFSTLGEIPSTTPGRKKHLISLLYIPEDCELEIVIGDEHISFTTSKIGSLIDVNQSKDPEGLRVFYYLVQDLKC
LVFSLIGLHFKIKPI*



SNP Information


Context              (SEQ ID NO:1133):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCG
S
TACTACGTAGGGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGACGCATGAAGAGTACCAAGCAAGAGGGGAGAGGTA
Celera SNP ID:                hCV25649566
SNP Position Transcript:      82
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,37)  total(G,1|C,77)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1134):
TAATTTCACTTTTGTATATCCCTGAGGATTGTGAGCTTGAAATTGTAATTGGAGATGAGCACATATCTTTTACCACATCAAAAATAGGTTCTCTTATTGA
Y
GTAAATCAGTCAAAGGATCCTGAAGGCCTTCGAGTATTTTACTATTTGGTACAAGACTTGAAATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGA
Celera SNP ID:                hCV25649554
SNP Position Transcript:      894
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:307, 78,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1135):
GGTTTTTTTGAATGCACGTTTTGTGCTGGACAACAAGCAAATACAAAATTTTAAGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGTCA
S
GATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGCCT
Celera SNP ID:                hCV26575150
SNP Position Transcript:      531
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1136):
TGGGTTTTTTTGAATGCACGTTTTGTGCTGGACAACAAGCAAATACAAAATTTTAAGGAAAGCTTAGATATGCCAACAACAGCAATTACAAAAATGATGT
S
ATGATCAGAAAAGAGGCTTATGTGCACAAGAGTGTAATGGAAGAACTGAAGAGAATTATTGATGACAGTGAAATTACAAAAGAAGATGATGCTTTGTGGC
Celera SNP ID:                hCV26575150
SNP Position Transcript:      529
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1137):
GAGGTGAAACTGCTACCCAAGTAGTGTGCAACAGTGTGTTTTCTGACAGCGCTATCCTTAGAGAATGTTACATTGATCTTGCCTACCTGCAACAAGAAAG
Y
TCATTTGGATATATATTTTTTGGGTTTTTTTGAATGCACGTTTTGTGCTGGACAACAAGCAAATACAAAATTTTAAGGAAAGCTTAGATATGCCAACAAC
Celera SNP ID:                hCV26575162
SNP Position Transcript:      408
SNP Source:                   Celera; Nickerson
Population(Allele,Count):     no_pop(T,3|C,1) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1138):
GGCGCCGGGGGACACGTTGGCTGCGTTTTCGGCGGGCTTCCCGGGTACAAAAATGGCTGTGGCTAGCGATTTCTACCTGCGCTACTACGTA
R
GGCACAAGGGCAAGTTTGGGCACGAGTTTCTGGAGTTCGAATTTCGGCCGGACGGACGCATGAAGAGTACCAAGCAAGAGGGGAGAGGTAAAGTTCCACA
Celera SNP ID:                hDV69171531
SNP Position Transcript:      92
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1139):
AATGTTTAGTTTTCAGTCTTATTGGATTACACTTCAAGATTAAACCAATTTAAATTGTATGTTTTCAGGCTGTTTGTATATTTAATTAAGGGATGGGAGG
R
GTTATTTGTCATTTACAGTATTGGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAA
Celera SNP ID:                hCV29884467
SNP Position Transcript:      1056
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1140):
GGGGTTTTTATGAATGTGAAGCAAACAAAAAAAATTTGTATGTAAACTGAAAATAAGAAAATACATTAGCAAGCTTAATGGTTATCCTTACTTGAGTCCA
Y
ATGGGTTGGACAGTCCCCACACACATTAAATTCTGTAAATGAAAGCCACCTTTTGTTAAAAATTTGCTCTAATAAAACATACCAAATCCTGGTTGCAGAG
Celera SNP ID:                hCV1666341
SNP Position Transcript:      1179
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1141):
AAACATACCAAATCCTGGTTGCAGAGTAGTTTTTTGTTTTTTCCAGGAGGCTATGTCTCTAATTCACTTTAGAGATAATAAGAAATTGTTCTGGTAGATA
Y
ATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGG
Celera SNP ID:                hCV1666342
SNP Position Transcript:      1354
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1142):
TAATAAGAAATTGTTCTGGTAGATATATCCTGTGACAGAAGATACTTTAGGTGGAACTATGTAGCCAGATTCCCATCCATGAAAGGCAAGTGTAGATTGT
Y
CCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACA
Celera SNP ID:                hCV1666343
SNP Position Transcript:      1429
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,7|T,2) ; no_pop(C,-|T,-) ; no_pop(C,93|T,44
7)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1143):
AGATTCCCATCCATGAAAGGCAAGTGTAGATTGTCCCTTATTTCCTTCATACATGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTT
T
ACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTATAAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGT
Celera SNP ID:                hCV26575131
SNP Position Transcript:      1495
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,6|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1144):
TGATTGGATTTAATTTTGGGGGGCTTATACAAGGTCTAGTTTTTTTTTACAGTTATGACAAACCCCTCAGGGATTATTCACATTTAAATATTTTCAGTTA
Y
AAGCAGTGAGGTCCTAAAGTGTTACAAGAGTACAGTCTACCCCATGTTAGGCATATCTTTGATTATGTCTTTATTCCTTATTTCACAATGTATTTGGTGT
Celera SNP ID:                hCV1666345
SNP Position Transcript:      1548
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1145):
TGTCTTTATTCCTTATTTCACAATGTATTTGGTGTGTAGGGGAGGGGGGAGAACTAAATGAGTTTTCAGCTTTATAAATTGTTAAACATTTAGACAAACA
K
ATATGTATGTATGAATGTACATAAATATTTTTAACTCCTATTGACCACGAGTCTCACTTCAGTTTCCCAGTTCCTTTCAACCTCTTTCTGATAGATTTCC
Celera SNP ID:                hCV1666346
SNP Position Transcript:      1714
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,4|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1146):
GGCCAAATGAGGCCTACTGATTACTTGAGGTGTGCCTTGTATAACTGAATTTATGGTGCTATTTAAACAATTTTTTTCTAACGTGAAAAGGATAAAACAT
W
AAAAACTCTTGAGAACTATAAAGTGAACACCTATATGCCTACCCCTACCTAGATTCTATACTTAACATCTTTTTTACTGTAATATCTCTATTATAATAAA
Celera SNP ID:                hCV3061786
SNP Position Transcript:      2174
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,5|A,6) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1147):
TATCTCTATTATAATAAATCTTGGTTTTTCACTTAACTGGTGTAATTGGTGCCAATAAACTACTTTTTTTGTAGTGCTATTTAATTTTGATTAAATTTAG
R
TAGCCACGTGTCTAGCGGCTACCGTTTGGACAGTATAGCTCTAGAGCATGGCTTGGTAACCTGTTTGCCATGGAGCACTAGATGGTCCTTTTCACTCCTC
Celera SNP ID:                hCV1666347
SNP Position Transcript:      2357
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,5) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Context              (SEQ ID NO:1148):
TTATACTTTGATCTGTCTTTTATTTGATTGTAAGTTGCTGATGGACAGTGATCATTAGAAACTGAATTTTGTATAATACTAGTTTTATATGAAACTAGAT
W
TTTATTGCGCTCAGGTTATGTTCCTTTTACCTCCTTCCTTAATAAAGAGACCACTTGAAAT
Celera SNP ID:                hCV8905022
SNP Position Transcript:      3027
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1135|A,339) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:307, None



Gene Number:                  21
Celera Gene:                  hCG1778022 - 146000220092495
Celera Transcript:            hCT1816776 - 146000220092496
Public Transcript Accession:  NM_014730
Celera Protein:               hCP1734921 - 197000069424784
Public Protein Accession:     NP_055545
Gene Symbol:                  KIAA0152
Protein Name:                  KIAA0152 gene product
Celera Genomic Axis:          GA_x5YUV32W46Y(68377047..68403755)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:47):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCCGGCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCC
GGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGGTGGCCGCCATGCTGGGAGCCTGGGCGGTTGAGGGAACCGCTGTGGCGCTCCTGCGACTGC
TGCTGCTGCTGCTGCCGCCGGCGATCCGGGGACCCGGGCTCGGCGTGGCCGGCGTGGCCGGCGCGGCGGGGGCCGGGCTGCCCGAGAGCGTCATTTGGGC
GGTCAACGCGGGTGGAGAGGCGCATGTGGACGTGCACGGGATCCACTTCCGCAAGGACCCTTTGGAAGGCCGGGTGGGCCGAGCCTCAGACTATGGCATG
AAACTGCCAATCCTGCGTTCCAACCCTGAGGACCAGATCCTGTATCAAACTGAGCGGTACAATGAGGAGACCTTTGGCTACGAAGTGCCCATCAAAGAGG
AGGGGGACTACGTGCTGGTCTTGAAATTTGCAGAGGTCTACTTTGCACAGTCCCAGCAAAAGGTATTTGATGTACGATTGAATGGCCACGTCGTGGTGAA
GGACTTGGATATCTTTGATCGTGTTGGGCATAGCACAGCTCACGATGAAATTATACCTATGAGCATCAGAAAGGGGAAGCTGAGTGTCCAGGGGGAGGTG
TCCACCTTCACAGGGAAACTCTACATTGAGTTTGTCAAGGGGTACTATGACAATCCCAAGGTCTGTGCACTCTACATCATGGCTGGGACAGTGGATGATG
TACCAAAGCTTCAGCCTCATCCGGGATTGGAGAAGAAAGAAGAGGAAGAAGAAGAAGAAGAATATGATGAAGGGTCTAATCTCAAAAAACAGACCAATAA
GAACCGGGTGCAGTCAGGCCCCCGCACACCCAACCCCTATGCCTCGGACAACAGCAGCCTCATGTTTCCCATCCTGGTGGCCTTCGGAGTCTTCATTCCA
ACCCTCTTCTGCCTCTGCCGGTTGTGAGAACAAATGACTATCCTGAACAGGGTGGAGGGGTGTGGGAAAGAAACCAGCCATATTGGTTTTGGTTTCTGTA
TTTTTCACAATGATTAATGAACAAAAACAAAGAGAAAAAAACACACATCAATTAAAGGAGACAAAAAGAGGCAGAGCGAGTAGAGAGCAGCCCTCATTCA
CCACCTGGTCCCAGACGTGCTTCAGTCCTCGTCCTCTCTTTGTGGCTGGCTCCCAGCCTTCTCTTTCCTCTTGAGGATACTTAGGGTAAACTGGATCCTT
CCTGCTCAAGGATCCTCATTTGTATACCTAGTGGAAAGGACTCTGAACTCAGAGGAGTCACTGTTCCTTTTTTTAGGTTAGAAATTAACAGCAGGGAAAT
GCCATCTTATTACCTGAGACGACCAGCACTGGGAGTTAGGTACGGTCTGAAGTTATGTCTAGATAAGACTTCAGACGTCCTGGGATTGAAAGAATGTGTG
TGAAGGGGTAGAATTTGTGCGGTAAAGACTTAAAAAAAAAAGTAGGGAGATTAAAAAAAAAGAAAGAAAATGCTTCCTTATCTGGAAGCCTTTCTGGATT
AATCCAGTGATGGTCCCACCTTTAGTGTTTGAGCTTTGTCATTGCTTGTCTCCCTGGCATGTGCCAGTTATAGACTGTCCAGCATCCAAGACGTTTCGGT
TATGTCGGGTCCTCAGATCGCCTCTGACTTGTTACCACAACAAATCATTTTGATTTCAGTGCCTGTTGGGGACTTGATTTCTTCTCAGTTTTGTTTGTTT
GTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGGGGATTTGGGGTT
CTCTGCTTGAATGTCTTCTCCTTTACCACCTCACCTTGTTGGTACCTCCCTCCCTGGATCTCTGAGCCAGCAGCCAGGAGGACCTGACCCAGCAGTTCTT
TACTGGCCCCTTTGTAGGGCCTTGCTGCCAGGGGGCAGGGATGCTTTCCAGCCTGCAGCAACAGAACACTTGACCTTAAAAGTCTCTTCTGGTCTTTGGA
TTAGAAAAGGCTTATGTTAGCATAGCTTAAGAGCAACCTCAGAGATTTGAGCCCTACTAAGTGACTGACCACTGTTTAGAGTGTCTGGTATCTGATGTTC
ATTTATTCCCATGTTCTTGTGTGTCACAGTTCAGCCAGTTTTGGTTTATGCCTAGAGCTACTTCAAGGAACTAGACTAATTAGCTATATAGGCCCAGCGA
TGCTTCTTATTGATCTTAATAGTATGCCCCTCCTTCCCCTGTCCTTTCATTTCTCTATCCAAGTAGCAGTCAGGTTCTTGGTGTGATGGGACTGAAAGAA
TTCCAGTCAGCCAGAGCCTTGGCAGCTCTGAAGCTAACCTTAGCATCTAAGTGTCGATCTTGAATTCCCTGAAAAAATTTCTATAGGAAATGAAGCTTCC
CTGGTCCCCTCCTTTCTGGCCATTGTCATCCATTTCCCAGTTAGGGCAACAATGAAGGAGGACCCAGCCAAGCTAGAAGGAATTTTGTGGATGGGAGACA
GCAGGATTAGCTTCAGCTTGGGCTGGAGCAGTCAATATAGGATCTCAGGCCAGGCCCGCTTTTCTAGAATGTGTTTAATTTTGAGTTTGCTTTATTAGAT
ATGTTTTTTAAGAGCTCTGTATATTTGAACTGCTCCTTATGTGACAAAATAGGTAGCTCTTGGGCTCATGTCCTGGGTTTTGGCTCTTTAATGATTACTC
CAGGCCAGCATTTAGTCGTTTGAGAATTGTAGCCTGTTGTTTTCGCTGTGACTTGGGTCTCAGTGCTAGGGTATTGAGTCAGGCAGCTGGAGGGTTGTGG
CCCGAGGCTGCAGTCAGAGGTATACTTCCCATAGTGCTTCACACAGCTCCCCTGCTTCTAAAGGATAAGGTACTGTAGCCTTGGTCCTGGGGACCACCTG
CCTGGGGCAGTGGACATCCTAACTAAACAGGCTTCTGGCAGTAGCTTTGGTTCCTATCCCATCGAAATTCCCCAAAGCCCTGGGCCACTGCCATTGGGTT
AGTCAAGATGAAGGAGGAGGACTGGCTGCCTCCATTTTGCCTTGTTTGTTAGTTTGCCTGGGTCTGTCTGAGGAAGGAGGGGGTCCCGCCTTCCACCTCA
ACACATCCCTTCAGTGACTCAGAGTCTCAGAAGGAAACCCTGACTCCTGGGGCCATTTCCTAATGGTACTGTAAGCCAAGCAGCTTTGCTTCTGCCTCTG
TTTCCAAGCCCACCCTTTTCCCCTGAGCTCAGGGTTAGGGATGGGCGCTTTCCTCTCTGGTTGTGAACGAAAGGAAGGAACATCTTTCTATGGCTAACAA
AAACTAAAGGGGAAGTGAGGAAACAGGAAGAAGTATGGTGGGGGCTGGGGTAGACTCCCCTGGAGCCAAGCCTATCCAGCTAACAAGAGCTCCCTGGGGC
TGGTCACAGCTGGCTCATGATGCTGAACTTGAAAGTTTTTTTGTTTTTGTTTTTGTTTTGTGGCTCCTCCAAGATATAGGTACATGAAGTTTAGGTTAAA
GGGGTGGGATTCTTTATTTTTATTTTTGTATTGTATGTGTCAAGAATTACTCTGTTGTTCACCTTTTGCTTTTTGCACTGTTTGTTCTCTTATCTGTATT
TTGAGCTTAGTGCTAGGACTGAGAGGCTGCACCATAGGGAATGTATGGGAGATGGTGAGGGGTGCCAGTGAGGGGTGCGTGGAGGAGAGGCCTGGGCTCC
TCTACTGGATCTACACTCTGTCCCAGGTTTTTAGATCCCACTGAGCCCAGCTGACTGAAAACAAGGACAGTCAGGGTGAAACTTCTTTTGCCAGAAGTGT
GGCCTGAGTTGAATTTCTGGGAGGATGACGCAGATGTCTGCTGCAGAGCTGGGCTGAGAGTTCTGCAGTCTAGCTCTGACTTAGGTCAGGGGCCTGTTGG
TCTCTCATTGGACGTTTTTGGGTCTCACTCATGCTTACTGAAACATTGTGCCAAGAAACTCTGTGGGATTTGTGTCCCTTAAACCAGACTCACTTTTCTG
AAAAATCTCCATTGTTGAGGAGAGGCTGCTCAATCGACACCCCGAGTTCTCATGACTGGGAAGATAGTTTTCTTCAGGTGTCAATGGCGTTAGACTCCCA
GGAAGACTAGCCCTGCCCACAGGGCCACCTGTTGGTTTGAGAGCGTGTTCGTGTTCTCTTGCCCTCCCTGCCTAAGAGCTACTGGGATCACGTTAGCGGG
CATTTAGGCTTTGATGAGAGGGCACAGTTTGAGTTAGGTTTACCTCCCCCTTTCTGTGCCTGGGAACTGTTTGGTCCAGCTTTAGAACTGTGGTTTTGAC
TTCCTTATCTCTTGGGAGAAGCTTCTGTTTTAAGGAATTTCTCTTCCTTCTTCTCCTGCCTCTAGCCTCTCCTGGAAAGGCCTGGATATGGTTTCTAAAA
TCTCAGCTGAGAACTTCAGAAAACAGCAGCAGTATTTTCCTTTTCCTAGTGCTAAAATCCCTTTCCCTAGAAATTGGCTCACCTTGGGAAACCCAGGGAA
AGAATCAGCAGGTTCTCTGCCCTCCCTAGGGGTTGGGGAAGGACCCACCCCGGTCAGCACAGTGCCTTTTCCTCTCCTGCTCTGAGCCAGGGTGGGGCAT
TCCCTCTAGATTCAGGTTTGGGCAGGGGTCCTATAGTCCCTGCCATGGGGCTGCTTCCCTGTCCCTTCCCTCCCCTTTGCTGGCCTACTCTGGCATAATT
CAAGTGTCTTCTTGCCTTGGGGATCCTTAGTGGCATCAAATGGCAACATGGAATATTGTCCTCCATGCCCCTCCAGAAGGACCTAGGAGAGTAGGTGAGC
TTTCCAAAGTGAGAGACGAATCTTTCTTTCTTTTTTTTTTTAAAGGGCAGGATGGGTATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAG
ACTGAGGCAAGGCAAAGTGATAGTACACTGAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAAATCTGCTTCTCTTCGATGGAAAG
ATATAATTAACGATCAAAGAGCTCTAAGAAAATTGCAAAGAAGCCTTAATGTTCAAGCTTTAGAAAGATCAGAGCAATTTTTCTCTTTCAGTCCAAACTA
AGACTCTCTGTATTTAAATCTCTCTGGGGCAAGAGGGCTAGATTTCCTCATTTTGTTATGAGACTAGATTGGTACCAGTAGATCAGCTGCCTAGCGAGGG
CAGGTTTCTTCTTTGCATCTGTGTGGCTTGCTTCCAGTCTGGCCTGTCCTTTCCAGCTGCCTTTTGTCTAGCCTGCTATGGGGGGCCAGATTATCTTGAT
AAGAGCAGGTGATTTGGGGACTAGCTGGGTTGGCAGGAAAAGAGCAGGATGGATCTCTTGGGACAGGTTCCCCCAGGAGTATAAACACAAGGAGCCAGGA
TTGTGCTGGCAGCCAAGGAAACAGTAGTGCCTGTTTGAGTTGGCAGAGAGGGCCTTGGCACCTCTTGCATCCAGGCAGTCTTGTGAGATGGGGGCACATA
GCACTGGGGAAAGCAGAACTCCATTCTCACCTCTATTTTGAGCTTCAGTGCTTTATTTCAGTATGAGGAAAAACAACAACAAACTGAAGTGCGCTTTCCG
TCCTTTCAAAGGACAACTGTCGGGAAGGGAGAGCCGAGTTGCGAGGTAGGAGGGGAGCACTGGCAGGGAGAGACATTCTTGACTCCTCTCTTCCCTGGTG
TGTTGTGATCCAGGGAATGAAAAGAAATTTGACCCTGGATTGGTTCTCTCCTTGGACTTAAGGAATCTTACCTTTTCCTTCCACAAAGTTCTCCCAGGCA
AGGACCAGCTGCCCATTCTGAGCCCAGGGCAGCCTCTTCAACCATTATTGGTCTAACCTGGCTTGTCAGGAAACCAAGCCCACCCTTCCACATTGGGCCT
GGCTGCTCTATTCTGTACCAAGTACTGGAGAAAAAGCATCAAGTTCTTAGCCCTTGTAGCTTCTACCCTAGTTTCCCATCCTCTCTCTGTGGAGGCCAAA
CCAACTCTTTGCCAGCAGCCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGCTTTGAACCTGGTTGGCCGGGGAAGCTGTAGGGGTGG
ATAGAGCTGGCTTTCCTTCTGGGCTGTCTCCATCTGACCCTACCCCTTCCATGTCCCACCCCACTCCCACCAAAAAGTACAAAATCAGGATGTTTTTCAC
TGTCCATTGCTTTGTGTTTTAATAAACAATTTGCAGTGAC


Protein Sequence     (SEQ ID NO:308):
MLGAWAVEGTAVALLRLLLLLLPPAIRGPGLGVAGVAGAAGAGLPESVIWAVNAGGEAHVDVHGIHFRKDPLEGRVGRASDYGMKLPILRSNPEDQILYQ
TERYNEETFGYEVPIKEEGDYVLVLKFAEVYFAQSQQKVFDVRLNGHVVVKDLDIFDRVGHSTAHDEIIPMSIRKGKLSVQGEVSTFTGKLYIEFVKGYY
DNPKVCALYIMAGTVDDVPKLQPHPGLEKKEEEEEEEEYDEGSNLKKQTNKNRVQSGPRTPNPYASDNSSLMFPILVAFGVFIPTLFCLCRL*



SNP Information


Context              (SEQ ID NO:1149):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCC
R
GCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCCGGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGG
Celera SNP ID:                hCV11702331
SNP Position Transcript:      40
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,6|G,86) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1150):
CCTTCGGAGTCTTCATTCCAACCCTCTTCTGCCTCTGCCGGTTGTGAGAACAAATGACTATCCTGAACAGGGTGGAGGGGTGTGGGAAAGAAACCAGCCA
Y
ATTGGTTTTGGTTTCTGTATTTTTCACAATGATTAATGAACAAAAACAAAGAGAAAAAAACACACATCAATTAAAGGAGACAAAAAGAGGCAGAGCGAGT
Celera SNP ID:                hCV25986709
SNP Position Transcript:      1081
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,31)  african american(C,0|T,38)  total(C,3|T,69)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1151):
TCCTCTTGAGGATACTTAGGGTAAACTGGATCCTTCCTGCTCAAGGATCCTCATTTGTATACCTAGTGGAAAGGACTCTGAACTCAGAGGAGTCACTGTT
Y
CTTTTTTTAGGTTAGAAATTAACAGCAGGGAAATGCCATCTTATTACCTGAGACGACCAGCACTGGGAGTTAGGTACGGTCTGAAGTTATGTCTAGATAA
Celera SNP ID:                hCV11702332
SNP Position Transcript:      1366
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1152):
AGACGTTTCGGTTATGTCGGGTCCTCAGATCGCCTCTGACTTGTTACCACAACAAATCATTTTGATTTCAGTGCCTGTTGGGGACTTGATTTCTTCTCAG
T
TTTGTTTGTTTGTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGGG
Celera SNP ID:                hCV26768769
SNP Position Transcript:      1789
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1153):
GTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGGGGATTTGGGGTT
Y
TCTGCTTGAATGTCTTCTCCTTTACCACCTCACCTTGTTGGTACCTCCCTCCCTGGATCTCTGAGCCAGCAGCCAGGAGGACCTGACCCAGCAGTTCTTT
Celera SNP ID:                hCV29228007
SNP Position Transcript:      1901
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1154):
TTCCAGCCTGCAGCAACAGAACACTTGACCTTAAAAGTCTCTTCTGGTCTTTGGATTAGAAAAGGCTTATGTTAGCATAGCTTAAGAGCAACCTCAGAGA
Y
TTGAGCCCTACTAAGTGACTGACCACTGTTTAGAGTGTCTGGTATCTGATGTTCATTTATTCCCATGTTCTTGTGTGTCACAGTTCAGCCAGTTTTGGTT
Celera SNP ID:                hCV1259266
SNP Position Transcript:      2146
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,51|T,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1155):
TTCTGGTCTTTGGATTAGAAAAGGCTTATGTTAGCATAGCTTAAGAGCAACCTCAGAGATTTGAGCCCTACTAAGTGACTGACCACTGTTTAGAGTGTCT
R
GTATCTGATGTTCATTTATTCCCATGTTCTTGTGTGTCACAGTTCAGCCAGTTTTGGTTTATGCCTAGAGCTACTTCAAGGAACTAGACTAATTAGCTAT
Celera SNP ID:                hCV1259265
SNP Position Transcript:      2187
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3|A,1) ; no_pop(G,94|A,26)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1156):
TAAGAGCAACCTCAGAGATTTGAGCCCTACTAAGTGACTGACCACTGTTTAGAGTGTCTGGTATCTGATGTTCATTTATTCCCATGTTCTTGTGTGTCAC
R
GTTCAGCCAGTTTTGGTTTATGCCTAGAGCTACTTCAAGGAACTAGACTAATTAGCTATATAGGCCCAGCGATGCTTCTTATTGATCTTAATAGTATGCC
Celera SNP ID:                hCV29228008
SNP Position Transcript:      2228
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1157):
ATGTGTTTAATTTTGAGTTTGCTTTATTAGATATGTTTTTTAAGAGCTCTGTATATTTGAACTGCTCCTTATGTGACAAAATAGGTAGCTCTTGGGCTCA
W
GTCCTGGGTTTTGGCTCTTTAATGATTACTCCAGGCCAGCATTTAGTCGTTTGAGAATTGTAGCCTGTTGTTTTCGCTGTGACTTGGGTCTCAGTGCTAG
Celera SNP ID:                hCV27533763
SNP Position Transcript:      2769
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1158):
GCTCACCTTGGGAAACCCAGGGAAAGAATCAGCAGGTTCTCTGCCCTCCCTAGGGGTTGGGGAAGGACCCACCCCGGTCAGCACAGTGCCTTTTCCTCTC
Y
TGCTCTGAGCCAGGGTGGGGCATTCCCTCTAGATTCAGGTTTGGGCAGGGGTCCTATAGTCCCTGCCATGGGGCTGCTTCCCTGTCCCTTCCCTCCCCTT
Celera SNP ID:                hCV11702334
SNP Position Transcript:      4677
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1159):
TTGTCCTCCATGCCCCTCCAGAAGGACCTAGGAGAGTAGGTGAGCTTTCCAAAGTGAGAGACGAATCTTTCTTTCTTTTTTTTTTTAAAGGGCAGGATGG
K
TATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACACTGAAGCAGAACCGGAAACACCCAGGAAC
Celera SNP ID:                hCV31583292
SNP Position Transcript:      4956
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1172|T,310) ; no_pop(G,-|T,-) ; no_pop(G,120|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1160):
AAGGACCTAGGAGAGTAGGTGAGCTTTCCAAAGTGAGAGACGAATCTTTCTTTCTTTTTTTTTTTAAAGGGCAGGATGGGTATGCTTTGGGCTTTCTCCT
Y
CTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACACTGAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAA
Celera SNP ID:                hCV11702335
SNP Position Transcript:      4977
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,114|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1161):
TCTTTTTTTTTTTAAAGGGCAGGATGGGTATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACAC
K
GAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAAATCTGCTTCTCTTCGATGGAAAGATATAATTAACGATCAAAGAGCTCTAAGA
Celera SNP ID:                hCV11702336
SNP Position Transcript:      5029
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1162):
AAGAAGCCTTAATGTTCAAGCTTTAGAAAGATCAGAGCAATTTTTCTCTTTCAGTCCAAACTAAGACTCTCTGTATTTAAATCTCTCTGGGGCAAGAGGG
Y
TAGATTTCCTCATTTTGTTATGAGACTAGATTGGTACCAGTAGATCAGCTGCCTAGCGAGGGCAGGTTTCTTCTTTGCATCTGTGTGGCTTGCTTCCAGT
Celera SNP ID:                hCV11702337
SNP Position Transcript:      5238
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1163):
CTTGCATCCAGGCAGTCTTGTGAGATGGGGGCACATAGCACTGGGGAAAGCAGAACTCCATTCTCACCTCTATTTTGAGCTTCAGTGCTTTATTTCAGTA
Y
GAGGAAAAACAACAACAAACTGAAGTGCGCTTTCCGTCCTTTCAAAGGACAACTGTCGGGAAGGGAGAGCCGAGTTGCGAGGTAGGAGGGGAGCACTGGC
Celera SNP ID:                hCV27476755
SNP Position Transcript:      5664
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,81|T,1413) ; no_pop(C,-|T,-) ; no_pop(C,2|T,118)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1164):
TGAAAAGAAATTTGACCCTGGATTGGTTCTCTCCTTGGACTTAAGGAATCTTACCTTTTCCTTCCACAAAGTTCTCCCAGGCAAGGACCAGCTGCCCATT
Y
TGAGCCCAGGGCAGCCTCTTCAACCATTATTGGTCTAACCTGGCTTGTCAGGAAACCAAGCCCACCCTTCCACATTGGGCCTGGCTGCTCTATTCTGTAC
Celera SNP ID:                hCV11702338
SNP Position Transcript:      5918
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1165):
TGTCAGGAAACCAAGCCCACCCTTCCACATTGGGCCTGGCTGCTCTATTCTGTACCAAGTACTGGAGAAAAAGCATCAAGTTCTTAGCCCTTGTAGCTTC
Y
ACCCTAGTTTCCCATCCTCTCTCTGTGGAGGCCAAACCAACTCTTTGCCAGCAGCCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGC
Celera SNP ID:                hCV11702339
SNP Position Transcript:      6064
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1166):
CAGGAAACCAAGCCCACCCTTCCACATTGGGCCTGGCTGCTCTATTCTGTACCAAGTACTGGAGAAAAAGCATCAAGTTCTTAGCCCTTGTAGCTTCTAC
Y
CTAGTTTCCCATCCTCTCTCTGTGGAGGCCAAACCAACTCTTTGCCAGCAGCCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGCTTT
Celera SNP ID:                hCV11702340
SNP Position Transcript:      6067
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1496|T,90) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1167):
TCTCTCTGTGGAGGCCAAACCAACTCTTTGCCAGCAGCCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGCTTTGAACCTGGTTGGCC
R
GGGAAGCTGTAGGGGTGGATAGAGCTGGCTTTCCTTCTGGGCTGTCTCCATCTGACCCTACCCCTTCCATGTCCCACCCCACTCCCACCAAAAAGTACAA
Celera SNP ID:                hCV11702341
SNP Position Transcript:      6182
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1168):
GCCAGCAGCCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGCTTTGAACCTGGTTGGCCGGGGAAGCTGTAGGGGTGGATAGAGCTGG
S
TTTCCTTCTGGGCTGTCTCCATCTGACCCTACCCCTTCCATGTCCCACCCCACTCCCACCAAAAAGTACAAAATCAGGATGTTTTTCACTGTCCATTGCT
Celera SNP ID:                hCV11702342
SNP Position Transcript:      6211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1169):
CCACAACATGCATTGACAGCGGCACAGTGAGATATAACTGATGGGCTTTGAACCTGGTTGGCCGGGGAAGCTGTAGGGGTGGATAGAGCTGGCTTTCCTT
Y
TGGGCTGTCTCCATCTGACCCTACCCCTTCCATGTCCCACCCCACTCCCACCAAAAAGTACAAAATCAGGATGTTTTTCACTGTCCATTGCTTTGTGTTT
Celera SNP ID:                hCV11702347
SNP Position Transcript:      6219
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Context              (SEQ ID NO:1170):
CTTTCCTTCTGGGCTGTCTCCATCTGACCCTACCCCTTCCATGTCCCACCCCACTCCCACCAAAAAGTACAAAATCAGGATGTTTTTCACTGTCCATTGC
K
TTGTGTTTTAATAAACAATTTGCAGTGAC
Celera SNP ID:                hCV11702348
SNP Position Transcript:      6311
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:308, None



Gene Number:                  21
Celera Gene:                  hCG1778022 - 146000220092495
Celera Transcript:            hCT1955412 - 146000220092505
Public Transcript Accession:  NM_014730
Celera Protein:               hCP1765089 - 197000069424788
Public Protein Accession:     NP_055545
Gene Symbol:                  KIAA0152
Protein Name:                  KIAA0152 gene product
Celera Genomic Axis:          GA_x5YUV32W46Y(68377047..68403755)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:48):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCCGGCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCC
GGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGGTGGCCGCCATGCTGGGAGCCTGGGCGGTTGAGGGAACCGCTGTGGCGCTCCTGCGACTGC
TGCTGCTGCTGCTGCCGCCGGCGATCCGGGGACCCGGGCTCGGCGTGGCCGGCGTGGCCGGCGCGGCGGGGGCCGGGCTGCCCGAGAGCGTCATTTGGGC
GGTCAACGCGGGTGGAGAGGCGCATGTGGACGTGCACGGGATCCACTTCCGCAAGGACCCTTTGGAAGGCCGGGTGGGCCGAGCCTCAGACTATGGCATG
AAACTGCCAATCCTGCGTTCCAACCCTGAGGACCAGATCCTGTATCAAACTGAGCGGTACAATGAGGAGACCTTTGGCTACGAAGTGCCCATCAAAGAGG
AGGGGGACTACGTGCTGGTCTTGAAATTTGCAGAGGTCTACTTTGCACAGTCCCAGCAAAAGGTATTTGATGTACGATTGAATGGCCACGTCGTGGTGAA
GGACTTGGATATCTTTGATCGTGTTGGGCATAGCACAGCTCACGATGAAATTATACCTATGAGCATCAGAAAGGGGAAGCTGAGTGTCCAGGGGGAGGTG
TCCACCTTCACAGGGAAACTCTACATTGAGTTTGTCAAGGGGTACTATGACAATCCCAAGGTCTGTGCACTCTACATCATGGCTGGGACAGTGGATGATG
TACCAAAGCTTCAGCCTCATCCGGGATTGGAGAAGAAAGAAGAGGAAGAAGAAGAAGAAGAATATGATGAAGGGTCTAATCTCAAAAAACAGACCAATAA
GAACCGGGTGCAGTCAGGCCCCCGCACACCCAACCCCTATGCCTCGGACAACAGCAGCCTCATGTTTCCCATCCTGGTGGCCTTCGGAGTCTTCATTCCA
ACCCTCTTCTGCCTCTGCCGGTTGGCAGGATGGGTATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATA
GTACACTGAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAAATCTGCTTCTCTTCGATGGAAAGATATAATTAACGATCAAAGAGC
TTTTTCTCTTTCAGTCCAAACTAAGACTCTCTGTATTTAAATCTCTCTGGGGCAAGAGGGCTAGATTTCCTCATTTTGTTATGAGACTAGATTGGTACCA
GTAGATCAGCTGCCTAGCGAGGGCAGGTTTCTTCTTTGCATCTGTGTGGCTTGCTTCCAGTCTGGCCTGTCCTTTCCAGCTGCCTTTTGTCTAGCCTGCT
ATGGGGGGCCAGATTATCTTGATAAGAGCAGGTGATTTGGGGACTAGCTGGGTTGGCAGGAAAAGAGCAGGATGGATCTCTTGGGACAGGTTCCCCCAGG
AGTATAAACACAAGGAGCCAGGATTGTGCTGTCTATTTTGAGCTTCAGTGCTTTATTTCAGTATGAGGAAAAACAACAACAAACTGAAGTGCGCTTTCCG
TCCTTTCAAAGGACAACTGTCGGGAAGGGAGAGCCGAGTTGCGAGGTAGGAGGGGAGCACTGGCAGGGAGAGACATTCTTGACTCCTCTCTTCCCTGGTG
TGTTGTGATCCAGGGCAGGCAAGGACCAGCTGCCCATTCTGAGCCCAGGGCAGCCTCTTCAACCATTATTGGTCTAACCTGGCTTGTCAGGAAACCAAGC


Protein Sequence     (SEQ ID NO:309):
MLGAWAVEGTAVALLRLLLLLLPPAIRGPGLGVAGVAGAAGAGLPESVIWAVNAGGEAHVDVHGIHFRKDPLEGRVGRASDYGMKLPILRSNPEDQILYQ
TERYNEETFGYEVPIKEEGDYVLVLKFAEVYFAQSQQKVFDVRLNGHVVVKDLDIFDRVGHSTAHDEIIPMSIRKGKLSVQGEVSTFTGKLYIEFVKGYY
DNPKVCALYIMAGTVDDVPKLQPHPGLEKKEEEEEEEEYDEGSNLKKQTNKNRVQSGPRTPNPYASDNSSLMFPILVAFGVFIPTLFCLCRLAGWVCFGL
SPSVAPEEGETEARQSDSTLKQNRKHPGTVQKSQKKSASLRWKDIINDQRAFSLSVQTKTLCI*



SNP Information


Context              (SEQ ID NO:1171):
TTCTGCCTCTGCCGGTTGGCAGGATGGGTATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACAC
K
GAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAAATCTGCTTCTCTTCGATGGAAAGATATAATTAACGATCAAAGAGCTTTTTCT
Celera SNP ID:                hCV11702336
SNP Position Transcript:      1107
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:309, 320,(L,CTG) (R,CGG)



Context              (SEQ ID NO:1172):
CCCCTATGCCTCGGACAACAGCAGCCTCATGTTTCCCATCCTGGTGGCCTTCGGAGTCTTCATTCCAACCCTCTTCTGCCTCTGCCGGTTGGCAGGATGG
K
TATGCTTTGGGCTTTCTCCTTCTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACACTGAAGCAGAACCGGAAACACCCAGGAAC
Celera SNP ID:                hCV31583292
SNP Position Transcript:      1034
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1172|T,310) ; no_pop(G,-|T,-) ; no_pop(G,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:309, 296,(V,GTA) (L,TTA)



Context              (SEQ ID NO:1173):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCC
R
GCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCCGGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGG
Celera SNP ID:                hCV11702331
SNP Position Transcript:      40
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,6|G,86) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:309, None



Context              (SEQ ID NO:1174):
CAGCCTCATGTTTCCCATCCTGGTGGCCTTCGGAGTCTTCATTCCAACCCTCTTCTGCCTCTGCCGGTTGGCAGGATGGGTATGCTTTGGGCTTTCTCCT
Y
CTGTGGCCCCGGAGGAAGGAGAGACTGAGGCAAGGCAAAGTGATAGTACACTGAAGCAGAACCGGAAACACCCAGGAACTGTTCAGAAATCTCAGAAGAA
Celera SNP ID:                hCV11702335
SNP Position Transcript:      1055
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,114|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:309, 303,(S,TCT) (P,CCT)



Context              (SEQ ID NO:1175):
CTTCTCTTCGATGGAAAGATATAATTAACGATCAAAGAGCTTTTTCTCTTTCAGTCCAAACTAAGACTCTCTGTATTTAAATCTCTCTGGGGCAAGAGGG
Y
TAGATTTCCTCATTTTGTTATGAGACTAGATTGGTACCAGTAGATCAGCTGCCTAGCGAGGGCAGGTTTCTTCTTTGCATCTGTGTGGCTTGCTTCCAGT
Celera SNP ID:                hCV11702337
SNP Position Transcript:      1261
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:309, None



Context              (SEQ ID NO:1176):
AGAGCAGGATGGATCTCTTGGGACAGGTTCCCCCAGGAGTATAAACACAAGGAGCCAGGATTGTGCTGTCTATTTTGAGCTTCAGTGCTTTATTTCAGTA
Y
GAGGAAAAACAACAACAAACTGAAGTGCGCTTTCCGTCCTTTCAAAGGACAACTGTCGGGAAGGGAGAGCCGAGTTGCGAGGTAGGAGGGGAGCACTGGC
Celera SNP ID:                hCV27476755
SNP Position Transcript:      1564
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,81|T,1413) ; no_pop(C,-|T,-) ; no_pop(C,2|T,118)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:309, None



Context              (SEQ ID NO:1177):
TTGCGAGGTAGGAGGGGAGCACTGGCAGGGAGAGACATTCTTGACTCCTCTCTTCCCTGGTGTGTTGTGATCCAGGGCAGGCAAGGACCAGCTGCCCATT
Y
TGAGCCCAGGGCAGCCTCTTCAACCATTATTGGTCTAACCTGGCTTGTCAGGAAACCAAGC
Celera SNP ID:                hCV11702338
SNP Position Transcript:      1739
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:309, None



Gene Number:                  21
Celera Gene:                  hCG1778022 - 146000220092495
Celera Transcript:            hCT2308034 - 146000220092518
Public Transcript Accession:  NM_014730
Celera Protein:               hCP1881525 - 197000069424789
Public Protein Accession:     NP_055545
Gene Symbol:                  KIAA0152
Protein Name:                  KIAA0152 gene product
Celera Genomic Axis:          GA_x5YUV32W46Y(68377047..68403755)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:49):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCCGGCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCC
GGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGGTGGCCGCCATGCTGGGAGCCTGGGCGGTTGAGGGAACCGCTGTGGCGCTCCTGCGACTGC
TGCTGCTGCTGCTGCCGCCGGCGATCCGGGGACCCGGGCTCGGCGTGGCCGGCGTGGCCGGCGCGGCGGGGGCCGGGCTGCCCGAGAGCGTCATTTGGGC
GGTCAACGCGGGTGGAGAGGCGCATGTGGACGTGCACGGGATCCACTTCCGCAAGGACCCTTTGGAAGGCCGGGTGGGCCGAGCCTCAGACTATGGCATG
AAACTGCCAATCCTGCGTTCCAACCCTGAGGACCAGATCCTGTATCAAACTGAGCGGTACAATGAGGAGACCTTTGGCTACGAAGTGCCCATCAAAGAGG
AGGGGGACTACGTGCTGGTCTTGAAATTTGCAGAGGTCTACTTTGCACAGTCCCAGCAAAAGGTATTTGATGTACGATTGAATGGCCACGTCGTGGTGAA
GGACTTGGATATCTTTGATCGTGTTGGGCATAGCACAGCTCACGATGAAATTATACCTATGAGCATCAGAAAGGGGAAGCTGAGTGTCCAGGGGGAGGTG
TCCACCTTCACAGGGAAACTCTACATTGAGTTTGTCAAGGGGTACTATGACAATCCCAAGGTCTGTGCACTCTACATCATGGCTGGGACAGTGGATGGTA
GTCTTCATTCCAACCCTCTTCTGCCTCTGCCGGTTGTGAGAACAAATGACTATCCTGAACAGGGTGGAGGGGTGTGGGAAAGAAACCAGCCATATTGGTT
TTGGTTTCTGTATTTTTCACAATGATTAATGAACAAAAACAAAGAGAAAAAAACACACATCAATTAAAGGAGACAAAAAGAGGCAGAGCGAGTAGAGAGC
AGCCCTCATTCACCACCTGGTCCCAGACGTGCTTCAGTCCTCGTCCTCTCTTTGTGGCTGGCTCCCAGCCTTCTCTTTCCTCTTGAGGATACTTAGGGTA
AACTGGATCCTTCCTGCTCAAGGATCCTCATTTGTATACCTAGTGGAAAGGACTCTGAACTCAGAGGAGTCACTGTTCCTTTTTTTAGGTTAGAAATTAA
CAGCAGGGAAATGCCATCTTATTACCTGAGACGACCAGCACTGGGAGTTAGGTACGGTCTGAAGTTATGTCTAGATAAGACTTCAGACGTCCTGGGATTG
AAAGAATGTGTGTGAAGGGGTAGAATTTGTGCGGTAAAGACTTAAAAAAAAAAGTAGGGAGATTAAAAAAAAAGAAAGAAAATGCTTCCTTATCTGGAAG
CCTTTCTGGATTAATCCAGTGATGGTCCCACCTTTAGTGTTTGAGCTTTGTCATTGCTTGTCTCCCTGGCATGTGCCAGTTATAGACTGTCCAGCATCCA
AGACGTTTCGGTTATGTCGGGTCCTCAGATCGCCTCTGACTTGTTACCACAACAAATCATTTTGATTTCAGTGCCTGTTGGGGACTTGATTTCTTCTCAG
TTTTGTTTGTTTGTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGG
GGATTTGGGGTTCTCTGCTTGAATGTCTTCTCCTTTACCACCTCACCTTGTTGGTACCTCCCTCCCTGGATCTCTGAGCC


Protein Sequence     (SEQ ID NO:310):
MLGAWAVEGTAVALLRLLLLLLPPAIRGPGLGVAGVAGAAGAGLPESVIWAVNAGGEAHVDVHGIHFRKDPLEGRVGRASDYGMKLPILRSNPEDQILYQ
TERYNEETFGYEVPIKEEGDYVLVLKFAEVYFAQSQQKVFDVRLNGHVVVKDLDIFDRVGHSTAHDEIIPMSIRKGKLSVQGEVSTFTGKLYIEFVKGYY
DNPKVCALYIMAGTVDGSLHSNPLLPLPVVRTNDYPEQGGGVWERNQPYWFWFLYFSQ*



SNP Information


Context              (SEQ ID NO:1178):
GGATGGTAGTCTTCATTCCAACCCTCTTCTGCCTCTGCCGGTTGTGAGAACAAATGACTATCCTGAACAGGGTGGAGGGGTGTGGGAAAGAAACCAGCCA
Y
ATTGGTTTTGGTTTCTGTATTTTTCACAATGATTAATGAACAAAAACAAAGAGAAAAAAACACACATCAATTAAAGGAGACAAAAAGAGGCAGAGCGAGT
Celera SNP ID:                hCV25986709
SNP Position Transcript:      893
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,31)  african american(C,0|T,38)  total(C,3|T,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:310, 249,(Y,TAT) (H,CAT)



Context              (SEQ ID NO:1179):
GTGGCTGAGAAGAAGGAGGCCTGAGAGCGACATGTCCCC
R
GCGGCTCAGGCGGAGCGGCCCGTGGCGCTGTTTTTCTGAGTCCGGGGTGGCCTGGCAGCCGGCCGAGGACGAGGGTCGGCGGGGGCTGCCCCCGTGGTGG
Celera SNP ID:                hCV11702331
SNP Position Transcript:      40
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,6|G,86) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:310, None



Context              (SEQ ID NO:1180):
TCCTCTTGAGGATACTTAGGGTAAACTGGATCCTTCCTGCTCAAGGATCCTCATTTGTATACCTAGTGGAAAGGACTCTGAACTCAGAGGAGTCACTGTT
Y
CTTTTTTTAGGTTAGAAATTAACAGCAGGGAAATGCCATCTTATTACCTGAGACGACCAGCACTGGGAGTTAGGTACGGTCTGAAGTTATGTCTAGATAA
Celera SNP ID:                hCV11702332
SNP Position Transcript:      1178
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:310, None



Context              (SEQ ID NO:1181):
AGACGTTTCGGTTATGTCGGGTCCTCAGATCGCCTCTGACTTGTTACCACAACAAATCATTTTGATTTCAGTGCCTGTTGGGGACTTGATTTCTTCTCAG
T
TTTGTTTGTTTGTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGGG
Celera SNP ID:                hCV26768769
SNP Position Transcript:      1601
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:310, None



Context              (SEQ ID NO:1182):
GTTTGTTTCCTTAATCTGGCTCATTTGAAATTTCTTCTCCCTCTCAACCATCCCACTAAGTTATAGCCAAGAAGGGAAGGAGACACGGGGATTTGGGGTT
Y
TCTGCTTGAATGTCTTCTCCTTTACCACCTCACCTTGTTGGTACCTCCCTCCCTGGATCTCTGAGCC
Celera SNP ID:                hCV29228007
SNP Position Transcript:      1713
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:310, None



Gene Number:                  22
Celera Gene:                  hCG1778310 - 62000133262824
Celera Transcript:            hCT1817078 - 62000133262962
Public Transcript Accession:
Celera Protein:               hCP1698712 - 197000064938159
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W6LE(799247..833941)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:50):
ATGAGTGTTGGCCGGAGGAAGCTGGCCCTGCTCTGGGCCCTGGCTCTCGCTCTGGCCTGCACCCGGCACACAGGCCATGCCCAGGATGGCTCCTCCGAAT
CCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGTCCCGCTCCGTGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCC
TGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCAGCTTCCACTACAAGACCTTCGACGGCGACGTCTTCCGCTTCCCC
GGCCTCTGCAACTACGTGTTCTCCGAGCACTGCGGTGCCGCCTACGAGGATTTTAACATCCAGCTACGCCGCAGCCAGGAGTCAGCGGCCCCCACGCTGA
GCAGGGTCCTCATGAAGGTGGATGGCGTGGTCATCCAGCTGACCAAGGGCTCCGTCCTGGTCAACGGCCACCCGGTCCTGCTGCCCTTCAGCCAGTCTGG
GGTCCTCATTCAGCAGAGCAGCAGCTACACCAAGGTGGAGGCCAGGCTGGGCCTTGTCCTCATGTGGAACCACGATGACAGCCTGCTGCTGGAGCTGGAC
ACCAAATACGCCAACAAGACCTGTGGGCTCTGTGGGGACTTCAACGGGATGCCCGTGGTCAGCGAGCTCCTCTCCCACAACACCAAGCTGACACCCATGG
AATTCGGGAACCTGCAGAAGATGGACGACCCCACGGAGCAGTGTCAGGACCCTGTCCCTGAACCCCCGAGGAACTGCTCCACTGGCTTTGGCATCTGTGA
GGAGCTCCTGCACGGCCAGCTGTTCTCTGGCTGCGTGGCCCTGGTGGACGTCGGCAGCTACCTGGAGGCTTGCAGGCAAGACCTCTGCTTCTGTGAAGAC
ACCGACCTGCTCAGCTGCGTCTGCCACACCCTTGCCGAGTACTCCCGGCAGTGCACCCATGCAGGGGGGTTGCCCCAGGACTGGCGGGGCCCTGACTTCT
GCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAACCAGGAGCACTCCCGGGCCTGTGAGGACCA
CTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGTGTCAAAGTGTGCCTGCGTCTACAACGGG
GCTGCCTATGCCCCAGGGGCCACCTACTCCACAGACTGCACCAACTGCACCTGCTCCGGAGGCCGGTGGAGCTGCCAGGAGGTTCCATGCCCGGGTACCT
GCTCTGTGCTTGGAGGTGCCCACTTCTCAACGTTTGACGGGAAGCAATACACGGTGCACGGCGACTGCAGCTATGTGCTGACCAAGCCCTGTGACAGCAG
TGCCTTCACTGTACTGGCTGAGCTGCGCAGGTGCGGGCTGACGGACAGCGAGACCTGCCTGAAGAGCGTGACACTGAGCCTGGATGGGGTGCAGACGGTG
GTGGTGATCAAGGCCAGTGGGGAAGTGTTCCTGAACCAGATCTACACCCAGCTGCCCATCTCTGCAGCCAACGTCACCATCTTCAGACCCTCAACCTTCT
TCATCATCGCCCAGACCAGCCTGGGCCTGCAGCTGAACCTGCAGCTGGTGCCCACCATGCAGCTGTTCATGCAGCTGGCGCCCAAGCTCCGTGGGCAGAC
CTGCGGTCTCTGTGGGAACTTCAACAGCATCCAGGCCGATGACTTCCGGACCCTCAGTGGGGTGGTGGAGGCCACCGCTGCGGCCTTCTTCAACACCTTC
AAGACCCAGGCCGCCTGCCCCAACATCAGGAACAGCTTCGAGGACCCCTGCTCTCTGAGCGTGGAGAATGAGAAGTATGCTCAGCACTGGTGCTCGCAGC
TGACCGATGCCGACGGCCCCTTCGGCCGGTGCCATGCTGCCGTGAAGCCGGGCACCTACTACTCGAACTGCATGTTTGACACCTGCAACTGTGAGCGGAG
CGAGGACTGCCTGTGCGCCGCGCTGTCCTCCTACGTGCACGCCTGTGCCGCCAAGGGCGTGCAGCTCGGCGGCTGGAGGGACGGCGTCTGCACGAAGCCT
ATGACCACTTGCCCCAAGTCAATGACGTACCACTACCATGTCAGCACCTGCCAGCCCACCTGCCGCTCCCTGAGCGAGGGGGACATCACCTGCAGTGTTG
GCTTCATCCCCGTGGATGGCTGCATCTGTCCCAAGGGCACCTTCCTGGACGACACGGGCAAGTGTGTGCAGGCCAGCAACTGTCCCTGCTACCACAGAGG
CTCCATGATCCCCAATGGGGAGTCGGTGCACGACAGCGGGGCTATCTGCACCTGCACACATGGGAAGCTGAGCTGCATCGGAGGCCAAGCCCCCGCCCCA
GTGTGTGCTGCGCCCATGGTGTTCTTTGACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTGCCACACACTGGACATGACCT
GTTACAGCCCCCAGTGTGTGCCTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCA
CAATGAGGCCAGCTACCGGGCCGGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGTGCACAGATGACCCCTGCCTG
GCCACCTGCGCCGTGTACGGGGACGGCCACTACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTACACGCTGGTGCAGAACCACT
GTGGCGGGAAAGACAGCACCCAGGACTCCTTTCGTGTTGTCACCGAGAACGTCCCCTGCGGCACCACAGGGACCACCTGCTCCAAGGCCATCAAGATTTT
CCTGGGGTTCGAGCTGAAGCTAAGCCATGGGAAGGTGGAGGTGATCGGGACGGACGAGAGCCAGGAGGTGCCATACACCATCCGGCAGATGGGCATCTAC
CTGGTGGTGGACACCGACATTGGCCTGGTGCTGCTGTGGGACAAGAAGACCAGCATCTTCATCAACCTCAGCCCCGAGTTCAAGGGCAGGGTCTGCGGCC
TGTGTGGGAACTTCGACGACATCGCCGTTAATGACTTTGCCACGCGGAGCCGGTCTGTGGTGGGGGACGTGCTGGAGTTTGGGAACAGCTGGAAGCTCTC
CCCCTCCTGCCCAGATGCCCTGGCGCCCAAGGACCCCTGCACGGCCAACCCCTTCCGCAAGTCCTGGGCCCAGAAGCAGTGCAGCATCCTCCACGGCCCC
ACCTTCGCCGCCTGCCACGCACACGTGGAGCCGGCCAGGTACTACGAGGCCTGCGTGAACGACGCGTGCGCCTGCGACTCCGGGGGTGACTGCGAGTGCT
TCTGCACGGCTGTGGCCGCCTACGCCCAGGCCTGCCATGAAGTAGGCCTGTGTGTGTCCTGGCGGACCCCGAGCATCTGCCCTCTGTTCTGCGACTACTA
CAACCCCGAAGGCCAGTGCGAGTGGCACTACCAGCCCTGCGGGGTGCCCTGCCTGCGCACCTGCCGGAACCCCCGTGGAGACTGCCTGCGGGACGTCCGG
GGCCTGGAAGGCTGCTACCCCAAGTGCCCACCAGAGGCTCCCATCTTTGATGAGGACAAGATGCAGTGTGTGGCCACCTGCCCAACCCCGCCTCTGCCAC
CACGGTGCCACGTCCATGGGAAGTCCTACCGGCCAGGTGCAGTGGTGCCCTCGGACAAGAACTGCCAGTCCTGCCTTTGTACGGAGCGCGGCGTGGAGTG
CACCTACAAAGCTGAGGCCTGTGTCTGCACCTACAATGGACAGCGCTTCCACCCAGGGGACGTCATCTACCACACGACGGATGGCACGGGTGGCTGCATC
TCCGCCCGCTGCGGGGCCAACGGCACCATTGAGAGGAGGGTCTACCCCTGCAGCCCCACCACCCCTGTCCCCCCAACCACCTTCTCCTTCTCCACACCCC
CGCTTGTCGTGAGCTCCACGCACACCCCCAGCAATGGCCCAAGCAGCGCGCACACAGGCCCTCCGAGCAGCGCCTGGCCCACCACAGCAGGCACTTCTCC
CAGGACG


Protein Sequence     (SEQ ID NO:311):
MSVGRRKLALLWALALALACTRHTGHAQDGSSESSYKHHPALSPIARGPSGVPLRGATVFPSLRTIPVVRASNPAHNGRVCSTWGSFHYKTFDGDVFRFP
GLCNYVFSEHCGAAYEDFNIQLRRSQESAAPTLSRVLMKVDGVVIQLTKGSVLVNGHPVLLPFSQSGVLIQQSSSYTKVEARLGLVLMWNHDDSLLLELD
TKYANKTCGLCGDFNGMPVVSELLSHNTKLTPMEFGNLQKMDDPTEQCQDPVPEPPRNCSTGFGICEELLHGQLFSGCVALVDVGSYLEACRQDLCFCED
TDLLSCVCHTLAEYSRQCTHAGGLPQDWRGPDFCPQKCPNNMQYHECRSPCADTCSNQEHSRACEDHCVAGCFCPEGTVLDDIGQTGCVPVSKCACVYNG
AAYAPGATYSTDCTNCTCSGGRWSCQEVPCPGTCSVLGGAHFSTFDGKQYTVHGDCSYVLTKPCDSSAFTVLAELRRCGLTDSETCLKSVTLSLDGVQTV
VVIKASGEVFLNQIYTQLPISAANVTIFRPSTFFIIAQTSLGLQLNLQLVPTMQLFMQLAPKLRGQTCGLCGNFNSIQADDFRTLSGVVEATAAAFFNTF
KTQAACPNIRNSFEDPCSLSVENEKYAQHWCSQLTDADGPFGRCHAAVKPGTYYSNCMFDTCNCERSEDCLCAALSSYVHACAAKGVQLGGWRDGVCTKP
MTTCPKSMTYHYHVSTCQPTCRSLSEGDITCSVGFIPVDGCICPKGTFLDDTGKCVQASNCPCYHRGSMIPNGESVHDSGAICTCTHGKLSCIGGQAPAP
VCAAPMVFFDCRNATPGDTGAGCQKSCHTLDMTCYSPQCVPGCVCPDGLVADGEGGCITAEDCPCVHNEASYRAGQTIRVGCNTCTCDSRMWRCTDDPCL
ATCAVYGDGHYLTFDGQSYSFNGDCEYTLVQNHCGGKDSTQDSFRVVTENVPCGTTGTTCSKAIKIFLGFELKLSHGKVEVIGTDESQEVPYTIRQMGIY
LVVDTDIGLVLLWDKKTSIFINLSPEFKGRVCGLCGNFDDIAVNDFATRSRSVVGDVLEFGNSWKLSPSCPDALAPKDPCTANPFRKSWAQKQCSILHGP
TFAACHAHVEPARYYEACVNDACACDSGGDCECFCTAVAAYAQACHEVGLCVSWRTPSICPLFCDYYNPEGQCEWHYQPCGVPCLRTCRNPRGDCLRDVR
GLEGCYPKCPPEAPIFDEDKMQCVATCPTPPLPPRCHVHGKSYRPGAVVPSDKNCQSCLCTERGVECTYKAEACVCTYNGQRFHPGDVIYHTTDGTGGCI
SARCGANGTIERRVYPCSPTTPVPPTTFSFSTPPLVVSSTHTPSNGPSSAHTGPPSSAWPTTAGTSPRT



SNP Information


Context              (SEQ ID NO:1183):
GCTCTCCCCCTCCTGCCCAGATGCCCTGGCGCCCAAGGACCCCTGCACGGCCAACCCCTTCCGCAAGTCCTGGGCCCAGAAGCAGTGCAGCATCCTCCAC
R
GCCCCACCTTCGCCGCCTGCCACGCACACGTGGAGCCGGCCAGGTACTACGAGGCCTGCGTGAACGACGCGTGCGCCTGCGACTCCGGGGGTGACTGCGA
Celera SNP ID:                hCV25925268
SNP Position Transcript:      3295
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,20)  african american(A,1|G,35)  total(A,1|G,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 1099,(G,GGC) (S,AGC)



Context              (SEQ ID NO:1184):
ACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTGCCACACACTGGACATGACCTGTTACAGCCCCCAGTGTGTGCCTGGCTG
Y
GTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCTACCGGGCCGGCCAGA
Celera SNP ID:                hCV194953
SNP Position Transcript:      2529
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,2|C,2) ; no_pop(T,32|C,328)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 843,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1185):
CTACAACCCCGAAGGCCAGTGCGAGTGGCACTACCAGCCCTGCGGGGTGCCCTGCCTGCGCACCTGCCGGAACCCCCGTGGAGACTGCCTGCGGGACGTC
Y
GGGGCCTGGAAGGCTGCTACCCCAAGTGCCCACCAGAGGCTCCCATCTTTGATGAGGACAAGATGCAGTGTGTGGCCACCTGCCCAACCCCGCCTCTGCC
Celera SNP ID:                hCV27010159
SNP Position Transcript:      3598
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,3|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 1200,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1186):
GCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAAC
S
AGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGT
Celera SNP ID:                hCV25742276
SNP Position Transcript:      1072
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 358,(Q,CAG) (E,GAG)



Context              (SEQ ID NO:1187):
AAGGCCATCAAGATTTTCCTGGGGTTCGAGCTGAAGCTAAGCCATGGGAAGGTGGAGGTGATCGGGACGGACGAGAGCCAGGAGGTGCCATACACCATCC
R
GCAGATGGGCATCTACCTGGTGGTGGACACCGACATTGGCCTGGTGCTGCTGTGGGACAAGAAGACCAGCATCTTCATCAACCTCAGCCCCGAGTTCAAG
Celera SNP ID:                hCV27010156
SNP Position Transcript:      2984
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,7|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 995,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1188):
GCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAAC
Y
AGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGT
Celera SNP ID:                hCV11281241
SNP Position Transcript:      1072
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|T,2)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:311, 358,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:1189):
CTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCTACCGGGC
Y
GGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGTGCACAGATGACCCCTGCCTGGCCACCTGCGCCGTGTACGGGG
Celera SNP ID:                hCV25929779
SNP Position Transcript:      2622
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,2)  african american(C,20|T,6)  total(C,22|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 874,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1190):
TACTCCCGGCAGTGCACCCATGCAGGGGGGTTGCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGT
R
CCGCTCCCCCTGCGCAGACACCTGCTCCAACCAGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTT
Celera SNP ID:                hCV11281240
SNP Position Transcript:      1040
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 347,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:1191):
TGTGACAGCAGTGCCTTCACTGTACTGGCTGAGCTGCGCAGGTGCGGGCTGACGGACAGCGAGACCTGCCTGAAGAGCGTGACACTGAGCCTGGATGGGG
Y
GCAGACGGTGGTGGTGATCAAGGCCAGTGGGGAAGTGTTCCTGAACCAGATCTACACCCAGCTGCCCATCTCTGCAGCCAACGTCACCATCTTCAGACCC
Celera SNP ID:                hCV27296455
SNP Position Transcript:      1490
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,4|C,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 497,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1192):
CCTGGCGGACCCCGAGCATCTGCCCTCTGTTCTGCGACTACTACAACCCCGAAGGCCAGTGCGAGTGGCACTACCAGCCCTGCGGGGTGCCCTGCCTGCG
Y
ACCTGCCGGAACCCCCGTGGAGACTGCCTGCGGGACGTCCGGGGCCTGGAAGGCTGCTACCCCAAGTGCCCACCAGAGGCTCCCATCTTTGATGAGGACA
Celera SNP ID:                hCV27010158
SNP Position Transcript:      3558
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,4|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 1186,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1193):
TGTGGAACCACGATGACAGCCTGCTGCTGGAGCTGGACACCAAATACGCCAACAAGACCTGTGGGCTCTGTGGGGACTTCAACGGGATGCCCGTGGTCAG
S
GAGCTCCTCTCCCACAACACCAAGCTGACACCCATGGAATTCGGGAACCTGCAGAAGATGGACGACCCCACGGAGCAGTGTCAGGACCCTGTCCCTGAAC
Celera SNP ID:                hCV192738
SNP Position Transcript:      663
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,27|G,3)  african american(C,30|G,4)  total(C,57|G,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 221,(S,AGC) (R,AGG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|G,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 221,(S,AGC) (R,AGG)



Context              (SEQ ID NO:1194):
ACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTACACGCTGGTGCAGAACCACTGTGGCGGGAAAGACAGCACCCAGGACTCCTT
Y
CGTGTTGTCACCGAGAACGTCCCCTGCGGCACCACAGGGACCACCTGCTCCAAGGCCATCAAGATTTTCCTGGGGTTCGAGCTGAAGCTAAGCCATGGGA
Celera SNP ID:                hCV194950
SNP Position Transcript:      2832
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,14|C,4) ; no_pop(T,1932|C,180)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 944,(F,TTT) (F,TTC)



Context              (SEQ ID NO:1195):
CCTGCACCCGGCACACAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGT
Y
CCGCTCCGTGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCA
Celera SNP ID:                hCV25989844
SNP Position Transcript:      156
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,0)  african american(C,33|T,1)  total(C,67|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 52,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1196):
ATGAGTGTTGGCCGGAGGAAGCTGGCCCTGCTCTGGGCCCTGGCTCTCGCTCTGGCCTGCACCCGGCA
Y
ACAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGTCCCGCTCCGTGGGG
Celera SNP ID:                hCV25746854
SNP Position Transcript:      69
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,|T,)  african american(C,8|T,2)  total(C,8|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 23,(H,CAC) (H,CAT)



Context              (SEQ ID NO:1197):
CGGCACACAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGTCCCGCTCC
R
TGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCAGCTTCCAC
Celera SNP ID:                hCV25989824
SNP Position Transcript:      164
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,33)  total(A,1|G,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 55,(R,CGT) (H,CAT)



Context              (SEQ ID NO:1198):
GCACCCATGCAGGGGGGTTGCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTG
Y
GCAGACACCTGCTCCAACCAGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCC
Celera SNP ID:                hCV192732
SNP Position Transcript:      1053
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,13|T,5)  african american(C,21|T,1)  total(C,34|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 351,(C,TGC) (C,TGT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,16|C,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 351,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1199):
CCAGCTACCGGGCCGGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGTGCACAGATGACCCCTGCCTGGCCACCTG
Y
GCCGTGTACGGGGACGGCCACTACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTACACGCTGGTGCAGAACCACTGTGGCGGGA
Celera SNP ID:                hCV194952
SNP Position Transcript:      2709
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,11|T,1)  african american(C,26|T,4)  total(C,37|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 903,(C,TGC) (C,TGT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,8|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 903,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1200):
GGCCTGCACCCGGCACACAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGG
K
TCCCGCTCCGTGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGG
Celera SNP ID:                hCV25989845
SNP Position Transcript:      154
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|T,0)  african american(G,33|T,1)  total(G,67|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:311, 52,(V,GTC) (F,TTC)



Context              (SEQ ID NO:1201):
CCGGCTGTGTCCCTGTGTCAAAGTGTGCCTGCGTCTACAACGGGGCTGCCTATGCCCCAGGGGCCACCTACTCCACAGACTGCACCAACTGCACCTGCTC
Y
GGAGGCCGGTGGAGCTGCCAGGAGGTTCCATGCCCGGGTACCTGCTCTGTGCTTGGAGGTGCCCACTTCTCAACGTTTGACGGGAAGCAATACACGGTGC
Celera SNP ID:                hCV25745485
SNP Position Transcript:      1257
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|T,0)  african american(C,29|T,3)  total(C,49|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 419,(S,TCC) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,33|T,3)  total(C,69|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 419,(S,TCC) (S,TCT)



Context              (SEQ ID NO:1202):
CCATGGTGTTCTTTGACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTGCCACACACTGGACATGACCTGTTACAGCCCCCA
R
TGTGTGCCTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCT
Celera SNP ID:                hCV25930313
SNP Position Transcript:      2514
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,2)  african american(A,12|G,8)  total(A,14|G,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:311, 838,(Q,CAG) (Q,CAA)



Gene Number:                  22
Celera Gene:                  hCG1778310 - 62000133262824
Celera Transcript:            hCT2272503 - 62000133262825
Public Transcript Accession:
Celera Protein:               hCP1805521 - 197000064938162
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W6LE(799247..833941)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:51):
ATGAGTGTTGGCCGGAGGAAGCTGGCCCTGCTCTGGGCCCTGGCTCTCGCTCTGGCCTGCACCCGGCACACAGCCCCCCTCCTCTTTCTGCAGGCCATGC
CCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGTCCCGCTCCGTGGGGCGACTGTCTTC
CCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCAGCTTCCACTACAAGACCTTCGACG
GCGACGTCTTCCGCTTCCCCGGCCTCTGCAACTACGTGTTCTCCGAGCACTGCGGTGCCGCCTACGAGGATTTTAACATCCAGCTACGCCGCAGCCAGGA
GTCAGCGGCCCCCACGCTGAGCAGGGTCCTCATGAAGGTGGATGGCGTGGTCATCCAGCTGACCAAGGGCTCCGTCCTGGTCAACGGCCACCCGGTCCTG
CTGCCCTTCAGCCAGTCTGGGGTCCTCATTCAGCAGAGCAGCAGCTACACCAAGGTGGAGGCCAGGCTGGGCCTTGTCCTCATGTGGAACCACGATGACA
GCCTGCTGCTGGAGCTGGACACCAAATACGCCAACAAGACCTGTGGGCTCTGTGGGGACTTCAACGGGATGCCCGTGGTCAGCGAGCTCCTCTCCCACAA
CACCAAGCTGACACCCATGGAATTCGGGAACCTGCAGAAGATGGACGACCCCACGGAGCAGTGTCAGGACCCTGTCCCTGAACCCCCGAGGAACTGCTCC
ACTGGCTTTGGCATCTGTGAGGAGCTCCTGCACGGCCAGCTGTTCTCTGGCTGCGTGGCCCTGGTGGACGTCGGCAGCTACCTGGAGGCTTGCAGGCAAG
ACCTCTGCTTCTGTGAAGACACCGACCTGCTCAGCTGCGTCTGCCACACCCTTGCCGAGTACTCCCGGCAGTGCACCCATGCAGGGGGGTTGCCCCAGGA
CTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAACCAGGAGCAC
TCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGTGTCAAAGT
GTGCCTGCGTCTACAACGGGGCTGCCTATGCCCCAGGGGCCACCTACTCCACAGACTGCACCAACTGCACCTGCTCCGGAGGCCGGTGGAGCTGCCAGGA
GGTTCCATGCCCGGGTACCTGCTCTGTGCTTGGAGGTGCCCACTTCTCAACGTTTGACGGGAAGCAATACACGGTGCACGGCGACTGCAGCTATGTGCTG
ACCAAGCCCTGTGACAGCAGTGCCTTCACTGTACTGGCTGAGCTGCGCAGGTGCGGGCTGACGGACAGCGAGACCTGCCTGAAGAGCGTGACACTGAGCC
TGGATGGGGTGCAGACGGTGGTGGTGATCAAGGCCAGTGGGGAAGTGTTCCTGAACCAGATCTACACCCAGCTGCCCATCTCTGCAGCCAACGTCACCAT
CTTCAGACCCTCAACCTTCTTCATCATCGCCCAGACCAGCCTGGGCCTGCAGCTGAACCTGCAGCTGGTGCCCACCATGCAGCTGTTCATGCAGCTGGCG
CCCAAGCTCCGTGGGCAGACCTGCGGTCTCTGTGGGAACTTCAACAGCATCCAGGCCGATGACTTCCGGACCCTCAGTGGGGTGGTGGAGGCCACCGCTG
CGGCCTTCTTCAACACCTTCAAGACCCAGGCCGCCTGCCCCAACATCAGGAACAGCTTCGAGGACCCCTGCTCTCTGAGCGTGGAGAATGAGAAGTATGC
TCAGCACTGGTGCTCGCAGCTGACCGATGCCGACGGCCCCTTCGGCCGGTGCCATGCTGCCGTGAAGCCGGGCACCTACTACTCGAACTGCATGTTTGAC
ACCTGCAACTGTGAGCGGAGCGAGGACTGCCTGTGCGCCGCGCTGTCCTCCTACGTGCACGCCTGTGCCGCCAAGGGCGTGCAGCTCGGCGGCTGGAGGG
ACGGCGTCTGCACGAAGCCTATGACCACTTGCCCCAAGTCAATGACGTACCACTACCATGTCAGCACCTGCCAGCCCACCTGCCGCTCCCTGAGCGAGGG
GGACATCACCTGCAGTGTTGGCTTCATCCCCGTGGATGGCTGCATCTGTCCCAAGGGCACCTTCCTGGACGACACGGGCAAGTGTGTGCAGGCCAGCAAC
TGTCCCTGCTACCACAGAGGCTCCATGATCCCCAATGGGGAGTCGGTGCACGACAGCGGGGCTATCTGCACCTGCACACATGGGAAGCTGAGCTGCATCG
GAGGCCAAGCCCCCGCCCCAGTGTGTGCTGCGCCCATGGTGTTCTTTGACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTG
CCACACACTGGACATGACCTGTTACAGCCCCCAGTGTGTGCCTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCG
GAGGACTGCCCCTGCGTGCACAATGAGGCCAGCTACCGGGCCGGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGT
GCACAGATGACCCCTGCCTGGCCACCTGCGCCGTGTACGGGGACGGCCACTACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTA
CACGCTGGTGCAGAACCACTGTGGCGGGAAAGACAGCACCCAGGACTCCTTTCGTGTTGTCACCGAGAACGTCCCCTGCGGCACCACAGGGACCACCTGC
TCCAAGGCCATCAAGATTTTCCTGGGGGGCTTCGAGCTGAAGCTAAGCCATGGGAAGGTGGAGGTGATCGGGACGGACGAGAGCCAGGAGGTGCCATACA
CCATCCGGCAGATGGGCATCTACCTGGTGGTGGACACCGACATTGGCCTGGTGCTGCTGTGGGACAAGAAGACCAGCATCTTCATCAACCTCAGCCCCGA
GTTCAAGGGCAGGGTCTGCGGCCTGTGTGGGAACTTCGACGACATCGCCGTTAATGACTTTGCCACGCGGAGCCGGTCTGTGGTGGGGGACGTGCTGGAG
TTTGGGAACAGCTGGAAGCTCTCCCCCTCCTGCCCAGATGCCCTGGCGCCCAAGGACCCCTGCACGGCCAACCCCTTCCGCAAGTCCTGGGCCCAGAAGC
AGTGCAGCATCCTCCACGGCCCCACCTTCGCC


Protein Sequence     (SEQ ID NO:312):
MKVDGVVIQLTKGSVLVNGHPVLLPFSQSGVLIQQSSSYTKVEARLGLVLMWNHDDSLLLELDTKYANKTCGLCGDFNGMPVVSELLSHNTKLTPMEFGN
LQKMDDPTEQCQDPVPEPPRNCSTGFGICEELLHGQLFSGCVALVDVGSYLEACRQDLCFCEDTDLLSCVCHTLAEYSRQCTHAGGLPQDWRGPDFCPQK
CPNNMQYHECRSPCADTCSNQEHSRACEDHCVAGCFCPEGTVLDDIGQTGCVPVSKCACVYNGAAYAPGATYSTDCTNCTCSGGRWSCQEVPCPGTCSVL
GGAHFSTFDGKQYTVHGDCSYVLTKPCDSSAFTVLAELRRCGLTDSETCLKSVTLSLDGVQTVVVIKASGEVFLNQIYTQLPISAANVTIFRPSTFFIIA
QTSLGLQLNLQLVPTMQLFMQLAPKLRGQTCGLCGNFNSIQADDFRTLSGVVEATAAAFFNTFKTQAACPNIRNSFEDPCSLSVENEKYAQHWCSQLTDA
DGPFGRCHAAVKPGTYYSNCMFDTCNCERSEDCLCAALSSYVHACAAKGVQLGGWRDGVCTKPMTTCPKSMTYHYHVSTCQPTCRSLSEGDITCSVGFIP
VDGCICPKGTFLDDTGKCVQASNCPCYHRGSMIPNGESVHDSGAICTCTHGKLSCIGGQAPAPVCAAPMVFFDCRNATPGDTGAGCQKSCHTLDMTCYSP
QCVPGCVCPDGLVADGEGGCITAEDCPCVHNEASYRAGQTIRVGCNTCTCDSRMWRCTDDPCLATCAVYGDGHYLTFDGQSYSFNGDCEYTLVQNHCGGK
DSTQDSFRVVTENVPCGTTGTTCSKAIKIFLGGFELKLSHGKVEVIGTDESQEVPYTIRQMGIYLVVDTDIGLVLLWDKKTSIFINLSPEFKGRVCGLCG
NFDDIAVNDFATRSRSVVGDVLEFGNSWKLSPSCPDALAPKDPCTANPFRKSWAQKQCSILHGPTFA



SNP Information


Context              (SEQ ID NO:1203):
GCTCTCCCCCTCCTGCCCAGATGCCCTGGCGCCCAAGGACCCCTGCACGGCCAACCCCTTCCGCAAGTCCTGGGCCCAGAAGCAGTGCAGCATCCTCCAC
R
GCCCCACCTTCGCC
Celera SNP ID:                hCV25925268
SNP Position Transcript:      3318
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,20)  african american(A,1|G,35)  total(A,1|G,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 963,(G,GGC) (S,AGC)



Context              (SEQ ID NO:1204):
ACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTGCCACACACTGGACATGACCTGTTACAGCCCCCAGTGTGTGCCTGGCTG
Y
GTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCTACCGGGCCGGCCAGA
Celera SNP ID:                hCV194953
SNP Position Transcript:      2549
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,2|C,2) ; no_pop(T,32|C,328)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 706,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1205):
GCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAAC
S
AGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGT
Celera SNP ID:                hCV25742276
SNP Position Transcript:      1092
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 221,(Q,CAG) (E,GAG)



Context              (SEQ ID NO:1206):
GCCATCAAGATTTTCCTGGGGGGCTTCGAGCTGAAGCTAAGCCATGGGAAGGTGGAGGTGATCGGGACGGACGAGAGCCAGGAGGTGCCATACACCATCC
R
GCAGATGGGCATCTACCTGGTGGTGGACACCGACATTGGCCTGGTGCTGCTGTGGGACAAGAAGACCAGCATCTTCATCAACCTCAGCCCCGAGTTCAAG
Celera SNP ID:                hCV27010156
SNP Position Transcript:      3007
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,7|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 859,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1207):
GCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTGCGCAGACACCTGCTCCAAC
Y
AGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCCAGACCGGCTGTGTCCCTGT
Celera SNP ID:                hCV11281241
SNP Position Transcript:      1092
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|T,2)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:312, 221,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:1208):
CTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCTACCGGGC
Y
GGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGTGCACAGATGACCCCTGCCTGGCCACCTGCGCCGTGTACGGGG
Celera SNP ID:                hCV25929779
SNP Position Transcript:      2642
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,2)  african american(C,20|T,6)  total(C,22|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 737,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1209):
TACTCCCGGCAGTGCACCCATGCAGGGGGGTTGCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGT
R
CCGCTCCCCCTGCGCAGACACCTGCTCCAACCAGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTT
Celera SNP ID:                hCV11281240
SNP Position Transcript:      1060
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 210,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:1210):
TGTGACAGCAGTGCCTTCACTGTACTGGCTGAGCTGCGCAGGTGCGGGCTGACGGACAGCGAGACCTGCCTGAAGAGCGTGACACTGAGCCTGGATGGGG
Y
GCAGACGGTGGTGGTGATCAAGGCCAGTGGGGAAGTGTTCCTGAACCAGATCTACACCCAGCTGCCCATCTCTGCAGCCAACGTCACCATCTTCAGACCC
Celera SNP ID:                hCV27296455
SNP Position Transcript:      1510
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,4|C,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 360,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1211):
TGTGGAACCACGATGACAGCCTGCTGCTGGAGCTGGACACCAAATACGCCAACAAGACCTGTGGGCTCTGTGGGGACTTCAACGGGATGCCCGTGGTCAG
S
GAGCTCCTCTCCCACAACACCAAGCTGACACCCATGGAATTCGGGAACCTGCAGAAGATGGACGACCCCACGGAGCAGTGTCAGGACCCTGTCCCTGAAC
Celera SNP ID:                hCV192738
SNP Position Transcript:      683
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,27|G,3)  african american(C,30|G,4)  total(C,57|G,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 84,(S,AGC) (R,AGG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|G,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:312, 84,(S,AGC) (R,AGG)



Context              (SEQ ID NO:1212):
ACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTACACGCTGGTGCAGAACCACTGTGGCGGGAAAGACAGCACCCAGGACTCCTT
Y
CGTGTTGTCACCGAGAACGTCCCCTGCGGCACCACAGGGACCACCTGCTCCAAGGCCATCAAGATTTTCCTGGGGGGCTTCGAGCTGAAGCTAAGCCATG
Celera SNP ID:                hCV194950
SNP Position Transcript:      2852
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,14|C,4) ; no_pop(T,1932|C,180)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 807,(F,TTT) (F,TTC)



Context              (SEQ ID NO:1213):
CCCCTCCTCTTTCTGCAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGT
Y
CCGCTCCGTGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCA
Celera SNP ID:                hCV25989844
SNP Position Transcript:      176
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,0)  african american(C,33|T,1)  total(C,67|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:312, None



Context              (SEQ ID NO:1214):
ATGAGTGTTGGCCGGAGGAAGCTGGCCCTGCTCTGGGCCCTGGCTCTCGCTCTGGCCTGCACCCGGCA
Y
ACAGCCCCCCTCCTCTTTCTGCAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAG
Celera SNP ID:                hCV25746854
SNP Position Transcript:      69
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,|T,)  african american(C,8|T,2)  total(C,8|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:312, None



Context              (SEQ ID NO:1215):
CTTTCTGCAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGGGTCCCGCTCC
R
TGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGGCAGCTTCCAC
Celera SNP ID:                hCV25989824
SNP Position Transcript:      184
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,33)  total(A,1|G,67)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:312, None



Context              (SEQ ID NO:1216):
GCACCCATGCAGGGGGGTTGCCCCAGGACTGGCGGGGCCCTGACTTCTGCCCCCAGAAGTGCCCCAACAACATGCAGTACCACGAGTGCCGCTCCCCCTG
Y
GCAGACACCTGCTCCAACCAGGAGCACTCCCGGGCCTGTGAGGACCACTGTGTGGCCGGCTGCTTCTGCCCTGAGGGGACGGTGCTTGACGACATCGGCC
Celera SNP ID:                hCV192732
SNP Position Transcript:      1073
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,13|T,5)  african american(C,21|T,1)  total(C,34|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 214,(C,TGC) (C,TGT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,16|C,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 214,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1217):
CCAGCTACCGGGCCGGCCAGACCATCCGGGTGGGCTGCAACACCTGCACCTGTGACAGCAGGATGTGGCGGTGCACAGATGACCCCTGCCTGGCCACCTG
Y
GCCGTGTACGGGGACGGCCACTACCTCACCTTCGACGGACAGAGCTACAGCTTCAACGGAGACTGCGAGTACACGCTGGTGCAGAACCACTGTGGCGGGA
Celera SNP ID:                hCV194952
SNP Position Transcript:      2729
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,11|T,1)  african american(C,26|T,4)  total(C,37|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 766,(C,TGC) (C,TGT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,8|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 766,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1218):
CCCCCCTCCTCTTTCTGCAGGCCATGCCCAGGATGGCTCCTCCGAATCCAGCTACAAGCACCACCCTGCCCTCTCTCCTATCGCCCGGGGGCCCAGCGGG
K
TCCCGCTCCGTGGGGCGACTGTCTTCCCATCTCTGAGGACCATCCCTGTGGTACGAGCCTCCAACCCGGCGCACAACGGGCGGGTGTGCAGCACCTGGGG
Celera SNP ID:                hCV25989845
SNP Position Transcript:      174
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|T,0)  african american(G,33|T,1)  total(G,67|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:312, None



Context              (SEQ ID NO:1219):
CCGGCTGTGTCCCTGTGTCAAAGTGTGCCTGCGTCTACAACGGGGCTGCCTATGCCCCAGGGGCCACCTACTCCACAGACTGCACCAACTGCACCTGCTC
Y
GGAGGCCGGTGGAGCTGCCAGGAGGTTCCATGCCCGGGTACCTGCTCTGTGCTTGGAGGTGCCCACTTCTCAACGTTTGACGGGAAGCAATACACGGTGC
Celera SNP ID:                hCV25745485
SNP Position Transcript:      1277
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|T,0)  african american(C,29|T,3)  total(C,49|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 282,(S,TCC) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,33|T,3)  total(C,69|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 282,(S,TCC) (S,TCT)



Context              (SEQ ID NO:1220):
CCATGGTGTTCTTTGACTGCCGAAATGCCACGCCCGGGGACACAGGGGCTGGCTGTCAGAAGAGCTGCCACACACTGGACATGACCTGTTACAGCCCCCA
R
TGTGTGCCTGGCTGCGTGTGCCCCGACGGGCTGGTGGCGGACGGCGAGGGCGGCTGCATCACTGCGGAGGACTGCCCCTGCGTGCACAATGAGGCCAGCT
Celera SNP ID:                hCV25930313
SNP Position Transcript:      2534
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,2)  african american(A,12|G,8)  total(A,14|G,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:312, 701,(Q,CAG) (Q,CAA)



Gene Number:                  23
Celera Gene:                  hCG1993438 - 62000133262922
Celera Transcript:            hCT2272505 - 62000133262923
Public Transcript Accession:
Celera Protein:               hCP1805525 - 197000064938166
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W6LE(825041..846259)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:52):
AGGAGATCACCAGGCTCCAGTGCCGAGCCGAGAGCCACCCGGAGGTGAACATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGT
GTGCCGGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTACGAGGTGCGCGTGCTCTGCTGCGAGACCCCCAGAGGCTGCCCGGTGACCTCT
GTGACCCCATATGGGACTTCTCCTACCAATGCTCTGTATCCTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGTGGCATCCAGCT
CTGTGGCATCCAGCTCTGTGGCTTACTCCACCCAAACCTGCTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACCGCCACAGAGA
CCTCGCTGGCCATTGCTATTATGCCCTGTGTAGCCAGGACTGCCAAGTGGTCAGAGGGGTTGACAGTGACTGTCCGTCCACCACGCTGCCTCCTGCCCCA
GCCACGTCCCCTTCAATATCCACCTCCGAGCCCGTCACTGAGCTGGGATGCCCAAATGCGGTTCCCCCCAGAAAGAAAGGTGAGACCTGGGCCACACCCA
ACTGCTCCGAGGCCACCTGTGAGGGCAACAACGTCATCTCCCTGCGCCCGCGCACGTGCCCGAGGGTGGAGAAGCCCACTTGTGCCAACGGCTACCCGGC
TGTGAAGGTGGCTGACCAAGATGGCTGCTGCCATCACTACCAGTGCCAGTGTGTGTGCAGCGGCTGGGGTGACCCCCACTACATCACCTTCGACGGCACC
TACTACACCTTCCTGGACAACTGCACGTACGTGCTGGTGCAGCAGATTGTGCCCGTGTATGGCCACTTCCGCGTGCTCGTCGACAACTACTTCTGCGGTG
CGGAGGACGGGCTCTCCTGCCCGAGGTCCATCATCCTGGAGTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGACGAACGA
GATCATCTTCAACAACAAGGTGGTCAGCCCCGGCTTCCGGAAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGGAGCTG
GGAGTCCAGGTCATGTTCTCCGGCCTCATCTTCTCCGTGGAGGTGCCCTTCAGCAAGTTTGCCAACAACACCGAGGGCCAGTGCGGCACTTGCACCAACG
ACAGGAAGGATGAGTGCCGCACGCCTAGGGGGACGGTGGTCGCTTCCTGCTCCGAGATGTCCGGCCTCTGGAACGTGAGCATCCCTGACCAGCCAGCCTG
CCACCGGCCTCACCCGACGCCCACCACGGTCGGGCCCACCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACC
ACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCAGCTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATG
AGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGGATGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTGTGCGTCCCACGACATCTGCAT
CGATTGGAGAGGCCGGACCGGCCACATGTGCCCATTCACCTGCCCAGCCGACAAGGTGTACCAGCCCTGCGGCCCGAGCAACCCCTCCTACTGCTACGGG
AATGACAGCGCCAGCCTCGGGGCTCTGCCGGAGGCCGGCCCCATCACCGAAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAG
TCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGA
GGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCC
GGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCCGCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGG
AGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGA
AACCTGCAGGTGTGAGCTGCCGGGTGGCCCCCCATCGGACGCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAG
TACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCCTGGCGAGA
CCTGGTCAGACGCAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAG
CTGTTCTCTGGACGAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTAC
CATAGGAGCCTGATCATCCAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTGGCTTACTGCCGGGGGAACTGTGGGGACAGCTCTTCCATGTACT
CGCTCGAGGGCAACACGGTGGAGCACAGGTGCCAGTGCTGCCAGGAGCTGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCG
GGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCC
AGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCC
ATATGTCCTCTGAGCTCGGCTTCCAAGGCCAGTGGAACTTGTGCCCCTGTCCAGGCGGCTGCAGCTTTGAACACACTGTCCACGCCCGCTTTCTTGTGGA
GGGTGTGGGCTATGGGTCACCTGCTGCCTGGAGGAGGGGCCCTTACCCACCCCGCCTGCAGCCACCTCTCAGGACCAGCCCCGGGGCTGGCCGAGCTCCT
CTGGCCATGCATCCAGCCTGCTGTTCTGGGGACGTGAGCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAG
GAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA


Protein Sequence     (SEQ ID NO:313):
MCLNYEVRVLCCETPRGCPVTSVTPYGTSPTNALYPSLSTSMVSASVASTSVASSSVASSSVAYSTQTCFCNVADRLYPAGSTIYRHRDLAGHCYYALCS
QDCQVVRGVDSDCPSTTLPPAPATSPSISTSEPVTELGCPNAVPPRKKGETWATPNCSEATCEGNNVISLRPRTCPRVEKPTCANGYPAVKVADQDGCCH
HYQCQCVCSGWGDPHYITFDGTYYTFLDNCTYVLVQQIVPVYGHFRVLVDNYFCGAEDGLSCPRSIILEYHQDRVVLTRKPVHGVMTNEIIFNNKVVSPG
FRKNGIVVSRIGVKMYATIPELGVQVMFSGLIFSVEVPFSKFANNTEGQCGTCTNDRKDECRTPRGTVVASCSEMSGLWNVSIPDQPACHRPHPTPTTVG
PTTVGSTTVGPTTVGSTTVGPTTPPAPCLPSPICQLILSKVFEPCHTVIPPLLFYEGCVFDRCHMTDLDVVCSSLELYAALCASHDICIDWRGRTGHMCP
FTCPADKVYQPCGPSNPSYCYGNDSASLGALPEAGPITEGCFCPEGMTLFSTSAQVCVPTGCPRCLGPHGEPVKVGHTVGMDCQECTCEAATWTLTCRPK
LCPLPPACPLPGFVPVPAAPQAGQCCPQYSCACNTSRCPAPVGCPEGARAIPTYQEGACCPVQNCSWTVCSINGTLYQPGAVVSSSLCETCRCELPGGPP
SDAFVVSCETQICNTHCPVGFEYQEQSGQCCGTCVQVACVTNTSKSPAHLFYPGETWSDAGNHCVTHQCEKHQDGLVVVTTKKACPPLSCSLDEARMSKD
GCCRFCPPPPPPYQNQSTCAVYHRSLIIQQQGCSSSEPVRLAYCRGNCGDSSSMYSLEGNTVEHRCQCCQELRTSLRNVTLHCTDGSSRAFSYTEVEECG
CMGRRCPAPGDTQHSEEAEPEPSQEAESGSWERGVPVSPMH*



SNP Information


Context              (SEQ ID NO:1221):
AAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCC
R
GTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCC
Celera SNP ID:                hCV1839385
SNP Position Transcript:      1850
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,24)  african american(A,14|G,10)  total(A,26|G,34)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 572,(P,CCG) (P,CCA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,8|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 572,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1222):
GCGGTGCGGAGGACGGGCTCTCCTGCCCGAGGTCCATCATCCTGGAGTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGAC
R
AACGAGATCATCTTCAACAACAAGGTGGTCAGCCCCGGCTTCCGGAAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGG
Celera SNP ID:                hCV1839381
SNP Position Transcript:      995
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,1)  african american(A,8|G,16)  total(A,9|G,17)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 287,(T,ACG) (T,ACA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,10|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 287,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1223):
CTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCC
S
GCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCA
Celera SNP ID:                hCV1839392
SNP Position Transcript:      2051
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 639,(P,CCC) (P,CCG)



Context              (SEQ ID NO:1224):
ACCAGCCAGCCTGCCACCGGCCTCACCCGACGCCCACCACGGTCGGGCCCACCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCAC
S
GTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCAGCTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCAC
Celera SNP ID:                hCV25926747
SNP Position Transcript:      1388
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,2)  african american(C,5|G,17)  total(C,9|G,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 418,(T,ACC) (T,ACG)



Context              (SEQ ID NO:1225):
CTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCG
R
AGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTG
Celera SNP ID:                hCV7468829
SNP Position Transcript:      2880
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 916,(E,GAG) (K,AAG)



Context              (SEQ ID NO:1226):
TGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCC
R
CGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAA
Celera SNP ID:                hCV1839393
SNP Position Transcript:      2052
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 640,(A,GCG) (T,ACG)



Context              (SEQ ID NO:1227):
TGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCG
S
TGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCC
Celera SNP ID:                hCV1839406
SNP Position Transcript:      2849
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|G,12)  african american(C,14|G,22)  total(C,34|G,34)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 905,(R,CGG) (R,CGC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,978|C,1638) ; no_pop(G,20|C,10) ; no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 905,(R,CGG) (R,CGC)



Context              (SEQ ID NO:1228):
CAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGA
Y
GAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGA
Celera SNP ID:                hCV7468825
SNP Position Transcript:      2513
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,6)  african american(C,20|T,0)  total(C,46|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 793,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1229):
GCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCCG
M
GCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAAC
Celera SNP ID:                hCV1839394
SNP Position Transcript:      2053
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 640,(A,GCG) (E,GAG)



Context              (SEQ ID NO:1230):
CCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCA
S
CTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGG
Celera SNP ID:                hCV7468824
SNP Position Transcript:      1439
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,0)  african american(C,6|G,14)  total(C,10|G,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 435,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:1231):
TCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGGATGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTG
Y
GCGTCCCACGACATCTGCATCGATTGGAGAGGCCGGACCGGCCACATGTGCCCATTCACCTGCCCAGCCGACAAGGTGTACCAGCCCTGCGGCCCGAGCA
Celera SNP ID:                hCV11281271
SNP Position Transcript:      1580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|T,20)  african american(C,17|T,7)  total(C,31|T,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 482,(C,TGT) (C,TGC)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,4|C,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 482,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1232):
TGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGAAACCTGCAGGTGTGAGCTGCCGGGTGGCCCCCCATCGGA
Y
GCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGC
Celera SNP ID:                hCV1839396
SNP Position Transcript:      2240
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,19|T,3)  african american(C,9|T,1)  total(C,28|T,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 702,(D,GAC) (D,GAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 702,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1233):
GCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCC
Y
GGCGAGACCTGGTCAGACGCAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCC
Celera SNP ID:                hCV26650352
SNP Position Transcript:      2393
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,5|C,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 753,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1234):
GCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGT
Y
GGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCT
Celera SNP ID:                hCV1839389
SNP Position Transcript:      1871
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,4)  african american(C,28|T,4)  total(C,52|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 579,(V,GTC) (V,GTT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,16|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 579,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1235):
GGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGACGAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGC
Y
GCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGATCATCCAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTG
Celera SNP ID:                hCV1839400
SNP Position Transcript:      2557
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,12|T,22)  african american(C,12|T,10)  total(C,24|T,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 808,(P,CCG) (L,CTG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:313, 808,(P,CCG) (L,CTG)



Context              (SEQ ID NO:1236):
CGGTGACCTCTGTGACCCCATATGGGACTTCTCCTACCAATGCTCTGTATCCTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGT
R
GCATCCAGCTCTGTGGCATCCAGCTCTGTGGCTTACTCCACCCAAACCTGCTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACC
Celera SNP ID:                hCV25929946
SNP Position Transcript:      290
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,27)  african american(A,0|G,34)  total(A,1|G,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:313, 52,(V,GTG) (V,GTA)



Context              (SEQ ID NO:1237):
GTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCCATATGTCCTCTGAGCT
Y
GGCTTCCAAGGCCAGTGGAACTTGTGCCCCTGTCCAGGCGGCTGCAGCTTTGAACACACTGTCCACGCCCGCTTTCTTGTGGAGGGTGTGGGCTATGGGT
Celera SNP ID:                hCV1839407
SNP Position Transcript:      3017
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,27|T,1)  african american(C,28|T,4)  total(C,55|T,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:313, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,14)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:313, None



Context              (SEQ ID NO:1238):
GCATCCAGCCTGCTGTTCTGGGGACGTGAGCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGA
M
CCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV1839408
SNP Position Transcript:      3309
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,8|C,6) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:313, None



Context              (SEQ ID NO:1239):
GGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACA
Y
GGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV1839409
SNP Position Transcript:      3357
SNP Source:                   Celera; Nickerson
Population(Allele,Count):     no_pop(C,7|T,6) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:313, None



Context              (SEQ ID NO:1240):
ACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCA
R
TCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV26650294
SNP Position Transcript:      3363
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,7|G,6) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:313, None



Context              (SEQ ID NO:1241):
AGGAGATCACCAGGCTCCAGTGCCGAGCCGAGAGCCACCCGGAGGTGA
R
CATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGTGTGCCGGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTAC
Celera SNP ID:                hCV25931113
SNP Position Transcript:      49
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,0)  african american(A,29|G,1)  total(A,47|G,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:313, None



Gene Number:                  23
Celera Gene:                  hCG1993438 - 62000133262922
Celera Transcript:            hCT2272506 - 62000133263062
Public Transcript Accession:
Celera Protein:               hCP1805528 - 197000064938169
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W6LE(825041..846259)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:53):
AAGACAACCCACTCCCAACCAGTCACCAGTGACTGTCATCCTCTGTGCGCCTGGACAAAGTGGTTCGACGTGGACTTCCCATCCCCTGGACCCCACGGCG
GGGACAAGGAAACCTACAACAACATCATCAGGAGTGGGGAAAAAATCTGCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCGAGAGCCACCC
GGAGGTGAACATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGTGTGCCGGAACCAGGACCAGCAGGGACCCTTCAAGATGTGC
CTCAACTACGAGGTGCGCGTGCTCTGCTGCGAGACCCCCAGAGGCTGCCCGGTGACCTCTGTGACCCCATATGGGACTTCTCCTACCAATGCTCTGTATC
CTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGTGGCATCCAGCTCTGTGGCATCCAGCTCTGTGGCTTACTCCACCCAAACCTG
CTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACCGCCACAGAGACCTCGCTGGCCATTGCTATTATGCCCTGTGTAGCCAGGAC
TGCCAAGTGGTCAGAGGGGTTGACAGTGACTGTCCGTCCACCACGCTGCCTCCTGCCCCAGCCACGTCCCCTTCAATATCCACCTCCGAGCCCGTCACTG
AGCTGGGATGCCCAAATGCGGTTCCCCCCAGAAAGAAAGGTGAGACCTGGGCCACACCCAACTGCTCCGAGGCCACCTGTGAGGGCAACAACGTCATCTC
CCTGCGCCCGCGCACGTGCCCGAGGGTGGAGAAGCCCACTTGTGCCAACGGCTACCCGGCTGTGAAGGTGGCTGACCAAGATGGCTGCTGCCATCACTAC
CAGTGCCAGTGTGTGTGCAGCGGCTGGGGTGACCCCCACTACATCACCTTCGACGGCACCTACTACACCTTCCTGGACAACTGCACGTACGTGCTGGTGC
AGCAGATTGTGCCCGTGTATGGCCACTTCCGCGTGCTCGTCGACAACTACTTCTGCGGTGCGGAGGACGGGCTCTCCTGCCCGAGGTCCATCATCCTGGA
GTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGACGAACGAGATCATCTTCAACAACAAGGTGGTCAGCCCCGGCTTCCGG
AAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGGAGCTGGGAGTCCAGGTCATGTTCTCCGGCCTCATCTTCTCCGTGG
AGGTGCCCTTCAGCAAGTTTGCCAACAACACCGAGGGCCAGTGCGGCACTTGCACCAACGACAGGAAGGATGAGTGCCGCACGCCTAGGGGGACGGTGGT
CGCTTCCTGCTCCGAGATGTCCGGCCTCTGGAACGTGAGCATCCCTGACCAGCCAGCCTGCCACCGGCCTCACCCGACGCCCACCACGGTCGGGCCCACC
ACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCAGC
TGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGGA
TGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTGTGCGTCCCACGACATCTGCATCGATTGGAGAGGCCGGACCGGCCACATGTGCCGTGTGGCT
TCCCCTCCCCACAGCATTCACCTGCCCAGCCGACAAGGTGTACCAGCCCTGCGGCCCGAGCAACCCCTCCTACTGCTACGGGAATGACAGCGCCAGCCTC
GGGGCTCTGCCGGAGGCCGGCCCCATCACCGAAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCT
GCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCT
GACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAG
TACAGCTGCGCCTGCAACACCAGCCGCTGCCCCGCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAG
TCCAAAACTGCAGCTGGACAGTGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGAAACCTGCAGGTGTGAGCT
GCCGGGTGGCCCCCCATCGGACGCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAGTACCAGGAGCAGAGCGGG
CAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCCTGGCGAGACCTGGTCAGACGCAGGGA
ACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGACGAGGC
CCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGATCATC
CAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTGGCTTACTGCCGGGGGAACTGTGGGGACAGCTCTTCCATGTACTCGCTCGAGGGCAACACGG
TGGAGCACAGGTGCCAGTGCTGCCAGGAGCTGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGA
GGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGT
GGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCCATATGTCCTCTGAGCTCG
GCTTCCAAGGCCAGTGGAACTTGTGCCCCTCTCAGGACCAGCCCCGGGGCTGGCCGAGCTCCTCTGGCCATGCATCCAGCCTGCTGTTCTGGGGACGTGA
GCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTG
CGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGC


Protein Sequence     (SEQ ID NO:314):
MCLNYEVRVLCCETPRGCPVTSVTPYGTSPTNALYPSLSTSMVSASVASTSVASSSVASSSVAYSTQTCFCNVADRLYPAGSTIYRHRDLAGHCYYALCS
QDCQVVRGVDSDCPSTTLPPAPATSPSISTSEPVTELGCPNAVPPRKKGETWATPNCSEATCEGNNVISLRPRTCPRVEKPTCANGYPAVKVADQDGCCH
HYQCQCVCSGWGDPHYITFDGTYYTFLDNCTYVLVQQIVPVYGHFRVLVDNYFCGAEDGLSCPRSIILEYHQDRVVLTRKPVHGVMTNEIIFNNKVVSPG
FRKNGIVVSRIGVKMYATIPELGVQVMFSGLIFSVEVPFSKFANNTEGQCGTCTNDRKDECRTPRGTVVASCSEMSGLWNVSIPDQPACHRPHPTPTTVG
PTTVGSTTVGPTTVGSTTVGPTTPPAPCLPSPICQLILSKVFEPCHTVIPPLLFYEGCVFDRCHMTDLDVVCSSLELYAALCASHDICIDWRGRTGHMCR
VASPPHSIHLPSRQGVPALRPEQPLLLLRE*



SNP Information


Context              (SEQ ID NO:1242):
GCGGTGCGGAGGACGGGCTCTCCTGCCCGAGGTCCATCATCCTGGAGTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGAC
R
AACGAGATCATCTTCAACAACAAGGTGGTCAGCCCCGGCTTCCGGAAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGG
Celera SNP ID:                hCV1839381
SNP Position Transcript:      1155
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,1)  african american(A,8|G,16)  total(A,9|G,17)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 287,(T,ACG) (T,ACA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,10|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 287,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1243):
ACCAGCCAGCCTGCCACCGGCCTCACCCGACGCCCACCACGGTCGGGCCCACCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCAC
S
GTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCAGCTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCAC
Celera SNP ID:                hCV25926747
SNP Position Transcript:      1548
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,2)  african american(C,5|G,17)  total(C,9|G,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 418,(T,ACC) (T,ACG)



Context              (SEQ ID NO:1244):
CCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCA
S
CTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGG
Celera SNP ID:                hCV7468824
SNP Position Transcript:      1599
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,0)  african american(C,6|G,14)  total(C,10|G,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:314, 435,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:1245):
TCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGGATGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTG
Y
GCGTCCCACGACATCTGCATCGATTGGAGAGGCCGGACCGGCCACATGTGCCGTGTGGCTTCCCCTCCCCACAGCATTCACCTGCCCAGCCGACAAGGTG
Celera SNP ID:                hCV11281271
SNP Position Transcript:      1740
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|T,20)  african american(C,17|T,7)  total(C,31|T,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 482,(C,TGT) (C,TGC)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,4|C,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 482,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1246):
CGGTGACCTCTGTGACCCCATATGGGACTTCTCCTACCAATGCTCTGTATCCTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGT
R
GCATCCAGCTCTGTGGCATCCAGCTCTGTGGCTTACTCCACCCAAACCTGCTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACC
Celera SNP ID:                hCV25929946
SNP Position Transcript:      450
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,27)  african american(A,0|G,34)  total(A,1|G,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:314, 52,(V,GTG) (V,GTA)



Context              (SEQ ID NO:1247):
AAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCC
R
GTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCC
Celera SNP ID:                hCV1839385
SNP Position Transcript:      2032
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,24)  african american(A,14|G,10)  total(A,26|G,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,8|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1248):
GCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGT
Y
GGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCT
Celera SNP ID:                hCV1839389
SNP Position Transcript:      2053
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,4)  african american(C,28|T,4)  total(C,52|T,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,16|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1249):
CTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCC
S
GCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCA
Celera SNP ID:                hCV1839392
SNP Position Transcript:      2233
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|G,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1250):
TGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCC
R
CGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAA
Celera SNP ID:                hCV1839393
SNP Position Transcript:      2234
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1251):
GCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCCG
M
GCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAAC
Celera SNP ID:                hCV1839394
SNP Position Transcript:      2235
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1252):
TGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGAAACCTGCAGGTGTGAGCTGCCGGGTGGCCCCCCATCGGA
Y
GCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGC
Celera SNP ID:                hCV1839396
SNP Position Transcript:      2422
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,19|T,3)  african american(C,9|T,1)  total(C,28|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1253):
GCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCC
Y
GGCGAGACCTGGTCAGACGCAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCC
Celera SNP ID:                hCV26650352
SNP Position Transcript:      2575
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,5|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1254):
CAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGA
Y
GAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGA
Celera SNP ID:                hCV7468825
SNP Position Transcript:      2695
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,6)  african american(C,20|T,0)  total(C,46|T,6)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1255):
GGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGACGAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGC
Y
GCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGATCATCCAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTG
Celera SNP ID:                hCV1839400
SNP Position Transcript:      2739
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,12|T,22)  african american(C,12|T,10)  total(C,24|T,32)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1256):
TGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCG
S
TGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCC
Celera SNP ID:                hCV1839406
SNP Position Transcript:      3031
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|G,12)  african american(C,14|G,22)  total(C,34|G,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,978|C,1638) ; no_pop(G,20|C,10) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1257):
CTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCG
R
AGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTG
Celera SNP ID:                hCV7468829
SNP Position Transcript:      3062
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1258):
GTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCCATATGTCCTCTGAGCT
Y
GGCTTCCAAGGCCAGTGGAACTTGTGCCCCTCTCAGGACCAGCCCCGGGGCTGGCCGAGCTCCTCTGGCCATGCATCCAGCCTGCTGTTCTGGGGACGTG
Celera SNP ID:                hCV1839407
SNP Position Transcript:      3199
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,27|T,1)  african american(C,28|T,4)  total(C,55|T,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,14)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1259):
GCATCCAGCCTGCTGTTCTGGGGACGTGAGCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGA
M
CCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGC
Celera SNP ID:                hCV1839408
SNP Position Transcript:      3372
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,8|C,6) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1260):
GGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACA
Y
GGCCAATCTGTTGCATAAATACACTTGAGCATTTTGC
Celera SNP ID:                hCV1839409
SNP Position Transcript:      3420
SNP Source:                   Celera; Nickerson
Population(Allele,Count):     no_pop(C,7|T,6) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1261):
ACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCA
R
TCTGTTGCATAAATACACTTGAGCATTTTGC
Celera SNP ID:                hCV26650294
SNP Position Transcript:      3426
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,7|G,6) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:314, None



Context              (SEQ ID NO:1262):
GAAACCTACAACAACATCATCAGGAGTGGGGAAAAAATCTGCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCGAGAGCCACCCGGAGGTGA
R
CATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGTGTGCCGGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTAC
Celera SNP ID:                hCV25931113
SNP Position Transcript:      209
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,0)  african american(A,29|G,1)  total(A,47|G,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:314, None



Gene Number:                  23
Celera Gene:                  hCG1993438 - 62000133262922
Celera Transcript:            hCT2272507 - 62000133263086
Public Transcript Accession:
Celera Protein:               hCP1805529 - 197000064938170
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W6LE(825041..846259)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:54):
ACCACCAGCACAACCTCTGCTCCTACAACCAGCACGACCTCTGGTCCTGGAACTACTCCCAGCCCCGTTCCCACCACCAGCACAACCCCTGTTTCAAAGA
CCAGCACAAGCCATCTTTCTGTATCCAAGACAACCCACTCCCAACCAGTCACCAGTGACTGTCATCCTCTGTGCGCCTGGACAAAGTGGTTCGACGTGGA
CTTCCCATCCCCTGGACCCCACGGCGGGGACAAGGAAACCTACAACAACATCATCAGGAGTGGGGAAAAAATCTGCCGCCGACCTGAGGAGATCACCAGG
CTCCAGTGCCGAGCCGAGAGCCACCCGGAGGTGAACATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGTGTGCCGGAACCAGG
ACCAGCAGGGACCCTTCAAGATGTGCCTCAACTACGAGGTGCGCGTGCTCTGCTGCGAGACCCCCAGAGGCTGCCCGGTGACCTCTGTGACCCCATATGG
GACTTCTCCTACCAATGCTCTGTATCCTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGTGGCATCCAGCTCTGTGGCATCCAGC
TCTGTGGCTTACTCCACCCAAACCTGCTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACCGCCACAGAGACCTCGCTGGCCATT
GCTATTATGCCCTGTGTAGCCAGGACTGCCAAGTGGTCAGAGGGGTTGACAGTGACTGTCCGTCCACCACGCTGCCTCCTGCCCCAGCCACGTCCCCTTC
AATATCCACCTCCGAGCCCGTCACTGAGCTGGGATGCCCAAATGCGGTTCCCCCCAGAAAGAAAGGTGAGACCTGGGCCACACCCAACTGCTCCGAGGCC
ACCTGTGAGGGCAACAACGTCATCTCCCTGCGCCCGCGCACGTGCCCGAGGGTGGAGAAGCCCACTTGTGCCAACGGCTACCCGGCTGTGAAGGTGGCTG
ACCAAGATGGCTGCTGCCATCACTACCAGTGCCAGTGTGTGTGCAGCGGCTGGGGTGACCCCCACTACATCACCTTCGACGGCACCTACTACACCTTCCT
GGACAACTGCACGTACGTGCTGGTGCAGCAGATTGTGCCCGTGTATGGCCACTTCCGCGTGCTCGTCGACAACTACTTCTGCGGTGCGGAGGACGGGCTC
TCCTGCCCGAGGTCCATCATCCTGGAGTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGACGAACGAGATCATCTTCAACA
ACAAGGTGGTCAGCCCCGGCTTCCGGAAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGGAGCTGGGAGTCCAGGTCAT
GTTCTCCGGCCTCATCTTCTCCGTGGAGGTGCCCTTCAGCAAGTTTGCCAACAACACCGAGGGCCAGTGCGGCACTTGCACCAACGACAGGAAGGATGAG
TGCCGCACGCCTAGGGGGACGGTGGTCGCTTCCTGCTCCGAGATGTCCGGCCTCTGGAACGTGAGCATCCCTGACCAGCCAGCCTGCCACCGGCCTCACC
CGACGCCCACCACGGTCGGGCCCACCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACCACACCGCCTGCTCC
GTGCCTGCCATCACCCATCTGCCAGCTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTT
GACCGGTGCCACATGACGGACCTGGATGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTGTGCGTCCCACGACATCTGCATCGATTGGAGAGGCC
GGACCGGCCACATGTGCCCATTCACCTGCCCAGCCGACAAGGTGTACCAGCCCTGCGGCCCGAGCAACCCCTCCTACTGCTACGGGAATGACAGCGCCAG
CCTCGGGGCTCTGCCGGAGGCCGGCCCCATCACCGAAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACG
GGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGA
CGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCC
CCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCCGCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGC
CCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGAAACCTGCAGGTGTG
AGCTGCCGGGTGGCCCCCCATCGGACGCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAGTACCAGGAGCAGAG
CGGGCAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCCTGGCGAGACCTGGTCAGACGCA
GGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGACG
AGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGAT
CATCCAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTGGCTTACTGCCGGGGGAACTGTGGGGACAGCTCTTCCATGTACTCGCTCGAGGGCAAC
ACGGTGGAGCACAGGTGCCAGTGCTGCCAGGAGCTGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACA
CCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGA
GAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCCATATGTCCTCTGAG
CTCGGCTTCCAAGGCCAGTGGAACTTGTGCCCCTGTCCAGGCGGCTGCAGCTTTGAACACACTGTCCACGCCCGCTTTCTTGTGGAGGGTGTGGGCTATG
GGTCACCTGCTGCCTGGAGGAGGGGCCCTTACCCACCCCGCCTGCAGCCACCTCTCAGGACCAGCCCCGGGGCTGGCCGAGCTCCTCTGGCCATGCATCC
AGCCTGCTGTTCTGGGGACGTGAGCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCA
CTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA


Protein Sequence     (SEQ ID NO:315):
MCLNYEVRVLCCETPRGCPVTSVTPYGTSPTNALYPSLSTSMVSASVASTSVASSSVASSSVAYSTQTCFCNVADRLYPAGSTIYRHRDLAGHCYYALCS
QDCQVVRGVDSDCPSTTLPPAPATSPSISTSEPVTELGCPNAVPPRKKGETWATPNCSEATCEGNNVISLRPRTCPRVEKPTCANGYPAVKVADQDGCCH
HYQCQCVCSGWGDPHYITFDGTYYTFLDNCTYVLVQQIVPVYGHFRVLVDNYFCGAEDGLSCPRSIILEYHQDRVVLTRKPVHGVMTNEIIFNNKVVSPG
FRKNGIVVSRIGVKMYATIPELGVQVMFSGLIFSVEVPFSKFANNTEGQCGTCTNDRKDECRTPRGTVVASCSEMSGLWNVSIPDQPACHRPHPTPTTVG
PTTVGSTTVGPTTVGSTTVGPTTPPAPCLPSPICQLILSKVFEPCHTVIPPLLFYEGCVFDRCHMTDLDVVCSSLELYAALCASHDICIDWRGRTGHMCP
FTCPADKVYQPCGPSNPSYCYGNDSASLGALPEAGPITEGCFCPEGMTLFSTSAQVCVPTGCPRCLGPHGEPVKVGHTVGMDCQECTCEAATWTLTCRPK
LCPLPPACPLPGFVPVPAAPQAGQCCPQYSCACNTSRCPAPVGCPEGARAIPTYQEGACCPVQNCSWTVCSINGTLYQPGAVVSSSLCETCRCELPGGPP
SDAFVVSCETQICNTHCPVGFEYQEQSGQCCGTCVQVACVTNTSKSPAHLFYPGETWSDAGNHCVTHQCEKHQDGLVVVTTKKACPPLSCSLDEARMSKD
GCCRFCPPPPPPYQNQSTCAVYHRSLIIQQQGCSSSEPVRLAYCRGNCGDSSSMYSLEGNTVEHRCQCCQELRTSLRNVTLHCTDGSSRAFSYTEVEECG
CMGRRCPAPGDTQHSEEAEPEPSQEAESGSWERGVPVSPMH*



SNP Information


Context              (SEQ ID NO:1263):
AAGGCTGCTTCTGTCCGGAGGGCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCC
R
GTGAAGGTGGGCCACACCGTCGGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCC
Celera SNP ID:                hCV1839385
SNP Position Transcript:      2136
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,24)  african american(A,14|G,10)  total(A,26|G,34)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 572,(P,CCG) (P,CCA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,8|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 572,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1264):
GCGGTGCGGAGGACGGGCTCTCCTGCCCGAGGTCCATCATCCTGGAGTACCACCAGGACCGCGTGGTGCTGACCCGCAAGCCAGTCCACGGGGTGATGAC
R
AACGAGATCATCTTCAACAACAAGGTGGTCAGCCCCGGCTTCCGGAAAAACGGCATCGTGGTCTCGCGCATCGGCGTCAAGATGTACGCGACCATCCCGG
Celera SNP ID:                hCV1839381
SNP Position Transcript:      1281
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,1)  african american(A,8|G,16)  total(A,9|G,17)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 287,(T,ACG) (T,ACA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,10|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 287,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1265):
CTGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCC
S
GCGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCA
Celera SNP ID:                hCV1839392
SNP Position Transcript:      2337
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 639,(P,CCC) (P,CCG)



Context              (SEQ ID NO:1266):
ACCAGCCAGCCTGCCACCGGCCTCACCCGACGCCCACCACGGTCGGGCCCACCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCAC
S
GTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCAGCTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCAC
Celera SNP ID:                hCV25926747
SNP Position Transcript:      1674
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,2)  african american(C,5|G,17)  total(C,9|G,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 418,(T,ACC) (T,ACG)



Context              (SEQ ID NO:1267):
CTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCGGTGCCCTGCGCCGGGCGACACCCAGCACTCG
R
AGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTG
Celera SNP ID:                hCV7468829
SNP Position Transcript:      3166
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 916,(E,GAG) (K,AAG)



Context              (SEQ ID NO:1268):
TGCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCC
R
CGCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAA
Celera SNP ID:                hCV1839393
SNP Position Transcript:      2338
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 640,(A,GCG) (T,ACG)



Context              (SEQ ID NO:1269):
TGCGGACCTCGCTGAGGAATGTGACCCTGCACTGCACCGACGGCTCCAGCCGGGCCTTCAGCTACACCGAGGTGGAAGAGTGCGGCTGCATGGGCCGGCG
S
TGCCCTGCGCCGGGCGACACCCAGCACTCGGAGGAGGCGGAACCCGAGCCCAGCCAGGAGGCAGAGAGTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCC
Celera SNP ID:                hCV1839406
SNP Position Transcript:      3135
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|G,12)  african american(C,14|G,22)  total(C,34|G,34)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 905,(R,CGG) (R,CGC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,978|C,1638) ; no_pop(G,20|C,10) ; no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 905,(R,CGG) (R,CGC)



Context              (SEQ ID NO:1270):
CAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGA
Y
GAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGCCGCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGA
Celera SNP ID:                hCV7468825
SNP Position Transcript:      2799
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,6)  african american(C,20|T,0)  total(C,46|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 793,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1271):
GCCTGCCCCCTGCCCGGCTTCGTGCCTGTGCCTGCAGCCCCACAGGCCGGCCAGTGCTGCCCCCAGTACAGCTGCGCCTGCAACACCAGCCGCTGCCCCG
M
GCCCGTGGGCTGTCCTGAGGGCGCCCGCGCGATCCCGACCTACCAGGAGGGGGCCTGCTGCCCAGTCCAAAACTGCAGCTGGACAGTGTGCAGCATCAAC
Celera SNP ID:                hCV1839394
SNP Position Transcript:      2339
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 640,(A,GCG) (E,GAG)



Context              (SEQ ID NO:1272):
CCACAGTTGGGTCTACCACGGTCGGGCCCACCACAGTTGGGTCTACCACCGTCGGGCCCACCACACCGCCTGCTCCGTGCCTGCCATCACCCATCTGCCA
S
CTGATTCTGAGCAAGGTCTTTGAGCCGTGCCACACTGTGATCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGG
Celera SNP ID:                hCV7468824
SNP Position Transcript:      1725
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,0)  african american(C,6|G,14)  total(C,10|G,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 435,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:1273):
TCCCCCCACTGCTGTTCTATGAGGGCTGCGTCTTTGACCGGTGCCACATGACGGACCTGGATGTGGTGTGCTCCAGCCTGGAGCTGTACGCGGCACTCTG
Y
GCGTCCCACGACATCTGCATCGATTGGAGAGGCCGGACCGGCCACATGTGCCCATTCACCTGCCCAGCCGACAAGGTGTACCAGCCCTGCGGCCCGAGCA
Celera SNP ID:                hCV11281271
SNP Position Transcript:      1866
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|T,20)  african american(C,17|T,7)  total(C,31|T,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 482,(C,TGT) (C,TGC)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,4|C,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 482,(C,TGT) (C,TGC)



Context              (SEQ ID NO:1274):
TGTGCAGCATCAACGGGACCCTGTACCAGCCCGGCGCCGTGGTCTCCTCGAGCCTGTGCGAAACCTGCAGGTGTGAGCTGCCGGGTGGCCCCCCATCGGA
Y
GCGTTTGTGGTCAGCTGTGAGACCCAGATCTGCAACACACACTGCCCTGTGGGCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGC
Celera SNP ID:                hCV1839396
SNP Position Transcript:      2526
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,19|T,3)  african american(C,9|T,1)  total(C,28|T,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 702,(D,GAC) (D,GAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 702,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1275):
GCTTCGAGTACCAGGAGCAGAGCGGGCAGTGCTGTGGCACCTGTGTGCAGGTCGCCTGTGTCACCAACACCAGCAAGAGCCCCGCCCACCTCTTCTACCC
Y
GGCGAGACCTGGTCAGACGCAGGGAACCACTGTGTGACCCACCAGTGTGAGAAGCACCAGGATGGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCC
Celera SNP ID:                hCV26650352
SNP Position Transcript:      2679
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,5|C,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 753,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1276):
GCATGACCCTCTTCAGCACCAGTGCCCAAGTCTGCGTGCCCACGGGCTGCCCCAGGTGTCTGGGGCCCCACGGAGAGCCGGTGAAGGTGGGCCACACCGT
Y
GGCATGGACTGCCAGGAGTGCACGTGTGAGGCGGCCACGTGGACGCTGACCTGCCGACCCAAGCTCTGCCCGCTGCCCCCTGCCTGCCCCCTGCCCGGCT
Celera SNP ID:                hCV1839389
SNP Position Transcript:      2157
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,4)  african american(C,28|T,4)  total(C,52|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 579,(V,GTC) (V,GTT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,16|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 579,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1277):
GGGCTCGTGGTGGTCACCACGAAGAAGGCGTGCCCCCCGCTCAGCTGTTCTCTGGACGAGGCCCGCATGAGCAAGGACGGCTGCTGCCGCTTCTGCCCGC
Y
GCCCCCGCCCCCGTACCAGAACCAGTCGACCTGTGCTGTGTACCATAGGAGCCTGATCATCCAGCAGCAGGGCTGCAGCTCCTCGGAGCCCGTGCGCCTG
Celera SNP ID:                hCV1839400
SNP Position Transcript:      2843
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,12|T,22)  african american(C,12|T,10)  total(C,24|T,32)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 808,(P,CCG) (L,CTG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,12|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:315, 808,(P,CCG) (L,CTG)



Context              (SEQ ID NO:1278):
CGGTGACCTCTGTGACCCCATATGGGACTTCTCCTACCAATGCTCTGTATCCTTCCCTGTCTACTTCCATGGTATCCGCCTCCGTGGCATCCACCTCTGT
R
GCATCCAGCTCTGTGGCATCCAGCTCTGTGGCTTACTCCACCCAAACCTGCTTCTGCAACGTGGCTGACCGGCTCTACCCTGCAGGATCCACCATATACC
Celera SNP ID:                hCV25929946
SNP Position Transcript:      576
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,27)  african american(A,0|G,34)  total(A,1|G,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:315, 52,(V,GTG) (V,GTA)



Context              (SEQ ID NO:1279):
GTGGGAGCTGGGAGAGAGGCGTCCCAGTGTCCCCCATGCACTGACCAGCACTGCCGCCCTCCTGACCTCCAAGGAGAACCTCCCATATGTCCTCTGAGCT
Y
GGCTTCCAAGGCCAGTGGAACTTGTGCCCCTGTCCAGGCGGCTGCAGCTTTGAACACACTGTCCACGCCCGCTTTCTTGTGGAGGGTGTGGGCTATGGGT
Celera SNP ID:                hCV1839407
SNP Position Transcript:      3303
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,27|T,1)  african american(C,28|T,4)  total(C,55|T,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:315, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,24|T,14)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:315, None



Context              (SEQ ID NO:1280):
GCATCCAGCCTGCTGTTCTGGGGACGTGAGCATCACCTGAGGGTCTCAGGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGA
M
CCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV1839408
SNP Position Transcript:      3595
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,8|C,6) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:315, None



Context              (SEQ ID NO:1281):
GGAATGACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACA
Y
GGCCAATCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV1839409
SNP Position Transcript:      3643
SNP Source:                   Celera; Nickerson
Population(Allele,Count):     no_pop(C,7|T,6) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:315, None



Context              (SEQ ID NO:1282):
ACGCTTGGACATGGTGATCAGCTGCCTGGTGGCTGCAGGAGGAAGAACCTCACTCCTACCTCAGCCCTCAGCCTGCGCTCCCCTCCTCAGTACACGGCCA
R
TCTGTTGCATAAATACACTTGAGCATTTTGCAA
Celera SNP ID:                hCV26650294
SNP Position Transcript:      3649
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,7|G,6) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:315, None



Context              (SEQ ID NO:1283):
GAAACCTACAACAACATCATCAGGAGTGGGGAAAAAATCTGCCGCCGACCTGAGGAGATCACCAGGCTCCAGTGCCGAGCCGAGAGCCACCCGGAGGTGA
R
CATTGAACACCTGGGTCAGGTGGTGCAGTGCAGCCGTGAAGAGGGCCTGGTGTGCCGGAACCAGGACCAGCAGGGACCCTTCAAGATGTGCCTCAACTAC
Celera SNP ID:                hCV25931113
SNP Position Transcript:      335
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,0)  african american(A,29|G,1)  total(A,47|G,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:315, None



Gene Number:                  24
Celera Gene:                  hCG1807055 - 118000094838526
Celera Transcript:            hCT1846315 - 118000094838527
Public Transcript Accession:
Celera Protein:               hCP1730191 - 197000069427760
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9914262..9995968)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:55):
ATGAAAGGTTTGATGTCAGTCTGTACACCTGCACTTGGAGGTGTGGAGTGGGGAGCAGGATACCGCCCCAACCTCTCCACCTGGCTAAATCACTCATCCT
TTGAGATGCAGAAGCCAAAGAGATCCTCAGCACATACCTCCAGAAAGCCAGTTACTGCAGGGGATGCGTACGGACCAGCCAGCCCCATCACAAAGTCTCT
GCAAAGCTATGATAACCTCACGGGGAGCCGGACCCCACATCCTGAATTAAGGGGTGAGCACATGGCCCTGGATGGACCAATCGGAGATGGCCTCATGACT
CAGTCACAAGACTTTCATCTGTACAATGGGGGTACTGCTGGCTCCCAAGGCCAGTGTTGGTGGAATACAGTGAATAGAGATCTCTTTGGGTTTTGGAATA
ACAAAAAAGGGACTGTACATGGATATTTCCAAGCTGGAACCGAGGCACTTTCTAGACGAAGGCAGCCTTATCCCCAGGAGATGATTGAAAATGTAAGAAC
TATTCTGAGCCTGCAGGCCATAGCCAAAGAGACAACAGCAAGGACCAAGATTGGCAAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAATCA
AAGAACACAAACCACGACTGA


Protein Sequence     (SEQ ID NO:316):
MKGLMSVCTPALGGVEWGAGYRPNLSTWLNHSSFEMQKPKRSSAHTSRKPVTAGDAYGPASPITKSLQSYDNLTGSRTPHPELRGEHMALDGPIGDGLMT
QSQDFHLYNGGTAGSQGQCWWNTVNRDLFGFWNNKKGTVHGYFQAGTEALSRRRQPYPQEMIENVRTILSLQAIAKETTARTKIGKVTHPLQKKNMQNKS
KNTNHD*



SNP Information


Context              (SEQ ID NO:1284):
CAAAAAAGGGACTGTACATGGATATTTCCAAGCTGGAACCGAGGCACTTTCTAGACGAAGGCAGCCTTATCCCCAGGAGATGATTGAAAATGTAAGAACT
R
TTCTGAGCCTGCAGGCCATAGCCAAAGAGACAACAGCAAGGACCAAGATTGGCAAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAATCAAA
Celera SNP ID:                hCV3285588
SNP Position Transcript:      502
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,1) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:316, 168,(I,ATT) (V,GTT)



Context              (SEQ ID NO:1285):
TCTAGACGAAGGCAGCCTTATCCCCAGGAGATGATTGAAAATGTAAGAACTATTCTGAGCCTGCAGGCCATAGCCAAAGAGACAACAGCAAGGACCAAGA
Y
TGGCAAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAATCAAAGAACACAAACCACGACTGA
Celera SNP ID:                hCV26982219
SNP Position Transcript:      551
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:316, 184,(I,ATT) (T,ACT)



Context              (SEQ ID NO:1286):
AATAACAAAAAAGGGACTGTACATGGATATTTCCAAGCTGGAACCGAGGCACTTTCTAGACGAAGGCAGCCTTATCCCCAGGAGATGATTGAAAATGTAA
R
AACTATTCTGAGCCTGCAGGCCATAGCCAAAGAGACAACAGCAAGGACCAAGATTGGCAAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAA
Celera SNP ID:                hCV11514335
SNP Position Transcript:      497
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,4) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:316, 166,(R,AGA) (K,AAA)



Gene Number:                  24
Celera Gene:                  hCG1807055 - 118000094838526
Celera Transcript:            hCT2252009 - 118000094838539
Public Transcript Accession:
Celera Protein:               hCP1884497 - 197000069427761
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9914262..9995968)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:56):
GTGAGCACCAGACACAGTGGCCACCTGAGGAGGAAACACACAACAGCTGAGAATCCACGGGGGATGCGTGGCCAGGTTAGAGCATCCTGGAATCAGGCAG
GTACGAGGAGTCCACGAAGTGGAGAGGTGATGCAAATCTGCAGGCCTTGGGGACAAGAGCACATCAAACCCTTGGGGGCCGATGCCTTCAGTATTCCTAA
TTCCTCCATGTTAGAAAGGTATTTTGGGCCAGATCTCTTTGGGTTTTGGAATAACAAAAAAGGGACTGTACATGGATATTTCCAAGCTGGAACCGAGGCA
CTTTCTAGACGAAGGCAGCCTTATCCCCAGGAGGGGTCAGATGAGCCGGCCTGGCAGGCTTGTTTCCCTCCACCAGACAACAGCAAGGACCAAGATTGGC
AAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAATCAAAGAACACAAACCACGACTGACAAACACAGCCACACTCGATTTTAAAAACTTGAC
CTGTGCAGAAGATGAGTCTCCACGGCCTGCACAGCACACAGAATTATTTATCCCTATACCCCCATATATTACACCCCCTTCCCCGGTCTGGAGACAGCCT
CCTGAAACCGCCCTGGGGGCCCCAGAAGCCCTCAGGTCTCCAGGGCTTGTCACTCAGGCACCGAATACACTTAGCCTAATTGGATATTATTCCTTCTTCA
TGAAGCCAAGCAGGTTGTCACCTAGTTCCCTG


Protein Sequence     (SEQ ID NO:317):
MRGQVRASWNQAGTRSPRSGEVMQICRPWGQEHIKPLGADAFSIPNSSMLERYFGPDLFGFWNNKKGTVHGYFQAGTEALSRRRQPYPQEGSDEPAWQAC
FPPPDNSKDQDWQSDTSSPKEEHAEQIKEHKPRLTNTATLDFKNLTCAEDESPRPAQHTELFIPIPPYITPPSPVWRQPPETALGAPEALRSPGLVTQAP
NTLSLIGYYSFFMKPSRLSPSSL



SNP Information


Context              (SEQ ID NO:1287):
AGGCACTTTCTAGACGAAGGCAGCCTTATCCCCAGGAGGGGTCAGATGAGCCGGCCTGGCAGGCTTGTTTCCCTCCACCAGACAACAGCAAGGACCAAGA
Y
TGGCAAAGTGACACATCCTCTCCAAAAGAAGAACATGCAGAACAAATCAAAGAACACAAACCACGACTGACAAACACAGCCACACTCGATTTTAAAAACT
Celera SNP ID:                hCV26982219
SNP Position Transcript:      396
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:317, 111,(D,GAT) (D,GAC)



Gene Number:                  25
Celera Gene:                  hCG1810767 - 64000126973272
Celera Transcript:            hCT1950036 - 64000126973273
Public Transcript Accession:  NM_025225
Celera Protein:               hCP1765925 - 197000069451968
Public Protein Accession:     NP_079501
Gene Symbol:                  C22orf20
Protein Name:                  chromosome 22 open reading frame 20
Celera Genomic Axis:          GA_x5YUV32VY8D(1403768..1440680)
Chromosome:                   22
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:57):
ATGGTCCGAGGGGGGCGGGGCTGACGTCGCGCTGGGAATGCCCTGGCCGAGACACTGAGGCAGGGTAGAGAGCGCTTGCGGGCGCCGGGCGGAGCTGCTG
CGGATCAGGACCCGAGCCGATTCCCGATCCCGACCCAGATCCTAACCCGCGCCCCCGCCCCGCCGCCGCCGCCATGTACGACGCAGAGCGCGGCTGGAGC
TTGTCCTTCGCGGGCTGCGGCTTCCTGGGCTTCTACCACGTCGGGGCGACCCGCTGCCTGAGCGAGCACGCCCCGCACCTCCTCCGCGACGCGCGCATGT
TGTTCGGCGCTTCGGCCGGGGCGTTGCACTGCGTCGGCGTCCTCTCCGGTATCCCGCTGGAGCAGACTCTGCAGGTCCTCTCAGATCTTGTGCGGAAGGC
CAGGAGTCGGAACATTGGCATCTTCCATCCATCCTTCAACTTAAGCAAGTTCCTCCGACAGGGTCTCTGCAAATGCCTCCCGGCCAATGTCCACCAGCTC
ATCTCCGGCAAAATAGGCATCTCTCTTACCAGAGTGTCTGATGGGGAAAACGTTCTGGTGTCTGACTTTCGGTCCAAAGACGAAGTCGTGGATGCCTTGG
TATGTTCCTGCTTCATCCCCTTCTACAGTGGCCTTATCCCTCCTTCCTTCAGAGGCGTGCGATATGTGGATGGAGGAGTGAGTGACAACGTACCCTTCAT
TGATGCCAAAACAACCATCACCGTGTCCCCCTTCTATGGGGAGTACGACATCTGCCCTAAAGTCAAGTCCACGAACTTTCTTCATGTGGACATCACCAAG
CTCAGTCTACGCCTCTGCACAGGGAACCTCTACCTTCTCTCGAGAGCTTTTGTCCCCCCGGATCTCAAGGTGCTGGGAGAGATATGCCTTCGAGGATATT
TGGATGCATTCAGGTTCTTGGAAGAGAAGGGCATCTGCAACAGGCCCCAGCCAGGCCTGAAGTCATCCTCAGAAGGGATGGATCCTGAGGTCGCCATGCC
CAGCTGGGCAAACATGAGTCTGGATTCTTCCCCGGAGTCGGCTGCCTTGGCTGTGAGGCTGGAGGGAGATGAGCTGCTAGACCACCTGCGTCTCAGCATC
CTGCCCTGGGATGAGAGCATCCTGGACACCCTCTCGCCCAGGCTCGCTACAGCACTGAGTGAAGAAATGAAAGACAAAGGTGGATACATGAGCAAGATTT
GCAACTTGCTACCCATTAGGATAATGTCTTATGTAATGCTGCCCTGTACCCTGCCTGTGGAATCTGCCATTGCGATTGTCCAGAGACTGGTGACATGGCT
TCCAGATATGCCCGACGATGTCCTGTGGTTGCAGTGGGTGACCTCACAGGTGTTCACTCGAGTGCTGATGTGTCTGCTCCCCGCCTCCAGGTCCCAAATG
CCAGTGAGCAGCCAACAGGCCTCCCCATGCACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCCGAGGGCTGTCCAGCAGAGACCAAAGCAG
AGGCCACCCCGCGGTCCATCCTCAGGTCCAGCCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGAGGGGCTCTCCACCTTTCCCAGTTTTTC
ACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTTCCCATCTTTGTGCAGCTACCTCCGCATTGCT
GTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAGGAAGCAACCTTTCGCCTGTGCAGCGGTCCA
GCACTTAACTCTAATACATCAGCATGCGTTAATTCAGCTGGTTGGGAAATGACACCAGGAAGCCCAGTGCAGAGGGTCCCTTACTGACTGTTTCGTGGCC
CTATTAATGGTCAGACTGTTCCAGCATGAGGTTCTTAGAATGACAGGTGTTTGGATGGGTGGGGGCCTTGTGATGGGGGGTAGGCTGGCCCATGTGTGAT
CTTGTGGGGTGGAGGGAAGAGAATAGCATGATCCCACTTCCCCATGCTGTGGGAAGGGGTGCAGTTCGTCCCCAAGAACGACACTGCCTGTCAGGTGGTC
TGCAAAGATGATAACCTTGACTACTAAAAACGTCTCCATGGCGGGGGTAACAAGATGATAATCTACTTAATTTTAGAACACCTTTTTCACCTAACTAAAA
TAATGTTTAAAGAGTTTTGTATAAAAATGTAAGGAAGCGTTGTTACCTGTTGAATTTTGTATTATGTGAATCAGTGAGATGTTAGTAGAATAAGCCTTAA
AAAAAAAAAAAAATCGGTTGGGTGCAGCGGCACACGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTTGGCAGATCACCTGAGGTCAGGAGTTCAAGAC
CAGTCTGGCCAACATAGCAAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGAAGGCTGA
GGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATTGCACCATTTCATTCCAGCCTGGGCAACATGAGTGAAAGTCTGACTCAA
AAAAAAAAAATTTAAAAAACAAAATAATCTAGTGTGCAGGGCATTCACCTCAGCCCCCCAGGCAGGAGCCAAGCACAGCAGGAGCTTCCGCCTCCTCTCC
ACTGGAGCACACAACTTGAACCTGGCTTATTTTCTGCAGGGACCAGCCCCACATGGTCAGTGAGTTTCTCCCCATGTGTGGCGATGAGAGAGTGTAGAAA
TAAAGAC


Protein Sequence     (SEQ ID NO:318):
MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCK
CLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKST
NFLHVDITKLSLRLCTGNLYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDE
LLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMC
LLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPEGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL*



SNP Information


Context              (SEQ ID NO:1288):
TCTGCAGGTCCTCTCAGATCTTGTGCGGAAGGCCAGGAGTCGGAACATTGGCATCTTCCATCCATCCTTCAACTTAAGCAAGTTCCTCCGACAGGGTCTC
K
GCAAATGCCTCCCGGCCAATGTCCACCAGCTCATCTCCGGCAAAATAGGCATCTCTCTTACCAGAGTGTCTGATGGGGAAAACGTTCTGGTGTCTGACTT
Celera SNP ID:                hCV16167746
SNP Position Transcript:      468
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,5|T,33)  african american(G,0|T,18)  total(G,5|T,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 99,(C,TGC) (G,GGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,5|T,35)  african american(G,1|T,37)  total(G,6|T,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 99,(C,TGC) (G,GGC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2762|G,182) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 99,(C,TGC) (G,GGC)



Context              (SEQ ID NO:1289):
TGGCATCTTCCATCCATCCTTCAACTTAAGCAAGTTCCTCCGACAGGGTCTCTGCAAATGCCTCCCGGCCAATGTCCACCAGCTCATCTCCGGCAAAATA
K
GCATCTCTCTTACCAGAGTGTCTGATGGGGAAAACGTTCTGGTGTCTGACTTTCGGTCCAAAGACGAAGTCGTGGATGCCTTGGTATGTTCCTGCTTCAT
Celera SNP ID:                hCV16167747
SNP Position Transcript:      516
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2700|T,256) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,22
0|T,20)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 115,(G,GGC) (C,TGC)



Context              (SEQ ID NO:1290):
TCTGCTCCCCGCCTCCAGGTCCCAAATGCCAGTGAGCAGCCAACAGGCCTCCCCATGCACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCC
R
AGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCGCGGTCCATCCTCAGGTCCAGCCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGA
Celera SNP ID:                hCV2520500
SNP Position Transcript:      1473
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,26)  african american(A,8|G,26)  total(A,16|G,52)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 434,(E,GAG) (K,AAG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,2800|A,352) ; no_pop(G,10|A,8) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 434,(E,GAG) (K,AAG)



Context              (SEQ ID NO:1291):
ACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCCGAGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCGCGGTCCATCCTCAGGTCCA
K
CCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGAGGGGCTCTCCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGA
Celera SNP ID:                hCV25926628
SNP Position Transcript:      1531
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|T,0)  african american(G,29|T,3)  total(G,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 453,(S,AGC) (I,ATC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 453,(S,AGC) (I,ATC)



Context              (SEQ ID NO:1292):
TCTCTCTTACCAGAGTGTCTGATGGGGAAAACGTTCTGGTGTCTGACTTTCGGTCCAAAGACGAAGTCGTGGATGCCTTGGTATGTTCCTGCTTCATCCC
Y
TTCTACAGTGGCCTTATCCCTCCTTCCTTCAGAGGCGTGCGATATGTGGATGGAGGAGTGAGTGACAACGTACCCTTCATTGATGCCAAAACAACCATCA
Celera SNP ID:                hCV7240
SNP Position Transcript:      620
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,92|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:318, 149,(P,CCC) (P,CCT)



Context              (SEQ ID NO:1293):
TCTGCAACAGGCCCCAGCCAGGCCTGAAGTCATCCTCAGAAGGGATGGATCCTGAGGTCGCCATGCCCAGCTGGGCAAACATGAGTCTGGATTCTTCCCC
R
GAGTCGGCTGCCTTGGCTGTGAGGCTGGAGGGAGATGAGCTGCTAGACCACCTGCGTCTCAGCATCCTGCCCTGGGATGAGAGCATCCTGGACACCCTCT
Celera SNP ID:                hCV25931743
SNP Position Transcript:      1034
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,34)  total(A,2|G,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:318, 287,(P,CCG) (P,CCA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:318, 287,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1294):
TTCTACAGTGGCCTTATCCCTCCTTCCTTCAGAGGCGTGCGATATGTGGATGGAGGAGTGAGTGACAACGTACCCTTCATTGATGCCAAAACAACCATCA
Y
CGTGTCCCCCTTCTATGGGGAGTACGACATCTGCCCTAAAGTCAAGTCCACGAACTTTCTTCATGTGGACATCACCAAGCTCAGTCTACGCCTCTGCACA
Celera SNP ID:                hCV25923856
SNP Position Transcript:      721
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 183,(T,ACC) (I,ATC)



Context              (SEQ ID NO:1295):
CACCGTGTCCCCCTTCTATGGGGAGTACGACATCTGCCCTAAAGTCAAGTCCACGAACTTTCTTCATGTGGACATCACCAAGCTCAGTCTACGCCTCTGC
M
CAGGGAACCTCTACCTTCTCTCGAGAGCTTTTGTCCCCCCGGATCTCAAGGTGCTGGGAGAGATATGCCTTCGAGGATATTTGGATGCATTCAGGTTCTT
Celera SNP ID:                hCV25924482
SNP Position Transcript:      819
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,31|C,1)  african american(A,30|C,4)  total(A,61|C,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 216,(T,ACA) (P,CCA)



Context              (SEQ ID NO:1296):
TTATCCCTCCTTCCTTCAGAGGCGTGCGATATGTGGATGGAGGAGTGAGTGACAACGTACCCTTCATTGATGCCAAAACAACCATCACCGTGTCCCCCTT
Y
TATGGGGAGTACGACATCTGCCCTAAAGTCAAGTCCACGAACTTTCTTCATGTGGACATCACCAAGCTCAGTCTACGCCTCTGCACAGGGAACCTCTACC
Celera SNP ID:                hCV25923879
SNP Position Transcript:      734
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,5)  african american(C,38|T,0)  total(C,71|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:318, 187,(F,TTC) (F,TTT)



Context              (SEQ ID NO:1297):
GCATCTCTCTTACCAGAGTGTCTGATGGGGAAAACGTTCTGGTGTCTGACTTTCGGTCCAAAGACGAAGTCGTGGATGCCTTGGTATGTTCCTGCTTCAT
S
CCCTTCTACAGTGGCCTTATCCCTCCTTCCTTCAGAGGCGTGCGATATGTGGATGGAGGAGTGAGTGACAACGTACCCTTCATTGATGCCAAAACAACCA
Celera SNP ID:                hCV7241
SNP Position Transcript:      617
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,71|G,21)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:318, 148,(I,ATC) (M,ATG)



Context              (SEQ ID NO:1298):
CTGAGGGGCTCTCCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTT
Y
CCATCTTTGTGCAGCTACCTCCGCATTGCTGTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAG
Celera SNP ID:                hCV29849010
SNP Position Transcript:      1670
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Context              (SEQ ID NO:1299):
CCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTTCCCATCTTTGTG
Y
AGCTACCTCCGCATTGCTGTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAGGAAGCAACCTTT
Celera SNP ID:                hCV2520501
SNP Position Transcript:      1682
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,10)  african american(C,31|T,3)  total(C,61|T,13)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,936|T,562) ; no_pop(C,300|T,82) ; no_pop(C,-|T,-) ; no_pop(C,
552|T,152)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Context              (SEQ ID NO:1300):
TGTAAGGAAGCGTTGTTACCTGTTGAATTTTGTATTATGTGAATCAGTGAGATGTTAGTAGAATAAGCCTTAAAAAAAAAAAAAAATCGGTTGGGTGCAG
Y
GGCACACGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGTTGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAGCAAAACCCTGT
Celera SNP ID:                hCV26640536
SNP Position Transcript:      2328
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Context              (SEQ ID NO:1301):
CAACATAGCAAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTATTCGGAAGGCTGAGGCAGGAGA
R
TCACTTGAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATTGCACCATTTCATTCCAGCCTGGGCAACATGAGTGAAAGTCTGACTCAAAAAAAAAAAA
Celera SNP ID:                hCV2520504
SNP Position Transcript:      2510
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,2|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Context              (SEQ ID NO:1302):
GAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATTGCACCATTTCATTCCAGCCTGGGCAACATGAGTGAAAGTCTGACTC
A
AAAAAAAAAAATTTAAAAAACAAAATAATCTAGTGTGCAGGGCATTCACCTCAGCCCCCCAGGCAGGAGCCAAGCACAGCAGGAGCTTCCGCCTCCTCTC
Celera SNP ID:                hCV11745773
SNP Position Transcript:      2599
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,3|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Context              (SEQ ID NO:1303):
TTTAAAAAACAAAATAATCTAGTGTGCAGGGCATTCACCTCAGCCCCCCAGGCAGGAGCCAAGCACAGCAGGAGCTTCCGCCTCCTCTCCACTGGAGCAC
R
CAACTTGAACCTGGCTTATTTTCTGCAGGGACCAGCCCCACATGGTCAGTGAGTTTCTCCCCATGTGTGGCGATGAGAGAGTGTAGAAATAAAGAC
Celera SNP ID:                hCV31445551
SNP Position Transcript:      2711
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:318, None



Gene Number:                  25
Celera Gene:                  hCG1810767 - 64000126973272
Celera Transcript:            hCT1967567 - 64000126973286
Public Transcript Accession:
Celera Protein:               hCP1780973 - 197000069451969
Public Protein Accession:
Gene Symbol:                  C22orf20
Protein Name:                  chromosome 22 open reading frame 20
Celera Genomic Axis:          GA_x5YUV32VY8D(1403768..1440680)
Chromosome:                   22
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:58):
CCTCTCCATGGTGCCTCTGCTGGGCTCACATGTGACCAAGCACAGCAAACCATGAGGCAGGGGATGGTCTTGACCATGAGAGCCCTTGCAGCAGCTGCCA
TGGGCCTCAGCTCCTCTCCAAGCTGGGAAGAGCCCTGAAAAGCCAAGGTGTTTTTTTTTCCCTCTTTATTTCAGTGTAAGTCCCTTGAGCTTTCTTGAAC
CAGAAGTGGGCTCATTTTGCTTTAGAGATTTCAGGTGGGCTTGTCCTTGTCCTAGCATCCCAGATCCACCTTCTGGGAAGTCATCAGATTGGAGGTGATG
TTGGCAGCTTTTGTAAACAAAGGGTAGTGTTGTAAGCTGTTGTGTCTGCCTATGTGTGTGTTTGTGTACTTGGTCTCATCTCTGCAGACTGGTGACATGG
CTTCCAGATATGCCCGACGATGTCCTGTGGTTGCAGTGGGTGACCTCACAGGTGTTCACTCGAGTGCTGATGTGTCTGCTCCCCGCCTCCAGGTCCCAAA
TGCCAGTGAGCAGCCAACAGGCCTCCCCATGCACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCCGAGGGCTGTCCAGCAGAGACCAAAGC
AGAGGCCACCCCGCGGTCCATCCTCAGGTCCAGCCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGAGGGGCTCTCCACCTTTCCCAGTTTT
TCACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTTCCCATCTTTGTGCAGCTACCTCCGCATTG
CTGTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAGGAAGCAACCTTTCGCCTGTGCAGCGGTC
CAGCACTTAACTCTAATACATCAGCATGCGTTAATTCAGCTGGTTGGGAAATGACACCAGGAAGCCCAGTGCAGAGGGTCCCTTACTGACTGTTTCGTGG
CCCTATTAATGGTCAGACTGTTCCAGCATGAGGTTCTTAGAATGACAGGTGTTTGGATGGGTGGGGGCCTTGTGATGGGGGGTAGGCTGGCCCATGTGTG
ATCTTGTGGGGTGGAGGGAAGAGAATAGCATGATCCCACTTCCCCATGCTGTGGGAAGGGGTGCAGTTCGTCCCCAAGAACGACACTGCCTGTCAGGTGG
TCTGCAAAGATGATAACCTTGACTACTAAAAACGTCTCCATGGCGGGGGTAACAAGATGATAATCTACTTAATTTTAGAACACCTTTTTCACCTAACTAA
AATAATGTTTAAAGAGTTTTGTATAAAAATGTAAGGAAGCGTTGTTACCTGTTGAATTTTGTATTATGTGAATCAGTGAGATGTTAGTAGAATAAGCCTT
AAAAAAAAAAAAAAATCGGTTGGGTGCAGCGGCACACGGCT


Protein Sequence     (SEQ ID NO:319):
MPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPEGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLE
KSL*



SNP Information


Context              (SEQ ID NO:1304):
TCTGCTCCCCGCCTCCAGGTCCCAAATGCCAGTGAGCAGCCAACAGGCCTCCCCATGCACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCC
R
AGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCGCGGTCCATCCTCAGGTCCAGCCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGA
Celera SNP ID:                hCV2520500
SNP Position Transcript:      575
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,26)  african american(A,8|G,26)  total(A,16|G,52)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:319, 56,(E,GAG) (K,AAG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,2800|A,352) ; no_pop(G,10|A,8) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:319, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:1305):
ACACCTGAGCAGGACTGGCCCTGCTGGACTCCCTGCTCCCCCGAGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCGCGGTCCATCCTCAGGTCCA
K
CCTGAACTTCTTCTTGGGCAATAAAGTACCTGCTGGTGCTGAGGGGCTCTCCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGA
Celera SNP ID:                hCV25926628
SNP Position Transcript:      633
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|T,0)  african american(G,29|T,3)  total(G,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:319, 75,(S,AGC) (I,ATC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:319, 75,(S,AGC) (I,ATC)



Context              (SEQ ID NO:1306):
GAGCTTTCTTGAACCAGAAGTGGGCTCATTTTGCTTTAGAGATTTCAGGTGGGCTTGTCCTTGTCCTAGCATCCCAGATCCACCTTCTGGGAAGTCATCA
S
ATTGGAGGTGATGTTGGCAGCTTTTGTAAACAAAGGGTAGTGTTGTAAGCTGTTGTGTCTGCCTATGTGTGTGTTTGTGTACTTGGTCTCATCTCTGCAG
Celera SNP ID:                hCV30245321
SNP Position Transcript:      287
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:319, None



Context              (SEQ ID NO:1307):
CTGAGGGGCTCTCCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTT
Y
CCATCTTTGTGCAGCTACCTCCGCATTGCTGTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAG
Celera SNP ID:                hCV29849010
SNP Position Transcript:      772
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:319, None



Context              (SEQ ID NO:1308):
CCACCTTTCCCAGTTTTTCACTAGAGAAGAGTCTGTGAGTCACTTGAGGAGGCGAGTCTAGCAGATTCTTTCAGAGGTGCTAAAGTTTCCCATCTTTGTG
Y
AGCTACCTCCGCATTGCTGTGTAGTGACCCCTGCCTGTGACGTGGAGGATCCCAGCCTCTGAGCTGAGTTGGTTTTATGAAAAGCTAGGAAGCAACCTTT
Celera SNP ID:                hCV2520501
SNP Position Transcript:      784
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,10)  african american(C,31|T,3)  total(C,61|T,13)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:319, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,936|T,562) ; no_pop(C,300|T,82) ; no_pop(C,-|T,-) ; no_pop(C,
552|T,152)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:319, None



Context              (SEQ ID NO:1309):
TGTAAGGAAGCGTTGTTACCTGTTGAATTTTGTATTATGTGAATCAGTGAGATGTTAGTAGAATAAGCCTTAAAAAAAAAAAAAAATCGGTTGGGTGCAG
Y
GGCACACGGCT
Celera SNP ID:                hCV26640536
SNP Position Transcript:      1430
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:319, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT1643564 - 208000027225729
Public Transcript Accession:  NM_004796
Celera Protein:               hCP1609055 - 208000027225764
Public Protein Accession:     NP_004787
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:59):
CCCAAAGAGGAAACATACCCAGCAAACTCAGTTGATTAAACATCAAACAGACATACAGACAGATCCCAAATCTTCTGTTCAACTGGAAAGGTCTTTTCTC
TGGAGTCCTGGGAGGCAAGTTATGGGCAGCACTGCTTCTGGCCGCACCATGAAGCCTGAGTCTGCTTGCGCTCTGCCCAGGGCCCTGCTCTGTCTGAGCA
TTGGGCTTCTAGCTGCCCCCCTCCCCACAGCCTGCCGCTGCTAGGAGGTAGAACTTTAGGAGTGGTCCTTGGCCTGTTTCTACCTGTCACCTGGCTCACC
TCACCACTCACTCCTCCTCCATCACAGCACCCCGGCCCTCCCTGTCCCTGGCCTCCCTGGCTGGGGCATTTGGGGGTCCGCTGGGAGGAGTGCATCGCTG
AAGGCTTCTTCCTACTCTCCTGCACCTTCTCCTCCTTGAGTCAAGGCCTCCGGATCCACATGGATAGCTGAGATCTTTTCTTGGAGAAAGACGCTTTCCT
CTTTACTCCAGTCCCTCACTTCCCCACCTGATTTTCCTCCTCTTCTGCTGGTCCTGTCTTTTTCTACTGCCTCTTTATTCAATTTCTTGCTTGTGTGCCC
CTCTGGGACTCTCTTGTACACTTTCCTCCATCTCCACTATCTCAGGATCTGTGTGTGTGCTGCCTTCCTCCTGTGTGCTTTCTGTCCCCCCATCTCTGTC
TTGTCTTTCCCACTTCTATTGCCAAAGGGAGAGATCCTCTCCGGGCTGTTCCCTGGCCTGTCTGCTCCTCCGGGCTCTGTCCCAGCAGCGACAATGAGCT
CCACACTCCACTCGGTTTTCTTCACCCTGAAGGTCAGCATCCTGCTGGGGTCCCTGCTGGGGCTCTGCCTGGGCCTTGAGTTCATGGGCCTCCCCAACCA
GTGGGCCCGCTACCTCCGCTGGGATGCCAGCACACGCAGTGACCTGAGTTTCCAGTTCAAGACCAACGTCTCTACGGGGCTGCTCCTCTACCTGGATGAT
GGCGGCGTCTGCGACTTCCTATGCCTCTCCCTGGTGGATGGCCGCGTTCAGCTCCGCTTCAGCATGGACTGTGCCGAGACTGCCGTGCTGTCCAACAAGC
AGGTGAATGACAGCAGCTGGCACTTCCTCATGGTGAGCCGTGACCGCCTGCGCACGGTGCTGATGCTTGATGGCGAGGGCCAGTCTGGGGAGCTGCAGCC
CCAGCGGCCCTACATGGATGTGGTCAGTGACTTGTTCCTTGGTGGAGTCCCTACTGACATACGACCTTCTGCCCTGACCCTTGATGGAGTTCAGGCCATG
CCCGGCTTCAAGGGGTTAATTCTGGATCTCAAGTATGGAAACTCGGAGCCTCGGCTTCTGGGGAGCCGGGGTGTCCAGATGGATGCCGAGGGACCCTGTG
GTGAGCGTCCCTGTGAAAATGGTGGGATCTGCTTTCTCCTGGACGGCCACCCCACCTGTGACTGTTCTACCACTGGCTATGGTGGCAAGCTCTGCTCAGA
AGGCCTCTCCCACCTCATGATGAGTGAACAAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCG
ATCCAGAGCAGCAGTGATGAAATCACCCTCTCCTTTAAGACCTGGCAGCGTAACGGCCTCATCCTGCACACGGGCAAGTCGGCTGACTATGTCAACCTGG
CTCTGAAGGATGGTGCGGTCTCCTTGGTCATTAACCTGGGGTCCGGGGCCTTTGAGGCCATTGTGGAGCCAGTGAATGGAAAATTCAACGACAACGCCTG
GCATGATGTCAAAGTGACACGCAACCTCCGGCAGGTGACAATCTCTGTGGATGGCATTCTTACCACGACGGGCTACACTCAAGAGGACTATACCATGCTG
GGCTCGGACGACTTCTTCTATGTAGGAGGAAGCCCAAGTACCGCTGACTTGCCTGGCTCCCCTGTCAGCAACAACTTCATGGGCTGCCTTAAAGAGGTTG
TTTATAAGAATAATGACATCCGTCTGGAGCTGTCTCGCCTGGCCCGGATTGCGGACACCAAGATGAAAATCTATGGCGAAGTTGTGTTTAAGTGTGAGAA
TGTGGCCACACTGGACCCCATCAACTTTGAGACCCCAGAGGCTTACATCAGCTTGCCCAAGTGGAACACTAAACGTATGGGCTCCATCTCCTTTGACTTC
CGCACCACAGAGCCCAATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTG
CCGTGGAACTCCTCGATGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATG
GTACCATGTGGACATTCAGCGAGATGGCAGATCAGGTACTATATCAGTGAACAGCAGGCGCACGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGAC
CTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCACCGAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGG
GCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGCAGAATGCTGCGGGTGTCAAGTCCTCCTGTTCACGGAT
GAGTGCCAAGCAGTGTGACAGCTACCCCTGCAAGAATAATGCTGTGTGCAAGGACGGCTGGAACCGCTTCATCTGCGACTGCACCGGCACCGGATACTGG
GGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATG
TGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCG
TGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAACGAG
TGGCACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTTTGG
AGTTCCACAACATTGAAACGGGAATCATGACTGAGAAACGCTACATCTCCGTTGTCCCCTCCAGCTTTATTGGCCATCTGCAGAGCCTCATGTTTAATGG
CCTTCTCTACATTGACTTGTGCAAAAATGGTGACATTGATTATTGTGAGCTGAAGGCTCGTTTTGGACTGAGGAACATCATCGCTGACCCTGTCACCTTT
AAGACCAAGAGCAGCTACCTGAGCCTTGCCACTCTTCAGGCTTACACCTCCATGCACCTCTTCTTCCAGTTCAAGACCACCTCACCAGATGGCTTCATTC
TCTTCAATAGTGGTGATGGCAATGACTTCATTGCAGTCGAGCTTGTCAAGGGGTATATACACTACGTTTTTGACCTCGGAAACGGTCCCAATGTGATCAA
AGGCAACAGTGACCGCCCCCTGAATGACAACCAGTGGCACAATGTCGTCATCACTCGGGACAATAGTAACACTCATAGCCTGAAAGTGGACACCAAAGTG
GTCACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGGCATGTACAGCAACCTCCCAAAGCTCG
TGGCCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATGATGCTCTTCATCGGAGCGGACAGAT
CGAGCGTGGCTGTGAAGGACCCAGTACCACCTGCCAGGAAGATTCATGTGCCAACCAGGGGGTCTGCATGCAACAATGGGAGGGCTTCACCTGTGATTGT
TCTATGACCTCTTATTCTGGAAACCAGTGCAATGATCCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATG
ACAGGCCCAGCACGCGGTCTGACCGCCTTGCCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGA
CTTCCTCCAGCTTCACATAGAACAGGGGAAAATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGAC
GGCAAATACCATGTGGTACGCTTCACCAGGAACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGT
TAACCATCTTCAACACTCAGGCGCAAATAGCCATTGGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAA
AGTACTGAACATGGCGGCTGAGAACAACCCCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACG
ACCTCCATGCCACCAGAAATGTCTACTACTGTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGC
CAACATCAGATGATCTTGTTTCATCTGCTGAATGTTCAAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAAT
CAGACGGGTTCCGGGGGCCTCAGAGGTGATCCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATC
CTCCTGTACGCCATGTACAAGTACAGGAACAGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCA
CGCTCATGAAGGAGAAGCAGCAGAGCTCGAAGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACA
CGCGAGTTTTCACAGTTATTTCTATCCACGCCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAA
CCACGACTCTGGTGGGGAAAACCGTTTTTTAAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGC
GGTCGCTGGGAGACAGAAGGTTTTGTGCCCTGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGG
AAACTTCCTTCTCCGGAGGACCTTTTACTAAAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGA
CTGTAACCATGTTTTTTCTGTTTAATTATGTAAAAAACAAAACTACAACAACAAAAAAAGAAAAAAGTTAAAAAAGAAAAAAACACCAAAAAACAAAAAC
AAACAAAAAAAAAAACCCACAACCCTTATCTGGTTCTGACCAGTGTGCGTGTAACTTTATGATCTGAGGGGAAAAATGGCTTTTGGGTTTTTGTTTATTT
TTTTGATAATGACTGGACATCAGAAGAGGAAAAAAACTCAAAACAAAAGCGAGAGAGACTATTGCCATATGAACTCAAAAGCTATCATGGTGTTCACTCT
ACATATCAGGTTATGGTGTCTCTAGAATCTGTTGTTTGTTTCCTATAAGATGCTTTGCTGAACACATAGCAAAATTCATGTGACGGATGATAAATTGATT
CGAAAAGCTGGTCCCCCAGGATCTAATTTCAGAATTTACCACCCAAACCCGGAACAGATGGGTTTAGGGCTGGTGTTATCAGAGCTATTGGCTTTACGTA
ACAATATTGTTCCTGTCCATTCACCCAGCCAAATTGTGTTAAAGAGGAAAGCCCCACAAACTAAAACAGCCTTTCCTAGGGAAGAGGAAGGGGAGGTGGG
CTGGATCTGTGACTGATTGAAATGCATGCAAATAAAAAAGACAATATTAAAGTCTGTTATCAAACCAGACAGTAGGGGAGTTCAACTCGTGATGGAACCA
CAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAGTGGTTTAATTTT
GTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAGCTGCTGTGACA
CACACACAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAA
TCTGTTAAAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTA
GTTTTGTCACAGTTAACTGTGTCAAAGAGAATTAAAAAAAAAAACTTCAGATTTTGTTTACATATTTTACTACATTTTTGCTGGTATAATTCCTTAGCCA
CCTATGTACATACTGCTTTAAGAAATGTTTTTTTCCTGTTTATTTCTGTTTGGTTTATATTCTGGTTGTCTTTTTCTTTTTGTAAAGAGGAAACAATGTA
CAGAAAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGG
GTCATATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGAC
TTTGAAAAAATATCTTAACGACATGGGGCAAAAAGTGCAATCTAAATGGTAGCCTTTACTAATGTGTGTGGAAAGAGGTGTTCCTCATTATCTAATATTT
CAATGTGTTAAGAGTTTAATTTTTTTGTTATCATTAAAAAAGACAGGATTATAAAGAGATATCAAAGCACGATTTTAGATAACCTAAACGGCCCAGCCTA
TACGAAGTTGATTATATCTCGATGTCTGTAAAAGATTGCTGTTCTTGGAGTCTTGAGGTCTTGTGAATTGATTTCCTGCTTTCTTTCATTTTTTTCAATT
TAAGTAATAATACATTTGTTATATTCCTTTCAGTGTAAGTTTCTATTTGGACAATTTTATGGGAACATGTGCATTCTCTATGTGAGCTTCTATCATATTC
CTGTTTTATTAGCAGAACCTAAAGGAATTTATTTAATGATGTTGTGACATTACTGCTTTTTCTTTTTTCTTTTCTTAGTTCATATTTGCATTTTCGTTCA
AGGATATGCTTAGCAATAAAATGTTCTTCCC


Protein Sequence     (SEQ ID NO:320):
MSSTLHSVFFTLKVSILLGSLLGLCLGLEFMGLPNQWARYLRWDASTRSDLSFQFKTNVSTGLLLYLDDGGVCDFLCLSLVDGRVQLRFSMDCAETAVLS
NKQVNDSSWHFLMVSRDRLRTVLMLDGEGQSGELQPQRPYMDVVSDLFLGGVPTDIRPSALTLDGVQAMPGFKGLILDLKYGNSEPRLLGSRGVQMDAEG
PCGERPCENGGICFLLDGHPTCDCSTTGYGGKLCSEGLSHLMMSEQAREENVATFRGSEYLCYDLSQNPIQSSSDEITLSFKTWQRNGLILHTGKSADYV
NLALKDGAVSLVINLGSGAFEAIVEPVNGKFNDNAWHDVKVTRNLRQVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLK
EVVYKNNDIRLELSRLARIADTKMKIYGEVVFKCENVATLDPINFETPEAYISLPKWNTKRMGSISFDFRTTEPNGLILFTHGKPQERKDARSQKNTKVD
FFAVELLDGNLYLLLDMGSGTIKVKATQKKANDGEWYHVDIQRDGRSGTISVNSRRTPFTASGESEILDLEGDMYLGGLPENRAGLILPTELWTAMLNYG
YVGCIRDLFIDGRSKNIRQLAEMQNAAGVKSSCSRMSAKQCDSYPCKNNAVCKDGWNRFICDCTGTGYWGRTCEREASILSYDGSMYMKIIMPMVMHTEA
EDVSFRFMSQRAYGLLVATTSRDSADTLRLELDGGRVKLMVNLDCIRINCNSSKGPETLYAGQKLNDNEWHTVRVVRRGKSLKLTVDDDVAEGTMVGDHT
RLEFHNIETGIMTEKRYISVVPSSFIGHLQSLMFNGLLYIDLCKNGDIDYCELKARFGLRNIIADPVTFKTKSSYLSLATLQAYTSMHLFFQFKTTSPDG
FILFNSGDGNDFIAVELVKGYIHYVFDLGNGPNVIKGNSDRPLNDNQWHNVVITRDNSNTHSLKVDTKVVTQVINGAKNLDLKGDLYMAGLAQGMYSNLP
KLVASRDGFQGCLASVDLNGRLPDLINDALHRSGQIERGCEGPSTTCQEDSCANQGVCMQQWEGFTCDCSMTSYSGNQCNDPGATYIFGKSGGLILYTWP
ANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPTG
RQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTAS
IQPTSDDLVSSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETRNYISNSAQS
NGTLMKEKQQSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1310):
TGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGC
Y
GACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCT
Celera SNP ID:                hDV70874226
SNP Position Transcript:      2968
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 725,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1311):
ATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGG
S
ATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATG
Celera SNP ID:                hCV30252379
SNP Position Transcript:      3775
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 994,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1312):
ACTGGGGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGA
R
GATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGG
Celera SNP ID:                hCV25935182
SNP Position Transcript:      2896
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,3|G,33)  total(A,3|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 701,(E,GAG) (E,GAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 701,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1313):
TGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTAC
R
ACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCA
Celera SNP ID:                hCV16183690
SNP Position Transcript:      2950
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,4) ; no_pop(G,-|A,-) ; no_pop(G,232|A,
8)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 719,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1314):
GGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAA
Y
GAGTGGCACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTT
Celera SNP ID:                hCV25940509
SNP Position Transcript:      3097
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,33|T,5)  total(C,73|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 768,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1315):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      4630
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 1279,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1316):
CCCGGCTTCAAGGGGTTAATTCTGGATCTCAAGTATGGAAACTCGGAGCCTCGGCTTCTGGGGAGCCGGGGTGTCCAGATGGATGCCGAGGGACCCTGTG
R
TGAGCGTCCCTGTGAAAATGGTGGGATCTGCTTTCTCCTGGACGGCCACCCCACCTGTGACTGTTCTACCACTGGCTATGGTGGCAAGCTCTGCTCAGAA
Celera SNP ID:                hCV25639661
SNP Position Transcript:      1401
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,20)  african american(A,5|G,23)  total(A,17|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:320, 203,(G,GGT) (D,GAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:320, 203,(G,GGT) (D,GAT)



Context              (SEQ ID NO:1317):
CGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCAC
Y
GAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGC
Celera SNP ID:                hCV16183691
SNP Position Transcript:      2563
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2914|T,226) ; no_pop(C,-|T,-) ; no_pop(C,792|T,152)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 590,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1318):
GTGCCGAGACTGCCGTGCTGTCCAACAAGCAGGTGAATGACAGCAGCTGGCACTTCCTCATGGTGAGCCGTGACCGCCTGCGCACGGTGCTGATGCTTGA
Y
GGCGAGGGCCAGTCTGGGGAGCTGCAGCCCCAGCGGCCCTACATGGATGTGGTCAGTGACTTGTTCCTTGGTGGAGTCCCTACTGACATACGACCTTCTG
Celera SNP ID:                hCV25639665
SNP Position Transcript:      1171
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,8|T,22)  african american(C,0|T,32)  total(C,8|T,54)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 126,(D,GAT) (D,GAC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,20|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:320, 126,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1319):
AATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCGTGGAACTCCTCG
K
TGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTACCATGTGGACATT
Celera SNP ID:                hCV25939532
SNP Position Transcript:      2316
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:320, 508,(A,GCT) (V,GTT)



Context              (SEQ ID NO:1320):
GTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAG
W
GGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAG
Celera SNP ID:                hCV31754640
SNP Position Transcript:      6289
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:320, None



Context              (SEQ ID NO:1321):
CAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTT
A
AAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGT
Celera SNP ID:                hCV26928391
SNP Position Transcript:      6507
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:320, None



Context              (SEQ ID NO:1322):
AAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTA
A
AGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTC
Celera SNP ID:                hCV26928392
SNP Position Transcript:      6508
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:320, None



Context              (SEQ ID NO:1323):
ATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTT
R
AAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTA
Celera SNP ID:                hCV26928393
SNP Position Transcript:      6515
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:320, None



Context              (SEQ ID NO:1324):
AAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCA
K
ATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGA
Celera SNP ID:                hCV31754644
SNP Position Transcript:      6905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:320, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT1952865 - 208000027225739
Public Transcript Accession:  NM_138970
Celera Protein:               hCP1765380 - 208000027225766
Public Protein Accession:     NP_620426
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:60):
ATATGACTTGCCCATTTGTGAATTTGGCTCCCCAACTCCTCGCTTCACTTCACCTGTGCCTCCCTGGTCCGCGCACTTCGCAGGCGCCCGCCCGCCTCTC
GGCCACCTCTGCAGCCTGCCAGGCACCTCCTCTTGCGCTCTCGCTGATTTCGCCCACCCACCTCCCTCCACCCCGTGCCACGTTGGTTTGGGTGGCTGCT
CCGCACCGGGTTCCTCCTCCTCTCCTCTTTCCCTCCAGTCCTTCTTATTCTCTTCCTCTGGCTGCGGTGGCTGCTGCTGCTGCTGGTTTTCATCCAGTTG
GGAAACCCAGGAAGCCGGCGGCTGCTCCGTGGCGCTAGTCCAGCACGCCCAGGGTTAAAAGCCTCGCGCCCTTCCGCGGAGACTCCCAGGAACACCCGAA
GAACTCTTCCACCTGCAGCCCCCTTTTGCCTGGCAGTTCTGCATTGCATCTCATGGAAGTGGAAACAGGAAAATAAAAATGTTCAAACTCCTTGGATGTT
GGGATAAACTCACCTGAACCCACTTGGGTTCGGGCTGCCTCCTTCTCTTCCTTCATTGCCACCTTTCCTCTGTGTGGCTCCCGGGAGTGTGCGGTTAAGT
CATCAGACTCGAAGTGCCTAGAGATCCGGAGGAAGCCGCGCCGGTCTTCCCCTGACATGCGTGGCATGCCGGGGCTCCGTAGGAGGTTTGCTATACCTGG
GAGGACCCTGGCATTCTAAATTTCAGCTCCGGGAAAGAGAAGGGGCTTTTTGCCTTTTATCTTTTTTTTTTCTTTCTTTAAGTAGTAATTTTTTAACTGA
TTCATTGTTTGGAAAGCGCATATTGCTTCCCTCTTCCCCGAATTCTGGCAACTCTTCCTCCTGCTATGATGGGCCCTTGGGCATCATGAACTTCATTACT
CCTCACTGGCTGGAATTCAAACTGCCCATCTGTAGTGGTCCCGTGCGTTGACCATGCACCTGAGAATCCACGCGAGACGGAGCCCTCCTCGCCGGCCGGC
CTGGACGCTTGGGATCTGGTTCCTGTTCTGGGGATGTATCGTCAGCTCTGTATGGAGTTCTTCTAATGTAGCTTCCTCCTCCTCCACCTCTTCCTCGCCG
GGGTCTCACTCTCAGCACGAGCACCATTTCCATGGCAGCAAGCATCACTCAGTGCCTATTTCTATCTATCGTTCCCCTGTTTCCCTTCGAGGAGGACACG
CTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGGCCCAGCACGCGGTCTGACCGCCTTGCCGTGGG
CTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAGCTTCACATAGAACAGGGGAAAATTGGA
GTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTGGTACGCTTCACCAGGAACGGCG
GCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAGCCATTGG
TGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCCCAATATT
AAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACTGTCATGG
AAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTGAATGTTC
AAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGGAGGTGAATTAGTTATCCCTCTTCTTGTAGAAGACCCTTTAGCTACCCCTCCTATTGCT
ACTCGTGCACCTTCCATTACACTCCCCCCTACCTTTCGCCCCCTCCTCACCATTATTGAGACCACCAAAGATTCCCTGTCCATGACCTCTGAGGCGGGGT
TACCTTGCTTGTCGGACCAAGGCAGCGATGGTTGTGATGATGATGGCTTGGTGATATCTGGGTATGGCTCAGGGGAAACCTTTGACTCTAACCTGCCCCC
TACTGATGATGAAGATTTTTACACCACCTTCTCCTTGGTAACAGATAAGAGTCTTTCCACTTCAATCTTCGAAGGTGGCTACAAAGCACATGCGCCCAAG
TGGGAATCCAAGGACTTTAGACCTAACAAAGTCTCCGAAACTAGTAGGACTACTACCACATCTTTATCCCCTGAGCTGATCCGCTTCACAGCTTCCTCCT
CGTCTGGGATGGTGCCCAAATTGCCAGCTGGCAAAATGAATAACCGTGATCTCAAACCCCAGCCTGATATAGTCTTGCTTCCGTTGCCCACTGCCTATGA
GCTAGACAGCACCAAACTGAAGAGCCCACTAATTACTTCCCCCATGTTCCGTAATGTGCCCACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCG
GGGGCCTCAGAGGTGATCCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTCCTGTACGCCA
TGTACAAGTACAGGAACAGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGCTCATGAAGGA
GAAGCAGCAGAGCTCGAAGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGCGAGTTTTCAC
AGTTATTTCTATCCACGCCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCACGACTCTGGT
GGGGAAAACCGTTTTTTAAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGTCGCTGGGAGA
CAGAAGGTTTTGTGCCCTGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAACTTCCTTCTC
CGGAGGACCTTTTACTAAAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTGTAACCATGTT
TTTTCTGTTTAATTATGTAAAAAACAAAACTAC


Protein Sequence     (SEQ ID NO:321):
MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFHGSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTW
PANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPT
GRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTA
SIQPTSDDLVSSAECSSDDEDFVECEPSTGGELVIPLLVEDPLATPPIATRAPSITLPPTFRPLLTIIETTKDSLSMTSEAGLPCLSDQGSDGCDDDGLV
ISGYGSGETFDSNLPPTDDEDFYTTFSLVTDKSLSTSIFEGGYKAHAPKWESKDFRPNKVSETSRTTTTSLSPELIRFTASSSSGMVPKLPAGKMNNRDL
KPQPDIVLLPLPTAYELDSTKLKSPLITSPMFRNVPTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETR
NYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1325):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      1793
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:321, 280,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1326):
GGACTTTAGACCTAACAAAGTCTCCGAAACTAGTAGGACTACTACCACATCTTTATCCCCTGAGCTGATCCGCTTCACAGCTTCCTCCTCGTCTGGGATG
K
TGCCCAAATTGCCAGCTGGCAAAATGAATAACCGTGATCTCAAACCCCAGCCTGATATAGTCTTGCTTCCGTTGCCCACTGCCTATGAGCTAGACAGCAC
Celera SNP ID:                hCV25932242
SNP Position Transcript:      2412
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:321, 487,(V,GTG) (L,TTG)



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT2328988 - 208000027225735
Public Transcript Accession:  NM_138970
Celera Protein:               hCP1867418 - 208000027225763
Public Protein Accession:     NP_620426
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:61):
ATATGACTTGCCCATTTGTGAATTTGGCTCCCCAACTCCTCGCTTCACTTCACCTGTGCCTCCCTGGTCCGCGCACTTCGCAGGCGCCCGCCCGCCTCTC
GGCCACCTCTGCAGCCTGCCAGGCACCTCCTCTTGCGCTCTCGCTGATTTCGCCCACCCACCTCCCTCCACCCCGTGCCACGTTGGTTTGGGTGGCTGCT
CCGCACCGGGTTCCTCCTCCTCTCCTCTTTCCCTCCAGTCCTTCTTATTCTCTTCCTCTGGCTGCGGTGGCTGCTGCTGCTGCTGGTTTTCATCCAGTTG
GGAAACCCAGGAAGCCGGCGGCTGCTCCGTGGCGCTAGTCCAGCACGCCCAGGGTTAAAAGCCTCGCGCCCTTCCGCGGAGACTCCCAGGAACACCCGAA
GAACTCTTCCACCTGCAGCCCCCTTTTGCCTGGCAGTTCTGCATTGCATCTCATGGAAGTGGAAACAGGAAAATAAAAATGTTCAAACTCCTTGGATGTT
GGGATAAACTCACCTGAACCCACTTGGGTTCGGGCTGCCTCCTTCTCTTCCTTCATTGCCACCTTTCCTCTGTGTGGCTCCCGGGAGTGTGCGGTTAAGT
CATCAGACTCGAAGTGCCTAGAGATCCGGAGGAAGCCGCGCCGGTCTTCCCCTGACATGCGTGGCATGCCGGGGCTCCGTAGGAGGTTTGCTATACCTGG
GAGGACCCTGGCATTCTAAATTTCAGCTCCGGGAAAGAGAAGGGGCTTTTTGCCTTTTATCTTTTTTTTTTCTTTCTTTAAGTAGTAATTTTTTAACTGA
TTCATTGTTTGGAAAGCGCATATTGCTTCCCTCTTCCCCGAATTCTGGCAACTCTTCCTCCTGCTATGATGGGCCCTTGGGCATCATGAACTTCATTACT
CCTCACTGGCTGGAATTCAAACTGCCCATCTGTAGTGGTCCCGTGCGTTGACCATGCACCTGAGAATCCACGCGAGACGGAGCCCTCCTCGCCGGCCGGC
CTGGACGCTTGGGATCTGGTTCCTGTTCTGGGGATGTATCGTCAGCTCTGTATGGAGTTCTTCTAATGTAGCTTCCTCCTCCTCCACCTCTTCCTCGCCG
GGGTCTCACTCTCAGCACGAGCACCATTTCCATGGCAGCAAGCATCACTCAGTGCCTATTTCTATCTATCGTTCCCCTGTTTCCCTTCGAGGAGGACACG
CTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGGCCCAGCACGCGGTCTGACCGCCTTGCCGTGGG
CTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAGCTTCACATAGAACAGGGGAAAATTGGA
GTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTGGTACGCTTCACCAGGAACGGCG
GCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCAACACTGATAATGAACGCTTCCAAATGGTAAAACAGAAAATCCC
CTTCAAATATAATCGGCCTGTAGAGGAGTGGCTGCAGGAAAAAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAGCCATTGGTGGAAAGGAC
AAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCCCAATATTAAAATCAATG
GAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACTGTCATGGAAACCACTAC
TACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTGAATGTTCAAGTGATGAT
GAAGACTTTGTTGAATGTGAGCCGAGTACAGCCAGAAGCTCTAATGCAGCTAGATCACTCCGTGCCGCCCTTACATGGACATGGCGACTCACTTACACAT
TTACTCCTATCATCTTCATCTCCTGTGTAGTTCACTCATAGATATGACCCTCCCCTTCCTGCATCTTTCCTTCCCATTCTCCCCCTTTCTTTAGCATTGT
TAAAATTTATGTGCTGTCATCCATCTCCCTAAATTAAAGAAAGCCTAAAATTTGTCAAAAAGACAAAAAAATATATATATCTGAAAACTTATAAATGCAG
AAATTCATTCAAAACCCGTTAGAGTCATAGAATTTTTTGAAAGGCAAATTATAAAAGTAAACAGGTTTTTTTGTTTGGTTTTTCAATCATAGCAATCGGA
ATTATTTTAAATTCAAAAATTGATGCCCTCCCAAACCCCCCAAAGTAAAAATTTGTTAAAGTGCAGATTTTTTTTTTCTTTTTATGTTATGTGGTGTGGA
TGTATGTGTTGTTGCCTCCCTGTATCATCCTCTGTTGTAAATTATTATATTTGAAAAATTAGACATTTTGCTCAAAAGTTTTTAAGAAATGACAACAAAA
AAAGCAAGTTACAAGAATGTGGCAATTCTATTTGTCCAAGAGCATTCTTACACAACTTTCTTTTGTAAATTTTTCTTTCATGCCAAAAAACATGCGGGCA
ATTTGTTGATGAGGTGAATTAGTTATCCCTCTTCTTGTAGAAGACCCTTTAGCTACCCCTCCTATTGCTACTCGTGCACCTTCCATTACACTCCCCCCTA
CCTTTCGCCCCCTCCTCACCATTATTGAGACCACCAAAGATTCCCTGTCCATGACCTCTGAGGCGGGGTTACCTTGCTTGTCGGACCAAGGCAGCGATGG
TTGTGATGATGATGGCTTGGTGATATCTGGGTATGGCTCAGGGGAAACCTTTGACTCTAACCTGCCCCCTACTGATGATGAAGATTTTTACACCACCTTC
TCCTTGGTAACAGATAAGAGTCTTTCCACTTCAATCTTCGAAGGTGGCTACAAAGCACATGCGCCCAAGTGGGAATCCAAGGACTTTAGACCTAACAAAG
TCTCCGAAACTAGTAGGACTACTACCACATCTTTATCCCCTGAGCTGATCCGCTTCACAGCTTCCTCCTCGTCTGGGATGGTGCCCAAATTGCCAGCTGG
CAAAATGAATAACCGTGATCTCAAACCCCAGCCTGATATAGTCTTGCTTCCGTTGCCCACTGCCTATGAGCTAGACAGCACCAAACTGAAGAGCCCACTA
ATTACTTCCCCCATGTTCCGTAATGTGCCCACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGTGATCCGGGAGTCGAGCA
GCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTCCTGTACGCCATGTACAAGTACAGGAACAGGGACGAGGGGTC
CTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGCTCATGAAGGAGAAGCAGCAGAGCTCGAAGAGCGGCCACAAG
AAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGCGAGTTTTCACAGTTATTTCTATCCACGCCTATGAATCTTTG
GACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCACGACTCTGGTGGGGAAAACCGTTTTTTAAAGGACACACACA
CACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGTCGCTGGGAGACAGAAGGTTTTGTGCCCTGCTGTATCATAAA
GCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAACTTCCTTCTCCGGAGGACCTTTTACTAAAAGGTAGAAGACT
TCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTGTAACCATGTTTTTTCTGTTTAATTATGTAAAAAACAAAACT
AC


Protein Sequence     (SEQ ID NO:322):
MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFHGSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTW
PANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPT
GNTDNERFQMVKQKIPFKYNRPVEEWLQEKGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQT
TSMPPEMSTTVMETTTTMATTTTRKNRSTASIQPTSDDLVSSAECSSDDEDFVECEPSTARSSNAARSLRAALTWTWRLTYTFTPIIFISCVVHS*



SNP Information


Context              (SEQ ID NO:1327):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      1883
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:322, 310,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1328):
TTTGAAAGGCAAATTATAAAAGTAAACAGGTTTTTTTGTTTGGTTTTTCAATCATAGCAATCGGAATTATTTTAAATTCAAAAATTGATGCCCTCCCAAA
Y
CCCCCAAAGTAAAAATTTGTTAAAGTGCAGATTTTTTTTTTCTTTTTATGTTATGTGGTGTGGATGTATGTGTTGTTGCCTCCCTGTATCATCCTCTGTT
Celera SNP ID:                hCV16185222
SNP Position Transcript:      2436
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:322, None



Context              (SEQ ID NO:1329):
GGACTTTAGACCTAACAAAGTCTCCGAAACTAGTAGGACTACTACCACATCTTTATCCCCTGAGCTGATCCGCTTCACAGCTTCCTCCTCGTCTGGGATG
K
TGCCCAAATTGCCAGCTGGCAAAATGAATAACCGTGATCTCAAACCCCAGCCTGATATAGTCTTGCTTCCGTTGCCCACTGCCTATGAGCTAGACAGCAC
Celera SNP ID:                hCV25932242
SNP Position Transcript:      3181
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:322, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT2328993 - 208000027225771
Public Transcript Accession:  NM_004796
Celera Protein:               hCP1867419 - 208000027225762
Public Protein Accession:     NP_004787
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:62):
CAGGACTGGAGGGCTTGAGGAATGTGGTGGTCCCTCTCTTCGTTGTTTCTGCCCCCTGAGGTTGTGCTTTCTCAGGGATATGCACTCTGCACTTCCATTC
CTGCAGTGAAATTAACTCGAGCTTGGCAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCGATC
CAGAGCAGCAGTGATGAAATCACCCTCTCCTTTAAGACCTGGCAGCGTAACGGCCTCATCCTGCACACGGGCAAGTCGGCTGACTATGTCAACCTGGCTC
TGAAGGATGGTGCGGTCTCCTTGGTCATTAACCTGGGGTCCGGGGCCTTTGAGGCCATTGTGGAGCCAGTGAATGGAAAATTCAACGACAACGCCTGGCA
TGATGTCAAAGTGACACGCAACCTCCGGCAGGTGACAATCTCTGTGGATGGCATTCTTACCACGACGGGCTACACTCAAGAGGACTATACCATGCTGGGC
TCGGACGACTTCTTCTATGTAGGAGGAAGCCCAAGTACCGCTGACTTGCCTGGCTCCCCTGTCAGCAACAACTTCATGGGCTGCCTTAAAGAGGTTGTTT
ATAAGAATAATGACATCCGTCTGGAGCTGTCTCGCCTGGCCCGGATTGCGGACACCAAGATGAAAATCTATGGCGAAGTTGTGTTTAAGTGTGAGAATGT
GGCCACACTGGACCCCATCAACTTTGAGACCCCAGAGGCTTACATCAGCTTGCCCAAGTGGAACACTAAACGTATGGGCTCCATCTCCTTTGACTTCCGC
ACCACAGAGCCCAATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCG
TGGAACTCCTCGATGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTA
CCATGTGGACATTCAGCGAGATGGCAGATCAGGTACTATATCAGTGAACAGCAGGCGCACGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTG
GAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCACCGAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCT
GCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGCAGAATGCTGCGGGTGTCAAGTCCTCCTGTTCACGGATGAG
TGCCAAGCAGTGTGACAGCTACCCCTGCAAGAATAATGCTGTGTGCAAGGACGGCTGGAACCGCTTCATCTGCGACTGCACCGGCACCGGATACTGGGGA
AGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGT
CCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGT
CAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAACGAGTGGCACACCGTTCGGGTGGTGCGGAGAGGA
AAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTTTGGAGTTCCACAACATTGAAACGGGAATCATGA
CTGAGAAACGCTACATCTCCGTTGTCCCCTCCAGCTTTATTGGCCATCTGCAGAGCCTCATGTTTAATGGCCTTCTCTACATTGACTTGTGCAAAAATGG
TGACATTGATTATTGTGAGCTGAAGGCTCGTTTTGGACTGAGGAACATCATCGCTGACCCTGTCACCTTTAAGACCAAGAGCAGCTACCTGAGCCTTGCC
ACTCTTCAGGCTTACACCTCCATGCACCTCTTCTTCCAGTTCAAGACCACCTCACCAGATGGCTTCATTCTCTTCAATAGTGGTGATGGCAATGACTTCA
TTGCAGTCGAGCTTGTCAAGGGGTATATACACTACGTTTTTGACCTCGGAAACGGTCCCAATGTGATCAAAGGCAACAGTGACCGCCCCCTGAATGACAA
CCAGTGGCACAATGTCGTCATCACTCGGGACAATAGTAACACTCATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAAAAT
CTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGGCATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCTGTC
TAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATGATGCTCTTCATCGGAGCGGACAGATCGAGCGTGGCTGTGAAGGACCCAGTACCAC
CTGCCAGGAAGATTCATGTGCCAACCAGGGGGTCTGCATGCAACAATGGGAGGGCTTCACCTGTGATTGTTCTATGACCTCTTATTCTGGAAACCAGTGC
AATGATCCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGGCCCAGCACGCGGTCTGACCGCCTTG
CCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAGCTTCACATAGAACAGGGGAA
AATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTGGTACGCTTCACCAGG
AACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAG
CCATTGGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCC
CAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACT
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
AATGTTCAAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGTGAT
CCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTCCTGTACGCCATGTACAAGTACAGGAAC
AGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGCTCATGAAGGAGAAGCAGCAGAGCTCGA
AGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGCGAGTTTTCACAGTTATTTCTATCCACG
CCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCACGACTCTGGTGGGGAAAACCGTTTTTT
AAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGTCGCTGGGAGACAGAAGGTTTTGTGCCC
TGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAACTTCCTTCTCCGGAGGACCTTTTACTA
AAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTGTAACCATGTTTTTTCTGTTTAATTATG
TAAAAAACAAAACTACAACAACAAAAAAAGAAAAAAGTTAAAAAAGAAAAAAACACCAAAAAACAAAAACAAACAAAAAAAAAAACCCACAACCCTTATC
TGGTTCTGACCAGTGTGCGTGTAACTTTATGATCTGAGGGGAAAAATGGCTTTTGGGTTTTTGTTTATTTTTTTGATAATGACTGGACATCAGAAGAGGA
AAAAAACTCAAAACAAAAGCGAGAGAGACTATTGCCATATGAACTCAAAAGCTATCATGGTGTTCACTCTACATATCAGGTTATGGTGTCTCTAGAATCT
GTTGTTTGTTTCCTATAAGATGCTTTGCTGAACACATAGCAAAATTCATGTGACGGATGATAAATTGATTCGAAAAGCTGGTCCCCCAGGATCTAATTTC
AGAATTTACCACCCAAACCCGGAACAGATGGGTTTAGGGCTGGTGTTATCAGAGCTATTGGCTTTACGTAACAATATTGTTCCTGTCCATTCACCCAGCC
AAATTGTGTTAAAGAGGAAAGCCCCACAAACTAAAACAGCCTTTCCTAGGGAAGAGGAAGGGGAGGTGGGCTGGATCTGTGACTGATTGAAATGCATGCA
AATAAAAAAGACAATATTAAAGTCTGTTATCAAACCAGACAGTAGGGGAGTTCAACTCGTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATG
CCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAGTGGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCC
TTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAGCTGCTGTGACACACACACAAAAGGAATTTAATAGTATAATA
TATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTTAAAATGGAATGAGAAT
GTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTAACTGTGTCAAAGAGA
ATTAAAAAAAAAAACTTCAGATTTTGTTTACATATTTTACTACATTTTTGCTGGTATAATTCCTTAGCCACCTATGTACATACTGCTTTAAGAAATGTTT
TTTTCCTGTTTATTTCTGTTTGGTTTATATTCTGGTTGTCTTTTTCTTTTTGTAAAGAGGAAACAATGTACAGAAAAACAATAAACTGGTTGTATGGCCA
TAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCATATATACAATTTCTTTTGTACAGATG
AAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGAAAAAATATCTTAACGACATGGGGCA
AAAAGTGCAATCTAAATGGTAGCCTTTACTAATGTGTGTGGAAAGAGGTGTTCCTCATTATCTAATATTTCAATGTGTTAAGAGTTTAATTTTTTTGTTA
TCATTAAAAAAGACAGGATTATAAAGAGATATCAAAGCACGATTTTAGATAACCTAAACGGCCCAGCCTATACGAAGTTGATTATATCTCGATGTCTGTA
AAAGATTGCTGTTCTTGGAGTCTTGAGGTCTTGTGAATTGATTTCCTGCTTTCTTTCATTTTTTTCAATTTAAGTAATAATACATTTGTTATATTCCTTT
CAGTGTAAGTTTCTATTTGGACAATTTTATGGGAACATGTGCATTCTCTATGTGAGCTTCTATCATATTCCTGTTTTATTAGCAGAACCTAAAGGAATTT
ATTTAATGATGTTGTGACATTACTGCTTTTTCTTTTTTCTTTTCTTAGTTCATATTTGCATTTTCGTTCAAGGATATGCTTAGCAATAAAATGTTCTTCC
C


Protein Sequence     (SEQ ID NO:323):
MLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDIRLELSRLARIADTKMKIYGEVVFKCENVATLDPINFETPEAYISLPKWNTKRMGSISF
DFRTTEPNGLILFTHGKPQERKDARSQKNTKVDFFAVELLDGNLYLLLDMGSGTIKVKATQKKANDGEWYHVDIQRDGRSGTISVNSRRTPFTASGESEI
LDLEGDMYLGGLPENRAGLILPTELWTAMLNYGYVGCIRDLFIDGRSKNIRQLAEMQNAAGVKSSCSRMSAKQCDSYPCKNNAVCKDGWNRFICDCTGTG
YWGRTCEREASILSYDGSMYMKIIMPMVMHTEAEDVSFRFMSQRAYGLLVATTSRDSADTLRLELDGGRVKLMVNLGKGPETLYAGQKLNDNEWHTVRVV
RRGKSLKLTVDDDVAEGTMVGDHTRLEFHNIETGIMTEKRYISVVPSSFIGHLQSLMFNGLLYIDLCKNGDIDYCELKARFGLRNIIADPVTFKTKSSYL
SLATLQAYTSMHLFFQFKTTSPDGFILFNSGDGNDFIAVELVKGYIHYVFDLGNGPNVIKGNSDRPLNDNQWHNVVITRDNSNTHSLKVDTKVVTQVING
AKNLDLKGDLYMAGLAQGMYSNLPKLVASRDGFQGCLASVDLNGRLPDLINDALHRSGQIERGCEGPSTTCQEDSCANQGVCMQQWEGFTCDCSMTSYSG
NQCNDPGATYIFGKSGGLILYTWPANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVR
FTRNGGNATLQVDNWPVNEHYPTGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEM
STTVMETTTTMATTTTRKNRSTASIQPTSDDLVSSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYK
YRNRDEGSYQVDETRNYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1330):
TGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGC
Y
GACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACA
Celera SNP ID:                hDV70874226
SNP Position Transcript:      1565
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 358,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1331):
ATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGG
S
ATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATG
Celera SNP ID:                hCV30252379
SNP Position Transcript:      2345
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 618,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1332):
ACTGGGGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGA
R
GATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGG
Celera SNP ID:                hCV25935182
SNP Position Transcript:      1493
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,3|G,33)  total(A,3|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 334,(E,GAG) (E,GAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 334,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1333):
TGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTAC
R
ACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAG
Celera SNP ID:                hCV16183690
SNP Position Transcript:      1547
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,4) ; no_pop(G,-|A,-) ; no_pop(G,232|A,
8)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 352,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1334):
ACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAA
Y
GAGTGGCACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTT
Celera SNP ID:                hCV25940509
SNP Position Transcript:      1667
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,33|T,5)  total(C,73|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 392,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1335):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      3200
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 903,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1336):
CGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCAC
Y
GAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGC
Celera SNP ID:                hCV16183691
SNP Position Transcript:      1160
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2914|T,226) ; no_pop(C,-|T,-) ; no_pop(C,792|T,152)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:323, 223,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1337):
GGCTTGAGGAATGTGGTGGTCCCTCTCTTCGTTGTTTCTGCCCCCTGAGGTTGTGCTTTCTCAGGGATATGCACTCTGCACTTCCATTCCTGCAGTGAAA
Y
TAACTCGAGCTTGGCAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCGATCCAGAGCAGCAGT
Celera SNP ID:                hDV70873666
SNP Position Transcript:      112
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:323, None



Context              (SEQ ID NO:1338):
AATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCGTGGAACTCCTCG
K
TGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTACCATGTGGACATT
Celera SNP ID:                hCV25939532
SNP Position Transcript:      913
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:323, 141,(A,GCT) (V,GTT)



Context              (SEQ ID NO:1339):
GTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAG
W
GGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAG
Celera SNP ID:                hCV31754640
SNP Position Transcript:      4859
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:323, None



Context              (SEQ ID NO:1340):
CAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTT
A
AAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGT
Celera SNP ID:                hCV26928391
SNP Position Transcript:      5077
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:323, None



Context              (SEQ ID NO:1341):
AAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTA
A
AGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTC
Celera SNP ID:                hCV26928392
SNP Position Transcript:      5078
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:323, None



Context              (SEQ ID NO:1342):
ATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTT
R
AAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTA
Celera SNP ID:                hCV26928393
SNP Position Transcript:      5085
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:323, None



Context              (SEQ ID NO:1343):
AAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCA
K
ATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGA
Celera SNP ID:                hCV31754644
SNP Position Transcript:      5475
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:323, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT2328995 - 208000027225723
Public Transcript Accession:  NM_004796
Celera Protein:               hCP1867410 - 208000027225760
Public Protein Accession:     NP_004787
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:63):
CCCAAAGAGGAAACATACCCAGCAAACTCAGTTGATTAAACATCAAACAGACATACAGACAGATCCCAAATCTTCTGTTCAACTGGAAAGGTCTTTTCTC
TGGAGTCCTGGGAGGCAAGTTATGGGCAGCACTGCTTCTGGCCGCACCATGAAGCCTGAGTCTGCTTGCGCTCTGCCCAGGGCCCTGCTCTGTCTGAGCA
TTGGGCTTCTAGCTGCCCCCCTCCCCACAGCCTGCCGCTGCTAGGAGGTAGAACTTTAGGAGTGGTCCTTGGCCTGTTTCTACCTGTCACCTGGCTCACC
TCACCACTCACTCCTCCTCCATCACAGCACCCCGGCCCTCCCTGTCCCTGGCCTCCCTGGCTGGGGCATTTGGGGGTCCGCTGGGAGGAGTGCATCGCTG
AAGGCTTCTTCCTACTCTCCTGCACCTTCTCCTCCTTGAGTCAAGGCCTCCGGATCCACATGGATAGCTGAGATCTTTTCTTGGAGAAAGACGCTTTCCT
CTTTACTCCAGTCCCTCACTTCCCCACCTGATTTTCCTCCTCTTCTGCTGGTCCTGTCTTTTTCTACTGCCTCTTTATTCAATTTCTTGCTTGTGTGCCC
CTCTGGGACTCTCTTGTACACTTTCCTCCATCTCCACTATCTCAGGATCTGTGTGTGTGCTGCCTTCCTCCTGTGTGCTTTCTGTCCCCCCATCTCTGTC
TTGTCTTTCCCACTTCTATTGCCAAAGGGAGAGATCCTCTCCGGGCTGTTCCCTGGCCTGTCTGCTCCTCCGGGCTCTGTCCCAGCAGCGACAATGAGCT
CCACACTCCACTCGGTTTTCTTCACCCTGAAGGTCAGCATCCTGCTGGGGTCCCTGCTGGGGCTCTGCCTGGGCCTTGAGTTCATGGGCCTCCCCAACCA
GTGGGCCCGCTACCTCCGCTGGGATGCCAGCACACGCAGTGACCTGAGTTTCCAGTTCAAGACCAACGTCTCTACGGGGCTGCTCCTCTACCTGGATGAT
GGCGGCGTCTGCGACTTCCTATGCCTCTCCCTGGTGGATGGCCGCGTTCAGCTCCGCTTCAGCATGGACTGTGCCGAGACTGCCGTGCTGTCCAACAAGC
AGGTGAATGACAGCAGCTGGCACTTCCTCATGGTGAGCCGTGACCGCCTGCGCACGGTGCTGATGCTTGATGGCGAGGGCCAGTCTGGGGAGCTGCAGCC
CCAGCGGCCCTACATGGATGTGGTCAGTGACTTGTTCCTTGGTGGAGTCCCTACTGACATACGACCTTCTGCCCTGACCCTTGATGGAGTTCAGGCCATG
CCCGGCTTCAAGGGGTTAATTCTGGATCTCAAGTATGGAAACTCGGAGCCTCGGCTTCTGGGGAGCCGGGGTGTCCAGATGGATGCCGAGGGACCCTGTG
GTGAGCGTCCCTGTGAAAATGGTGGGATCTGCTTTCTCCTGGACGGCCACCCCACCTGTGACTGTTCTACCACTGGCTATGGTGGCAAGCTCTGCTCAGA
AGGCCTCTCCCACCTCATGATGAGTGAACAAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCG
ATCCAGAGCAGCAGTGATGAAATCACCCTCTCCTTTAAGACCTGGCAGCGTAACGGCCTCATCCTGCACACGGGCAAGTCGGCTGACTATGTCAACCTGG
CTCTGAAGGATGGTGCGGTCTCCTTGGTCATTAACCTGGGGTCCGGGGCCTTTGAGGCCATTGTGGAGCCAGTGAATGGAAAATTCAACGACAACGCCTG
GCATGATGTCAAAGTGACACGCAACCTCCGGCAGGTGACAATCTCTGTGGATGGCATTCTTACCACGACGGGCTACACTCAAGAGGACTATACCATGCTG
GGCTCGGACGACTTCTTCTATGTAGGAGGAAGCCCAAGTACCGCTGACTTGCCTGGCTCCCCTGTCAGCAACAACTTCATGGGCTGCCTTAAAGAGGTTG
TTTATAAGAATAATGACATCCGTCTGGAGCTGTCTCGCCTGGCCCGGATTGCGGACACCAAGATGAAAATCTATGGCGAAGTTGTGTTTAAGTGTGAGAA
TGTGGCCACACTGGACCCCATCAACTTTGAGACCCCAGAGGCTTACATCAGCTTGCCCAAGTGGAACACTAAACGTATGGGCTCCATCTCCTTTGACTTC
CGCACCACAGAGCCCAATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTG
CCGTGGAACTCCTCGATGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATG
GTACCATGTGGACATTCAGCGAGATGGCAGATCAGGTACTATATCAGTGAACAGCAGGCGCACGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGAC
CTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCACCGAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGG
GCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGCAGAATGCTGCGGGTGTCAAGTCCTCCTGTTCACGGAT
GAGTGCCAAGCAGTGTGACAGCTACCCCTGCAAGAATAATGCTGTGTGCAAGGACGGCTGGAACCGCTTCATCTGCGACTGCACCGGCACCGGATACTGG
GGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATG
TGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCG
TGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAACGAGTGGCACACCGTTCGGGTGGTGCGGAGA
GGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTTTGGAGTTCCACAACATTGAAACGGGAATCA
TGACTGAGAAACGCTACATCTCCGTTGTCCCCTCCAGCTTTATTGGCCATCTGCAGAGCCTCATGTTTAATGGCCTTCTCTACATTGACTTGTGCAAAAA
TGGTGACATTGATTATTGTGAGCTGAAGGCTCGTTTTGGACTGAGGAACATCATCGCTGACCCTGTCACCTTTAAGACCAAGAGCAGCTACCTGAGCCTT
GCCACTCTTCAGGCTTACACCTCCATGCACCTCTTCTTCCAGTTCAAGACCACCTCACCAGATGGCTTCATTCTCTTCAATAGTGGTGATGGCAATGACT
TCATTGCAGTCGAGCTTGTCAAGGGGTATATACACTACGTTTTTGACCTCGGAAACGGTCCCAATGTGATCAAAGGCAACAGTGACCGCCCCCTGAATGA
CAACCAGTGGCACAATGTCGTCATCACTCGGGACAATAGTAACACTCATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAA
AATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGGCATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCT
GTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATGATGCTCTTCATCGGAGCGGACAGATCGAGCGTGGCTGTGAAGGACCCAGTAC
CACCTGCCAGGAAGATTCATGTGCCAACCAGGGGGTCTGCATGCAACAATGGGAGGGCTTCACCTGTGATTGTTCTATGACCTCTTATTCTGGAAACCAG
TGCAATGATCCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGGCCCAGCACGCGGTCTGACCGCC
TTGCCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAGCTTCACATAGAACAGGG
GAAAATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTGGTACGCTTCACC
AGGAACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAA
TAGCCATTGGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAA
CCCCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACT
ACTGTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTG
CTGAATGTTCAAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGT
GATCCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTCCTGTACGCCATGTACAAGTACAGG
AACAGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGCTCATGAAGGAGAAGCAGCAGAGCT
CGAAGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGCGAGTTTTCACAGTTATTTCTATCC
ACGCCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCACGACTCTGGTGGGGAAAACCGTTT
TTTAAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGTCGCTGGGAGACAGAAGGTTTTGTG
CCCTGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAACTTCCTTCTCCGGAGGACCTTTTA
CTAAAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTGTAACCATGTTTTTTCTGTTTAATT
ATGTAAAAAACAAAACTACAACAACAAAAAAAGAAAAAAGTTAAAAAAGAAAAAAACACCAAAAAACAAAAACAAACAAAAAAAAAAACCCACAACCCTT
ATCTGGTTCTGACCAGTGTGCGTGTAACTTTATGATCTGAGGGGAAAAATGGCTTTTGGGTTTTTGTTTATTTTTTTGATAATGACTGGACATCAGAAGA
GGAAAAAAACTCAAAACAAAAGCGAGAGAGACTATTGCCATATGAACTCAAAAGCTATCATGGTGTTCACTCTACATATCAGGTTATGGTGTCTCTAGAA
TCTGTTGTTTGTTTCCTATAAGATGCTTTGCTGAACACATAGCAAAATTCATGTGACGGATGATAAATTGATTCGAAAAGCTGGTCCCCCAGGATCTAAT
TTCAGAATTTACCACCCAAACCCGGAACAGATGGGTTTAGGGCTGGTGTTATCAGAGCTATTGGCTTTACGTAACAATATTGTTCCTGTCCATTCACCCA
GCCAAATTGTGTTAAAGAGGAAAGCCCCACAAACTAAAACAGCCTTTCCTAGGGAAGAGGAAGGGGAGGTGGGCTGGATCTGTGACTGATTGAAATGCAT
GCAAATAAAAAAGACAATATTAAAGTCTGTTATCAAACCAGACAGTAGGGGAGTTCAACTCGTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTC
ATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAGTGGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTG
TCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAGCTGCTGTGACACACACACAAAAGGAATTTAATAGTATA
ATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTTAAAATGGAATGAG
AATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTAACTGTGTCAAAG
AGAATTAAAAAAAAAAACTTCAGATTTTGTTTACATATTTTACTACATTTTTGCTGGTATAATTCCTTAGCCACCTATGTACATACTGCTTTAAGAAATG
TTTTTTTCCTGTTTATTTCTGTTTGGTTTATATTCTGGTTGTCTTTTTCTTTTTGTAAAGAGGAAACAATGTACAGAAAAACAATAAACTGGTTGTATGG
CCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCATATATACAATTTCTTTTGTACAG
ATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGAAAAAATATCTTAACGACATGGG
GCAAAAAGTGCAATCTAAATGGTAGCCTTTACTAATGTGTGTGGAAAGAGGTGTTCCTCATTATCTAATATTTCAATGTGTTAAGAGTTTAATTTTTTTG
TTATCATTAAAAAAGACAGGATTATAAAGAGATATCAAAGCACGATTTTAGATAACCTAAACGGCCCAGCCTATACGAAGTTGATTATATCTCGATGTCT
GTAAAAGATTGCTGTTCTTGGAGTCTTGAGGTCTTGTGAATTGATTTCCTGCTTTCTTTCATTTTTTTCAATTTAAGTAATAATACATTTGTTATATTCC
TTTCAGTGTAAGTTTCTATTTGGACAATTTTATGGGAACATGTGCATTCTCTATGTGAGCTTCTATCATATTCCTGTTTTATTAGCAGAACCTAAAGGAA
TTTATTTAATGATGTTGTGACATTACTGCTTTTTCTTTTTTCTTTTCTTAGTTCATATTTGCATTTTCGTTCAAGGATATGCTTAGCAATAAAATGTTCT
TCCC


Protein Sequence     (SEQ ID NO:324):
MSSTLHSVFFTLKVSILLGSLLGLCLGLEFMGLPNQWARYLRWDASTRSDLSFQFKTNVSTGLLLYLDDGGVCDFLCLSLVDGRVQLRFSMDCAETAVLS
NKQVNDSSWHFLMVSRDRLRTVLMLDGEGQSGELQPQRPYMDVVSDLFLGGVPTDIRPSALTLDGVQAMPGFKGLILDLKYGNSEPRLLGSRGVQMDAEG
PCGERPCENGGICFLLDGHPTCDCSTTGYGGKLCSEGLSHLMMSEQAREENVATFRGSEYLCYDLSQNPIQSSSDEITLSFKTWQRNGLILHTGKSADYV
NLALKDGAVSLVINLGSGAFEAIVEPVNGKFNDNAWHDVKVTRNLRQVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLK
EVVYKNNDIRLELSRLARIADTKMKIYGEVVFKCENVATLDPINFETPEAYISLPKWNTKRMGSISFDFRTTEPNGLILFTHGKPQERKDARSQKNTKVD
FFAVELLDGNLYLLLDMGSGTIKVKATQKKANDGEWYHVDIQRDGRSGTISVNSRRTPFTASGESEILDLEGDMYLGGLPENRAGLILPTELWTAMLNYG
YVGCIRDLFIDGRSKNIRQLAEMQNAAGVKSSCSRMSAKQCDSYPCKNNAVCKDGWNRFICDCTGTGYWGRTCEREASILSYDGSMYMKIIMPMVMHTEA
EDVSFRFMSQRAYGLLVATTSRDSADTLRLELDGGRVKLMVNLGKGPETLYAGQKLNDNEWHTVRVVRRGKSLKLTVDDDVAEGTMVGDHTRLEFHNIET
GIMTEKRYISVVPSSFIGHLQSLMFNGLLYIDLCKNGDIDYCELKARFGLRNIIADPVTFKTKSSYLSLATLQAYTSMHLFFQFKTTSPDGFILFNSGDG
NDFIAVELVKGYIHYVFDLGNGPNVIKGNSDRPLNDNQWHNVVITRDNSNTHSLKVDTKVVTQVINGAKNLDLKGDLYMAGLAQGMYSNLPKLVASRDGF
QGCLASVDLNGRLPDLINDALHRSGQIERGCEGPSTTCQEDSCANQGVCMQQWEGFTCDCSMTSYSGNQCNDPGATYIFGKSGGLILYTWPANDRPSTRS
DRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPTGRQLTIFNTQ
AQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTASIQPTSDDLV
SSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETRNYISNSAQSNGTLMKEKQ
QSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1344):
TGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGC
Y
GACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACA
Celera SNP ID:                hDV70874226
SNP Position Transcript:      2968
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 725,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1345):
ATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGG
S
ATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATG
Celera SNP ID:                hCV30252379
SNP Position Transcript:      3748
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 985,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1346):
ACTGGGGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGA
R
GATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGG
Celera SNP ID:                hCV25935182
SNP Position Transcript:      2896
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,3|G,33)  total(A,3|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 701,(E,GAG) (E,GAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 701,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1347):
TGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTAC
R
ACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAG
Celera SNP ID:                hCV16183690
SNP Position Transcript:      2950
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,4) ; no_pop(G,-|A,-) ; no_pop(G,232|A,
8)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 719,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1348):
ACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAA
Y
GAGTGGCACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTT
Celera SNP ID:                hCV25940509
SNP Position Transcript:      3070
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,33|T,5)  total(C,73|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 759,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1349):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      4603
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 1270,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1350):
CCCGGCTTCAAGGGGTTAATTCTGGATCTCAAGTATGGAAACTCGGAGCCTCGGCTTCTGGGGAGCCGGGGTGTCCAGATGGATGCCGAGGGACCCTGTG
R
TGAGCGTCCCTGTGAAAATGGTGGGATCTGCTTTCTCCTGGACGGCCACCCCACCTGTGACTGTTCTACCACTGGCTATGGTGGCAAGCTCTGCTCAGAA
Celera SNP ID:                hCV25639661
SNP Position Transcript:      1401
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,20)  african american(A,5|G,23)  total(A,17|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:324, 203,(G,GGT) (D,GAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:324, 203,(G,GGT) (D,GAT)



Context              (SEQ ID NO:1351):
CGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCAC
Y
GAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGC
Celera SNP ID:                hCV16183691
SNP Position Transcript:      2563
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2914|T,226) ; no_pop(C,-|T,-) ; no_pop(C,792|T,152)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 590,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1352):
GTGCCGAGACTGCCGTGCTGTCCAACAAGCAGGTGAATGACAGCAGCTGGCACTTCCTCATGGTGAGCCGTGACCGCCTGCGCACGGTGCTGATGCTTGA
Y
GGCGAGGGCCAGTCTGGGGAGCTGCAGCCCCAGCGGCCCTACATGGATGTGGTCAGTGACTTGTTCCTTGGTGGAGTCCCTACTGACATACGACCTTCTG
Celera SNP ID:                hCV25639665
SNP Position Transcript:      1171
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,8|T,22)  african american(C,0|T,32)  total(C,8|T,54)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 126,(D,GAT) (D,GAC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,20|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:324, 126,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1353):
AATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCGTGGAACTCCTCG
K
TGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTACCATGTGGACATT
Celera SNP ID:                hCV25939532
SNP Position Transcript:      2316
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:324, 508,(A,GCT) (V,GTT)



Context              (SEQ ID NO:1354):
GTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAG
W
GGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAG
Celera SNP ID:                hCV31754640
SNP Position Transcript:      6262
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:324, None



Context              (SEQ ID NO:1355):
CAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTT
A
AAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGT
Celera SNP ID:                hCV26928391
SNP Position Transcript:      6480
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:324, None



Context              (SEQ ID NO:1356):
AAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTA
A
AGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTC
Celera SNP ID:                hCV26928392
SNP Position Transcript:      6481
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:324, None



Context              (SEQ ID NO:1357):
ATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTT
R
AAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTA
Celera SNP ID:                hCV26928393
SNP Position Transcript:      6488
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:324, None



Context              (SEQ ID NO:1358):
AAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCA
K
ATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGA
Celera SNP ID:                hCV31754644
SNP Position Transcript:      6878
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:324, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT2328997 - 208000027225698
Public Transcript Accession:  NM_004796
Celera Protein:               hCP1867404 - 208000027225765
Public Protein Accession:     NP_004787
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:64):
CAGGACTGGAGGGCTTGAGGAATGTGGTGGTCCCTCTCTTCGTTGTTTCTGCCCCCTGAGGTTGTGCTTTCTCAGGGATATGCACTCTGCACTTCCATTC
CTGCAGTGAAATTAACTCGAGCTTGGCAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCGATC
CAGAGCAGCAGTGATGAAATCACCCTCTCCTTTAAGACCTGGCAGCGTAACGGCCTCATCCTGCACACGGGCAAGTCGGCTGACTATGTCAACCTGGCTC
TGAAGGATGGTGCGGTCTCCTTGGTCATTAACCTGGGGTCCGGGGCCTTTGAGGCCATTGTGGAGCCAGTGAATGGAAAATTCAACGACAACGCCTGGCA
TGATGTCAAAGTGACACGCAACCTCCGGCAGGTGACAATCTCTGTGGATGGCATTCTTACCACGACGGGCTACACTCAAGAGGACTATACCATGCTGGGC
TCGGACGACTTCTTCTATGTAGGAGGAAGCCCAAGTACCGCTGACTTGCCTGGCTCCCCTGTCAGCAACAACTTCATGGGCTGCCTTAAAGAGGTTGTTT
ATAAGAATAATGACATCCGTCTGGAGCTGTCTCGCCTGGCCCGGATTGCGGACACCAAGATGAAAATCTATGGCGAAGTTGTGTTTAAGTGTGAGAATGT
GGCCACACTGGACCCCATCAACTTTGAGACCCCAGAGGCTTACATCAGCTTGCCCAAGTGGAACACTAAACGTATGGGCTCCATCTCCTTTGACTTCCGC
ACCACAGAGCCCAATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCG
TGGAACTCCTCGATGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTA
CCATGTGGACATTCAGCGAGATGGCAGATCAGGTACTATATCAGTGAACAGCAGGCGCACGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTG
GAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCACCGAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCT
GCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGCAGAATGCTGCGGGTGTCAAGTCCTCCTGTTCACGGATGAG
TGCCAAGCAGTGTGACAGCTACCCCTGCAAGAATAATGCTGTGTGCAAGGACGGCTGGAACCGCTTCATCTGCGACTGCACCGGCACCGGATACTGGGGA
AGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGT
CCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGT
CAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAACGAGTGG
CACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTTTGGAGT
TCCACAACATTGAAACGGGAATCATGACTGAGAAACGCTACATCTCCGTTGTCCCCTCCAGCTTTATTGGCCATCTGCAGAGCCTCATGTTTAATGGCCT
TCTCTACATTGACTTGTGCAAAAATGGTGACATTGATTATTGTGAGCTGAAGGCTCGTTTTGGACTGAGGAACATCATCGCTGACCCTGTCACCTTTAAG
ACCAAGAGCAGCTACCTGAGCCTTGCCACTCTTCAGGCTTACACCTCCATGCACCTCTTCTTCCAGTTCAAGACCACCTCACCAGATGGCTTCATTCTCT
TCAATAGTGGTGATGGCAATGACTTCATTGCAGTCGAGCTTGTCAAGGGGTATATACACTACGTTTTTGACCTCGGAAACGGTCCCAATGTGATCAAAGG
CAACAGTGACCGCCCCCTGAATGACAACCAGTGGCACAATGTCGTCATCACTCGGGACAATAGTAACACTCATAGCCTGAAAGTGGACACCAAAGTGGTC
ACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGGCATGTACAGCAACCTCCCAAAGCTCGTGG
CCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATGATGCTCTTCATCGGAGCGGACAGATCGA
GCGTGGCTGTGAAGGACCCAGTACCACCTGCCAGGAAGATTCATGTGCCAACCAGGGGGTCTGCATGCAACAATGGGAGGGCTTCACCTGTGATTGTTCT
ATGACCTCTTATTCTGGAAACCAGTGCAATGATCCTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACA
GGCCCAGCACGCGGTCTGACCGCCTTGCCGTGGGCTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTT
CCTCCAGCTTCACATAGAACAGGGGAAAATTGGAGTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGC
AAATACCATGTGGTACGCTTCACCAGGAACGGCGGCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGTTAA
CCATCTTCAACACTCAGGCGCAAATAGCCATTGGTGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGT
ACTGAACATGGCGGCTGAGAACAACCCCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACC
TCCATGCCACCAGAAATGTCTACTACTGTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAA
CATCAGATGATCTTGTTTCATCTGCTGAATGTTCAAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGCAAACCCCACGGAGCCGGGAATCAG
ACGGGTTCCGGGGGCCTCAGAGGTGATCCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTC
CTGTACGCCATGTACAAGTACAGGAACAGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGC
TCATGAAGGAGAAGCAGCAGAGCTCGAAGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGC
GAGTTTTCACAGTTATTTCTATCCACGCCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCA
CGACTCTGGTGGGGAAAACCGTTTTTTAAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGT
CGCTGGGAGACAGAAGGTTTTGTGCCCTGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAA
CTTCCTTCTCCGGAGGACCTTTTACTAAAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTG
TAACCATGTTTTTTCTGTTTAATTATGTAAAAAACAAAACTACAACAACAAAAAAAGAAAAAAGTTAAAAAAGAAAAAAACACCAAAAAACAAAAACAAA
CAAAAAAAAAAACCCACAACCCTTATCTGGTTCTGACCAGTGTGCGTGTAACTTTATGATCTGAGGGGAAAAATGGCTTTTGGGTTTTTGTTTATTTTTT
TGATAATGACTGGACATCAGAAGAGGAAAAAAACTCAAAACAAAAGCGAGAGAGACTATTGCCATATGAACTCAAAAGCTATCATGGTGTTCACTCTACA
TATCAGGTTATGGTGTCTCTAGAATCTGTTGTTTGTTTCCTATAAGATGCTTTGCTGAACACATAGCAAAATTCATGTGACGGATGATAAATTGATTCGA
AAAGCTGGTCCCCCAGGATCTAATTTCAGAATTTACCACCCAAACCCGGAACAGATGGGTTTAGGGCTGGTGTTATCAGAGCTATTGGCTTTACGTAACA
ATATTGTTCCTGTCCATTCACCCAGCCAAATTGTGTTAAAGAGGAAAGCCCCACAAACTAAAACAGCCTTTCCTAGGGAAGAGGAAGGGGAGGTGGGCTG
GATCTGTGACTGATTGAAATGCATGCAAATAAAAAAGACAATATTAAAGTCTGTTATCAAACCAGACAGTAGGGGAGTTCAACTCGTGATGGAACCACAA
AAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAGTGGTTTAATTTTGTA
GCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAGCTGCTGTGACACAC
ACACAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCT
GTTAAAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTT
TTGTCACAGTTAACTGTGTCAAAGAGAATTAAAAAAAAAAACTTCAGATTTTGTTTACATATTTTACTACATTTTTGCTGGTATAATTCCTTAGCCACCT
ATGTACATACTGCTTTAAGAAATGTTTTTTTCCTGTTTATTTCTGTTTGGTTTATATTCTGGTTGTCTTTTTCTTTTTGTAAAGAGGAAACAATGTACAG
AAAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTC
ATATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTT
GAAAAAATATCTTAACGACATGGGGCAAAAAGTGCAATCTAAATGGTAGCCTTTACTAATGTGTGTGGAAAGAGGTGTTCCTCATTATCTAATATTTCAA
TGTGTTAAGAGTTTAATTTTTTTGTTATCATTAAAAAAGACAGGATTATAAAGAGATATCAAAGCACGATTTTAGATAACCTAAACGGCCCAGCCTATAC
GAAGTTGATTATATCTCGATGTCTGTAAAAGATTGCTGTTCTTGGAGTCTTGAGGTCTTGTGAATTGATTTCCTGCTTTCTTTCATTTTTTTCAATTTAA
GTAATAATACATTTGTTATATTCCTTTCAGTGTAAGTTTCTATTTGGACAATTTTATGGGAACATGTGCATTCTCTATGTGAGCTTCTATCATATTCCTG
TTTTATTAGCAGAACCTAAAGGAATTTATTTAATGATGTTGTGACATTACTGCTTTTTCTTTTTTCTTTTCTTAGTTCATATTTGCATTTTCGTTCAAGG
ATATGCTTAGCAATAAAATGTTCTTCCC


Protein Sequence     (SEQ ID NO:325):
MLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDIRLELSRLARIADTKMKIYGEVVFKCENVATLDPINFETPEAYISLPKWNTKRMGSISF
DFRTTEPNGLILFTHGKPQERKDARSQKNTKVDFFAVELLDGNLYLLLDMGSGTIKVKATQKKANDGEWYHVDIQRDGRSGTISVNSRRTPFTASGESEI
LDLEGDMYLGGLPENRAGLILPTELWTAMLNYGYVGCIRDLFIDGRSKNIRQLAEMQNAAGVKSSCSRMSAKQCDSYPCKNNAVCKDGWNRFICDCTGTG
YWGRTCEREASILSYDGSMYMKIIMPMVMHTEAEDVSFRFMSQRAYGLLVATTSRDSADTLRLELDGGRVKLMVNLDCIRINCNSSKGPETLYAGQKLND
NEWHTVRVVRRGKSLKLTVDDDVAEGTMVGDHTRLEFHNIETGIMTEKRYISVVPSSFIGHLQSLMFNGLLYIDLCKNGDIDYCELKARFGLRNIIADPV
TFKTKSSYLSLATLQAYTSMHLFFQFKTTSPDGFILFNSGDGNDFIAVELVKGYIHYVFDLGNGPNVIKGNSDRPLNDNQWHNVVITRDNSNTHSLKVDT
KVVTQVINGAKNLDLKGDLYMAGLAQGMYSNLPKLVASRDGFQGCLASVDLNGRLPDLINDALHRSGQIERGCEGPSTTCQEDSCANQGVCMQQWEGFTC
DCSMTSYSGNQCNDPGATYIFGKSGGLILYTWPANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPV
NDGKYHVVRFTRNGGNATLQVDNWPVNEHYPTGRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTT
QTTSMPPEMSTTVMETTTTMATTTTRKNRSTASIQPTSDDLVSSAECSSDDEDFVECEPSTANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCI
LILLYAMYKYRNRDEGSYQVDETRNYISNSAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1359):
TGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGC
Y
GACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCT
Celera SNP ID:                hDV70874226
SNP Position Transcript:      1565
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 358,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1360):
ATAGCCTGAAAGTGGACACCAAAGTGGTCACTCAGGTTATCAATGGTGCCAAAAATCTGGATTTGAAAGGTGATCTCTATATGGCTGGTCTGGCCCAAGG
S
ATGTACAGCAACCTCCCAAAGCTCGTGGCCTCTCGAGATGGCTTTCAGGGCTGTCTAGCATCAGTGGACTTGAATGGACGCCTGCCAGACCTCATCAATG
Celera SNP ID:                hCV30252379
SNP Position Transcript:      2372
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 627,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1361):
ACTGGGGAAGAACCTGCGAAAGGGAGGCATCCATCCTGAGCTATGATGGTAGCATGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGA
R
GATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTACGACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGG
Celera SNP ID:                hCV25935182
SNP Position Transcript:      1493
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,3|G,33)  total(A,3|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 334,(E,GAG) (E,GAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 334,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1362):
TGTACATGAAGATCATCATGCCCATGGTCATGCATACTGAGGCAGAGGATGTGTCCTTCCGCTTCATGTCCCAGCGAGCTTATGGGCTGCTGGTGGCTAC
R
ACCTCCAGGGACTCTGCCGACACCCTGCGTCTGGAGCTGGATGGGGGGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCA
Celera SNP ID:                hCV16183690
SNP Position Transcript:      1547
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,4) ; no_pop(G,-|A,-) ; no_pop(G,232|A,
8)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 352,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1363):
GGCGTGTCAAGCTCATGGTTAACTTAGACTGTATCAGGATAAACTGTAACTCCAGCAAAGGACCAGAGACCTTGTATGCAGGGCAGAAGCTCAATGACAA
Y
GAGTGGCACACCGTTCGGGTGGTGCGGAGAGGAAAAAGCCTTAAGTTAACCGTGGATGATGATGTGGCTGAGGGTACAATGGTGGGAGACCATACCCGTT
Celera SNP ID:                hCV25940509
SNP Position Transcript:      1694
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,33|T,5)  total(C,73|T,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 401,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1364):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      3227
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 912,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1365):
CGCCATTCACCGCCAGTGGGGAGAGCGAGATCCTGGACCTGGAAGGAGACATGTACCTGGGAGGGCTGCCGGAGAACCGTGCTGGCCTTATTCTCCCCAC
Y
GAGCTGTGGACTGCCATGCTCAACTATGGCTACGTGGGCTGCATCCGCGACCTATTCATTGATGGGCGCAGCAAGAACATTCGACAGCTGGCAGAGATGC
Celera SNP ID:                hCV16183691
SNP Position Transcript:      1160
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2914|T,226) ; no_pop(C,-|T,-) ; no_pop(C,792|T,152)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:325, 223,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1366):
GGCTTGAGGAATGTGGTGGTCCCTCTCTTCGTTGTTTCTGCCCCCTGAGGTTGTGCTTTCTCAGGGATATGCACTCTGCACTTCCATTCCTGCAGTGAAA
Y
TAACTCGAGCTTGGCAGCTCGAGAGGAGAATGTGGCCACTTTCCGAGGCTCAGAGTATCTGTGCTACGACCTGTCTCAGAACCCGATCCAGAGCAGCAGT
Celera SNP ID:                hDV70873666
SNP Position Transcript:      112
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:325, None



Context              (SEQ ID NO:1367):
AATGGCCTGATCCTCTTCACTCATGGAAAGCCCCAAGAGAGGAAGGATGCTCGGAGCCAGAAGAATACAAAAGTAGACTTCTTTGCCGTGGAACTCCTCG
K
TGGCAACCTGTACTTGCTGCTTGACATGGGCTCTGGCACCATCAAAGTGAAAGCCACTCAGAAGAAAGCCAATGATGGGGAATGGTACCATGTGGACATT
Celera SNP ID:                hCV25939532
SNP Position Transcript:      913
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:325, 141,(A,GCT) (V,GTT)



Context              (SEQ ID NO:1368):
GTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAG
W
GGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAG
Celera SNP ID:                hCV31754640
SNP Position Transcript:      4886
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:325, None



Context              (SEQ ID NO:1369):
CAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTT
A
AAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGT
Celera SNP ID:                hCV26928391
SNP Position Transcript:      5104
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:325, None



Context              (SEQ ID NO:1370):
AAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTA
A
AGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTC
Celera SNP ID:                hCV26928392
SNP Position Transcript:      5105
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:325, None



Context              (SEQ ID NO:1371):
ATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTT
R
AAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTA
Celera SNP ID:                hCV26928393
SNP Position Transcript:      5112
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:325, None



Context              (SEQ ID NO:1372):
AAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCA
K
ATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGA
Celera SNP ID:                hCV31754644
SNP Position Transcript:      5502
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:325, None



Gene Number:                  26
Celera Gene:                  hCG1811459 - 208000027225738
Celera Transcript:            hCT2328998 - 208000027225692
Public Transcript Accession:  NM_138970
Celera Protein:               hCP1867403 - 208000027225761
Public Protein Accession:     NP_620426
Gene Symbol:                  NRXN3
Protein Name:                  neurexin 3
Celera Genomic Axis:          GA_x5YUV32W0QP(25423621..27129352)
Chromosome:                   14
OMIM NUMBER:                  600567
OMIM Information:


Transcript Sequence  (SEQ ID NO:65):
ATATGACTTGCCCATTTGTGAATTTGGCTCCCCAACTCCTCGCTTCACTTCACCTGTGCCTCCCTGGTCCGCGCACTTCGCAGGCGCCCGCCCGCCTCTC
GGCCACCTCTGCAGCCTGCCAGGCACCTCCTCTTGCGCTCTCGCTGATTTCGCCCACCCACCTCCCTCCACCCCGTGCCACGTTGGTTTGGGTGGCTGCT
CCGCACCGGGTTCCTCCTCCTCTCCTCTTTCCCTCCAGTCCTTCTTATTCTCTTCCTCTGGCTGCGGTGGCTGCTGCTGCTGCTGGTTTTCATCCAGTTG
GGAAACCCAGGAAGCCGGCGGCTGCTCCGTGGCGCTAGTCCAGCACGCCCAGGGTTAAAAGCCTCGCGCCCTTCCGCGGAGACTCCCAGGAACACCCGAA
GAACTCTTCCACCTGCAGCCCCCTTTTGCCTGGCAGTTCTGCATTGCATCTCATGGAAGTGGAAACAGGAAAATAAAAATGTTCAAACTCCTTGGATGTT
GGGATAAACTCACCTGAACCCACTTGGGTTCGGGCTGCCTCCTTCTCTTCCTTCATTGCCACCTTTCCTCTGTGTGGCTCCCGGGAGTGTGCGGTTAAGT
CATCAGACTCGAAGTGCCTAGAGATCCGGAGGAAGCCGCGCCGGTCTTCCCCTGACATGCGTGGCATGCCGGGGCTCCGTAGGAGGTTTGCTATACCTGG
GAGGACCCTGGCATTCTAAATTTCAGCTCCGGGAAAGAGAAGGGGCTTTTTGCCTTTTATCTTTTTTTTTTCTTTCTTTAAGTAGTAATTTTTTAACTGA
TTCATTGTTTGGAAAGCGCATATTGCTTCCCTCTTCCCCGAATTCTGGCAACTCTTCCTCCTGCTATGATGGGCCCTTGGGCATCATGAACTTCATTACT
CCTCACTGGCTGGAATTCAAACTGCCCATCTGTAGTGGTCCCGTGCGTTGACCATGCACCTGAGAATCCACGCGAGACGGAGCCCTCCTCGCCGGCCGGC
CTGGACGCTTGGGATCTGGTTCCTGTTCTGGGGATGTATCGTCAGCTCTGTATGGAGTTCTTCTAATGTAGCTTCCTCCTCCTCCACCTCTTCCTCGCCG
GGGTCTCACTCTCAGCACGAGCACCATTTCCATGGCAGCAAGCATCACTCAGTGCCTATTTCTATCTATCGTTCCCCTGTTTCCCTTCGAGGAGGACACG
CTGGCGCTACGTACATCTTTGGGAAAAGTGGTGGGCTTATCCTCTACACCTGGCCAGCCAATGACAGGCCCAGCACGCGGTCTGACCGCCTTGCCGTGGG
CTTCAGCACCACTGTGAAGGATGGCATCTTGGTCCGCATCGACAGTGCTCCAGGACTTGGTGACTTCCTCCAGCTTCACATAGAACAGGGGAAAATTGGA
GTTGTCTTCAACATTGGCACAGTTGACATCTCCATCAAAGAGGAGAGAACCCCTGTAAATGACGGCAAATACCATGTGGTACGCTTCACCAGGAACGGCG
GCAACGCCACCCTGCAGGTGGACAACTGGCCAGTGAATGAACATTATCCTACAGGCCGGCAGTTAACCATCTTCAACACTCAGGCGCAAATAGCCATTGG
TGGAAAGGACAAAGGACGCCTCTTCCAAGGCCAACTCTCTGGGCTCTATTATGATGGTTTGAAAGTACTGAACATGGCGGCTGAGAACAACCCCAATATT
AAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTACTGTCATGG
AAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTGAATGTTC
AAGTGATGATGAAGACTTTGTTGAATGTGAGCCGAGTACAGGTAGGTCAGCAAACCCCACGGAGCCGGGAATCAGACGGGTTCCGGGGGCCTCAGAGGTG
ATCCGGGAGTCGAGCAGCACAACAGGGATGGTCGTCGGCATTGTGGCTGCTGCCGCCCTCTGCATCTTGATCCTCCTGTACGCCATGTACAAGTACAGGA
ACAGGGACGAGGGGTCCTATCAAGTGGACGAGACGCGGAACTACATCAGCAACTCCGCCCAGAGCAACGGCACGCTCATGAAGGAGAAGCAGCAGAGCTC
GAAGAGCGGCCACAAGAAACAGAAAAACAAGGACAGGGAGTATTACGTGTAAACATGCGAACACTGCTCACACGCGAGTTTTCACAGTTATTTCTATCCA
CGCCTATGAATCTTTGGACGGTGAGATCTCACAGATGTCAGAACTGCTGGAACTATGAAATGGGGTATATAACCACGACTCTGGTGGGGAAAACCGTTTT
TTAAAGGACACACACACACACAGCGATGCATCTCTCTCTAAAGCTCAGCCACGGCTGCGGCAAGGTCCCAGCGGTCGCTGGGAGACAGAAGGTTTTGTGC
CCTGCTGTATCATAAAGCACACACTTAGCGCTCTGGAGCCGGACGGTGGCTCCACCACTTCCGCAGGCCTGGAAACTTCCTTCTCCGGAGGACCTTTTAC
TAAAAGGTAGAAGACTTCATGGCTTACTTGTTCCATAACTCCAAGTGAGTCTGTAATGTTTGTGAAGCTTGACTGTAACCATGTTTTTTCTGTTTAATTA
TGTAAAAAACAAAACTACAACAACAAAAAAAGAAAAAAGTTAAAAAAGAAAAAAACACCAAAAAACAAAAACAAACAAAAAAAAAAACCCACAACCCTTA
TCTGGTTCTGACCAGTGTGCGTGTAACTTTATGATCTGAGGGGAAAAATGGCTTTTGGGTTTTTGTTTATTTTTTTGATAATGACTGGACATCAGAAGAG
GAAAAAAACTCAAAACAAAAGCGAGAGAGACTATTGCCATATGAACTCAAAAGCTATCATGGTGTTCACTCTACATATCAGGTTATGGTGTCTCTAGAAT
CTGTTGTTTGTTTCCTATAAGATGCTTTGCTGAACACATAGCAAAATTCATGTGACGGATGATAAATTGATTCGAAAAGCTGGTCCCCCAGGATCTAATT
TCAGAATTTACCACCCAAACCCGGAACAGATGGGTTTAGGGCTGGTGTTATCAGAGCTATTGGCTTTACGTAACAATATTGTTCCTGTCCATTCACCCAG
CCAAATTGTGTTAAAGAGGAAAGCCCCACAAACTAAAACAGCCTTTCCTAGGGAAGAGGAAGGGGAGGTGGGCTGGATCTGTGACTGATTGAAATGCATG
CAAATAAAAAAGACAATATTAAAGTCTGTTATCAAACCAGACAGTAGGGGAGTTCAACTCGTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCA
TGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAGTGGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGT
CCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAGCTGCTGTGACACACACACAAAAGGAATTTAATAGTATAA
TATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTTAAAATGGAATGAGA
ATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTAACTGTGTCAAAGA
GAATTAAAAAAAAAAACTTCAGATTTTGTTTACATATTTTACTACATTTTTGCTGGTATAATTCCTTAGCCACCTATGTACATACTGCTTTAAGAAATGT
TTTTTTCCTGTTTATTTCTGTTTGGTTTATATTCTGGTTGTCTTTTTCTTTTTGTAAAGAGGAAACAATGTACAGAAAAACAATAAACTGGTTGTATGGC
CATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCATATATACAATTTCTTTTGTACAGA
TGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGAAAAAATATCTTAACGACATGGGG
CAAAAAGTGCAATCTAAATGGTAGCCTTTACTAATGTGTGTGGAAAGAGGTGTTCCTCATTATCTAATATTTCAATGTGTTAAGAGTTTAATTTTTTTGT
TATCATTAAAAAAGACAGGATTATAAAGAGATATCAAAGCACGATTTTAGATAACCTAAACGGCCCAGCCTATACGAAGTTGATTATATCTCGATGTCTG
TAAAAGATTGCTGTTCTTGGAGTCTTGAGGTCTTGTGAATTGATTTCCTGCTTTCTTTCATTTTTTTCAATTTAAGTAATAATACATTTGTTATATTCCT
TTCAGTGTAAGTTTCTATTTGGACAATTTTATGGGAACATGTGCATTCTCTATGTGAGCTTCTATCATATTCCTGTTTTATTAGCAGAACCTAAAGGAAT
TTATTTAATGATGTTGTGACATTACTGCTTTTTCTTTTTTCTTTTCTTAGTTCATATTTGCATTTTCGTTCAAGGATATGCTTAGCAATAAAATGTTCTT
CCC


Protein Sequence     (SEQ ID NO:326):
MHLRIHARRSPPRRPAWTLGIWFLFWGCIVSSVWSSSNVASSSSTSSSPGSHSQHEHHFHGSKHHSVPISIYRSPVSLRGGHAGATYIFGKSGGLILYTW
PANDRPSTRSDRLAVGFSTTVKDGILVRIDSAPGLGDFLQLHIEQGKIGVVFNIGTVDISIKEERTPVNDGKYHVVRFTRNGGNATLQVDNWPVNEHYPT
GRQLTIFNTQAQIAIGGKDKGRLFQGQLSGLYYDGLKVLNMAAENNPNIKINGSVRLVGEVPSILGTTQTTSMPPEMSTTVMETTTTMATTTTRKNRSTA
SIQPTSDDLVSSAECSSDDEDFVECEPSTGRSANPTEPGIRRVPGASEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYQVDETRNYISN
SAQSNGTLMKEKQQSSKSGHKKQKNKDREYYV*



SNP Information


Context              (SEQ ID NO:1373):
CCAATATTAAAATCAATGGAAGTGTTCGGCTGGTTGGAGAAGTCCCATCAATTTTGGGAACAACACAGACGACCTCCATGCCACCAGAAATGTCTACTAC
Y
GTCATGGAAACCACTACTACAATGGCGACTACCACAACCCGTAAGAATCGCTCTACAGCCAGCATTCAGCCAACATCAGATGATCTTGTTTCATCTGCTG
Celera SNP ID:                hCV25935869
SNP Position Transcript:      1793
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,37)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:326, 280,(T,ACT) (T,ACC)



Context              (SEQ ID NO:1374):
GTGATGGAACCACAAAAGGTCACACAAGCCAACCATGTCATGCCAGAGTACAAAACACATAGTTCTTTCCCCGCCCCGAATGTGACAATGGTTTTCATAG
W
GGTTTAATTTTGTAGCCTGACATTTATGGATAACTCTGTCCTTCCATTTGCTCACTTCTCTCTTCACCCATCTTTTTTAAAAACAAATAAATGAATAAAG
Celera SNP ID:                hCV31754640
SNP Position Transcript:      3461
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:326, None



Context              (SEQ ID NO:1375):
CAAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTT
A
AAGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGT
Celera SNP ID:                hCV26928391
SNP Position Transcript:      3679
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:326, None



Context              (SEQ ID NO:1376):
AAAAGGAATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTA
A
AGTCTTAAAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTC
Celera SNP ID:                hCV26928392
SNP Position Transcript:      3680
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:326, None



Context              (SEQ ID NO:1377):
ATTTAATAGTATAATATATATATAAATAAATATATATACAGATATATTTATCATGGTATGTTTGATGGGATGACTGACACAGGAAATCTGTTAAAGTCTT
R
AAATGGAATGAGAATGTTGTTTTAAAAGAAAATAGCAAAACAACAAAAAAGCAAACCTTAAAATGTGAAGAAAGTGTGAATTTTAGTTTTGTCACAGTTA
Celera SNP ID:                hCV26928393
SNP Position Transcript:      3687
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:326, None



Context              (SEQ ID NO:1378):
AAAACAATAAACTGGTTGTATGGCCATAGCTATCCGAAAAGCAAGAGACAAAGCAAGACAAATATTCACACAAAAATGAAGTGTGTCCTCTGGAGGGTCA
K
ATATACAATTTCTTTTGTACAGATGAAAATCAATCAGCTGCTTAGATTTAGAAATCTACTCTTGCTGGTCTTTGTAAGTTGCATGAATATTTGACTTTGA
Celera SNP ID:                hCV31754644
SNP Position Transcript:      4077
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:326, None



Gene Number:                  27
Celera Gene:                  hCG1811711 - 84000315028795
Celera Transcript:            hCT1953994 - 84000315028796
Public Transcript Accession:  NM_024296
Celera Protein:               hCP1766389 - 197000064953562
Public Protein Accession:     NP_077272
Gene Symbol:                  MGC1203
Protein Name:                  hypothetical protein MGC1203
Celera Genomic Axis:          GA_x5YUV32W802(50938043..50955026)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:66):
GTAAGGAACTGTAGCTTCTCTCTGAAACTGCCGGGAAAGGGAAAATCTTTTTAAAATAGACATCACACAACCAACAGGGTCCCCTAGGTTCAGGCGGGGA
GGTGAGGTCGAGTGAGAGGAACTGCTTAGCATACGCGGGGATGCTCCTCCCATCTCACCCCACCGCGCTAAGGAGAAGGTCACTTTCTCTTTAAATGCAA
ATGAACTCCCTCCAGCTTAGCTTTCACCCGGTGGTGTTCCCGGGAGGAGAGGGCGGAGGGCGGAGGGAACTTGCACCGAAGCATCACTCGAGACCCCAAA
CCTCCAGGCCTGAGGCCCAGCCAGCGCCCAATGGATGACAAAAAGAAGAAACGGAGTCCCAAGCCCTGCCTGGCCCAGCCAGCCCAGGCCCCAGGCACAC
TACGGAGGGTCCCTGTGCCTACCAGCCACAGCGGCTCCTTGGCCCTAGGACTTCCTCATCTGCCATCCCCCAAGCAGCGGGCCAAGTTCAAGAGAGTAGG
CAAAGAGAAGTGCCGCCCAGTCCTGGCTGGAGGTGGAAGCGGCTCTGCAGGCACGCCCCTGCAGCACTCCTTCCTGACCGAGGTGACTGATGTCTATGAG
ATGGAGGGGGGACTCCTGAACCTGCTCAATGATTTCCACTCTGGCCGGCTGCAGGCCTTCGGGAAGGAATGCTCCTTTGAGCAGCTGGAGCACGTTCGGG
AGATGCAGGAGAAGCTAGCCCGGCTGCACTTCAGCCTGGATGTGTGTGGGGAGGAGGAGGACGATGAAGAGGAAGAGGATGGGGTCACTGAGGGGCTGCC
AGAGGAGCAGAAGAAGACAATGGCTGACCGTAACCTGGACCAGCTGCTTAGCAATCTGGAAGACCTCAGTAATTCTATGTATCCTTTCCAAGGAACCCGT
CTATGTGTGTGTGTTCCTGAGAGGTCAGTTTCCTCCTCTCCAGCCCTCCAGGAGTATTCACACACAACCAACTTCCCCACCTCTTGCAGTCCTGTCAGAT
TTAGCCACAGACTGCCCAAACCCAGGTACAGGAATTTAGAATTTCCCCAAAATTAGAAGAAAAGTGGTTGTAGGGGATGTTTTACTACTGATCAAAATCT
TTGTGAGTACTTTAGCTGACATCAATCATAGCAAAGCTTGTCCGATGTCCTCCTATCCTTTCAGCATTGAACAATTATTTTTACTAATTTACACTACCAC
CTCACCTGGTCCTCAGTCAGAAACAGCGCGAGTGCGCGCGCACACACCCCAGTGTGTCTGACCTGCACGATCTGGATGAAGAGAGAGGGGGTGAGAGAGG
GCAGGCGGGGACTGCAACCTCAGTCCACAGACGGCCCGAGACCCTCGTCCCCGGCCCTTTGCACAGGTGAGGGAACTAAACCTGTGCAAGATGGGAGACC
GGGGTGGGAGGAAGGACTGGTCCAAAGCGCCACGATCCTTGACGGGCACAGCCAGAAGCTGCACCTGGCCGAGAACGCCGAGCCTGAGGAGCAGTCCGCT
GCGTAGGCGTCCCACGCAGGCCCACACTGCCCCTCTCATTCTCTTCAAACTGTGACTTTTTACAGACTCGGGCGGGTGTTCTGCGGCCCCCCAGGTGCTA
TGGGGGAGGGGGGCGTTGAATGGAATTAAACCAGAAAGAAAGC


Protein Sequence     (SEQ ID NO:327):
MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHLPSPKQRAKFKRVGKEKCRPVLAGGGSGSAGTPLQHSFLTEVTDVYEMEGGLLNLLN
DFHSGRLQAFGKECSFEQLEHVREMQEKLARLHFSLDVCGEEEDDEEEEDGVTEGLPEEQKKTMADRNLDQLLSNLEDLSNSMYPFQGTRLCVCVPERSV
SSSPALQEYSHTTNFPTSCSPVRFSHRLPKPRYRNLEFPQN*



SNP Information


Context              (SEQ ID NO:1379):
TCCAGGCCTGAGGCCCAGCCAGCGCCCAATGGATGACAAAAAGAAGAAACGGAGTCCCAAGCCCTGCCTGGCCCAGCCAGCCCAGGCCCCAGGCACACTA
Y
GGAGGGTCCCTGTGCCTACCAGCCACAGCGGCTCCTTGGCCCTAGGACTTCCTCATCTGCCATCCCCCAAGCAGCGGGCCAAGTTCAAGAGAGTAGGCAA
Celera SNP ID:                hCV8853882
SNP Position Transcript:      403
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,34|T,4)  total(C,74|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:327, 25,(R,CGG) (W,TGG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,546|T,6) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:327, 25,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1380):
ACGTTCGGGAGATGCAGGAGAAGCTAGCCCGGCTGCACTTCAGCCTGGATGTGTGTGGGGAGGAGGAGGACGATGAAGAGGAAGAGGATGGGGTCACTGA
R
GGGCTGCCAGAGGAGCAGAAGAAGACAATGGCTGACCGTAACCTGGACCAGCTGCTTAGCAATCTGGAAGACCTCAGTAATTCTATGTATCCTTTCCAAG
Celera SNP ID:                hCV29591436
SNP Position Transcript:      792
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:327, 154,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1381):
CGTTCGGGAGATGCAGGAGAAGCTAGCCCGGCTGCACTTCAGCCTGGATGTGTGTGGGGAGGAGGAGGACGATGAAGAGGAAGAGGATGGGGTCACTGAG
R
GGCTGCCAGAGGAGCAGAAGAAGACAATGGCTGACCGTAACCTGGACCAGCTGCTTAGCAATCTGGAAGACCTCAGTAATTCTATGTATCCTTTCCAAGG
Celera SNP ID:                hCV25974005
SNP Position Transcript:      793
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|G,37)  african american(A,0|G,38)  total(A,3|G,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:327, 155,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1382):
CTACCACCTCACCTGGTCCTCAGTCAGAAACAGCGCGAGTGCGCGCGCACACACCCCAGTGTGTCTGACCTGCACGATCTGGATGAAGAGAGAGGGGGTG
M
GAGAGGGCAGGCGGGGACTGCAACCTCAGTCCACAGACGGCCCGAGACCCTCGTCCCCGGCCCTTTGCACAGGTGAGGGAACTAAACCTGTGCAAGATGG
Celera SNP ID:                hCV30024683
SNP Position Transcript:      1294
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:327, None



Context              (SEQ ID NO:1383):
GACGGGCACAGCCAGAAGCTGCACCTGGCCGAGAACGCCGAGCCTGAGGAGCAGTCCGCTGCGTAGGCGTCCCACGCAGGCCCACACTGCCCCTCTCATT
Y
TCTTCAAACTGTGACTTTTTACAGACTCGGGCGGGTGTTCTGCGGCCCCCCAGGTGCTATGGGGGAGGGGGGCGTTGAATGGAATTAAACCAGAAAGAAA
Celera SNP ID:                hCV8853893
SNP Position Transcript:      1541
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:327, None



Gene Number:                  28
Celera Gene:                  hCG1812144 - 79000075521122
Celera Transcript:            hCT1956115 - 79000075521123
Public Transcript Accession:  NM_002742
Celera Protein:               hCP1764594 - 197000069452721
Public Protein Accession:     NP_002733
Gene Symbol:                  PRKCM
Protein Name:                  protein kinase C, mu
Celera Genomic Axis:          GA_x5YUV32VVQK(22839163..23202345)
Chromosome:                   14
OMIM NUMBER:                  605435
OMIM Information:


Transcript Sequence  (SEQ ID NO:67):
CCTCCTCCCCATCTCCTCCCCTTAGTCCCCTCCCCTCCCGATCCTCATCCCCTTGCCCTCCCCCAGCCCAGGGACTTTTCCGGAAAGTTTTTATTTTCCG
TCTGGGCTCTCGGAGAAAGAAGCTCCTGGCTCAGCGGCTGCAAAACTTTCCTGCTGCCGCGCCGCCAGCCCCCGCCCTCCGCTGCCCGGCCCTGCGCCCC
GCCGAGCGATGAGCGCCCCTCCGGTCCTGCGGCCGCCCAGTCCGCTGCTGCCCGTGGCGGCGGCAGCTGCCGCAGCGGCCGCCGCACTGGTCCCAGGGTC
CGGGCCCGGGCCCGCGCCGTTCTTGGCTCCTGTCGCGGCCCCGGTCGGGGGCATCTCGTTCCATCTGCAGATCGGCCTGAGCCGTGAGCCGGTGCTGCTG
CTGCAGGACTCGTCCGGGGACTACAGCCTGGCGCACGTCCGCGAGATGGCTTGCTCCATTGTCGACCAGAAGTTCCCTGAATGTGGTTTCTACGGAATGT
ATGATAAGATCCTGCTTTTTCGCCATGACCCTACCTCTGAAAACATCCTTCAGCTGGTGAAAGCGGCCAGTGATATCCAGGAAGGCGATCTTATTGAAGT
GGTCTTGTCAGCTTCCGCCACCTTTGAAGACTTTCAGATTCGTCCCCACGCTCTCTTTGTTCATTCATACAGAGCTCCAGCTTTCTGTGATCACTGTGGA
GAAATGCTGTGGGGGCTGGTACGTCAAGGTCTTAAATGTGAAGGGTGTGGTCTGAATTACCATAAGAGATGTGCATTTAAAATACCCAACAATTGCAGCG
GTGTGAGGCGGAGAAGGCTCTCAAACGTTTCCCTCACTGGGGTCAGCACCATCCGCACATCATCTGCTGAACTCTCTACAAGTGCCCCTGATGAGCCCCT
TCTGCAAAAATCACCATCAGAGTCGTTTATTGGTCGAGAGAAGAGGTCAAATTCTCAATCATACATTGGACGACCAATTCACCTTGACAAGATTTTGATG
TCTAAAGTTAAAGTGCCGCACACATTTGTCATCCACTCCTACACCCGGCCCACAGTGTGCCAGTACTGCAAGAAGCTTCTGAAGGGGCTTTTCAGGCAGG
GCTTGCAGTGCAAAGATTGCAGATTCAACTGCCATAAACGTTGTGCACCGAAAGTACCAAACAACTGCCTTGGCGAAGTGACCATTAATGGAGATTTGCT
TAGCCCTGGGGCAGAGTCTGATGTGGTCATGGAAGAAGGGAGTGATGACAATGATAGTGAAAGGAACAGTGGGCTCATGGATGATATGGAAGAAGCAATG
GTCCAAGATGCAGAGATGGCAATGGCAGAGTGCCAGAACGACAGTGGCGAGATGCAAGATCCAGACCCAGACCACGAGGACGCCAACAGAACCATCAGTC
CATCAACAAGCAACAATATCCCACTCATGAGGGTAGTGCAGTCTGTCAAACACACGAAGAGGAAAAGCAGCACAGTCATGAAAGAAGGATGGATGGTCCA
CTACACCAGCAAGGACACGCTGCGGAAACGGCACTATTGGAGATTGGATAGCAAATGTATTACCCTCTTTCAGAATGACACAGGAAGCAGGTACTACAAG
GAAATTCCTTTATCTGAAATTTTGTCTCTGGAACCAGTAAAAACTTCAGCTTTAATTCCTAATGGGGCCAATCCTCATTGTTTCGAAATCACTACGGCAA
ATGTAGTGTATTATGTGGGAGAAAATGTGGTCAATCCTTCCAGCCCATCACCAAATAACAGTGTTCTCACCAGTGGCGTTGGTGCAGATGTGGCCAGGAT
GTGGGAGATAGCCATCCAGCATGCCCTTATGCCCGTCATTCCCAAGGGCTCCTCCGTGGGTACAGGAACCAACTTGCACAGAGATATCTCTGTGAGTATT
TCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTT
ATGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGT
TGCAATTCTACAGAACCTTCATCACCCTGGTGTTGTAAATTTGGAGTGTATGTTTGAGACGCCTGAAAGAGTGTTTGTTGTTATGGAAAAACTCCATGGA
GACATGCTGGAAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAGCACATAACGAAGTTTTTAATTACTCAGATACTCGTGGCTTTGCGGCACCTTC
ATTTTAAAAATATCGTTCACTGTGACCTCAAACCAGAAAATGTGTTGCTAGCCTCAGCTGATCCTTTTCCTCAGGTGAAACTTTGTGATTTTGGTTTTGC
CCGGATCATTGGAGAGAAGTCTTTCCGGAGGTCAGTGGTGGGTACCCCCGCTTACCTGGCTCCTGAGGTCCTAAGGAACAAGGGCTACAATCGCTCTCTA
GACATGTGGTCTGTTGGGGTCATCATCTATGTAAGCCTAAGCGGCACATTCCCATTTAATGAAGATGAAGACATACACGACCAAATTCAGAATGCAGCTT
TCATGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGAGAAAGCGCTACAGTGTGGA
TAAGACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAGT
GATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAGGGGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTG
AAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCTCTGAGTTCCATCTCCTATAATCTGTCAAAACACTGTGGAACTAATAAATACATACGG
TCAGGTTTAACATTTGCCTTGCAGAACTGCCATTATTTTCTGTCAGATGAGAACAAAGCTGTTAAACTGTTAGCACTGTTGATGTATCTGAGTTGCCAAG
ACAAATCAACAGAAGCATTTGTATTTTGTGTGACCAACTGTGTTGTATTAACAAAAGTTCCCTGAAACACGAAACTTGTTATTGTGAATGATTCATGTTA
TATTTAATGCATTAAACCTGTCTCCACTGTGCCTTTGCAAATCAGTGTTTTTCTTACTGGAGCTTCATTTTGGTAAGAGACAGAATGTATCTGTGAAGTA
GTTCTGTTTGGTGTGTCCCATTGGTGTTGTCATTGTAAACAAACTCTTGAAGAGTCGATTATTTCCAGTGTTCTATGAACAACTCCAAAACCCATGTGGG
AAAAAAATGAATGAGGAGGGTAGGGAATAAAATCCTAAGACACAAATGCATGAACAAGTTTTAATGTATAGTTTTGAATCCTTTGCCTGCCTGGTGTGCC
TCAGTATATTTAAACTCAAGACAATGCACCTAGCTGTGCAAGACCTAGTGCTCTTAAGCCTAAATGCCTTAGAAATGTAAACTGCCATATATAACAGATA
CATTTCCCTCTTTCTTATAATACTCTGTTGTACTATGGAAAATCAGCTGCTCAGCAACCTTTCACCTTTGTGTATTTTTCAATAATAAAAAATATTCTTG
TCAAAA


Protein Sequence     (SEQ ID NO:328):
MSAPPVLRPPSPLLPVAAAAAAAAAALVPGSGPGPAPFLAPVAAPVGGISFHLQIGLSREPVLLLQDSSGDYSLAHVREMACSIVDQKFPECGFYGMYDK
ILLFRHDPTSENILQLVKAASDIQEGDLIEVVLSASATFEDFQIRPHALFVHSYRAPAFCDHCGEMLWGLVRQGLKCEGCGLNYHKRCAFKIPNNCSGVR
RRRLSNVSLTGVSTIRTSSAELSTSAPDEPLLQKSPSESFIGREKRSNSQSYIGRPIHLDKILMSKVKVPHTFVIHSYTRPTVCQYCKKLLKGLFRQGLQ
CKDCRFNCHKRCAPKVPNNCLGEVTINGDLLSPGAESDVVMEEGSDDNDSERNSGLMDDMEEAMVQDAEMAMAECQNDSGEMQDPDPDHEDANRTISPST
SNNIPLMRVVQSVKHTKRKSSTVMKEGWMVHYTSKDTLRKRHYWRLDSKCITLFQNDTGSRYYKEIPLSEILSLEPVKTSALIPNGANPHCFEITTANVV
YYVGENVVNPSSPSPNNSVLTSGVGADVARMWEIAIQHALMPVIPKGSSVGTGTNLHRDISVSISVSNCQIQENVDISTVYQIFPDEVLGSGQFGIVYGG
KHRKTGRDVAIKIIDKLRFPTKQESQLRNEVAILQNLHHPGVVNLECMFETPERVFVVMEKLHGDMLEMILSSEKGRLPEHITKFLITQILVALRHLHFK
NIVHCDLKPENVLLASADPFPQVKLCDFGFARIIGEKSFRRSVVGTPAYLAPEVLRNKGYNRSLDMWSVGVIIYVSLSGTFPFNEDEDIHDQIQNAAFMY
PPNPWKEISHEAIDLINNLLQVKMRKRYSVDKTLSHPWLQDYQTWLDLRELECKIGERYITHESDDLRWEKYAGEQGLQYPTHLINPSASHSDTPETEET
EMKALGERVSIL*



SNP Information


Context              (SEQ ID NO:1384):
CCACAGTGTGCCAGTACTGCAAGAAGCTTCTGAAGGGGCTTTTCAGGCAGGGCTTGCAGTGCAAAGATTGCAGATTCAACTGCCATAAACGTTGTGCACC
R
AAAGTACCAAACAACTGCCTTGGCGAAGTGACCATTAATGGAGATTTGCTTAGCCCTGGGGCAGAGTCTGATGTGGTCATGGAAGAAGGGAGTGATGACA
Celera SNP ID:                hCV16179932
SNP Position Transcript:      1150
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 314,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2884|A,60) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 314,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1385):
CTGTGAGTATTTCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTT
W
GGAATTGTTTATGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTC
Celera SNP ID:                hCV31333664
SNP Position Transcript:      1990
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 594,(F,TTT) (L,TTA)



Context              (SEQ ID NO:1386):
CGTCATTCCCAAGGGCTCCTCCGTGGGTACAGGAACCAACTTGCACAGAGATATCTCTGTGAGTATTTCAGTATCAAATTGCCAGATTCAAGAAAATGTG
K
ACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTTATGGAGGAAAACATCGTAAAACAGGAAGAGATGT
Celera SNP ID:                hCV31333662
SNP Position Transcript:      1934
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 576,(D,GAC) (Y,TAC)



Context              (SEQ ID NO:1387):
CGCTACATCACCCATGAAAGTGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAGGGGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCC
R
CAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCTCTGAGTTCCATCTCCTATAATCTGTCAAAACACTGTG
Celera SNP ID:                hCV25592609
SNP Position Transcript:      2880
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,0|A,36)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 891,(H,CAC) (R,CGC)



Context              (SEQ ID NO:1388):
TCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTT
W
TGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGTT
Celera SNP ID:                hCV31333663
SNP Position Transcript:      2001
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 598,(Y,TAT) (F,TTT)



Context              (SEQ ID NO:1389):
TGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGAGAAAGCGCTACAGTGTGGATAA
R
ACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAGTGATG
Celera SNP ID:                hCV31333689
SNP Position Transcript:      2704
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 832,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1390):
GACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAGTGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAG
S
GGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAG
Celera SNP ID:                hCV8710998
SNP Position Transcript:      2837
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,92) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 877,(G,GGG) (R,CGG)



Context              (SEQ ID NO:1391):
ATATCGTTCACTGTGACCTCAAACCAGAAAATGTGTTGCTAGCCTCAGCTGATCCTTTTCCTCAGGTGAAACTTTGTGATTTTGGTTTTGCCCGGATCAT
Y
GGAGAGAAGTCTTTCCGGAGGTCAGTGGTGGGTACCCCCGCTTACCTGGCTCCTGAGGTCCTAAGGAACAAGGGCTACAATCGCTCTCTAGACATGTGGT
Celera SNP ID:                hCV2821340
SNP Position Transcript:      2410
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,26|C,10)  african american(T,8|C,30)  total(T,34|C,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 734,(I,ATT) (I,ATC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|C,11)  african american(T,7|C,29)  total(T,34|C,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 734,(I,ATT) (I,ATC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,10|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 734,(I,ATT) (I,ATC)



Context              (SEQ ID NO:1392):
CAAATTCAGAATGCAGCTTTCATGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGA
R
AAAGCGCTACAGTGTGGATAAGACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGC
Celera SNP ID:                hCV31333688
SNP Position Transcript:      2682
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:328, 825,(R,AGA) (K,AAA)



Context              (SEQ ID NO:1393):
GATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGTTGCAATTCTACAGAACCTTCATCACCCTGGTGTTGTAAATTTGGAGTGTATGTTTGAGAC
K
CCTGAAAGAGTGTTTGTTGTTATGGAAAAACTCCATGGAGACATGCTGGAAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAGCACATAACGAAGT
Celera SNP ID:                hCV25766411
SNP Position Transcript:      2161
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|G,39)  african american(T,0|G,38)  total(T,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 651,(T,ACG) (T,ACT)



Context              (SEQ ID NO:1394):
AGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCT
M
TGAGTTCCATCTCCTATAATCTGTCAAAACACTGTGGAACTAATAAATACATACGGTCAGGTTTAACATTTGCCTTGCAGAACTGCCATTATTTTCTGTC
Celera SNP ID:                hCV8711007
SNP Position Transcript:      2944
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:328, 912,(L,CTC) (L,CTA)



Context              (SEQ ID NO:1395):
GTGTCCCATTGGTGTTGTCATTGTAAACAAACTCTTGAAGAGTCGATTATTTCCAGTGTTCTATGAACAACTCCAAAACCCATGTGGGAAAAAAATGAAT
R
AGGAGGGTAGGGAATAAAATCCTAAGACACAAATGCATGAACAAGTTTTAATGTATAGTTTTGAATCCTTTGCCTGCCTGGTGTGCCTCAGTATATTTAA
Celera SNP ID:                hCV8711008
SNP Position Transcript:      3413
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,48|A,44) ; no_pop(G,-|A,-) ; no_pop(G,48|A,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:328, None



Gene Number:                  28
Celera Gene:                  hCG1812144 - 79000075521122
Celera Transcript:            hCT2304620 - 79000075521145
Public Transcript Accession:  NM_002742
Celera Protein:               hCP1899459 - 197000069452723
Public Protein Accession:     NP_002733
Gene Symbol:                  PRKCM
Protein Name:                  protein kinase C, mu
Celera Genomic Axis:          GA_x5YUV32VVQK(22839163..23202345)
Chromosome:                   14
OMIM NUMBER:                  605435
OMIM Information:


Transcript Sequence  (SEQ ID NO:68):
CCTCCTCCCCATCTCCTCCCCTTAGTCCCCTCCCCTCCCGATCCTCATCCCCTTGCCCTCCCCCAGCCCAGGGACTTTTCCGGAAAGTTTTTATTTTCCG
TCTGGGCTCTCGGAGAAAGAAGCTCCTGGCTCAGCGGCTGCAAAACTTTCCTGCTGCCGCGCCGCCAGCCCCCGCCCTCCGCTGCCCGGCCCTGCGCCCC
GCCGAGCGATGAGCGCCCCTCCGGTCCTGCGGCCGCCCAGTCCGCTGCTGCCCGTGGCGGCGGCAGCTGCCGCAGCGGCCGCCGCACTGGTCCCAGGGTC
CGGGCCCGGGCCCGCGCCGTTCTTGGCTCCTGTCGCGGCCCCGGTCGGGGGCATCTCGTTCCATCTGCAGATCGGCCTGAGCCGTGAGCCGGTGCTGCTG
CTGCAGGACTCGTCCGGGGACTACAGCCTGGCGCACGTCCGCGAGATGGCTTGCTCCATTGTCGACCAGAAGTTCCCTGAATGTGGTTTCTACGGAATGT
ATGATAAGATCCTGCTTTTTCGCCATGACCCTACCTCTGAAAACATCCTTCAGCTGGTGAAAGCGGCCAGTGATATCCAGGAAGGCGATCTTATTGAAGT
GGTCTTGTCAGCTTCCGCCACCTTTGAAGACTTTCAGATTCGTCCCCACGCTCTCTTTGTTCATTCATACAGAGCTCCAGCTTTCTGTGATCACTGTGGA
GAAATGCTGTGGGGGCTGGTACGTCAAGGTCTTAAATGTGAAGGGTGTGGTCTGAATTACCATAAGAGATGTGCATTTAAAATACCCAACAATTGCAGCG
GTGTGAGGCGGAGAAGGCTCTCAAACGTTTCCCTCACTGGGGTCAGCACCATCCGCACATCATCTGCTGAACTCTCTACAAGTGCCCCTGATGAGCCCCT
TCTGCAAAAATCACCATCAGAGTCGTTTATTGGTCGAGAGAAGAGGTCAAATTCTCAATCATACATTGGACGACCAATTCACCTTGACAAGATTTTGATG
TCTAAAGTTAAAGTGCCGCACACATTTGTCATCCACTCCTACACCCGGCCCACAGTGTGCCAGTACTGCAAGAAGCTTCTGAAGGGGCTTTTCAGGCAGG
GCTTGCAGTGCAAAGATTGCAGATTCAACTGCCATAAACGTTGTGCACCGAAAGTACCAAACAACTGCCTTGGCGAAGTGACCATTAATGGAGATTTGCT
TAGCCCTGGGGCAGAGTCTGATGTGGTCATGGAAGAAGGGAGTGATGACAATGATAGTGAAAGGAACAGTGGGCTCATGGATGATATGGAAGAAGCAATG
GTCCAAGATGCAGAGATGGCAATGGCAGAGTGCCAGAACGACAGTGGCGAGATGCAAGATCCAGACCCAGACCACGAGGACGCCAACAGAACCATCAGTC
CATCAACAAGCAACAATATCCCACTCATGAGGGTAGTGCAGTCTGTCAAACACACGAAGAGGAAAAGCAGCACAGTCATGAAAGAAGGATGGATGGTCCA
CTACACCAGCAAGGACACGCTGCGGAAACGGCACTATTGGAGATTGGATAGCAAATGTATTACCCTCTTTCAGAATGACACAGGAAGCAGGTACTACAAG
GAAATTCCTTTATCTGAAATTTTGTCTCTGGAACCAGTAAAAACTTCAGCTTTAATTCCTAATGGGGCCAATCCTCATTGTTTCGAAATCACTACGGCAA
ATGTAGTGTATTATGTGGGAGAAAATGTGGTCAATCCTTCCAGCCCATCACCAAATAACAGTGTTCTCACCAGTGGCGTTGGTGCAGATGTGGCCAGGAT
GTGGGAGATAGCCATCCAGCATGCCCTTATGCCCGTCATTCCCAAGGGCTCCTCCGTGGGTACAGGAACCAACTTGCACAGAGATATCTCTGTGAGTATT
TCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTT
ATGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGT
TGCAATTCTACAGAACCTTCATCACCCTGGTGTTGTAAATTTGGAGTGTATGTTTGAGACGCCTGAAAGAGTGTTTGTTGTTATGGAAAAACTCCATGGA
GACATGCTGGAAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAGCACATAACGAAGTTTTTAATTACTCAGGTGAAACTTTGTGATTTTGGTTTTG
CCCGGATCATTGGAGAGAAGTCTTTCCGGAGGTCAGTGGTGGGTACCCCCGCTTACCTGGCTCCTGAGGTCCTAAGGAACAAGGGCTACAATCGCTCTCT
AGACATGTGGTCTGTTGGGGTCATCATCTATGTAAGCCTAAGCGGCACATTCCCATTTAATGAAGATGAAGACATACACGACCAAATTCAGAATGCAGCT
TTCATGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGAGAAAGCGCTACAGTGTGG
ATAAGACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAG
TGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAGGGGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACT
GAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCTCTGAGTTCCATCTCCTATAATCTGTCAAAACACTGTGGAACTAATAAATACATACG
GTCAGGTTTAACATTTGCCTTGCAGAACTGCCATTATTTTCTGTCAGATGAGAACAAAGCTGTTAAACTGTTAGCACTGTTGATGTATCTGAGTTGCCAA
GACAAATCAACAGAAGCATTTGTATTTTGTGTGACCAACTGTGTTGTATTAACAAAAGTTCCCTGAAACACGAAACTTGTTATTGTGAATGATTCATGTT
ATATTTAATGCATTAAACCTGTCTCCACTGTGCCTTTGCAAATCAGTGTTTTTCTTACTGGAGCTTCATTTTGGTAAGAGACAGAATGTATCTGTGAAGT
AGTTCTGTTTGGTGTGTCCCATTGGTGTTGTCATTGTAAACAAACTCTTGAAGAGTCGATTATTTCCAGTGTTCTATGAACAACTCCAAAACCCATGTGG
GAAAAAAATGAATGAGGAGGGTAGGGAATAAAATCCTAAGACACAAATGCATGAACAAGTTTTAATGTATAGTTTTGAATCCTTTGCCTGCCTGGTGTGC
CTCAGTATATTTAAACTCAAGACAATGCACCTAGCTGTGCAAGACCTAGTGCTCTTAAGCCTAAATGCCTTAGAAATGTAAACTGCCATATATAACAGAT
ACATTTCCCTCTTTCTTATAATACTCTGTTGTACTATGGAAAATCAGCTGCTCAGCAACCTTTCACCTTTGTGTATTTTTCAATAATAAAAAATATTCTT
GTCAAAA


Protein Sequence     (SEQ ID NO:329):
MSAPPVLRPPSPLLPVAAAAAAAAAALVPGSGPGPAPFLAPVAAPVGGISFHLQIGLSREPVLLLQDSSGDYSLAHVREMACSIVDQKFPECGFYGMYDK
ILLFRHDPTSENILQLVKAASDIQEGDLIEVVLSASATFEDFQIRPHALFVHSYRAPAFCDHCGEMLWGLVRQGLKCEGCGLNYHKRCAFKIPNNCSGVR
RRRLSNVSLTGVSTIRTSSAELSTSAPDEPLLQKSPSESFIGREKRSNSQSYIGRPIHLDKILMSKVKVPHTFVIHSYTRPTVCQYCKKLLKGLFRQGLQ
CKDCRFNCHKRCAPKVPNNCLGEVTINGDLLSPGAESDVVMEEGSDDNDSERNSGLMDDMEEAMVQDAEMAMAECQNDSGEMQDPDPDHEDANRTISPST
SNNIPLMRVVQSVKHTKRKSSTVMKEGWMVHYTSKDTLRKRHYWRLDSKCITLFQNDTGSRYYKEIPLSEILSLEPVKTSALIPNGANPHCFEITTANVV
YYVGENVVNPSSPSPNNSVLTSGVGADVARMWEIAIQHALMPVIPKGSSVGTGTNLHRDISVSISVSNCQIQENVDISTVYQIFPDEVLGSGQFGIVYGG
KHRKTGRDVAIKIIDKLRFPTKQESQLRNEVAILQNLHHPGVVNLECMFETPERVFVVMEKLHGDMLEMILSSEKGRLPEHITKFLITQVKLCDFGFARI
IGEKSFRRSVVGTPAYLAPEVLRNKGYNRSLDMWSVGVIIYVSLSGTFPFNEDEDIHDQIQNAAFMYPPNPWKEISHEAIDLINNLLQVKMRKRYSVDKT
LSHPWLQDYQTWLDLRELECKIGERYITHESDDLRWEKYAGEQGLQYPTHLINPSASHSDTPETEETEMKALGERVSIL*



SNP Information


Context              (SEQ ID NO:1396):
CCACAGTGTGCCAGTACTGCAAGAAGCTTCTGAAGGGGCTTTTCAGGCAGGGCTTGCAGTGCAAAGATTGCAGATTCAACTGCCATAAACGTTGTGCACC
R
AAAGTACCAAACAACTGCCTTGGCGAAGTGACCATTAATGGAGATTTGCTTAGCCCTGGGGCAGAGTCTGATGTGGTCATGGAAGAAGGGAGTGATGACA
Celera SNP ID:                hCV16179932
SNP Position Transcript:      1150
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 314,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2884|A,60) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 314,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1397):
CTGTGAGTATTTCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTT
W
GGAATTGTTTATGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTC
Celera SNP ID:                hCV31333664
SNP Position Transcript:      1990
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 594,(F,TTT) (L,TTA)



Context              (SEQ ID NO:1398):
CGTCATTCCCAAGGGCTCCTCCGTGGGTACAGGAACCAACTTGCACAGAGATATCTCTGTGAGTATTTCAGTATCAAATTGCCAGATTCAAGAAAATGTG
K
ACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTTATGGAGGAAAACATCGTAAAACAGGAAGAGATGT
Celera SNP ID:                hCV31333662
SNP Position Transcript:      1934
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 576,(D,GAC) (Y,TAC)



Context              (SEQ ID NO:1399):
CGCTACATCACCCATGAAAGTGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAGGGGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCC
R
CAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCTCTGAGTTCCATCTCCTATAATCTGTCAAAACACTGTG
Celera SNP ID:                hCV25592609
SNP Position Transcript:      2781
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,0|A,36)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 858,(H,CAC) (R,CGC)



Context              (SEQ ID NO:1400):
TCAGTATCAAATTGCCAGATTCAAGAAAATGTGGACATCAGCACAGTATATCAGATTTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTT
W
TGGAGGAAAACATCGTAAAACAGGAAGAGATGTAGCTATTAAAATCATTGACAAATTACGATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGTT
Celera SNP ID:                hCV31333663
SNP Position Transcript:      2001
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 598,(Y,TAT) (F,TTT)



Context              (SEQ ID NO:1401):
TGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGAGAAAGCGCTACAGTGTGGATAA
R
ACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAGTGATG
Celera SNP ID:                hCV31333689
SNP Position Transcript:      2605
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 799,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1402):
GACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGCTACATCACCCATGAAAGTGATGACCTGAGGTGGGAGAAGTATGCAGGCGAGCAG
S
GGCTGCAGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAG
Celera SNP ID:                hCV8710998
SNP Position Transcript:      2738
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,92) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 844,(G,GGG) (R,CGG)



Context              (SEQ ID NO:1403):
AAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAGCACATAACGAAGTTTTTAATTACTCAGGTGAAACTTTGTGATTTTGGTTTTGCCCGGATCAT
Y
GGAGAGAAGTCTTTCCGGAGGTCAGTGGTGGGTACCCCCGCTTACCTGGCTCCTGAGGTCCTAAGGAACAAGGGCTACAATCGCTCTCTAGACATGTGGT
Celera SNP ID:                hCV2821340
SNP Position Transcript:      2311
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,26|C,10)  african american(T,8|C,30)  total(T,34|C,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 701,(I,ATT) (I,ATC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|C,11)  african american(T,7|C,29)  total(T,34|C,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 701,(I,ATT) (I,ATC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,10|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 701,(I,ATT) (I,ATC)



Context              (SEQ ID NO:1404):
CAAATTCAGAATGCAGCTTTCATGTATCCACCAAATCCCTGGAAGGAAATATCTCATGAAGCCATTGATCTTATCAACAATTTGCTGCAAGTAAAAATGA
R
AAAGCGCTACAGTGTGGATAAGACCTTGAGCCACCCTTGGCTACAGGACTATCAGACCTGGTTAGATTTGCGAGAGCTGGAATGCAAAATCGGGGAGCGC
Celera SNP ID:                hCV31333688
SNP Position Transcript:      2583
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:329, 792,(R,AGA) (K,AAA)



Context              (SEQ ID NO:1405):
GATTTCCAACAAAACAAGAAAGCCAGCTTCGTAATGAGGTTGCAATTCTACAGAACCTTCATCACCCTGGTGTTGTAAATTTGGAGTGTATGTTTGAGAC
K
CCTGAAAGAGTGTTTGTTGTTATGGAAAAACTCCATGGAGACATGCTGGAAATGATCTTGTCAAGTGAAAAGGGCAGGTTGCCAGAGCACATAACGAAGT
Celera SNP ID:                hCV25766411
SNP Position Transcript:      2161
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|G,39)  african american(T,0|G,38)  total(T,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 651,(T,ACG) (T,ACT)



Context              (SEQ ID NO:1406):
AGTACCCCACACACCTGATCAATCCAAGTGCTAGCCACAGTGACACTCCTGAGACTGAAGAAACAGAAATGAAAGCCCTCGGTGAGCGTGTCAGCATCCT
M
TGAGTTCCATCTCCTATAATCTGTCAAAACACTGTGGAACTAATAAATACATACGGTCAGGTTTAACATTTGCCTTGCAGAACTGCCATTATTTTCTGTC
Celera SNP ID:                hCV8711007
SNP Position Transcript:      2845
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:329, 879,(L,CTC) (L,CTA)



Context              (SEQ ID NO:1407):
GTGTCCCATTGGTGTTGTCATTGTAAACAAACTCTTGAAGAGTCGATTATTTCCAGTGTTCTATGAACAACTCCAAAACCCATGTGGGAAAAAAATGAAT
R
AGGAGGGTAGGGAATAAAATCCTAAGACACAAATGCATGAACAAGTTTTAATGTATAGTTTTGAATCCTTTGCCTGCCTGGTGTGCCTCAGTATATTTAA
Celera SNP ID:                hCV8711008
SNP Position Transcript:      3314
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,48|A,44) ; no_pop(G,-|A,-) ; no_pop(G,48|A,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:329, None



Gene Number:                  29
Celera Gene:                  hCG1812765 - 104000117112201
Celera Transcript:            hCT1815220 - 104000117112227
Public Transcript Accession:  NM_016281
Celera Protein:               hCP1768484 - 197000069424644
Public Protein Accession:     NP_057365
Gene Symbol:                  JIK
Protein Name:                  STE20-like kinase
Celera Genomic Axis:          GA_x5YUV32W46Y(65836518..66073460)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:69):
AGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAGTTTGCTGCTAAAATGAATCTGAGCAATATGGAATATTTTGTGCCACACA
CAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAAAGCTAACTGATATCAAAAAGCAGAGCCTGCTCTACTGGCCATCATGCG
TAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTATTGGTTTGCATGAAATTGGACATGGAAGTTTT
GGAGCAGTTTATTTTGCTACAAATGCTCACACCAATGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGAAATGGCAAGATA
TTCTTAAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACTTGAAAGAACACACTGCTTGGTTGGTGATGGA
ATATTGCTTAGGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGCTGCCATTACTCATGGAGCCTTGCATGGACTA
GCCTACCTACATTCTCATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCAGGTCAGGTAAAACTAGCTGATTTTGGATCTG
CTTCAATGGCTTCTCCTGCCAACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAGCTATGGATGAAGGACAGTATGATGGGAAAGT
TGATATTTGGTCACTTGGCATCACTTGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAATGCAATGAGTGCCTTATATCACATTGCCCAG
AATGACTCCCCAACGTTACAGTCTAATGAATGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTGCAGAAAATACCTCAGGAAAGGCCAACATCAG
CAGAACTATTAAGGCATGACTTTGTTCGACGAGACCGGCCACTACGTGTCCTCATTGACCTCATACAGAGGACAAAAGATGCAGTTCGTGAGCTAGATAA
CCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAGACACGGAATGGACCCTTGAATGAGTCACAGGAGGATGAGGAAGACAGTGAACATGGAACC
AGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATTCCAAGCATGTCCGTGAGCACAGGCAGCCAGAGCAGCAGTGTGAACAGCATGCAGG
AAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAAAGCACAATCAATTCCAGCTCCTCCGTCGTGCATAAGAAAGATCATGTATT
CATAAGGGATGAGGCGGGCCACGGCGATCCCAGGCCTGAGCCGCGGCCTACCCAGTCAGTTCAGAGCCAGGCCCTCCACTACCGGAACAGAGAGCGCTTT
GCCACGATCAAATCAGCATCTTTGGTTACACGACAGATCCATGAGCATGAGCAGGAGAACGAGTTGCGGGAACAGATGTCAGGTTATAAGCGGATGCGGC
GCCAGCACCAGAAGCAGCTGATCGCCCTGGAGAACAAGCTGAAGGCTGAGATGGACGAGCACCGCCTCAAGCTACAGAAGGAGGTGGAGACGCATGCCAA
CAACTCGTCCATCGAGCTGGAGAAGCTGGCCAAGAAGCAAGTGGCTATCATAGAAAAGGAGGCAAAGGTAGCTGCAGCAGATGAGAAGAAGTTCCAGCAA
CAGATCTTGGCCCAGCAGAAGAAAGATTTGACAACTTTCTTAGAAAGTCAGAAGAAGCAGTATAAGATTTGTAAGGAAAAAATAAAAGAGGAAATGAATG
AGGACCATAGCACACCCAAGAAAGAGAAGCAAGAGCGGATCTCCAAACATAAAGAGAACTTGCAGCACACACAGGCTGAAGAGGAAGCCCACCTTCTCAC
TCAACAGAGACTGTACTACGACAAAAATTGTCGTTTCTTCAAGCGGAAAATAATGATCAAGCGGCACGAGGTGGAGCAGCAGAACATTCGGGAGGAACTA
AATAAAAAGAGGACCCAGAAGGAGATGGAGCATGCCATGCTAATCCGGCACGACGAGTCCACCCGAGAGCTAGAGTACAGGCAGCTGCACACGTTACAGA
AGCTACGCATGGATCTGATCCGTTTACAGCACCAGACGGAACTGGAAAACCAGCTGGAGTACAATAAGAGGCGAGAAAGAGAACTGCACAGAAAGCATGT
CATGGAACTTCGGCAACAGCCAAAAAACTTAAAGGCCATGGAAATGCAAATTAAAAAACAGTTTCAGGACACTTGCAAAGTACAGACCAAACAGTATAAA
GCACTCAAGAATCACCAGTTGGAAGTTACTCCAAAGAATGAGCACAAAACAATCTTAAAGACACTGAAAGATGAGCAGACAAGAAAACTTGCCATTTTGG
CAGAGCAGTATGAACAGAGTATAAATGAAATGATGGCCTCTCAAGCGTTACGGCTAGATGAGGCTCAAGAAGCAGAATGCCAGGCCTTGAGGCTACAGCT
CCAGCAGGAAATGGAGCTGCTCAACGCCTACCAGAGCAAAATCAAGATGCAAACAGAGGCACAACATGAACGTGAGCTCCAGAAGCTAGAGCAGAGAGTG
TCTCTGCGCAGAGCACACCTTGAGCAGAAGATTGAAGAGGAGCTGGCTGCCCTTCAGAAGGAACGCAGCGAGAGAATAAAGAACCTATTGGAAAGGCAAG
AGCGAGAGATTGAAACTTTTGACATGGAGAGCCTCAGAATGGGATTTGGGAATTTGGTTACATTAGATTTTCCTAAGGAGGACTACAGATGAGATTAAAT
TTTTTGCCATTTACAAAAAAAAAAAAAAAAAAGAAAACAGAAAAAAATTCAGACCCTGCAAAACCACATTCCCCATTTTAACGGGCGTTGCTCTCACTCT
CTCTCTCTCTTACTCTTACTGACATCGTGTCGGACTAGTGCCTGTTTATTCTTACTCCATCAGGGGCCCCCTTCCTCCCCCCGTGTCAACTTTCAGTGCT
GGCCAAAACCTGGCCGTCTCTTCTATTCACAGTACACGTCACAGTATTGATGTGATTCAAAATGTTTCAGTGAAAACTTTGGAGACAGTTTTAACAAAAC
CAATAAACCAACAACAAAAAAAGTGGATGTATATTGCTTTAAGCAATCACTCATTACCACCAATCTGTGAAAGTAAAGCAAAAAATAATAATAATAAATG
CCAAGGGGGAGAGAGACACAATATCCGCAGCCTTACACCTTAACTAGCTGCTGCATTATTTTATTTTATTTTATTTTTTTGGTATTTATTCATCAGGAAT
AAAAAAAACAAAGTTTTATTAAAGATTGAAAATTTGATACATTTTACAGAAACTAATTGTGATGTACATATCAGTGGTGACATATTATTACTTTTTTGGG
GACGGGGGGTGGGTGGGGTGAAGAGATCTTGTGATTTTTAAGAACCTGCTGGCAAGAGTTTAACTTGTCTTCAGCATATTCTGATTGTATCATAATCATT
TTCTGCTGTTGCAGAGGATGTGAATACACTTAAGGAGCTCACAGAATCCCAGTAGCACAAATTGGGCTTTGGCAAATCGTGTATTTTGTGTATAGAAGGA
ATTTAAGGAGAGGTATTACTTATTTTCATATTGTATTTTAACTGTTTCTCTGATCAAATTTTTTTACTTCCTCCTCCTGTTCCTCCCCACCTCCCTCCTT
TTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCTCCCTTCCCCTTCCTAAGTCCCATTTCTTGGTCA
TAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAAAGGCTTTACTTCTTTTGCATGCACTTTAAAAA
CAAAACAAAACATTTTTCAGGTTCCAAGGAAGAGCATGATAACTGTCAGAGCTTTTAATTATATTTGTAAATAAAAGTGTTCATCACATC


Protein Sequence     (SEQ ID NO:330):
MRKGVLKDPEIADLFYKDDPEELFIGLHEIGHGSFGAVYFATNAHTNEVVAIKKMSYSGKQTHEKWQDILKEVKFLRQLKHPNTIEYKGCYLKEHTAWLV
MEYCLGSASDLLEVHKKPLQEVEIAAITHGALHGLAYLHSHALIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDG
KVDIWSLGITCIELAERKPPLFNMNAMSALYHIAQNDSPTLQSNEWTDSFRRFVDYCLQKIPQERPTSAELLRHDFVRRDRPLRVLIDLIQRTKDAVREL
DNLQYRKMKKILFQETRNGPLNESQEDEEDSEHGTSLNREMDSLGSNHSIPSMSVSTGSQSSSVNSMQEVMDESSSELVMMHDDESTINSSSSVVHKKDH
VFIRDEAGHGDPRPEPRPTQSVQSQALHYRNRERFATIKSASLVTRQIHEHEQENELREQMSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETH
ANNSSIELEKLAKKQVAIIEKEAKVAAADEKKFQQQILAQQKKDLTTFLESQKKQYKICKEKIKEEMNEDHSTPKKEKQERISKHKENLQHTQAEEEAHL
LTQQRLYYDKNCRFFKRKIMIKRHEVEQQNIREELNKKRTQKEMEHAMLIRHDESTRELEYRQLHTLQKLRMDLIRLQHQTELENQLEYNKRRERELHRK
HVMELRQQPKNLKAMEMQIKKQFQDTCKVQTKQYKALKNHQLEVTPKNEHKTILKTLKDEQTRKLAILAEQYEQSINEMMASQALRLDEAQEAECQALRL
QLQQEMELLNAYQSKIKMQTEAQHERELQKLEQRVSLRRAHLEQKIEEELAALQKERSERIKNLLERQEREIETFDMESLRMGFGNLVTLDFPKEDYR*



SNP Information


Context              (SEQ ID NO:1408):
AGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAG
W
TTGCTGCTAAAATGAATCTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAA
Celera SNP ID:                hDV71061859
SNP Position Transcript:      52
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:330, None



Context              (SEQ ID NO:1409):
CCAAGAAAGAGAAGCAAGAGCGGATCTCCAAACATAAAGAGAACTTGCAGCACACACAGGCTGAAGAGGAAGCCCACCTTCTCACTCAACAGAGACTGTA
Y
TACGACAAAAATTGTCGTTTCTTCAAGCGGAAAATAATGATCAAGCGGCACGAGGTGGAGCAGCAGAACATTCGGGAGGAACTAAATAAAAAGAGGACCC
Celera SNP ID:                hCV31832177
SNP Position Transcript:      2016
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:330, 607,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1410):
TTCCTCCTCCTGTTCCTCCCCACCTCCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCT
Y
CCTTCCCCTTCCTAAGTCCCATTTCTTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAA
Celera SNP ID:                hCV11493991
SNP Position Transcript:      3868
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:330, None



Context              (SEQ ID NO:1411):
CCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCTCCCTTCCCCTTCCTAAGTCCCATTT
Y
TTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAAAGGCTTTACTTCTTTTGCATGCACT
Celera SNP ID:                hCV7524457
SNP Position Transcript:      3893
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:330, None



Gene Number:                  29
Celera Gene:                  hCG1812765 - 104000117112201
Celera Transcript:            hCT1957568 - 104000117112251
Public Transcript Accession:
Celera Protein:               hCP1765132 - 197000069424645
Public Protein Accession:
Gene Symbol:                  JIK
Protein Name:                  STE20-like kinase
Celera Genomic Axis:          GA_x5YUV32W46Y(65836518..66073460)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:70):
GCGGCCGCGGGAGGGTCCTTGTGGCGCCGGGCGGCGGGGTCCTGCGTGGAGAGTGGGACGCAACGCCGAGACCGCGAGCAGAGGCTGCGCACAGCCGGAT
CCGGCACTCAGCGACCGGACCCAAGGATCCGCCGGGGAACAAGCCACAGGAGAGCGACTCAGGAACAAGTGTGGGAGAGGAAGCGGCGGCGGCGGCGCCG
GGCCCGGGGGTGGTGACAGCAGGTCTGAGGTAGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAGTTTGCTGCTAAAATGAAT
CTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAAAGCTAACTGATATCAAA
AAGCAGAGCCTGCTCTACTGGCCATCATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTAT
TGGTTTGCATGAAATTGGACATGGAAGTTTTGGAGCAGTTTATTTTGCTACAAATGCTCACACCAATGAGGTGGTGGCAATTAAGAAGATGTCCTATAGT
GGGAAGCAGACCCATGAGAAATGGCAAGATATTCTTAAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACT
TGAAAGAACACACTGCTTGGTTGGTGATGGAATATTGCTTAGGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGC
TGCCATTACTCATGGAGCCTTGCATGGACTAGCCTACCTACATTCTCATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCA
GGTCAGGTAAAACTAGCTGATTTTGGATCTGCTTCAATGGCTTCTCCTGCCAACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAG
CTATGGATGAAGGACAGTATGATGGGAAAGTTGATATTTGGTCACTTGGCATCACTTGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAA
TGCAATGAGTGCCTTATATCACATTGCCCAGAATGACTCCCCAACGTTACAGTCTAATGAATGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTG
CAGAAAATACCTCAGGAAAGGCCAACATCAGCAGAACTATTAAGGGCATGACTTTGTTCGACGAGACCGGCCACTACGTGTCCTCATTGACCTCATACAG
AGGACAAAAGATGCAGTTCGTGAGCTAGATAACCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAGACACGGAATGGACCCTTGAATGAGTCAC
AGGAGGATGAGGAAGACAGTGAACATGGAACCAGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATTCCAAGCATGTCCGTGAGCACAGG
CAGCCAGAGCAGCAGTGTGAACAGCATGCAGGAAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAAAGCACAATCAATTCCAGC
TCCTCCGTCGTGCATAAGAAAGTAGGATCATGTATTCATAAGGGATGAGGCGGGCCACGGCGATCCCAGGCCTGAGCCGCGGCCTACCCAGTCAGTTCAG
AGCCAGGCCCTCCACTACCGGAACAGAGAGCGCTTTGCCACGATCAAATCAGCATCTTTGGTAAGCAAACACCCCTCTACCCACGTTACACGACAGATCC
ATGAGCATGAGCAGGAGAACGAGTTGCGGGAACAGATGTCAGGTTATAAGCGGATGCGGCGCCAGCACCAGAAGCAGCTGATCGCCCTGGAGAACAAGCT
GAAGGCTGAGATGGACGAGCACCGCCTCAAGCTACAGAAGGAGGTGGAGACGCATGCCAACAACTCGTCCATCGAGCTGGAGAAGCTGGCCAAGAAGCAA
GTGGCTATCATAGAAAAGGAGGCAAAGGTAGCTGCAGCAGATGAGAAGAAGTTCCAGCAACAGATCTTGGCCCAGCAGAAGAAAGATTTGACAACTTTCT
TAGAAAGTCAGAAGAAGCAGTATAAGATTTGTAAGGAAAAAATAAAAGAGGAAATGAATGAGGACCATAGCACACCCAAGAAAGAGAAGCAAGAGCGGAT
CTCCAAACATAAAGAGAACTTGCAGCACACACAGGCTGAAGAGGAAGCCCACCTTCTCACTCAACAGAGACTGTACTACGACAAAAATTGTCGTTTCTTC
AAGCGGAAAATAATGATCAAGCGGCACGAGGTGGAGCAGCAGAACATTCGGGAGGAACTAAATAAAAAGAGGACCCAGAAGGAGATGGAGCATGCCATGC
TAATCCGGCACGACGAGTCCACCCGAGAGCTAGAGTACAGGCAGCTGCACACGTTACAGAAGCTACGCATGGATCTGATCCGTTTACAGCACCAGACGGA
ACTGGAAAACCAGCTGGAGTACAATAAGAGGCGAGAAAGAGAACTGCACAGAAAGCATGTCATGGAACTTCGGCAACAGCCAAAAAACTTAAAGGCCATG
GAAATGCAAATTAAAAAACAGTTTCAGGACACTTGCAAAGTACAGACCAAACAGTATAAAGCACTCAAGAATCACCAGTTGGAAGTTACTCCAAAGAATG
AGCACAAAACAATCTTAAAGACACTGAAAGATGAGCAGACAAGAAAACTTGCCATTTTGGCAGAGCAGTATGAACAGAGTATAAATGAAATGATGGCCTC
TCAAGCGTTACGGCTAGATGAGGCTCAAGAAGCAGAATGCCAGGCCTTGAGGCTACAGCTCCAGCAGGAAATGGAGCTGCTCAACGCCTACCAGAGCAAA
ATCAAGATGCAAACAGAGGCACAACATGAACGTGAGCTCCAGAAGCTAGAGCAGAGAGTGTCTCTGCGCAGAGCACACCTTGAGCAGAAGATTGAAGAGG
AGCTGGCTGCCCTTCAGAAGGAACGCAGCGAGAGAATAAAGAACCTATTGGAAAGGCAAGAGCGAGAGATTGAAACTTTTGACATGGAGAGCCTCAGAAT
GGGATTTGGGAATTTGGTTACATTAGATTTTCCTAAGGAGGACTACAGATGAGATTAAATTTTTTGCCATTTACAAAAAAAAAAAAAAAAAAGAAAACAG
AAAAAAATTCAGACCCTGCAAAACCACATTCCCCATTTTAACGGGCGTTGCTCTCACTCTCTCTCTCTCTTACTCTTACTGACATCGTGTCGGACTAGTG
CCTGTTTATTCTTACTCCATCAGGGGCCCCCTTCCTCCCCCCGTGTCAACTTTCAGTGCTGGCCAAAACCTGGCCGTCTCTTCTATTCACAGTACACGTC
ACAGTATTGATGTGATTCAAAATGTTTCAGTGAAAACTTTGGAGACAGTTTTAACAAAACCAATAAACCAACAACAAAAAAAGTGGATGTATATTGCTTT
AAGCAATCACTCATTACCACCAATCTGTGAAAGTAAAGCAAAAAATAATAATAATAAATGCCAAGGGGGAGAGAGACACAATATCCGCAGCCTTACACCT
TAACTAGCTGCTGCATTATTTTATTTTATTTTATTTTTTTGGTATTTATTCATCAGGAATAAAAAAAACAAAGTTTTATTAAAGATTGAAAATTTGATAC
ATTTTACAGAAACTAATTGTGATGTACATATCAGTGGTGACATATTATTACTTTTTTGGGGACGGGGGGTGGGTGGGGTGAAGAGATCTTGTGATTTTTA
AGAACCTGCTGGCAAGAGTTTAACTTGTCTTCAGCATATTCTGATTGTATCATAATCATTTTCTGCTGTTGCAGAGGATGTGAATACACTTAAGGAGCTC
ACAGAATCCCAGTAGCACAAATTGGGCTTTGGCAAATCGTGTATTTTGTGTATAGAAGGAATTTAAGGAGAGGTATTACTTATTTTCATATTGTATTTTA
ACTGTTTCTCTGATCAAATTTTTTTACTTCCTCCTCCTGTTCCTCCCCACCTCCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATC
AGATCATCTTGATCTTTTTCTTTATCTCCCTTCCCCTTCCTAAGTCCCATTTCTTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTC
TTACAATAAAAAATGATGAAAAAAAAAAAGGCTTTACTTCTTTTGCATGCACTTTAAAAACAAAACAAAACATTTTTCAGGTTCCAAGGAAGAGCATGAT
AACTGTCAGAGCTTTTAATTATATTTGTAAATAAAAGTGTTCATCACATC


Protein Sequence     (SEQ ID NO:331):
MSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETHANNSSIELEKLAKKQVAIIEKEAKVAAADEKKFQQQILAQQKKDLTTFLESQKKQYKICK
EKIKEEMNEDHSTPKKEKQERISKHKENLQHTQAEEEAHLLTQQRLYYDKNCRFFKRKIMIKRHEVEQQNIREELNKKRTQKEMEHAMLIRHDESTRELE
YRQLHTLQKLRMDLIRLQHQTELENQLEYNKRRERELHRKHVMELRQQPKNLKAMEMQIKKQFQDTCKVQTKQYKALKNHQLEVTPKNEHKTILKTLKDE
QTRKLAILAEQYEQSINEMMASQALRLDEAQEAECQALRLQLQQEMELLNAYQSKIKMQTEAQHERELQKLEQRVSLRRAHLEQKIEEELAALQKERSER
IKNLLERQEREIETFDMESLRMGFGNLVTLDFPKEDYR*



SNP Information


Context              (SEQ ID NO:1412):
GCGGCGGCGGCGGCGCCGGGCCCGGGGGTGGTGACAGCAGGTCTGAGGTAGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAG
W
TTGCTGCTAAAATGAATCTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAA
Celera SNP ID:                hDV71061859
SNP Position Transcript:      283
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:331, None



Context              (SEQ ID NO:1413):
CCAAGAAAGAGAAGCAAGAGCGGATCTCCAAACATAAAGAGAACTTGCAGCACACACAGGCTGAAGAGGAAGCCCACCTTCTCACTCAACAGAGACTGTA
Y
TACGACAAAAATTGTCGTTTCTTCAAGCGGAAAATAATGATCAAGCGGCACGAGGTGGAGCAGCAGAACATTCGGGAGGAACTAAATAAAAAGAGGACCC
Celera SNP ID:                hCV31832177
SNP Position Transcript:      2276
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:331, 147,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1414):
TTCCTCCTCCTGTTCCTCCCCACCTCCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCT
Y
CCTTCCCCTTCCTAAGTCCCATTTCTTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAA
Celera SNP ID:                hCV11493991
SNP Position Transcript:      4128
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:331, None



Context              (SEQ ID NO:1415):
CCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCTCCCTTCCCCTTCCTAAGTCCCATTT
Y
TTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAAAGGCTTTACTTCTTTTGCATGCACT
Celera SNP ID:                hCV7524457
SNP Position Transcript:      4153
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:331, None



Gene Number:                  29
Celera Gene:                  hCG1812765 - 104000117112201
Celera Transcript:            hCT2309071 - 104000117112276
Public Transcript Accession:
Celera Protein:               hCP1881382 - 197000069424646
Public Protein Accession:
Gene Symbol:                  JIK
Protein Name:                  STE20-like kinase
Celera Genomic Axis:          GA_x5YUV32W46Y(65836518..66073460)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:71):
GCGGCCGCGGGAGGGTCCTTGTGGCGCCGGGCGGCGGGGTCCTGCGTGGAGAGTGGGACGCAACGCCGAGACCGCGAGCAGAGGCTGCGCACAGCCGGAT
CCGGCACTCAGCGACCGGACCCAAGGATCCGCCGGGGAACAAGCCACAGGAGAGCGACTCAGGAACAAGTGTGGGAGAGGAAGCGGCGGCGGCGGCGCCG
GGCCCGGGGGTGGTGACAGCAGGTCTGAGGTAGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAGTTTGCTGCTAAAATGAAT
CTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAAAGCTAACTGATATCAAA
AAGCAGAGCCTGCTCTACTGGCCATCATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTAT
TGGTTTGCATGAAATTGGACATGGAAGTTTTGGAGCAGTTTATTTTGCTACAAATGCTCACACCAATGAGGTGGTGGCAATTAAGAAGATGTCCTATAGT
GGGAAGCAGACCCATGAG


Protein Sequence     (SEQ ID NO:332):
RPREGPCGAGRRGPAWRVGRNAETASRGCAQPDPALSDRTQGSAGEQATGERLRNKCGRGSGGGGAGPGGGDSRSEVGCIINTKD*


SNP Information


Context              (SEQ ID NO:1416):
CTATTCTACAAAGATGATCCTGAGGAACTTTTTATTGGTTTGCATGAAATTGGACATGGAAGTTTTGGAGCAGTTTATTTTGCTACAAATGCTCACACCA
R
TGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAG
Celera SNP ID:                hCV674099
SNP Position Transcript:      566
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,952|G,440) ; no_pop(A,85|
G,35)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:332, None



Gene Number:                  29
Celera Gene:                  hCG1812765 - 104000117112201
Celera Transcript:            hCT2309073 - 104000117112202
Public Transcript Accession:  NM_016281
Celera Protein:               hCP1881379 - 197000069424643
Public Protein Accession:     NP_057365
Gene Symbol:                  JIK
Protein Name:                  STE20-like kinase
Celera Genomic Axis:          GA_x5YUV32W46Y(65836518..66073460)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:72):
GCGGCCGCGGGAGGGTCCTTGTGGCGCCGGGCGGCGGGGTCCTGCGTGGAGAGTGGGACGCAACGCCGAGACCGCGAGCAGAGGCTGCGCACAGCCGGAT
CCGGCACTCAGCGACCGGACCCAAGGATCCGCCGGGGAACAAGCCACAGGAGAGCGACTCAGGAACAAGTGTGGGAGAGGAAGCGGCGGCGGCGGCGCCG
GGCCCGGGGGTGGTGACAGCAGGTCTGAGGTAGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAGTTTGCTGCTAAAATGAAT
CTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAAAGCTAACTGATATCAAA
AAGCAGAGCCTGCTCTACTGGCCATCATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTAT
TGGTTTGCATGAAATTGGACATGGAAGTTTTGGAGCAGTTTATTTTGCTACAAATGCTCACACCAATGAGGTGGTGGCAATTAAGAAGATGTCCTATAGT
GGGAAGCAGACCCATGAGAAATGGCAAGATATTCTTAAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACT
TGAAAGAACACACTGCTTGGTTGGTGATGGAATATTGCTTAGGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGC
TGCCATTACTCATGGAGCCTTGCATGGACTAGCCTACCTACATTCTCATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCA
GGTCAGGTAAAACTAGCTGATTTTGGATCTGCTTCAATGGCTTCTCCTGCCAACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAG
CTATGGATGAAGGACAGTATGATGGGAAAGTTGATATTTGGTCACTTGGCATCACTTGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAA
TGCAATGAGTGCCTTATATCACATTGCCCAGAATGACTCCCCAACGTTACAGTCTAATGAATGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTG
CAGAAAATACCTCAGGAAAGGCCAACATCAGCAGAACTATTAAGGCATGACTTTGTTCGACGAGACCGGCCACTACGTGTCCTCATTGACCTCATACAGA
GGACAAAAGATGCAGTTCGTGAGCTAGATAACCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAGACACGGAATGGACCCTTGAATGAGTCACA
GGAGGATGAGGAAGACAGTGAACATGGAACCAGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATTCCAAGCATGTCCGTGAGCACAGGC
AGCCAGAGCAGCAGTGTGAACAGCATGCAGGAAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAAAGCACAATCAATTCCAGCT
CCTCCGTCGTGCATAAGAAAGATCATGTATTCATAAGGGATGAGGCGGGCCACGGCGATCCCAGGCCTGAGCCGCGGCCTACCCAGTCAGTTCAGAGCCA
GGCCCTCCACTACCGGAACAGAGAGCGCTTTGCCACGATCAAATCAGCATCTTTGGTTACACGACAGATCCATGAGCATGAGCAGGAGAACGAGTTGCGG
GAACAGATGTCAGGTTATAAGCGGATGCGGCGCCAGCACCAGAAGCAGCTGATCGCCCTGGAGAACAAGCTGAAGGCTGAGATGGACGAGCACCGCCTCA
AGCTACAGAAGGAGGTGGAGACGCATGCCAACAACTCGTCCATCGAGCTGGAGAAGCTGGCCAAGAAGCAAGTGGCTATCATAGAAAAGGAGGCAAAGGT
AGCTGCAGCAGATGAGAAGAAGTTCCAGCAACAGATCTTGGCCCAGCAGAAGAAAGATTTGACAACTTTCTTAGAAAGTCAGAAGAAGCAGTATAAGATT
TGTAAGGAAAAAATAAAAGAGGAAATGAATGAGGACCATAGCACACCCAAGAAAGAGAAGCAAGAGCGGATCTCCAAACATAAAGAGAACTTGCAGCACA
CACAGGCTGAAGAGGAAGCCCACCTTCTCACTCAACAGAGACTGTACTACGACAAAAATTGTCGTTTCTTCAAGCGGAAAATAATGATCAAGCGGCACGA
GGTGGAGCAGCAGAACATTCGGGAGGAACTAAATAAAAAGAGGACCCAGAAGGAGATGGAGCATGCCATGCTAATCCGGCACGACGAGTCCACCCGAGAG
CTAGAGTACAGGCAGCTGCACACGTTACAGAAGCTACGCATGGATCTGATCCGTTTACAGCACCAGACGGAACTGGAAAACCAGCTGGAGTACAATAAGA
GGCGAGAAAGAGAACTGCACAGAAAGCATGTCATGGAACTTCGGCAACAGCCAAAAAACTTAAAGGCCATGGAAATGCAAATTAAAAAACAGTTTCAGGA
CACTTGCAAAGTACAGACCAAACAGTATAAAGCACTCAAGAATCACCAGTTGGAAGTTACTCCAAAGAATGAGCACAAAACAATCTTAAAGACACTGAAA
GATGAGCAGACAAGAAAACTTGCCATTTTGGCAGAGCAGTATGAACAGAGTATAAATGAAATGATGGCCTCTCAAGCGTTACGGCTAGATGAGGCTCAAG
AAGCAGAATGCCAGGCCTTGAGGCTACAGCTCCAGCAGGAAATGGAGCTGCTCAACGCCTACCAGAGCAAAATCAAGATGCAAACAGAGGCACAACATGA
ACGTGAGCTCCAGAAGCTAGAGCAGAGAGTGTCTCTGCGCAGAGCACACCTTGAGCAGAAGATTGAAGAGGAGCTGGCTGCCCTTCAGAAGGAACGCAGC
GAGAGAATAAAGAACCTATTGGAAAGGCAAGAGCGAGAGATTGAAACTTTTGACATGGAGAGCCTCAGAATGGGATTTGGGAATTTGGTTACATTAGATT
TTCCTAAGGAGGACTACAGATGAGATTAAATTTTTTGCCATTTACAAAAAAAAAAAAAAAAAAGAAAACAGAAAAAAATTCAGACCCTGCAAAACCACAT
TCCCCATTTTAACGGGCGTTGCTCTCACTCTCTCTCTCTCTTACTCTTACTGACATCGTGTCGGACTAGTGCCTGTTTATTCTTACTCCATCAGGGGCCC
CCTTCCTCCCCCCGTGTCAACTTTCAGTGCTGGCCAAAACCTGGCCGTCTCTTCTATTCACAGTACACGTCACAGTATTGATGTGATTCAAAATGTTTCA
GTGAAAACTTTGGAGACAGTTTTAACAAAACCAATAAACCAACAACAAAAAAAGTGGATGTATATTGCTTTAAGCAATCACTCATTACCACCAATCTGTG
AAAGTAAAGCAAAAAATAATAATAATAAATGCCAAGGGGGAGAGAGACACAATATCCGCAGCCTTACACCTTAACTAGCTGCTGCATTATTTTATTTTAT
TTTATTTTTTTGGTATTTATTCATCAGGAATAAAAAAAACAAAGTTTTATTAAAGATTGAAAATTTGATACATTTTACAGAAACTAATTGTGATGTACAT
ATCAGTGGTGACATATTATTACTTTTTTGGGGACGGGGGGTGGGTGGGGTGAAGAGATCTTGTGATTTTTAAGAACCTGCTGGCAAGAGTTTAACTTGTC
TTCAGCATATTCTGATTGTATCATAATCATTTTCTGCTGTTGCAGAGGATGTGAATACACTTAAGGAGCTCACAGAATCCCAGTAGCACAAATTGGGCTT
TGGCAAATCGTGTATTTTGTGTATAGAAGGAATTTAAGGAGAGGTATTACTTATTTTCATATTGTATTTTAACTGTTTCTCTGATCAAATTTTTTTACTT
CCTCCTCCTGTTCCTCCCCACCTCCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCTCC
CTTCCCCTTCCTAAGTCCCATTTCTTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAAA
GGCTTTACTTCTTTTGCATGCACTTTAAAAACAAAACAAAACATTTTTCAGGTTCCAAGGAAGAGCATGATAACTGTCAGAGCTTTTAATTATATTTGTA
AATAAAAGTGTTCATCACATC


Protein Sequence     (SEQ ID NO:333):
MRKGVLKDPEIADLFYKDDPEELFIGLHEIGHGSFGAVYFATNAHTNEVVAIKKMSYSGKQTHEKWQDILKEVKFLRQLKHPNTIEYKGCYLKEHTAWLV
MEYCLGSASDLLEVHKKPLQEVEIAAITHGALHGLAYLHSHALIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDG
KVDIWSLGITCIELAERKPPLFNMNAMSALYHIAQNDSPTLQSNEWTDSFRRFVDYCLQKIPQERPTSAELLRHDFVRRDRPLRVLIDLIQRTKDAVREL
DNLQYRKMKKILFQETRNGPLNESQEDEEDSEHGTSLNREMDSLGSNHSIPSMSVSTGSQSSSVNSMQEVMDESSSELVMMHDDESTINSSSSVVHKKDH
VFIRDEAGHGDPRPEPRPTQSVQSQALHYRNRERFATIKSASLVTRQIHEHEQENELREQMSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETH
ANNSSIELEKLAKKQVAIIEKEAKVAAADEKKFQQQILAQQKKDLTTFLESQKKQYKICKEKIKEEMNEDHSTPKKEKQERISKHKENLQHTQAEEEAHL
LTQQRLYYDKNCRFFKRKIMIKRHEVEQQNIREELNKKRTQKEMEHAMLIRHDESTRELEYRQLHTLQKLRMDLIRLQHQTELENQLEYNKRRERELHRK
HVMELRQQPKNLKAMEMQIKKQFQDTCKVQTKQYKALKNHQLEVTPKNEHKTILKTLKDEQTRKLAILAEQYEQSINEMMASQALRLDEAQEAECQALRL
QLQQEMELLNAYQSKIKMQTEAQHERELQKLEQRVSLRRAHLEQKIEEELAALQKERSERIKNLLERQEREIETFDMESLRMGFGNLVTLDFPKEDYR*



SNP Information


Context              (SEQ ID NO:1417):
GCGGCGGCGGCGGCGCCGGGCCCGGGGGTGGTGACAGCAGGTCTGAGGTAGGTTGCATCATAAATACAAAGGACTGAAGTTATAAAAGAGAAAAGAGAAG
W
TTGCTGCTAAAATGAATCTGAGCAATATGGAATATTTTGTGCCACACACAAAAAGGTACTGAAGATTTACCCCCCAAAAAAAATTGTCAATGAGAAATAA
Celera SNP ID:                hDV71061859
SNP Position Transcript:      283
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:333, None



Context              (SEQ ID NO:1418):
CCAAGAAAGAGAAGCAAGAGCGGATCTCCAAACATAAAGAGAACTTGCAGCACACACAGGCTGAAGAGGAAGCCCACCTTCTCACTCAACAGAGACTGTA
Y
TACGACAAAAATTGTCGTTTCTTCAAGCGGAAAATAATGATCAAGCGGCACGAGGTGGAGCAGCAGAACATTCGGGAGGAACTAAATAAAAAGAGGACCC
Celera SNP ID:                hCV31832177
SNP Position Transcript:      2247
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:333, 607,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1419):
TTCCTCCTCCTGTTCCTCCCCACCTCCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCT
Y
CCTTCCCCTTCCTAAGTCCCATTTCTTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAA
Celera SNP ID:                hCV11493991
SNP Position Transcript:      4099
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:333, None



Context              (SEQ ID NO:1420):
CCCTCCTTTTCCAGTTCAGTATTTGGAGTTCAACACTGTCTCTCAATCAGATCATCTTGATCTTTTTCTTTATCTCCCTTCCCCTTCCTAAGTCCCATTT
Y
TTGGTCATAAATATTGCATTATTCACACTTTCAAACTGTGTATTTTCTTACAATAAAAAATGATGAAAAAAAAAAAGGCTTTACTTCTTTTGCATGCACT
Celera SNP ID:                hCV7524457
SNP Position Transcript:      4124
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:333, None



Gene Number:                  30
Celera Gene:                  hCG1813702 - 84000314249943
Celera Transcript:            hCT1813456 - 84000314249944
Public Transcript Accession:
Celera Protein:               hCP1769703 - 197000069466234
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VYAU(10616292..10629743)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:73):
CTCTCCTTCTCCTCCTCCTCCTCCTGGGGCTCCTACCCCGCTTCCTCTCGGCTCTCCCTTATCTCTCCGGCACGGTCTCTGACTATCTCTTACTCACGGT
GTCTCCCCGCCCCTCCCTCCGCAGCCGGGGGCCAATTCCGCGAGAGGACAAATTAGTAAAAGGCAGAGCAGTCCCCGGGGAGGGGCCAGCGCGGGGGGAC
ATGCGGGGGCTGGGGCGCGGCGGAAGGGCACGCGGGGAAACGAGGGGGAGGGGCGGGCAAGGGGTATTTTTAACCAGGGGCAGCAGCTCGAGTTGCAGGG
CCGGACGGCCGCACCCCACGCGCGCCCTGGCGGGCATTCCGGGGCGATTGTGCGGCGGCGCCGCCTCCCGCAGCCCCGGGCCCGCCCGGTCCCCAGCTCC
CCTCGCTCCGCGCGACCGCAGCTGCTCCCGCCGTTCCCAGCCAGCCCCGGCGCGGGGCCGAGATTACCTCGGGCTGCGGCAGCTGCTCTGAGGAGGGGCC
GGGCTGGCAGCGAGCAGACCCCTGCCGGACACTCAGCAAACGGCAGCCTCACCCCGCAGGGCCGCGCCACTCCCCTTCCCCACCCCACCGCCGCGTCCCG
GCTCAGCGCTCCCCGGGGAACGCAGGGGGACCGGGCTCGCTGCGTGACCTTGGGCTCTCAGCCCACCCACCTGGAAGCGCCCATGTGTCACCTTACCCAG
GAGAGGGCGGCAGAGGCTGCGAGCAGGACGGCAGCCCCCTCTCCCCACCCCCAGGACCCTGAGATCCTGCTTCACGGGCTGCAAGAAGTTGGGGGGCCAG
GATTCGGCGCGGAGGCCGGGGGTGTGGGTGGGGAGACTGCAGAGACTCCCGAGACCCCCCCAAGTCAGGGCTTTTCGCTGGTCTCGCAGCCCCAGCCCAG
CAGCTGCTGCAGTCTTGCATGTTGTGGATGCAAGCATTTTGCTGAGGAAACTGCATAGCGTTCCCAGGACTCTAGGGCCCACGACCCCTCAAAAGTTAAG
AGCCGCTGATCTAATCTAACCCCACTTTCACCCTCAGTTAACAAAAGAGGAAAACTGAGGCCTGAGAGGGTGTGACTTGTTTGATAACTATTTAGGATAC
ACCATCAAAATTTAACTCAAACTGGATTACACACCTAAATATAAATGGCCAAACCATAAAACTTTTTTTTTTAAAAATGG


Protein Sequence     (SEQ ID NO:334):
MRGLGRGGRARGETRGRGGQGVFLTRGSSSSCRAGRPHPTRALAGIPGRLCGGAASRSPGPARSPAPLAPRDRSCSRRSQPAPARGRDYLGLRQLL*


SNP Information


Context              (SEQ ID NO:1421):
GGGTGTGGGTGGGGAGACTGCAGAGACTCCCGAGACCCCCCCAAGTCAGGGCTTTTCGCTGGTCTCGCAGCCCCAGCCCAGCAGCTGCTGCAGTCTTGCA
K
GTTGTGGATGCAAGCATTTTGCTGAGGAAACTGCATAGCGTTCCCAGGACTCTAGGGCCCACGACCCCTCAAAAGTTAAGAGCCGCTGATCTAATCTAAC
Celera SNP ID:                hCV2756558
SNP Position Transcript:      920
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|G,2)  african american(T,20|G,4)  total(T,40|G,6)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:334, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,16|G,12)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:334, None



Gene Number:                  31
Celera Gene:                  hCG1817513 - 79000075426332
Celera Transcript:            hCT1959809 - 79000075426333
Public Transcript Accession:
Celera Protein:               hCP1768323 - 197000064931069
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VU5C(5677647..5693021)
Chromosome:                   22
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:74):
TGTGATTTCATCTGGAATTACTGGAATCACACTGTCTCCTGTCAGCTTTCTCTCCCTCCCCCGGCCCTCCTGCTGATGAGAGACAGGAGCGATGGATGGT
CTGAGTTAGCGGGGTCCCGGCACCACCCAGCGCAAAGGCACTGCACTCACGCACGCCATGCACATGCTGGCTCACATCCTCCATCCCATGCCTCCCCTGT
CTCCAGCATTCCCTCTGGAATACATCAGCACTGTTGCCTTTGAGGCTGGCCTGCTTGAATGCACACCTGAGCTCCGGATTCACAGAGTCTCACTCTATCG
CCAGGCTGGAGTGGTGCAGTGGCAAGATCTCGGCTCACTACAGTCTCCACCTCCAGGGTTCAAGCCATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGAC
TACAGTTACACACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGGATGGTCTCGATCTCCTGACCTCATGA
TCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCTGATAAAACCATCTTGAATGACCTTCATCACTGTGAACAGT
GATGCAGTGGCTTTATAAACTCTAGAATGTGCTA


Protein Sequence     (SEQ ID NO:335):
MHMLAHILHPMPPLSPAFPLEYISTVAFEAGLLECTPELRIHRVSLYRQAGVVQWQDLGSLQSPPPGFKPFSCLSLPSSWDYSYTPPHPANFCIFSRDGV
SPCCPGWSRSPDLMICPPWPPKVLGLQA*



SNP Information


Context              (SEQ ID NO:1422):
TCTCCCTCCCCCGGCCCTCCTGCTGATGAGAGACAGGAGCGATGGATGGTCTGAGTTAGCGGGGTCCCGGCACCACCCAGCGCAAAGGCACTGCACTCAC
R
CACGCCATGCACATGCTGGCTCACATCCTCCATCCCATGCCTCCCCTGTCTCCAGCATTCCCTCTGGAATACATCAGCACTGTTGCCTTTGAGGCTGGCC
Celera SNP ID:                hCV25933972
SNP Position Transcript:      151
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,35|A,1)  total(G,71|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:335, None



Context              (SEQ ID NO:1423):
CCTGTCAGCTTTCTCTCCCTCCCCCGGCCCTCCTGCTGATGAGAGACAGGAGCGATGGATGGTCTGAGTTAGCGGGGTCCCGGCACCACCCAGCGCAAAG
R
CACTGCACTCACGCACGCCATGCACATGCTGGCTCACATCCTCCATCCCATGCCTCCCCTGTCTCCAGCATTCCCTCTGGAATACATCAGCACTGTTGCC
Celera SNP ID:                hCV335228
SNP Position Transcript:      138
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,7|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:335, None



Context              (SEQ ID NO:1424):
CATCCTCCATCCCATGCCTCCCCTGTCTCCAGCATTCCCTCTGGAATACATCAGCACTGTTGCCTTTGAGGCTGGCCTGCTTGAATGCACACCTGAGCTC
Y
GGATTCACAGAGTCTCACTCTATCGCCAGGCTGGAGTGGTGCAGTGGCAAGATCTCGGCTCACTACAGTCTCCACCTCCAGGGTTCAAGCCATTCTCTTG
Celera SNP ID:                hCV2234747
SNP Position Transcript:      275
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:335, 40,(R,CGG) (W,TGG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:335, 40,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1425):
TACTGGAATCACACTGTCTCCTGTCAGCTTTCTCTCCCTCCCCCGGCCCTCCTGCTGATGAGAGACAGGAGCGATGGATGGTCTGAGTTAGCGGGGTCCC
R
GCACCACCCAGCGCAAAGGCACTGCACTCACGCACGCCATGCACATGCTGGCTCACATCCTCCATCCCATGCCTCCCCTGTCTCCAGCATTCCCTCTGGA
Celera SNP ID:                hCV25933628
SNP Position Transcript:      119
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,34|A,2)  total(G,70|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:335, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,31|A,1)  total(G,69|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:335, None



Context              (SEQ ID NO:1426):
ATGAGAGACAGGAGCGATGGATGGTCTGAGTTAGCGGGGTCCCGGCACCACCCAGCGCAAAGGCACTGCACTCACGCACGCCATGCACATGCTGGCTCAC
M
TCCTCCATCCCATGCCTCCCCTGTCTCCAGCATTCCCTCTGGAATACATCAGCACTGTTGCCTTTGAGGCTGGCCTGCTTGAATGCACACCTGAGCTCCG
Celera SNP ID:                hCV335227
SNP Position Transcript:      176
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|A,18)  african american(C,9|A,23)  total(C,11|A,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:335, 7,(I,ATC) (L,CTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,9|A,25)  african american(C,7|A,25)  total(C,16|A,50)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:335, 7,(I,ATC) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,10|C,6) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:335, 7,(I,ATC) (L,CTC)



Gene Number:                  32
Celera Gene:                  hCG1820462 - 118000094838389
Celera Transcript:            hCT1970568 - 118000094838390
Public Transcript Accession:
Celera Protein:               hCP1783905 - 197000069427743
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(10029548..10083189)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:75):
CTGTGCAATTCGGGTGAGTTCCTTCACCCTTCTGAGCCATCCCTTGGCTCGTCTGGAAAATGCAAAAAAAAAAAAAAGAAAAACACCAGGTTTTTGCATC
CTCCTGGATGAGGGATATAAAGTGCCTGACACAGCATATGACAGGGATTTGATAAATGGGGGCTGTTAGCTGTCCCATTGTGGATGTGAGAATAGCATTC
TGCTGGCTAAAAGGCAGACATGAATGTTCTAGAACATGGCGATCCCGGAATGTGCAGTGAAGGCAGGAAGAGGAAGAATGGGCAGGGAAGAACAAGTTGG
GATGGAGGAATGAACTCTTATCTCCAGAAGCAGAGCTAAGAATGCCCACGGAGCCTTGGCACATGACAGCCTCCGCTGAGCCAAATGGCCCAAAGACTTC
TGAATGAGCTTTTGCTGCAACAAAAAACTTTGGATCATTTTGAGAGCCTCCCGTGAGGTGCCAATATGTTGCAGTACCTTCCCGGCCCCGACACTGATGT
GATTCATCGTAGGTAACATATGAATACGCTCAAGCTGGCCAGCAGCTTGAAAAATTGGAGTCTATCAAATTGACCTTGAGAAACACAGGAAGGTAATATT
TAGTGACATACCAGATGAAATCCTTGCGCAGAGATGTGAGGTGAGGAAGGACCTGAAGTGAAGTAGACCAGCAAATATCAAGGGTCAAGGAGTTGGGGGA
TGATATAGAGACGAAGCCTAACAGATGTCACCAGAGCAAGAAGGCCTTACGACTTCACATCCTCTCTGCAGGGTATGAATGGTGCAATGGAATGAAATGG
TAACTACAGCTTCTGGTGCAAAATTTGAGTTTCCATAATCATCATCTTGGGAAAATGAGGAACACAATATAATGGCATACACAGAGAACAAGTGAAAAGA
TGAGAGATGATGAACAGGTTGAGTTTCTTCAGCCTACAACCTATCAAATCTAATTTTAAACATCTGGAGCCACGTGTATTAGTTTTGTTTCTGTTCCATT
TTCCTTTTTCTGTGTCCCCGACGGTGAATGATTCTGAATAATTCTTAGTCTGGG


Protein Sequence     (SEQ ID NO:336):
CAIRVSSFTLLSHPLARLENAKKKKRKTPGFCILLDEGYKVPDTAYDRDLINGGC*


SNP Information


Context              (SEQ ID NO:1427):
AAAAAAAAAAAAAGAAAAACACCAGGTTTTTGCATCCTCCTGGATGAGGGATATAAAGTGCCTGACACAGCATATGACAGGGATTTGATAAATGGGGGCT
R
TTAGCTGTCCCATTGTGGATGTGAGAATAGCATTCTGCTGGCTAAAAGGCAGACATGAATGTTCTAGAACATGGCGATCCCGGAATGTGCAGTGAAGGCA
Celera SNP ID:                hCV25933625
SNP Position Transcript:      165
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,10)  african american(G,38|A,0)  total(G,66|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:336, 55,(C,TGT) (Y,TAT)



Context              (SEQ ID NO:1428):
CTGTGCAATTCGGGTGAGTTCCTTCACCCTTCTGAGCCATC
Y
CTTGGCTCGTCTGGAAAATGCAAAAAAAAAAAAAAGAAAAACACCAGGTTTTTGCATCCTCCTGGATGAGGGATATAAAGTGCCTGACACAGCATATGAC
Celera SNP ID:                hCV25933156
SNP Position Transcript:      42
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:336, 14,(P,CCC) (L,CTC)



Context              (SEQ ID NO:1429):
CTGTGCAATTCGGGTGAGTTCCTTCACC
Y
TTCTGAGCCATCCCTTGGCTCGTCTGGAAAATGCAAAAAAAAAAAAAAGAAAAACACCAGGTTTTTGCATCCTCCTGGATGAGGGATATAAAGTGCCTGA
Celera SNP ID:                hCV25933143
SNP Position Transcript:      29
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,36)  african american(T,4|C,34)  total(T,8|C,70)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:336, 10,(L,CTT) (F,TTT)



Context              (SEQ ID NO:1430):
GCACATGACAGCCTCCGCTGAGCCAAATGGCCCAAAGACTTCTGAATGAGCTTTTGCTGCAACAAAAAACTTTGGATCATTTTGAGAGCCTCCCGTGAGG
Y
GCCAATATGTTGCAGTACCTTCCCGGCCCCGACACTGATGTGATTCATCGTAGGTAACATATGAATACGCTCAAGCTGGCCAGCAGCTTGAAAAATTGGA
Celera SNP ID:                hCV16101644
SNP Position Transcript:      459
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,85|C,33)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:336, None



Context              (SEQ ID NO:1431):
AGTCTATCAAATTGACCTTGAGAAACACAGGAAGGTAATATTTAGTGACATACCAGATGAAATCCTTGCGCAGAGATGTGAGGTGAGGAAGGACCTGAAG
K
GAAGTAGACCAGCAAATATCAAGGGTCAAGGAGTTGGGGGATGATATAGAGACGAAGCCTAACAGATGTCACCAGAGCAAGAAGGCCTTACGACTTCACA
Celera SNP ID:                hCV31816383
SNP Position Transcript:      659
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:336, None



Context              (SEQ ID NO:1432):
ACCTGAAGTGAAGTAGACCAGCAAATATCAAGGGTCAAGGAGTTGGGGGATGATATAGAGACGAAGCCTAACAGATGTCACCAGAGCAAGAAGGCCTTAC
R
ACTTCACATCCTCTCTGCAGGGTATGAATGGTGCAATGGAATGAAATGGTAACTACAGCTTCTGGTGCAAAATTTGAGTTTCCATAATCATCATCTTGGG
Celera SNP ID:                hCV3285454
SNP Position Transcript:      751
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:336, None



Context              (SEQ ID NO:1433):
CAGAGCAAGAAGGCCTTACGACTTCACATCCTCTCTGCAGGGTATGAATGGTGCAATGGAATGAAATGGTAACTACAGCTTCTGGTGCAAAATTTGAGTT
W
CCATAATCATCATCTTGGGAAAATGAGGAACACAATATAATGGCATACACAGAGAACAAGTGAAAAGATGAGAGATGATGAACAGGTTGAGTTTCTTCAG
Celera SNP ID:                hCV31816384
SNP Position Transcript:      832
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:336, None



Context              (SEQ ID NO:1434):
GTGCAATGGAATGAAATGGTAACTACAGCTTCTGGTGCAAAATTTGAGTTTCCATAATCATCATCTTGGGAAAATGAGGAACACAATATAATGGCATACA
S
AGAGAACAAGTGAAAAGATGAGAGATGATGAACAGGTTGAGTTTCTTCAGCCTACAACCTATCAAATCTAATTTTAAACATCTGGAGCCACGTGTATTAG
Celera SNP ID:                hCV31816385
SNP Position Transcript:      882
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:336, None



Gene Number:                  32
Celera Gene:                  hCG1820462 - 118000094838389
Celera Transcript:            hCT2252011 - 118000094838395
Public Transcript Accession:
Celera Protein:               hCP1884480 - 197000069427744
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(10029548..10083189)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:76):
ATGGGCCATGGGGTGGAGCAGACAGACTTGGAGTTTGGAAGCCAGATGGACCAAGCAAGGAGCCTGACTCTGAGCTCACCAGCTGTGCAATTCGGGCCAA
GATCACATGTGCACCATGGAGGGCAAAAGACTTGGCGGTTTCGAACCCTATGGTTTAAAGGAAAGTCAATGTTAGAAAACATAACATCAACACAAGAATT
CCTGACTGTAGTTACGGTACCTCCAGTGGTCACAATGGACTCGCTCAAGATACTGTGGCCTTGTGACCAGCCAGAAATGGACGAGGTGCCCTCTTATCCC
GAGCAGCTCAAGGAGGAAAAAGGCATCTTCTCCATTTCAGATGTGTCTTTCTGGGTGAAGGGATCTCCATTTGCGTTAACATCCCTGACCCCCTCTGCCA
CTCACTTATTCCTGCTCAAGGGAGCTGATCCAACTTATGTTGTGAATGATAGAAACTTGCTACCAATGAAGCTTGCCCTAACTGTCAGCGAAGCTATTTT
CAGCAATGGTACAATTTCTCCACCTGAAAGCAGGCTCATCAAA


Protein Sequence     (SEQ ID NO:337):
MGHGVEQTDLEFGSQMDQARSLTLSSPAVQFGPRSHVHHGGQKTWRFRTLWFKGKSMLENITSTQEFLTVVTVPPVVTMDSLKILWPCDQPEMDEVPSYP
EQLKEEKGIFSISDVSFWVKGSPFALTSLTPSATHLFLLKGADPTYVVNDRNLLPMKLALTVSEAIFSNGTISPPESRLIK



SNP Information


Context              (SEQ ID NO:1435):
ATGGGCCATGGGGTGGAGCAGACAGACTTG
S
AGTTTGGAAGCCAGATGGACCAAGCAAGGAGCCTGACTCTGAGCTCACCAGCTGTGCAATTCGGGCCAAGATCACATGTGCACCATGGAGGGCAAAAGAC
Celera SNP ID:                hCV25932744
SNP Position Transcript:      31
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|C,0)  african american(G,37|C,1)  total(G,77|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:337, 11,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:1436):
ATGGGCCATGGGGTGGAGCAGACAGACTTGGAGTTTGGAAGCCAGATGGACCAAGCAAGGAG
M
CTGACTCTGAGCTCACCAGCTGTGCAATTCGGGCCAAGATCACATGTGCACCATGGAGGGCAAAAGACTTGGCGGTTTCGAACCCTATGGTTTAAAGGAA
Celera SNP ID:                hCV3285455
SNP Position Transcript:      63
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,8|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:337, 21,(S,AGC) (R,AGA)



Context              (SEQ ID NO:1437):
TGGGCCATGGGGTGGAGCAGACAGACTTGGAGTTTGGAAGCCAGATGGACCAAGCAAGGAGCCTGACTCTGAGCTCACCAGCTGTGCAATTCGGGCCAAG
R
TCACATGTGCACCATGGAGGGCAAAAGACTTGGCGGTTTCGAACCCTATGGTTTAAAGGAAAGTCAATGTTAGAAAACATAACATCAACACAAGAATTCC
Celera SNP ID:                hCV15971168
SNP Position Transcript:      102
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:337, 34,(R,AGA) (R,AGG)



Context              (SEQ ID NO:1438):
TCCAGTGGTCACAATGGACTCGCTCAAGATACTGTGGCCTTGTGACCAGCCAGAAATGGACGAGGTGCCCTCTTATCCCGAGCAGCTCAAGGAGGAAAAA
R
GCATCTTCTCCATTTCAGATGTGTCTTTCTGGGTGAAGGGATCTCCATTTGCGTTAACATCCCTGACCCCCTCTGCCACTCACTTATTCCTGCTCAAGGG
Celera SNP ID:                hCV349013
SNP Position Transcript:      322
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,9|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:337, 108,(G,GGC) (S,AGC)



Gene Number:                  33
Celera Gene:                  hCG18361 - 146000219954173
Celera Transcript:            hCT1686484 - 146000219954180
Public Transcript Accession:  NM_005544
Celera Protein:               hCP1689867 - 197000064940966
Public Protein Accession:     NP_005535
Gene Symbol:                  IRS1
Protein Name:                  insulin receptor substrate 1
Celera Genomic Axis:          GA_x5YUV32VWPT(32277472..32354535)
Chromosome:                   2
OMIM NUMBER:                  147545
OMIM Information:             {Diabetes mellitus, noninsulin-dependent} (3)


Transcript Sequence  (SEQ ID NO:77):
CGGCGGCGCGGTCGGAGGGGGCCGGCGCGCAGAGCCAGACGCCGCCGCTTGTTTTGGTTGGGGCTCTCGGCAACTCTCCGAGGAGGAGGAGGAGGAGGGA
GGAGGGGAGAAGTAACTGCAGCGGCAGCGCCTCCCGAGGAACAGGCGTCTTCCCCGAACCCTTCCCAAACCTCCCCCATCCCCTCTCGCCCTTGTCCCCT
CCCCTCCTCCCCAGCCGCCTGGAGCGAGGGGCAGGGATGAGTCTGTCCCTCCGGCCGGTCCCCAGCTGCAGTGGCTGCCCGGTATCGTTTCGCATGGAAA
AGCCACTTTCTCCACCCGCCGAGATGGGCCCGGATGGGGGCTGCAGAGGACGCGCCCGCGGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCA
ACAGCCGCAGCGCCGCGGTCTCTGCGACTGAGCTGGTATTTGGGCGGCTGGTGGCGGCTGGGACGGTTGGGGGGTGGGAGGAGGCGAAGGAGGAGGGAGA
ACCCCGTGCAACGTTGGGACTTGGCAACCCGCCTCCCCCTGCCCAAGGATATTTAATTTGCCTCGGGAATCGCTGCTTCCAGAGGGGAACTCAGGAGGGA
AGGCGCGCGCGCGCGCGCGCTCCTGGAGGGGCACCGCAGGGACCCCCGACTGTCGCCTCCCTGTGCCGGACTCCAGCCGGGGCGACGAGAGATGCATCTT
CGCTCCTTCCTGGTGGCGGCGGCGGCTGAGAGGAGACTTGGCTCTCGGAGGATCGGGGCTGCCCTCACCCCGGACGCACTGCCTCCCCGCCGGGCGTGAA
GCGCCCGAAAACTCCGGTCGGGCTCTCTCCTGGGCTCAGCAGCTGCGTCCTCCTTCAGCTGCCCCTCCCCGGCGCGGGGGGCGGCGTGGATTTCAGAGTC
GGGGTTTCTGCTGCCTCCAGCCCTGTTTGCATGTGCCGGGCCGCGGCGAGGAGCCTCCGCCCCCCACCCGGTTGTTTTTCGGAGCCTCCCTCTGCTCAGC
GTTGGTGGTGGCGGTGGCAGCATGGCGAGCCCTCCGGAGAGCGATGGCTTCTCGGACGTGCGCAAGGTGGGCTACCTGCGCAAACCCAAGAGCATGCACA
AACGCTTCTTCGTACTGCGCGCGGCCAGCGAGGCTGGGGGCCCGGCGCGCCTCGAGTACTACGAGAACGAGAAGAAGTGGCGGCACAAGTCGAGCGCCCC
CAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACTCCAAGAACAAGCACCTGGTGGCTCTCTACACCCGGGACGAGCACTTT
GCCATCGCGGCGGACAGCGAGGCCGAGCAAGACAGCTGGTACCAGGCTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAGCTGCGGCCC
TCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCTTGGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGACCCGCATT
CAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACCATCAGC
TTCGTGAAGCTGAACTCGGAGGCAGCGGCCGTGGTGCTGCAGCTGATGAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCC
GTTCTGCCGTGACGGGGCCCGGGGAGTTCTGGATGCAGGTGGATGACTCTGTGGTGGCCCAGAACATGCACGAGACCATCCTGGAGGCCATGCGGGCCAT
GAGTGATGAGTTCCGCCCTCGCAGCAAGAGCCAGTCCTCGTCCAACTGCTCTAACCCCATCAGCGTCCCCCTGCGCCGGCACCATCTCAACAATCCCCCG
CCCAGCCAGGTGGGGCTGACCCGCCGATCACGCACTGAGAGCATCACCGCCACCTCCCCGGCCAGCATGGTGGGCGGGAAGCCAGGCTCCTTCCGTGTCC
GCGCCTCCAGTGACGGCGAAGGCACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCG
GGGCAGCGCCCGGCTGCACCCCCCGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCG
TCCAGTAGCACCAGTGGCCATGGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGATGGCGGTTTCATCT
CCTCGGATGAGTATGGCTCCAGTCCCTGCGATTTCCGGAGTTCCTTCCGCAGTGTCACTCCGGATTCCCTGGGCCACACCCCACCAGCCCGCGGTGAGGA
GGAGCTAAGCAACTATATCTGCATGGGTGGCAAGGGGCCCTCCACCCTGACCGCCCCCAACGGTCACTACATTTTGTCTCGGGGTGGCAATGGCCACCGC
TGCACCCCAGGAACAGGCTTGGGCACGAGTCCAGCCTTGGCTGGGGATGAAGCAGCCAGTGCTGCAGATCTGGATAATCGGTTCCGAAAGAGAACTCACT
CGGCAGGCACATCCCCTACCATTACCCACCAGAAGACCCCGTCCCAGTCCTCAGTGGCTTCCATTGAGGAGTACACAGAGATGATGCCTGCCTACCCACC
AGGAGGTGGCAGTGGAGGCCGACTGCCGGGACACAGGCACTCCGCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAG
CGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAA
AGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACCCCAA
TGGCTACATGATGATGTCCCCCAGCGGTGGCTGCTCTCCTGACATTGGAGGTGGCCCCAGCAGCAGCAGCAGCAGCAGCAACGCCGTCCCTTCCGGGACC
AGCTATGGAAAGCTGTGGACAAACGGGGTAGGGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGCGGTGGTAAGCTCTTAC
CTTGCACAGGTGACTACATGAACATGTCACCAGTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGACCCCCAGCACAAGCC
AGTCCTCTCCTACTACTCATTGCCAAGATCCTTTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACT
AGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGC
CCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGACCAATAGCCGCCTGGCCCGGCCCACGAG
GCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAGAGCCCG
GGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATCCCAGC
TCCAGCCAGCTCCCAGAGAGGAAGAGACTGGCACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGGAGAGCACTGGGGT
CGAGATGGGCAGACTGGGCCCTGCACCTCCCGGGGCTGCTAGCATTTGCAGGCCTACCCGGGCAGTGCCCAGCAGCCGGGGTGACTACATGACCATGCAG
ATGAGTTGTCCCCGTCAGAGCTACGTGGACACCTCGCCAGCTGCCCCTGTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGC
CCAGGGCCACCATGGCTGCTGCCTCCTCATCCTCAGCAGCCTCTGCTTCCCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCT
GGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGTCCTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAA
GGGTGCCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGG
GCGGTGGCGGTAGCAGCAGCAGCAGCGAGGATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTGGGGGAGCCCC
CAAGGAGCCAGCCAAACTGTGTGGGGCTGCTGGGGGTTTGGAGAATGGTCTTAACTACATAGACCTGGATTTGGTCAAGGACTTCAAACAGTGCCCTCAG
GAGTGCACCCCTGAACCGCAGCCTCCCCCACCCCCACCCCCTCATCAACCCCTGGGCAGCGGTGAGAGCAGCTCCACCCGCCGCTCAAGTGAGGATTTAA
GCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATTTCGCAGTACTTGTGGCCCACTCTCT
GCAGAGAGTAAATTGAGAGCCCAAGAAGCAGGGCAAAAAGAGCCTCTCAGACTCGGTCATAGCAGCCCTGCCACCTTTACCTGGCATCAAATTTATCTTT
TAGTTTTGAAACTGCAGCTGACAAAGACACAGACCCCAGCCATGCCTTTTGGGTTCAGTTTTTTTGTTTTTGTCATTCTTTGTTATGCCCTCCCCCTTTA
AAAGAAAAAAG


Protein Sequence     (SEQ ID NO:338):
MASPPESDGFSDVRKVGYLRKPKSMHKRFFVLRAASEAGGPARLEYYENEKKWRHKSSAPKRSIPLESCFNINKRADSKNKHLVALYTRDEHFAIAADSE
AEQDSWYQALLQLHNRAKGHHDGAAALGAGGGGGSCSGSSGLGEAGEDLSYGDVPPGPAFKEVWQVILKPKGLGQTKNLIGIYRLCLTSKTISFVKLNSE
AAAVVLQLMNIRRCGHSENFFFIEVGRSAVTGPGEFWMQVDDSVVAQNMHETILEAMRAMSDEFRPRSKSQSSSNCSNPISVPLRRHHLNNPPPSQVGLT
RRSRTESITATSPASMVGGKPGSFRVRASSDGEGTMSRPASVDGSPVSPSTNRTHAHRHRGSARLHPPLNHSRSIPMPASRCSPSATSPVSLSSSSTSGH
GSTSDCLFPRRSSASVSGSPSDGGFISSDEYGSSPCDFRSSFRSVTPDSLGHTPPARGEEELSNYICMGGKGPSTLTAPNGHYILSRGGNGHRCTPGTGL
GTSPALAGDEAASAADLDNRFRKRTHSAGTSPTITHQKTPSQSSVASIEEYTEMMPAYPPGGGSGGRLPGHRHSAFVPTRSYPEEGLEMHPLERRGGHHR
PDSSTLHTDDGYMPMSPGVAPVPSGRKGSGDYMPMSPKSVSAPQQIINPIRRHPQRVDPNGYMMMSPSGGCSPDIGGGPSSSSSSSNAVPSGTSYGKLWT
NGVGGHHSHVLPHPKPPVESSGGKLLPCTGDYMNMSPVGDSNTSSPSDCYYGPEDPQHKPVLSYYSLPRSFKHTQRPGEPEEGARHQHLRLSTSSGRLLY
AATADDSSSSTSSDSLGGGYCGARLEPSLPHPHHQVLQPHLPRKVDTAAQTNSRLARPTRLSLGDPKASTLPRAREQQQQQQPLLHPPEPKSPGEYVNIE
FGSDQSGYLSGPVAFHSSPSVRCPSQLQPAPREEETGTEEYMKMDLGPGRRAAWQESTGVEMGRLGPAPPGAASICRPTRAVPSSRGDYMTMQMSCPRQS
YVDTSPAAPVSYADMRTGIAAEEVSLPRATMAAASSSSAASASPTGPQGAAELAAHSSLLGGPQGPGGMSAFTRVNLSPNRNQSAKVIRADPQGCRRRHS
SETFSSTPSATRVGNTVPFGAGAAVGGGGGSSSSSEDVKRHSSASFENVWLRPGELGGAPKEPAKLCGAAGGLENGLNYIDLDLVKDFKQCPQECTPEPQ
PPPPPPPHQPLGSGESSSTRRSSEDLSAYASISFQKQPEDRQ*



SNP Information


Context              (SEQ ID NO:1439):
CACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGGAGAGCACTGGGGTCGAGATGGGCAGACTGGGCCCTGCACCTCCC
R
GGGCTGCTAGCATTTGCAGGCCTACCCGGGCAGTGCCCAGCAGCCGGGGTGACTACATGACCATGCAGATGAGTTGTCCCCGTCAGAGCTACGTGGACAC
Celera SNP ID:                hCV2384392
SNP Position Transcript:      3932
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,3)  african american(G,31|A,3)  total(G,64|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 971,(G,GGG) (R,AGG)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3734|A,138) ; no_pop(G,15228|A,1008)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 971,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1440):
CAGCGGCCGTGGTGCTGCAGCTGATGAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCCGTTCTGCCGTGACGGGGCCCGG
R
GAGTTCTGGATGCAGGTGGATGACTCTGTGGTGGCCCAGAACATGCACGAGACCATCCTGGAGGCCATGCGGGCCATGAGTGATGAGTTCCGCCCTCGCA
Celera SNP ID:                hCV11930828
SNP Position Transcript:      1723
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,4)  african american(G,35|A,3)  total(G,69|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 234,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,3)  african american(G,35|A,3)  total(G,72|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 234,(G,GGG) (G,GGA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,158|G,2604) ; no_pop(A,24|G,176)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 234,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1441):
GGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAGAGCCC
S
GGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATCCCAGC
Celera SNP ID:                hCV25593898
SNP Position Transcript:      3700
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|C,1)  african american(G,34|C,0)  total(G,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 893,(P,CCG) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|C,1)  african american(G,38|C,0)  total(G,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 893,(P,CCG) (P,CCC)



Context              (SEQ ID NO:1442):
CGGACGTGCGCAAGGTGGGCTACCTGCGCAAACCCAAGAGCATGCACAAACGCTTCTTCGTACTGCGCGCGGCCAGCGAGGCTGGGGGCCCGGCGCGCCT
Y
GAGTACTACGAGAACGAGAAGAAGTGGCGGCACAAGTCGAGCGCCCCCAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACT
Celera SNP ID:                hCV25593889
SNP Position Transcript:      1153
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 44,(L,CTC) (L,CTT)



Context              (SEQ ID NO:1443):
CGAGCGCCCCCAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACTCCAAGAACAAGCACCTGGTGGCTCTCTACACCCGGGA
Y
GAGCACTTTGCCATCGCGGCGGACAGCGAGGCCGAGCAAGACAGCTGGTACCAGGCTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAG
Celera SNP ID:                hCV27470552
SNP Position Transcript:      1291
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2880|T,92) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 90,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1444):
CGTCCCTTCCGGGACCAGCTATGGAAAGCTGTGGACAAACGGGGTAGGGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGC
R
GTGGTAAGCTCTTACCTTGCACAGGTGACTACATGAACATGTCACCAGTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGA
Celera SNP ID:                hCV31240998
SNP Position Transcript:      3185
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 722,(G,GGT) (S,AGT)



Context              (SEQ ID NO:1445):
CCCCGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCA
Y
GGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGATGGCGGTTTCATCTCCTCGGATGAGTATGGCTCCA
Celera SNP ID:                hCV31240999
SNP Position Transcript:      2221
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 400,(H,CAT) (H,CAC)



Context              (SEQ ID NO:1446):
TGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACCCCAATGGCTACATGATGATGTCCCCCAG
Y
GGTGGCTGCTCTCCTGACATTGGAGGTGGCCCCAGCAGCAGCAGCAGCAGCAGCAACGCCGTCCCTTCCGGGACCAGCTATGGAAAGCTGTGGACAAACG
Celera SNP ID:                hCV25593906
SNP Position Transcript:      3025
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 668,(S,AGC) (S,AGT)



Context              (SEQ ID NO:1447):
GGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGTCCTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAAGGGT
R
CCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGGGCGGT
Celera SNP ID:                hCV27536862
SNP Position Transcript:      4305
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1095,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:1448):
ACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCGGGGCAGCGCCCGGCTGCACCCCC
S
GCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGGC
Celera SNP ID:                hCV31241000
SNP Position Transcript:      2124
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 368,(P,CCG) (R,CGG)



Context              (SEQ ID NO:1449):
CTACTACGGCCCTGAGGACCCCCAGCACAAGCCAGTCCTCTCCTACTACTCATTGCCAAGATCCTTTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAG
S
GTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCT
Celera SNP ID:                hDV69172833
SNP Position Transcript:      3368
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 783,(G,GGT) (R,CGT)



Context              (SEQ ID NO:1450):
CGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCT
Y
TTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCT
Celera SNP ID:                hCV8761375
SNP Position Transcript:      3447
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,92|T,1) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 809,(S,TCT) (F,TTT)



Context              (SEQ ID NO:1451):
GCGGCCCTCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCTTGGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGAC
S
CGCATTCAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACC
Celera SNP ID:                hCV8761382
SNP Position Transcript:      1494
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,3|C,90) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 158,(P,CCC) (R,CGC)



Context              (SEQ ID NO:1452):
GTGGCAGTGGAGGCCGACTGCCGGGACACAGGCACTCCGCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCG
R
GGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCA
Celera SNP ID:                hCV25593905
SNP Position Transcript:      2806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,32|A,0)  total(G,69|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 595,(R,CGG) (R,CGA)



Context              (SEQ ID NO:1453):
TGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGT
Y
CTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAAGGGTGCCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCG
Celera SNP ID:                hCV27860083
SNP Position Transcript:      4256
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1079,(P,CCT) (S,TCT)



Context              (SEQ ID NO:1454):
GGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGCGGTGGTAAGCTCTTACCTTGCACAGGTGACTACATGAACATGTCACC
M
GTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGACCCCCAGCACAAGCCAGTCCTCTCCTACTACTCATTGCCAAGATCCT
Celera SNP ID:                hCV27860082
SNP Position Transcript:      3232
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 737,(P,CCA) (P,CCC)



Context              (SEQ ID NO:1455):
CCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTAC
R
TGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGAT
Celera SNP ID:                hCV27529422
SNP Position Transcript:      2858
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 613,(M,ATG) (V,GTG)



Context              (SEQ ID NO:1456):
TGGGAGGAGGCGAAGGAGGAGGGAGAACCCCGTGCAACGTTGGGACTTGGCAACCCGCCTCCCCCTGCCCAAGGATATTTAATTTGCCTCGGGAATCGCT
R
CTTCCAGAGGGGAACTCAGGAGGGAAGGCGCGCGCGCGCGCGCGCTCCTGGAGGGGCACCGCAGGGACCCCCGACTGTCGCCTCCCTGTGCCGGACTCCA
Celera SNP ID:                hCV27828572
SNP Position Transcript:      575
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,14|A,2)  total(G,46|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:338, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:338, None



Context              (SEQ ID NO:1457):
GTGGACACCTCGCCAGCTGCCCCTGTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGCCCAGGGCCACCATGGCTGCTGCCT
Y
CTCATCCTCAGCAGCCTCTGCTTCCCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGC
Celera SNP ID:                hCV31240996
SNP Position Transcript:      4125
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1035,(S,TCC) (F,TTC)



Context              (SEQ ID NO:1458):
AGCCCAAGAGCCCGGGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAG
R
TGTCCATCCCAGCTCCAGCCAGCTCCCAGAGAGGAAGAGACTGGCACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGG
Celera SNP ID:                hCV15851258
SNP Position Transcript:      3787
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,240
)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 922,(R,AGG) (R,AGA)



Context              (SEQ ID NO:1459):
CCCCAACGGTCACTACATTTTGTCTCGGGGTGGCAATGGCCACCGCTGCACCCCAGGAACAGGCTTGGGCACGAGTCCAGCCTTGGCTGGGGATGAAGCA
S
CCAGTGCTGCAGATCTGGATAATCGGTTCCGAAAGAGAACTCACTCGGCAGGCACATCCCCTACCATTACCCACCAGAAGACCCCGTCCCAGTCCTCAGT
Celera SNP ID:                hCV2384389
SNP Position Transcript:      2555
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,252|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 512,(A,GCC) (P,CCC)



Context              (SEQ ID NO:1460):
TTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGGGCGGTGGCGGTAGCAGCAGCAGCAGCGAG
R
ATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTGGGGGAGCCCCCAAGGAGCCAGCCAAACTGTGTGGGGCTGC
Celera SNP ID:                hCV27488110
SNP Position Transcript:      4430
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1422|A,70) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,120
|A,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1137,(D,GAT) (N,AAT)



Context              (SEQ ID NO:1461):
CACGAGGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAG
R
GCCCGGGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATC
Celera SNP ID:                hCV2384391
SNP Position Transcript:      3695
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 892,(S,AGC) (G,GGC)



Context              (SEQ ID NO:1462):
TGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGACCAATAGCC
K
CCTGGCCCGGCCCACGAGGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCT
Celera SNP ID:                hCV31240997
SNP Position Transcript:      3582
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 854,(R,CGC) (L,CTC)



Context              (SEQ ID NO:1463):
GTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGCCCAGGGCCACCATGGCTGCTGCCTCCTCATCCTCAGCAGCCTCTGCTT
M
CCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAAC
Celera SNP ID:                hCV27529212
SNP Position Transcript:      4149
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1043,(S,TCC) (Y,TAC)



Context              (SEQ ID NO:1464):
CGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGA
Y
GGCGGTTTCATCTCCTCGGATGAGTATGGCTCCAGTCCCTGCGATTTCCGGAGTTCCTTCCGCAGTGTCACTCCGGATTCCCTGGGCCACACCCCACCAG
Celera SNP ID:                hCV27488111
SNP Position Transcript:      2287
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1414|C,76) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 422,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1465):
GGGCTCAGCAGCTGCGTCCTCCTTCAGCTGCCCCTCCCCGGCGCGGGGGGCGGCGTGGATTTCAGAGTCGGGGTTTCTGCTGCCTCCAGCCCTGTTTGCA
Y
GTGCCGGGCCGCGGCGAGGAGCCTCCGCCCCCCACCCGGTTGTTTTTCGGAGCCTCCCTCTGCTCAGCGTTGGTGGTGGCGGTGGCAGCATGGCGAGCCC
Celera SNP ID:                hCV27828571
SNP Position Transcript:      932
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,35|C,1)  total(T,75|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:338, None



Context              (SEQ ID NO:1466):
GGACTTCAAACAGTGCCCTCAGGAGTGCACCCCTGAACCGCAGCCTCCCCCACCCCCACCCCCTCATCAACCCCTGGGCAGCGGTGAGAGCAGCTCCACC
Y
GCCGCTCAAGTGAGGATTTAAGCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATTTCGC
Celera SNP ID:                hCV30315279
SNP Position Transcript:      4679
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1220,(R,CGC) (C,TGC)



Context              (SEQ ID NO:1467):
CACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCGGGGCAGCGCCCGGCTGCACCCC
S
CGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGG
Celera SNP ID:                hCV31241001
SNP Position Transcript:      2123
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 368,(P,CCG) (A,GCG)



Context              (SEQ ID NO:1468):
TGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGG
Y
CGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACC
Celera SNP ID:                hCV8761380
SNP Position Transcript:      2896
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,92) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 625,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1469):
CTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAGCTGCGGCCCTCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCT
Y
GGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGACCCGCATTCAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGA
Celera SNP ID:                hCV8761386
SNP Position Transcript:      1447
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,93|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 142,(L,CTT) (L,CTC)



Context              (SEQ ID NO:1470):
GCAGTAGGGGGCGGTGGCGGTAGCAGCAGCAGCAGCGAGGATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTG
R
GGGAGCCCCCAAGGAGCCAGCCAAACTGTGTGGGGCTGCTGGGGGTTTGGAGAATGGTCTTAACTACATAGACCTGGATTTGGTCAAGGACTTCAAACAG
Celera SNP ID:                hCV29135380
SNP Position Transcript:      4491
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 1157,(G,GGG) (E,GAG)



Context              (SEQ ID NO:1471):
CCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGT
S
GGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGAC
Celera SNP ID:                hCV29648394
SNP Position Transcript:      3473
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 818,(G,GGG) (R,CGG)



Context              (SEQ ID NO:1472):
TTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGC
R
GATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGC
Celera SNP ID:                hCV8761376
SNP Position Transcript:      3433
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,3990|G,1032) ; no_pop(A,182|G,4) ; no_pop(A
,-|G,-) ; no_pop(A,228|G,12)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:338, 804,(A,GCA) (A,GCG)



Context              (SEQ ID NO:1473):
ACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACCATCAGCTTCGTGAAGCTGAACTCGGAGGCAGCGGCCGTGGTGCTGCAGCTGA
Y
GAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCCGTTCTGCCGTGACGGGGCCCGGGGAGTTCTGGATGCAGGTGGATGAC
Celera SNP ID:                hCV8761381
SNP Position Transcript:      1647
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,93|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 209,(M,ATG) (T,ACG)



Context              (SEQ ID NO:1474):
GCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACA
S
GGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCT
Celera SNP ID:                hCV32333209
SNP Position Transcript:      2844
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:338, 608,(R,AGG) (T,ACG)



Context              (SEQ ID NO:1475):
CCGCCGCTCAAGTGAGGATTTAAGCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATTTC
K
CAGTACTTGTGGCCCACTCTCTGCAGAGAGTAAATTGAGAGCCCAAGAAGCAGGGCAAAAAGAGCCTCTCAGACTCGGTCATAGCAGCCCTGCCACCTTT
Celera SNP ID:                hCV32333208
SNP Position Transcript:      4778
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:338, None



Context              (SEQ ID NO:1476):
GATTTAAGCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATTTCGCAGTACTTGTGGCCC
R
CTCTCTGCAGAGAGTAAATTGAGAGCCCAAGAAGCAGGGCAAAAAGAGCCTCTCAGACTCGGTCATAGCAGCCCTGCCACCTTTACCTGGCATCAAATTT
Celera SNP ID:                hCV32333207
SNP Position Transcript:      4794
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:338, None



Gene Number:                  33
Celera Gene:                  hCG18361 - 146000219954173
Celera Transcript:            hCT9420 - 146000219954174
Public Transcript Accession:  NM_005544
Celera Protein:               hCP36909 - 197000064940965
Public Protein Accession:     NP_005535
Gene Symbol:                  IRS1
Protein Name:                  insulin receptor substrate 1
Celera Genomic Axis:          GA_x5YUV32VWPT(32277472..32354535)
Chromosome:                   2
OMIM NUMBER:                  147545
OMIM Information:             {Diabetes mellitus, noninsulin-dependent} (3)


Transcript Sequence  (SEQ ID NO:78):
CGGCGGCGCGGTCGGAGGGGGCCGGCGCGCAGAGCCAGACGCCGCCGCTTGTTTTGGTTGGGGCTCTCGGCAACTCTCCGAGGAGGAGGAGGAGGAGGGA
GGAGGGGAGAAGTAACTGCAGCGGCAGCGCCTCCCGAGGAACAGGCGTCTTCCCCGAACCCTTCCCAAACCTCCCCCATCCCCTCTCGCCCTTGTCCCCT
CCCCTCCTCCCCAGCCGCCTGGAGCGAGGGGCAGGGATGAGTCTGTCCCTCCGGCCGGTCCCCAGCTGCAGTGGCTGCCCGGTATCGTTTCGCATGGAAA
AGCCACTTTCTCCACCCGCCGAGATGGGCCCGGATGGGGGCTGCAGAGGACGCGCCCGCGGGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCA
ACAGCCGCAGCGCCGCGGTCTCTGCGACTGAGCTGGTATTTGGGCGGCTGGTGGCGGCTGGGACGGTTGGGGGGTGGGAGGAGGCGAAGGAGGAGGGAGA
ACCCCGTGCAACGTTGGGACTTGGCAACCCGCCTCCCCCTGCCCAAGGATATTTAATTTGCCTCGGGAATCGCTGCTTCCAGAGGGGAACTCAGGAGGGA
AGGCGCGCGCGCGCGCGCGCTCCTGGAGGGGCACCGCAGGGACCCCCGACTGTCGCCTCCCTGTGCCGGACTCCAGCCGGGGCGACGAGAGATGCATCTT
CGCTCCTTCCTGGTGGCGGCGGCGGCTGAGAGGAGACTTGGCTCTCGGAGGATCGGGGCTGCCCTCACCCCGGACGCACTGCCTCCCCGCCGGGCGTGAA
GCGCCCGAAAACTCCGGTCGGGCTCTCTCCTGGGCTCAGCAGCTGCGTCCTCCTTCAGCTGCCCCTCCCCGGCGCGGGGGGCGGCGTGGATTTCAGAGTC
GGGGTTTCTGCTGCCTCCAGCCCTGTTTGCATGTGCCGGGCCGCGGCGAGGAGCCTCCGCCCCCCACCCGGTTGTTTTTCGGAGCCTCCCTCTGCTCAGC
GTTGGTGGTGGCGGTGGCAGCATGGCGAGCCCTCCGGAGAGCGATGGCTTCTCGGACGTGCGCAAGGTGGGCTACCTGCGCAAACCCAAGAGCATGCACA
AACGCTTCTTCGTACTGCGCGCGGCCAGCGAGGCTGGGGGCCCGGCGCGCCTCGAGTACTACGAGAACGAGAAGAAGTGGCGGCACAAGTCGAGCGCCCC
CAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACTCCAAGAACAAGCACCTGGTGGCTCTCTACACCCGGGACGAGCACTTT
GCCATCGCGGCGGACAGCGAGGCCGAGCAAGACAGCTGGTACCAGGCTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAGCTGCGGCCC
TCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCTTGGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGACCCGCATT
CAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACCATCAGC
TTCGTGAAGCTGAACTCGGAGGCAGCGGCCGTGGTGCTGCAGCTGATGAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCC
GTTCTGCCGTGACGGGGCCCGGGGAGTTCTGGATGCAGGTGGATGACTCTGTGGTGGCCCAGAACATGCACGAGACCATCCTGGAGGCCATGCGGGCCAT
GAGTGATGAGTTCCGCCCTCGCAGCAAGAGCCAGTCCTCGTCCAACTGCTCTAACCCCATCAGCGTCCCCCTGCGCCGGCACCATCTCAACAATCCCCCG
CCCAGCCAGGTGGGGCTGACCCGCCGATCACGCACTGAGAGCATCACCGCCACCTCCCCGGCCAGCATGGTGGGCGGGAAGCCAGGCTCCTTCCGTGTCC
GCGCCTCCAGTGACGGCGAAGGCACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCG
GGGCAGCGCCCGGCTGCACCCCCCGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCG
TCCAGTAGCACCAGTGGCCATGGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGATGGCGGTTTCATCT
CCTCGGATGAGTATGGCTCCAGTCCCTGCGATTTCCGGAGTTCCTTCCGCAGTGTCACTCCGGATTCCCTGGGCCACACCCCACCAGCCCGCGGTGAGGA
GGAGCTAAGCAACTATATCTGCATGGGTGGCAAGGGGCCCTCCACCCTGACCGCCCCCAACGGTCACTACATTTTGTCTCGGGGTGGCAATGGCCACCGC
TGCACCCCAGGAACAGGCTTGGGCACGAGTCCAGCCTTGGCTGGGGATGAAGCAGCCAGTGCTGCAGATCTGGATAATCGGTTCCGAAAGAGAACTCACT
CGGCAGGCACATCCCCTACCATTACCCACCAGAAGACCCCGTCCCAGTCCTCAGTGGCTTCCATTGAGGAGTACACAGAGATGATGCCTGCCTACCCACC
AGGAGGTGGCAGTGGAGGCCGACTGCCGGGACACAGGCACTCCGCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAG
CGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAA
AGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACCCCAA
TGGCTACATGATGATGTCCCCCAGCGGTGGCTGCTCTCCTGACATTGGAGGTGGCCCCAGCAGCAGCAGCAGCAGCAGCAACGCCGTCCCTTCCGGGACC
AGCTATGGAAAGCTGTGGACAAACGGGGTAGGGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGCGGTGGTAAGCTCTTAC
CTTGCACAGGTGACTACATGAACATGTCACCAGTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGACCCCCAGCACAAGCC
AGTCCTCTCCTACTACTCATTGCCAAGATCCTTTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACT
AGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGC
CCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGACCAATAGCCGCCTGGCCCGGCCCACGAG
GCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAGAGCCCG
GGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATCCCAGC
TCCAGCCAGCTCCCAGAGAGGAAGAGACTGGCACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGGAGAGCACTGGGGT
CGAGATGGGCAGACTGGGCCCTGCACCTCCCGGGGCTGCTAGCATTTGCAGGCCTACCCGGGCAGTGCCCAGCAGCCGGGGTGACTACATGACCATGCAG
ATGAGTTGTCCCCGTCAGAGCTACGTGGACACCTCGCCAGCTGCCCCTGTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGC
CCAGGGCCACCATGGCTGCTGCCTCCTCATCCTCAGCAGCCTCTGCTTCCCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCT
GGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGTCCTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAA
GGGTGCCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGG
GCGGTGGCGGTAGCAGCAGCAGCAGCGAGGATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTGGGGGAGCCCC
CAAGGAGCCAGCCAAACTGTGTGGGGCTGCTGGGGGTTTGGAGAATGGTCTTAACTACATAGACCTGGATTTGGTCAAGGACTTCAAACAGTGCCCTCAG
GAGTGCACCCCTGAACCGCAGCCTCCCCCACCCCCACCCCCTCATCAACCCCTGGGCAGCGGTGAGAGCAGCTCCACCCGCCGCTCAAGTGAGGATTTAA
GCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATGAAGACCTAAATGACCTCAGCAAATC
CTCTTCTAACTCATGGGTACCCAGACTCTAAATATTTCATGATTCACAACTAGGACCTCATATCTTCCTCATCAGTAGATGGTACGATGCATCCATTTCA
GTTTGTTTACTTTATCCAATCCTCAGGATTTCATTGACTGAACTGCACGTTCTATATTGTGCCAAGCGAAAAAAAAAAATGCACTGTGACACCAGAATAA
TGAGTCTGCATAAACTTCATCTTCAACCTTAAGGACTTAGCTGGCCACAGTGAGCTGATGTGCCCACCACCGTGTCATGAGAGAATGGGTTTACTCTCAA
TGCATTTTCAAGATACATTTCATCTGCTGCTGAAACTGTGTACGACAAAGCATCATTGTAAATTATTTCATACAAAACTGTTCACGTTGGGTGGAGAGAG
TATTAAATATTTAACATAGGTTTTGATTTATATGTGTAATTTTTTAAATGAAAATGTAACTTTTCTTACAGCACATCTTTTTTTTGGATGTGGGATGGAG
GTATACAATGTTCTGTTGTAAAGAGTGGAGCAAATGCTTAAAACAAGGCTTAAAAGAGTAGAATAGGGTATGATCCTTGTTTTAAGATTGTAATTCAGAA
AACATAATATAAGAATCATAGTGCCATAGATGGTTCTCAATTGTATAGTTATATTTGCTGATACTATCTCTTGTCATATAAACCTGATGTTGAGCTGAGT
TCCTTATAAGAATTAATCTTAATTTTGTATTTTTTCCTGTAAGACAATAGGCCATGTTAATTAAACTGAAGAAGGATATATTTGGCTGGGTGTTTTCAAA
TGTCAGCTTAAAATTGGTAATTGAATGGAAGCAAAATTATAAGAAGAGGAAATTAAAGTCTTCCATTGCATGTATTGTAAACAGAAGGAGATGGGTGATT
CCTTCAATTCAAAAGCTCTCTTTGGAATGAACAATGTGGGCGTTTGTAAATTCTGGAAATGTCTTTCTATTCATAATAAACTAGATACTGTTGATCTTTT
CTTCTGTCCCCTCCCCCCACCACTTCTGTAAGTTTCCTGCTCTATTCCCACCATTTTTTTCTGTGCACACATTATGATATATTTCATTTCCTGCATTGTC
TTGAGAAAGATGGTAAGGCAAGTGAGCTGTTGCTAACCAGAAATTAAAATTCCAGTAAGTGTTTTTCATTATGACCAGGGCTATGTGTCACCTTCCCTAA
GACTCTTACCTTATCTCATATTTTTTGAGAACTTCCAGTGTTACATTATTTAACTGAATGTAATTGGCCCATTTGCCTTGGTGGGTGCTGGCCTATTAGT
GATTAGTTAACAAAACACAGCGTACAGAGAGCACAGAAAAGCTTAATGACCTGCTACTGAAACACCTAGCCAGCAGTGAAAATGTTAATTCTTTTCTTGT
TTGGAAAGTATACACGTCTTGGAATTTTTTCCACGTGAAAAACAAATGGCAATGAATGCATTTAAAGATATTGCCGACAGATTTTTAAATCTTTTTACCA
GGAAACTTCCTAAAGGTTAAAT


Protein Sequence     (SEQ ID NO:339):
MASPPESDGFSDVRKVGYLRKPKSMHKRFFVLRAASEAGGPARLEYYENEKKWRHKSSAPKRSIPLESCFNINKRADSKNKHLVALYTRDEHFAIAADSE
AEQDSWYQALLQLHNRAKGHHDGAAALGAGGGGGSCSGSSGLGEAGEDLSYGDVPPGPAFKEVWQVILKPKGLGQTKNLIGIYRLCLTSKTISFVKLNSE
AAAVVLQLMNIRRCGHSENFFFIEVGRSAVTGPGEFWMQVDDSVVAQNMHETILEAMRAMSDEFRPRSKSQSSSNCSNPISVPLRRHHLNNPPPSQVGLT
RRSRTESITATSPASMVGGKPGSFRVRASSDGEGTMSRPASVDGSPVSPSTNRTHAHRHRGSARLHPPLNHSRSIPMPASRCSPSATSPVSLSSSSTSGH
GSTSDCLFPRRSSASVSGSPSDGGFISSDEYGSSPCDFRSSFRSVTPDSLGHTPPARGEEELSNYICMGGKGPSTLTAPNGHYILSRGGNGHRCTPGTGL
GTSPALAGDEAASAADLDNRFRKRTHSAGTSPTITHQKTPSQSSVASIEEYTEMMPAYPPGGGSGGRLPGHRHSAFVPTRSYPEEGLEMHPLERRGGHHR
PDSSTLHTDDGYMPMSPGVAPVPSGRKGSGDYMPMSPKSVSAPQQIINPIRRHPQRVDPNGYMMMSPSGGCSPDIGGGPSSSSSSSNAVPSGTSYGKLWT
NGVGGHHSHVLPHPKPPVESSGGKLLPCTGDYMNMSPVGDSNTSSPSDCYYGPEDPQHKPVLSYYSLPRSFKHTQRPGEPEEGARHQHLRLSTSSGRLLY
AATADDSSSSTSSDSLGGGYCGARLEPSLPHPHHQVLQPHLPRKVDTAAQTNSRLARPTRLSLGDPKASTLPRAREQQQQQQPLLHPPEPKSPGEYVNIE
FGSDQSGYLSGPVAFHSSPSVRCPSQLQPAPREEETGTEEYMKMDLGPGRRAAWQESTGVEMGRLGPAPPGAASICRPTRAVPSSRGDYMTMQMSCPRQS
YVDTSPAAPVSYADMRTGIAAEEVSLPRATMAAASSSSAASASPTGPQGAAELAAHSSLLGGPQGPGGMSAFTRVNLSPNRNQSAKVIRADPQGCRRRHS
SETFSSTPSATRVGNTVPFGAGAAVGGGGGSSSSSEDVKRHSSASFENVWLRPGELGGAPKEPAKLCGAAGGLENGLNYIDLDLVKDFKQCPQECTPEPQ
PPPPPPPHQPLGSGESSSTRRSSEDLSAYASISFQKQPEDRQ*



SNP Information


Context              (SEQ ID NO:1477):
CACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGGAGAGCACTGGGGTCGAGATGGGCAGACTGGGCCCTGCACCTCCC
R
GGGCTGCTAGCATTTGCAGGCCTACCCGGGCAGTGCCCAGCAGCCGGGGTGACTACATGACCATGCAGATGAGTTGTCCCCGTCAGAGCTACGTGGACAC
Celera SNP ID:                hCV2384392
SNP Position Transcript:      3932
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,3)  african american(G,31|A,3)  total(G,64|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 971,(G,GGG) (R,AGG)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3734|A,138) ; no_pop(G,15228|A,1008)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 971,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1478):
CAGCGGCCGTGGTGCTGCAGCTGATGAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCCGTTCTGCCGTGACGGGGCCCGG
R
GAGTTCTGGATGCAGGTGGATGACTCTGTGGTGGCCCAGAACATGCACGAGACCATCCTGGAGGCCATGCGGGCCATGAGTGATGAGTTCCGCCCTCGCA
Celera SNP ID:                hCV11930828
SNP Position Transcript:      1723
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,4)  african american(G,35|A,3)  total(G,69|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 234,(G,GGG) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,3)  african american(G,35|A,3)  total(G,72|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 234,(G,GGG) (G,GGA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,158|G,2604) ; no_pop(A,24|G,176)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 234,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1479):
GGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAGAGCCC
S
GGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATCCCAGC
Celera SNP ID:                hCV25593898
SNP Position Transcript:      3700
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|C,1)  african american(G,34|C,0)  total(G,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 893,(P,CCG) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|C,1)  african american(G,38|C,0)  total(G,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 893,(P,CCG) (P,CCC)



Context              (SEQ ID NO:1480):
CGGACGTGCGCAAGGTGGGCTACCTGCGCAAACCCAAGAGCATGCACAAACGCTTCTTCGTACTGCGCGCGGCCAGCGAGGCTGGGGGCCCGGCGCGCCT
Y
GAGTACTACGAGAACGAGAAGAAGTGGCGGCACAAGTCGAGCGCCCCCAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACT
Celera SNP ID:                hCV25593889
SNP Position Transcript:      1153
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 44,(L,CTC) (L,CTT)



Context              (SEQ ID NO:1481):
CGAGCGCCCCCAAACGCTCGATCCCCCTTGAGAGCTGCTTCAACATCAACAAGCGGGCTGACTCCAAGAACAAGCACCTGGTGGCTCTCTACACCCGGGA
Y
GAGCACTTTGCCATCGCGGCGGACAGCGAGGCCGAGCAAGACAGCTGGTACCAGGCTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAG
Celera SNP ID:                hCV27470552
SNP Position Transcript:      1291
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2880|T,92) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 90,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1482):
CGTCCCTTCCGGGACCAGCTATGGAAAGCTGTGGACAAACGGGGTAGGGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGC
R
GTGGTAAGCTCTTACCTTGCACAGGTGACTACATGAACATGTCACCAGTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGA
Celera SNP ID:                hCV31240998
SNP Position Transcript:      3185
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 722,(G,GGT) (S,AGT)



Context              (SEQ ID NO:1483):
CCCCGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCA
Y
GGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGATGGCGGTTTCATCTCCTCGGATGAGTATGGCTCCA
Celera SNP ID:                hCV31240999
SNP Position Transcript:      2221
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 400,(H,CAT) (H,CAC)



Context              (SEQ ID NO:1484):
TGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACCCCAATGGCTACATGATGATGTCCCCCAG
Y
GGTGGCTGCTCTCCTGACATTGGAGGTGGCCCCAGCAGCAGCAGCAGCAGCAGCAACGCCGTCCCTTCCGGGACCAGCTATGGAAAGCTGTGGACAAACG
Celera SNP ID:                hCV25593906
SNP Position Transcript:      3025
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,35)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 668,(S,AGC) (S,AGT)



Context              (SEQ ID NO:1485):
GGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGTCCTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAAGGGT
R
CCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGGGCGGT
Celera SNP ID:                hCV27536862
SNP Position Transcript:      4305
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1095,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:1486):
ACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCGGGGCAGCGCCCGGCTGCACCCCC
S
GCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGGC
Celera SNP ID:                hCV31241000
SNP Position Transcript:      2124
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 368,(P,CCG) (R,CGG)



Context              (SEQ ID NO:1487):
CTACTACGGCCCTGAGGACCCCCAGCACAAGCCAGTCCTCTCCTACTACTCATTGCCAAGATCCTTTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAG
S
GTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCT
Celera SNP ID:                hDV69172833
SNP Position Transcript:      3368
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 783,(G,GGT) (R,CGT)



Context              (SEQ ID NO:1488):
CGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCT
Y
TTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCT
Celera SNP ID:                hCV8761375
SNP Position Transcript:      3447
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,92|T,1) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 809,(S,TCT) (F,TTT)



Context              (SEQ ID NO:1489):
GCGGCCCTCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCTTGGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGAC
S
CGCATTCAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACC
Celera SNP ID:                hCV8761382
SNP Position Transcript:      1494
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,3|C,90) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 158,(P,CCC) (R,CGC)



Context              (SEQ ID NO:1490):
GTGGCAGTGGAGGCCGACTGCCGGGACACAGGCACTCCGCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCG
R
GGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCA
Celera SNP ID:                hCV25593905
SNP Position Transcript:      2806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,32|A,0)  total(G,69|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 595,(R,CGG) (R,CGA)



Context              (SEQ ID NO:1491):
TGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAACCTCAGT
Y
CTAACCGCAACCAGAGTGCCAAAGTGATCCGTGCAGACCCACAAGGGTGCCGGCGGAGGCATAGCTCCGAGACTTTCTCCTCAACACCCAGTGCCACCCG
Celera SNP ID:                hCV27860083
SNP Position Transcript:      4256
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1079,(P,CCT) (S,TCT)



Context              (SEQ ID NO:1492):
GGGGCCACCACTCTCATGTCTTGCCTCACCCCAAACCCCCAGTGGAGAGCAGCGGTGGTAAGCTCTTACCTTGCACAGGTGACTACATGAACATGTCACC
M
GTGGGGGACTCCAACACCAGCAGCCCCTCCGACTGCTACTACGGCCCTGAGGACCCCCAGCACAAGCCAGTCCTCTCCTACTACTCATTGCCAAGATCCT
Celera SNP ID:                hCV27860082
SNP Position Transcript:      3232
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 737,(P,CCA) (P,CCC)



Context              (SEQ ID NO:1493):
CCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTAC
R
TGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGAT
Celera SNP ID:                hCV27529422
SNP Position Transcript:      2858
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 613,(M,ATG) (V,GTG)



Context              (SEQ ID NO:1494):
TGGGAGGAGGCGAAGGAGGAGGGAGAACCCCGTGCAACGTTGGGACTTGGCAACCCGCCTCCCCCTGCCCAAGGATATTTAATTTGCCTCGGGAATCGCT
R
CTTCCAGAGGGGAACTCAGGAGGGAAGGCGCGCGCGCGCGCGCGCTCCTGGAGGGGCACCGCAGGGACCCCCGACTGTCGCCTCCCTGTGCCGGACTCCA
Celera SNP ID:                hCV27828572
SNP Position Transcript:      575
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,14|A,2)  total(G,46|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:339, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:339, None



Context              (SEQ ID NO:1495):
GTGGACACCTCGCCAGCTGCCCCTGTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGCCCAGGGCCACCATGGCTGCTGCCT
Y
CTCATCCTCAGCAGCCTCTGCTTCCCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGC
Celera SNP ID:                hCV31240996
SNP Position Transcript:      4125
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1035,(S,TCC) (F,TTC)



Context              (SEQ ID NO:1496):
AGCCCAAGAGCCCGGGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAG
R
TGTCCATCCCAGCTCCAGCCAGCTCCCAGAGAGGAAGAGACTGGCACTGAGGAGTACATGAAGATGGACCTGGGGCCGGGCCGGAGGGCAGCCTGGCAGG
Celera SNP ID:                hCV15851258
SNP Position Transcript:      3787
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,240
)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 922,(R,AGG) (R,AGA)



Context              (SEQ ID NO:1497):
CCCCAACGGTCACTACATTTTGTCTCGGGGTGGCAATGGCCACCGCTGCACCCCAGGAACAGGCTTGGGCACGAGTCCAGCCTTGGCTGGGGATGAAGCA
S
CCAGTGCTGCAGATCTGGATAATCGGTTCCGAAAGAGAACTCACTCGGCAGGCACATCCCCTACCATTACCCACCAGAAGACCCCGTCCCAGTCCTCAGT
Celera SNP ID:                hCV2384389
SNP Position Transcript:      2555
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,252|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 512,(A,GCC) (P,CCC)



Context              (SEQ ID NO:1498):
TTTCTCCTCAACACCCAGTGCCACCCGGGTGGGCAACACAGTGCCCTTTGGAGCGGGGGCAGCAGTAGGGGGCGGTGGCGGTAGCAGCAGCAGCAGCGAG
R
ATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTGGGGGAGCCCCCAAGGAGCCAGCCAAACTGTGTGGGGCTGC
Celera SNP ID:                hCV27488110
SNP Position Transcript:      4430
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1422|A,70) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,120
|A,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1137,(D,GAT) (N,AAT)



Context              (SEQ ID NO:1499):
CACGAGGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCTCCAGAGCCCAAG
R
GCCCGGGGGAATATGTCAATATTGAATTTGGGAGTGATCAGTCTGGCTACTTGTCTGGCCCGGTGGCTTTCCACAGCTCACCTTCTGTCAGGTGTCCATC
Celera SNP ID:                hCV2384391
SNP Position Transcript:      3695
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 892,(S,AGC) (G,GGC)



Context              (SEQ ID NO:1500):
TGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGACCAATAGCC
K
CCTGGCCCGGCCCACGAGGCTGTCCCTGGGGGATCCCAAGGCCAGCACCTTACCTCGGGCCCGAGAGCAGCAGCAGCAGCAGCAGCCCTTGCTGCACCCT
Celera SNP ID:                hCV31240997
SNP Position Transcript:      3582
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 854,(R,CGC) (L,CTC)



Context              (SEQ ID NO:1501):
GTAAGCTATGCTGACATGCGAACAGGCATTGCTGCAGAGGAGGTGAGCCTGCCCAGGGCCACCATGGCTGCTGCCTCCTCATCCTCAGCAGCCTCTGCTT
M
CCCGACTGGGCCTCAAGGGGCAGCAGAGCTGGCTGCCCACTCGTCCCTGCTGGGGGGCCCACAAGGACCTGGGGGCATGAGCGCCTTCACCCGGGTGAAC
Celera SNP ID:                hCV27529212
SNP Position Transcript:      4149
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1043,(S,TCC) (Y,TAC)



Context              (SEQ ID NO:1502):
CGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGGCTCCACCTCGGATTGTCTCTTCCCACGGCGATCTAGTGCTTCGGTGTCTGGTTCCCCCAGCGA
Y
GGCGGTTTCATCTCCTCGGATGAGTATGGCTCCAGTCCCTGCGATTTCCGGAGTTCCTTCCGCAGTGTCACTCCGGATTCCCTGGGCCACACCCCACCAG
Celera SNP ID:                hCV27488111
SNP Position Transcript:      2287
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1414|C,76) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 422,(D,GAT) (D,GAC)



Context              (SEQ ID NO:1503):
GGGCTCAGCAGCTGCGTCCTCCTTCAGCTGCCCCTCCCCGGCGCGGGGGGCGGCGTGGATTTCAGAGTCGGGGTTTCTGCTGCCTCCAGCCCTGTTTGCA
Y
GTGCCGGGCCGCGGCGAGGAGCCTCCGCCCCCCACCCGGTTGTTTTTCGGAGCCTCCCTCTGCTCAGCGTTGGTGGTGGCGGTGGCAGCATGGCGAGCCC
Celera SNP ID:                hCV27828571
SNP Position Transcript:      932
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,35|C,1)  total(T,75|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:339, None



Context              (SEQ ID NO:1504):
GGACTTCAAACAGTGCCCTCAGGAGTGCACCCCTGAACCGCAGCCTCCCCCACCCCCACCCCCTCATCAACCCCTGGGCAGCGGTGAGAGCAGCTCCACC
Y
GCCGCTCAAGTGAGGATTTAAGCGCCTATGCCAGCATCAGTTTCCAGAAGCAGCCAGAGGACCGTCAGTAGCTCAACTGGACATCACAGCAGAATGAAGA
Celera SNP ID:                hCV30315279
SNP Position Transcript:      4679
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1220,(R,CGC) (C,TGC)



Context              (SEQ ID NO:1505):
CACCATGTCCCGCCCAGCCTCGGTGGACGGCAGCCCTGTGAGTCCCAGCACCAACAGAACCCACGCCCACCGGCATCGGGGCAGCGCCCGGCTGCACCCC
S
CGCTCAACCACAGCCGCTCCATCCCCATGCCGGCTTCCCGCTGCTCGCCTTCGGCCACCAGCCCGGTCAGTCTGTCGTCCAGTAGCACCAGTGGCCATGG
Celera SNP ID:                hCV31241001
SNP Position Transcript:      2123
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 368,(P,CCG) (A,GCG)



Context              (SEQ ID NO:1506):
TGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGG
Y
CGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCTGCCCCACAGCAGATCATCAATCCCATCAGACGCCATCCCCAGAGAGTGGACC
Celera SNP ID:                hCV8761380
SNP Position Transcript:      2896
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,92) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 625,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1507):
CTCTCCTACAGCTGCACAACCGTGCTAAGGGCCACCACGACGGAGCTGCGGCCCTCGGGGCGGGAGGTGGTGGGGGCAGCTGCAGCGGCAGCTCCGGCCT
Y
GGTGAGGCTGGGGAGGACTTGAGCTACGGTGACGTGCCCCCAGGACCCGCATTCAAAGAGGTCTGGCAAGTGATCCTGAAGCCCAAGGGCCTGGGTCAGA
Celera SNP ID:                hCV8761386
SNP Position Transcript:      1447
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,93|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 142,(L,CTT) (L,CTC)



Context              (SEQ ID NO:1508):
GCAGTAGGGGGCGGTGGCGGTAGCAGCAGCAGCAGCGAGGATGTGAAACGCCACAGCTCTGCTTCCTTTGAGAATGTGTGGCTGAGGCCTGGGGAGCTTG
R
GGGAGCCCCCAAGGAGCCAGCCAAACTGTGTGGGGCTGCTGGGGGTTTGGAGAATGGTCTTAACTACATAGACCTGGATTTGGTCAAGGACTTCAAACAG
Celera SNP ID:                hCV29135380
SNP Position Transcript:      4491
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 1157,(G,GGG) (E,GAG)



Context              (SEQ ID NO:1509):
CCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGCAGATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGT
S
GGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGCAGCCCCATCTGCCTCGAAAGGTGGACACAGCTGCTCAGAC
Celera SNP ID:                hCV29648394
SNP Position Transcript:      3473
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 818,(G,GGG) (R,CGG)



Context              (SEQ ID NO:1510):
TTAAGCACACCCAGCGCCCCGGGGAGCCGGAGGAGGGTGCCCGGCATCAGCACCTCCGCCTTTCCACTAGCTCTGGTCGCCTTCTCTATGCTGCAACAGC
R
GATGATTCTTCCTCTTCCACCAGCAGCGACAGCCTGGGTGGGGGATACTGCGGGGCTAGGCTGGAGCCCAGCCTTCCACATCCCCACCATCAGGTTCTGC
Celera SNP ID:                hCV8761376
SNP Position Transcript:      3433
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,3990|G,1032) ; no_pop(A,182|G,4) ; no_pop(A
,-|G,-) ; no_pop(A,228|G,12)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:339, 804,(A,GCA) (A,GCG)



Context              (SEQ ID NO:1511):
ACAAAGAACCTGATTGGTATCTACCGCCTTTGCCTGACCAGCAAGACCATCAGCTTCGTGAAGCTGAACTCGGAGGCAGCGGCCGTGGTGCTGCAGCTGA
Y
GAACATCAGGCGCTGTGGCCACTCGGAAAACTTCTTCTTCATCGAGGTGGGCCGTTCTGCCGTGACGGGGCCCGGGGAGTTCTGGATGCAGGTGGATGAC
Celera SNP ID:                hCV8761381
SNP Position Transcript:      1647
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,93|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 209,(M,ATG) (T,ACG)



Context              (SEQ ID NO:1512):
GCCTTCGTGCCCACCCGCTCCTACCCAGAGGAGGGTCTGGAAATGCACCCCTTGGAGCGTCGGGGGGGGCACCACCGCCCAGACAGCTCCACCCTCCACA
S
GGATGATGGCTACATGCCCATGTCCCCAGGGGTGGCCCCAGTGCCCAGTGGCCGAAAGGGCAGTGGAGACTATATGCCCATGAGCCCCAAGAGCGTATCT
Celera SNP ID:                hCV32333209
SNP Position Transcript:      2844
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:339, 608,(R,AGG) (T,ACG)



Context              (SEQ ID NO:1513):
TGGACATCACAGCAGAATGAAGACCTAAATGACCTCAGCAAATCCTCTTCTAACTCATGGGTACCCAGACTCTAAATATTTCATGATTCACAACTAGGAC
Y
TCATATCTTCCTCATCAGTAGATGGTACGATGCATCCATTTCAGTTTGTTTACTTTATCCAATCCTCAGGATTTCATTGACTGAACTGCACGTTCTATAT
Celera SNP ID:                hCV11933923
SNP Position Transcript:      4857
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:339, None



Context              (SEQ ID NO:1514):
AATGCTTAAAACAAGGCTTAAAAGAGTAGAATAGGGTATGATCCTTGTTTTAAGATTGTAATTCAGAAAACATAATATAAGAATCATAGTGCCATAGATG
K
TTCTCAATTGTATAGTTATATTTGCTGATACTATCTCTTGTCATATAAACCTGATGTTGAGCTGAGTTCCTTATAAGAATTAATCTTAATTTTGTATTTT
Celera SNP ID:                hCV31241316
SNP Position Transcript:      5433
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:339, None



Gene Number:                  34
Celera Gene:                  hCG19324 - 84000313596884
Celera Transcript:            hCT10393 - 84000313596885
Public Transcript Accession:
Celera Protein:               hCP37686 - 197000069374431
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(3942629..4000903)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:79):
CCAGGCCTGGCCAGCAGCCCCGAGTGTGCTTGTGGTCGGAGCCACTTCACATGTGCAGTGAGTGCTCTTGGAGAGTGTACCTGCATCCCTGCCCAGTGGC
AGTGTGATGGAGACAATGACTGCGGGGACCACAGCGATGAGGATGGATGTATACTACCTACCTGTTCCCCTCTTGACTTTCACTGTGACAATGGCAAGTG
CATCCGCCGCTCCTGGGTGTGTGACGGGGACAACGACTGTGAGGATGACTCGGATGAGCAGGACTGTCCCCCCCGGGAGTGTGAGGAGGACGAGTTTCCC
TGCCAGAATGGCTACTGCATCCGGAGTCTGTGGCACTGCGATGGTGACAATGACTGTGGCGACAACAGCGATGAGCAGTGTGACATGCGCAAGTGCTCCG
ACAAGGAGTTCCGCTGTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGACACCGACTGCAAAGATGGCTCCGATGAGGAGAACTGTCC
CACCTCCATGTGTACGGCAGAACAGTTCCGCTGTCACTCAGGCCGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGC
GATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCTTGGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAACG
GGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAGAATTGCCGGCCCCGGACGGGTGAGGAGAACTGCAATGTTAACAACGGTGGCTGTGC
CCAGAAGTGCCAGATGGTGCGGGGGGCAGTGCAGTGTACCTGCCACACAGGCTACCGGCTCACAGAGGATGGGCACACGTGCCAAGATGTGAATGAATGT
GCCGAGGAGGGGTATTGCAGCCAGGGCTGCACCAACAGCGAAGGGGCTTTCCAATGCTGGTGTGAAACAGGCTATGAACTACGGCCCGACCGGCGCAGCT
GCAAGGCTCTGGGGCCAGAGCCTGTGCTGCTGTTCGCCAATCGCATCGACATCCGGCAGGTGCTGCCACACCGCTCTGAGTACACACTGCTGCTTAACAA
CCTGGAGAATGCCATTGCCCTTGATTTCCACCACCGCCGCGAGCTTGTCTTCTGGTCAGATGTCACCCTGGACCGGATCCTCCGTGCCAACCTCAACGGC
AGCAACGTGGAGGAGGTTGTGTCTACTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCT
CGAGGATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGG
TACCATTTACTGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCTGG
CCCAATGGCCTCACCATCGACTATGCCGGGCGCCGTATGTACTGGGTGGATGCTAAGCACCATGTCATCGAGAGGGCCAATCTGGATGGGAGTCACCGTA
AGGCTGTCATTAGCCAGGGCCTCCCGCATCCCTTCGCCATCACAGTGTTTGAAGACAGCCTGTACTGGACAGACTGGCACACCAAGAGCATCAATAGCGC
TAACAAATTTACGGGGAAGAACCAGGAAATCATTCGCAACAAACTCCACTTCCCTATGGACATCCACACCTTGCACCCCCAGCGCCAACCTGCAGGGAAA
AACCGCTGTGGGGACAACAACGGAGGCTGCACGCACCTGTGTCTGCCCAGTGGCCAGAACTACACCTGTGCCTGCCCCACTGGCTTCCGCAAGATCAGCA
GCCACGCCTGTGCCCAGAGTCTTGACAAGTTCCTGCTTTTTGCCCGAAGGATGGACATCCGTCGAATCAGCTTTGACACAGAGGACCTGTCTGATGATGT
CATCCCACTGGCTGACGTGCGCAGTGCTGTGGCCCTTGACTGGGACTCCCGGGATGACCACGTGTACTGGACAGATGTCAGCACTGATACCATCAGCAGG
GCCAAGTGGGATGGAACAGGACAGGAGGTGGTAGTGGATACCAGTTTGGAGAGCCCAGCTGGCCTGGCCATTGATTGGGTCACCAACAAACTGTACTGGA
CAGATGCAGGTACAGACCGGATTGAAGTAGCCAACACAGATGGCAGCATGAGAACAGTACTCATCTGGGAGAACCTTGATCGTCCTCGGGACATCGTGGT
GGAACCCATGGGCGGGTACATGTATTGGACTGACTGGGGTGCGAGCCCCAAGATTGAACGAGCTGGCATGGATGCCTCAGGCCGCCAAGTCATTATCTCT
TCTAATCTGACCTGGCCTAATGGGTTAGCTATTGATTATGGGTCCCAGCGTCTATACTGGGCTGACGCCGGCATGAAGACAATTGAATTTGCTGGACTGG
ATGGCAGTAAGAGGAAGGTGCTGATTGGAAGCCAGCTCCCCCACCCATTTGGGCTGACCCTCTATGGAGAGCGCATCTATTGGACTGACTGGCAGACCAA
GAGCATACAGAGCGCTGACCGGCTGACAGGGCTGGACCGGGAGACTCTGCAGGAGAACCTGGAAAACCTAATGGACATCCATGTCTTCCACCGCCGCCGG
CCCCCAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCAAATCCAAGCGGATTCAGCTGTACCTGCCCCACAG
GCATCAACCTGCTGTCTGATGGCAAGACCTGCTCACCAGGCATGAACAGTTTCCTCATCTTCGCCAGGAGGATAGACATTCGCATGGTCTCCCTGGACAT
CCCTTATTTTGCTGATGTGGTGGTACCAATCAACATTACCATGAAGAACACCATTGCCGTTGGAGTAGACCCCCAGGAAGGAAAGGTGTACTGGTCTGAC
AGCACACTGCACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACATCATCACCACAGGGCTACAGACCACAGATGGGCTCGCGGTTGATG
CCATTGGCCGGAAAGTATACTGGACAGACACGGGAACAAACCGGATTGAAGTGGGCAACCTGGACGGGTCCATGCGGAAAGTGTTGGTGTGGCAGAACCT
TGACAGTCCCCGGGCCATCGTACTGTACCATGAGATGGGGTTTATGTACTGGACAGACTGGGGGGAGAATGCCAAGTTAGAGCGGTCCGGAATGGATGGC
TCAGACCGCGCGGTGCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCG
AGCGAATTGAGGCTGCTGACCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTA
CTGGACTGACTGGCAGACTCGGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATG
CAGGCTGTGGACCGGGCACAGCCACTAGGTTTTAACAAGTGCGGCTCGAGAAATGGCGGCTGCTCCCACCTCTGCTTGCCTCGGCCTTCTGGCTTCTCCT
GTGCCTGCCCCACTGGCATCCAGCTGAAGGGAGATGGGAAGACCTGTGATCCCTCTCCTGAGACCTACCTGCTCTTCTCCAGCCGTGGCTCCATCCGGCG
TATCTCACTGGACACCAGTGACCACACCGATGTGCATGTCCCTGTTCCTGAGCTCAACAATGTCATCTCCCTGGACTATGACAGCGTGGATGGAAAGGTC
TATTACACAGATGTGTTCCTGGATGTTATCAGGCGAGCAGACCTGAACGGCAGCAACATGGAGACAGTGATCGGGCGAGGGCTGAAGACCACTGACGGGC
TGGCAGTGGACTGGGTGGCCAGGAACCTGTACTGGACAGACACAGGTCGAAATACCATTGAGGCGTCCAGGCTGGATGGTTCCTGCCGCAAAGTACTGAT
CAACAATAGCCTGGATGAGCCCCGGGCCATTGCTGTTTTCCCCAGGAAGGGGTACCTCTTCTGGACAGACTGGGGCCACATTGCCAAGATCGAACGGGCA
AACTTGGATGGTTCTGAGCGGAAGGTCCTCATCAACACAGACCTGGGTTGGCCCAATGGCCTTACCCTGGACTATGATACCCGCAGGATCTACTGGGTGG
ATGCGCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTCGGCCATGTGTCCCACCCCTTTGCCCTCACACAGCAAGA
CAGGTGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGGCCGGAACAAGGAGACAGTGCTGGCAAATGTGGAAGGA
CTCATGGATATCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCT
CGGACTTCGTATGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGA
AAAGAGCCCAGTGCTACCCAACACACCACCTACCACCTTGTATTCTTCAACCACCCGGACCCGCACGTCTCTGGAGGAGGTGGAAGGAAGATGCTCTGAA
AGGGATGCCAGGCTGGGCCTCTGTGCACGTTCCAATGACGCTGTTCCTGCTGCTCCAGGGGAAGGACTTCATATCAGCTACGCCATTGGTGGACTCCTCA
GTATTCTGCTGATTTTGGTGGTGATTGCAGCTTTGATGCTGTACAGACACAAAAAATCCAAGTTCACTGATCCTGGAATGGGGAACCTCACCTACAGCAA
CCCCTCCTACCGAACATCCACACAGGAAGTGAAGATTGAAGCAATCCCCAAACCAGCCATGTACAACCAGCTGTGCTATAAGAAAGAGGGAGGGCCTGAC
CATAACTACACCAAGGAGAAGATCAAGATCGTAGAGGGAATCTGCCTCCTGTCTGGGGATGATGCTGAGTGGGATGACCTCAAGCAACTGCGAAGCTCAC
GGGGGGGCCTCCTCCGGGATCATGTATGCATGAAGACAGACACGGTGTCCATCCAGGCCAGCTCTGGCTCCCTGGATGACACAGAGACGGAGCAGCTGTT
ACAGGAAGAGCAGTCTGAGTGTAGCAGCGTCCATACTGCAGCCACTCCAGAAAGACGAGGCTCTCTGCCAGACACGGGCTGGAAACATGAACGCAAGCTC
TCCTCAGAGAGCCAGGTCTAAATGCCCACATTCTCTTCCCTGCCTGCCTGTTCCTTCTCCTTTATGGACGTCTAGTCCTTGTGCTCGCTTACACCGCAGG
CCCCGCTTCTGTGTGCTTGTCCTCCTCCTCCTCCCACCCCATAACTGTTCCTAAGCCTTCACCGGAGCTGTTTACCACGTGAGTCCATAACTACCTGTGC
ACAAGAAATGATGGCACATCACGAGAATTTAGACCTGGATTTTACCATGAACCTCACATCTTGTACTCCATCCTGGGCCCCCTGAAACTGCTTATTCGTG
ATTCCTCACCAGCGTAGAGCTCCACCTCCCCTTTCCCCAGTACCCTCAGTGCCTGCTTCTCAGTGCTGATGCAGCTGATGACCCAGGACTGCGCTCTGCC
CCATCACAGCCAGCATGACTGCTTCTCTGAGAGAACTTGCCCATCAGGGGCTGGGACATGGGGGTGTGGGTAAAGACAGGGATGAAGGATAGAGGCTGAG
AGAAGAAGGAAGAATCAGCCCAGCAGGTATGGGCATCTGGGAAACCTCCAGCCTCAAGTGTGTTGGTAACATGAAAAAGCTCTGGGGGGTAGTTGGATCT
GGGTGTCTGGTCCATTGCTGGCAGTGGACATTATTCTTGCCCTAAGAGACACTGCCTTTTCAGCAGCAGATACTGGTGAGATGGGGGTGGCTCAGGCTGT
TCTTCCTCCTCCTAGAATGTCTGGAGCTGTTTCTACATTCAGATAACTGGGTCCCCTATCACAAGGCTACTGGCTAATAGGAATTCCCTCCTGGTGCCAC
CACTGGCCAGTACCTTTCCTAAGTCTTTGCTCAAATTAACCAGGTTGTGAGCCAGTGGCTTGAGTGAATGTTAGGCCTTGGGGGCTGAGTCTCTGAAAAG
TCTAAGAAGCTCTGCCTAGACCAAATATGGTATACCTCCTGACCCCTCTCTCCCTCATGTCCTGGGATTCTGGGGAAGAGACCTAGAAACAAGCTTTCAA
AGAAAAACCAGAAGTTGTCATAAATGGTCAGAAAGAACGATCAGGTTGGAGACTTGGGAAACCCAGGGCCTAAAGAGAAGTATCCATGAGGGTCAAACTT
CCTGTTGAACTTCCTATGTTCTTTCTCAAGTGCTCAGGGATCTAAGTTAGTGGACAGCAAGCCTGTGGCTACGGGGTGGTGATGTTCCTCTTCCAGCTGT
CCCCTCAGCTAAGGGGCTTAGTTTCCATGTGGGATGCCATCACTTGGTTCATGCTCATTCACACAAAGGGCACGTGTCTCAGCCTGGTATCAGGGAAATT
GAGACTTATTTTTGCCCTAAAACGTCTCCCTAGCTGTTCTTCGTGGGGTTTTTTTGTTTGTTTTTTTGCCTAATTTGCTTTTTCTGACCAAGCCTTGTGG
CACCAGCAATCTCCAAAGTCCTGTGGTGGGAGGGCTGAATAAATAAAAATACAAAGAGGTGGGTAAGGAGTAGGAAGGTAGAGAGCACCACTGATGAGGC
CCTCCTAGCCCATGGCAGACCCAGACCTCTTCTCCCCCAGGAATTAGAAGTGGCAGGAGAGAACAACAGGGGCTGGGAATGGAGGGGAGAATTTCTAGGG
GAAGTTTCCTGAGTTGAAACTTCTCCTGTGGTTACTGGTATTGAGAAATCAGCTACCAAAGTGAAAAAGGACAAGATCAATTCTTTTCTAGTCAGTTCTA
AGACTGCTAGAGAGAGATACCAGGCCCTTAGCCTTGCTCTCAGTAGCGTCAGCCCCAGTTCTGAGCCTCCCCACATTACACTTAACAAGCAGTAAAGGAG
TGAGCACTTTGGGTCCTTAGACTCATGTCTGGGGAGGAAGAGCAAGTAGAAAAGTGGCATTTTCTTGATTGGAAAGGGGGAAGGATCTTATTGCACTTGG
GCTGTTCAGAATGTAGAAAGGACATATTTGAGGAAGTATCTATTTGAGCACTGATTTACTCTGTAAAAAGCAAAATCTCTCTGTCCTAAACTAATGGAAG
CGATTCTCCCATGCTCATGTGTAATGGTTTTAACGTTACTCACTGGAGAGATTGGACTTTCTGGAGTTATTTAACCACTATGTTCAGTATTTTAGGACTT
TATGATAATTTAATATAAATTTAGCTTTTCTTAATCACCTTGCCTGGCTTGGAGTCATGACTAATCCTGCACCTGCTCTGTCTGGCAGACCCATGCTGTG
GAAAACCTGCTTACAGACATCACTTTTAAGTCCTTTGTGGATGTGGGCACAGTGAAGAGCAATAAAGAGTGTGAGGTTCCTGCTGGAGTTTTCAGCTCAT
CTGGAGAAGACAGGTCGAGGCCAGAGTTCCTTGACTGATGAAACCTTTATTTCCTCTGGAAGAGGAATGGTAGATGGGTTTCCTCTTGAGTGCTGACTCT
GACTGGTTGGTAGTGGCTGCCTGAGGGCCTATTCGCACCCAATGGGAAGAATGTCATATGGCTAGTGACATCTCTTCTGTGCACTGGAAGGAAATGTCAT
GGCA


Protein Sequence     (SEQ ID NO:340):
MRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQ
RKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWCETGYELR
PDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYW
TDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANL
DGSHRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNYTCACPTG
FRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVT
NKLYWTDAGTDRIEVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAIDYGSQRLYWADAGMKTI
EFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFS
CTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAVGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTD
GLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLW
ADAHTERIEAADLNGANRHTLVSPVQHPYGLTLLDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPR
PSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGL
KTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTR
RIYWVDAHLDRIESADLNGKLRQVLVGHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVNNGGCTHL
CFARASDFVCACPDEPDSQPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLYSSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYA
IGGLLSILLILVVIAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDDAEWDDLK
QLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV*



SNP Information


Context              (SEQ ID NO:1515):
AAGTTCACTGATCCTGGAATGGGGAACCTCACCTACAGCAACCCCTCCTACCGAACATCCACACAGGAAGTGAAGATTGAAGCAATCCCCAAACCAGCCA
W
GTACAACCAGCTGTGCTATAAGAAAGAGGGAGGGCCTGACCATAACTACACCAAGGAGAAGATCAAGATCGTAGAGGGAATCTGCCTCCTGTCTGGGGAT
Celera SNP ID:                hCV25965950
SNP Position Transcript:      5060
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 1559,(M,ATG) (K,AAG)



Context              (SEQ ID NO:1516):
TACTACCTACCTGTTCCCCTCTTGACTTTCACTGTGACAATGGCAAGTGCATCCGCCGCTCCTGGGTGTGTGACGGGGACAACGACTGTGAGGATGACTC
R
GATGAGCAGGACTGTCCCCCCCGGGAGTGTGAGGAGGACGAGTTTCCCTGCCAGAATGGCTACTGCATCCGGAGTCTGTGGCACTGCGATGGTGACAATG
Celera SNP ID:                hCV25957494
SNP Position Transcript:      252
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1517):
GGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTTCGTATGTGCCTGTCCTGACGAACCTGATAGCC
R
GCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCCCAGTGCTACCCAACACACCACCTACCACCTTG
Celera SNP ID:                hCV1684225
SNP Position Transcript:      4640
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,6) ; no_pop(A,-|G,-) ; no_pop(A,210|G,
30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 1419,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:1518):
CGGGCCATCGTACTGTACCATGAGATGGGGTTTATGTACTGGACAGACTGGGGGGAGAATGCCAAGTTAGAGCGGTCCGGAATGGATGGCTCAGACCGCG
Y
GGTGCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCGAGCGAATTGAG
Celera SNP ID:                hCV16192429
SNP Position Transcript:      3311
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|C,35)  african american(T,0|C,34)  total(T,5|C,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 976,(A,GCG) (V,GTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1824|C,1168) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 976,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1519):
CATCTTCGCCAGGAGGATAGACATTCGCATGGTCTCCCTGGACATCCCTTATTTTGCTGATGTGGTGGTACCAATCAACATTACCATGAAGAACACCATT
R
CCGTTGGAGTAGACCCCCAGGAAGGAAAGGTGTACTGGTCTGACAGCACACTGCACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACAT
Celera SNP ID:                hCV25957240
SNP Position Transcript:      2956
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,9)  african american(G,6|A,28)  total(G,35|A,37)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 858,(A,GCC) (T,ACC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 858,(A,GCC) (T,ACC)



Context              (SEQ ID NO:1520):
CTGAAGACCACTGACGGGCTGGCAGTGGACTGGGTGGCCAGGAACCTGTACTGGACAGACACAGGTCGAAATACCATTGAGGCGTCCAGGCTGGATGGTT
Y
CTGCCGCAAAGTACTGATCAACAATAGCCTGGATGAGCCCCGGGCCATTGCTGTTTTCCCCAGGAAGGGGTACCTCTTCTGGACAGACTGGGGCCACATT
Celera SNP ID:                hCV25969845
SNP Position Transcript:      4082
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 1233,(S,TCC) (F,TTC)



Context              (SEQ ID NO:1521):
CCTAATGGACATCCATGTCTTCCACCGCCGCCGGCCCCCAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCA
R
ATCCAAGCGGATTCAGCTGTACCTGCCCCACAGGCATCAACCTGCTGTCTGATGGCAAGACCTGCTCACCAGGCATGAACAGTTTCCTCATCTTCGCCAG
Celera SNP ID:                hCV25967228
SNP Position Transcript:      2767
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,0|A,38)  total(G,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 795,(N,AAT) (D,GAT)



Context              (SEQ ID NO:1522):
CTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATGCAGGCTGTGGACCGGGCACAGCCACTAGGTTTTAACAAGTGCGGCTC
R
AGAAATGGCGGCTGCTCCCACCTCTGCTTGCCTCGGCCTTCTGGCTTCTCCTGTGCCTGCCCCACTGGCATCCAGCTGAAGGGAGATGGGAAGACCTGTG
Celera SNP ID:                hCV25973399
SNP Position Transcript:      3648
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,3)  total(G,71|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1088,(S,TCG) (S,TCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1088,(S,TCG) (S,TCA)



Context              (SEQ ID NO:1523):
ATATCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTT
Y
GTATGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCC
Celera SNP ID:                hCV1684226
SNP Position Transcript:      4608
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1172|T,1828) ; no_pop(C,14|T,2) ; no_pop(C,-|T,-) ; no_pop(C,
1320|T,696)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1408,(F,TTC) (F,TTT)



Context              (SEQ ID NO:1524):
TACCCTGGACTATGATACCCGCAGGATCTACTGGGTGGATGCGCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTC
R
GCCATGTGTCCCACCCCTTTGCCCTCACACAGCAAGACAGGTGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGG
Celera SNP ID:                hCV1684227
SNP Position Transcript:      4363
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,780|A,2188) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,1
46|A,86)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 1327,(G,GGC) (S,AGC)



Context              (SEQ ID NO:1525):
CGATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCTTGGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAAC
R
GGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAGAATTGCCGGCCCCGGACGGGTGAGGAGAACTGCAATGTTAACAACGGTGGCTGTGC
Celera SNP ID:                hCV25958948
SNP Position Transcript:      700
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,30|A,2)  total(G,66|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 106,(G,GGG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,2)  total(G,74|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 106,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1526):
CCAGGCCTGGCCAGCAGCCCCGAGTGTGCTTGTGGTCGGAGCCACTTCACATGTGCAGTGAGTGCTCTTGGAGAGTGTAC
S
TGCATCCCTGCCCAGTGGCAGTGTGATGGAGACAATGACTGCGGGGACCACAGCGATGAGGATGGATGTATACTACCTACCTGTTCCCCTCTTGACTTTC
Celera SNP ID:                hCV25961806
SNP Position Transcript:      81
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,38)  african american(G,8|C,28)  total(G,8|C,66)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1527):
CTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAGGATTGAGGTGGCCAATCTGGA
Y
GGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTACTGGACAGACTGGGGCA
Celera SNP ID:                hCV30710979
SNP Position Transcript:      1326
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 314,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1528):
CCTCGAGGATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGA
R
GGTACCATTTACTGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCT
Celera SNP ID:                hCV25956906
SNP Position Transcript:      1398
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,0)  african american(G,24|A,8)  total(G,54|A,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 338,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1529):
ACAACCTGGAGAATGCCATTGCCCTTGATTTCCACCACCGCCGCGAGCTTGTCTTCTGGTCAGATGTCACCCTGGACCGGATCCTCCGTGCCAACCTCAA
Y
GGCAGCAACGTGGAGGAGGTTGTGTCTACTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCA
Celera SNP ID:                hCV25960070
SNP Position Transcript:      1197
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,33)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 271,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1530):
TCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTTCGT
R
TGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCCCAG
Celera SNP ID:                hDV70919848
SNP Position Transcript:      4611
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1409,(V,GTA) (V,GTG)



Context              (SEQ ID NO:1531):
GCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCGAGCGAATTGAGGCT
R
CTGACCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTACTGGACTGACTGGCA
Celera SNP ID:                hCV16192430
SNP Position Transcript:      3415
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 1011,(A,GCT) (T,ACT)



Context              (SEQ ID NO:1532):
CAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAGGATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAA
R
GTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTACTGGACAGACTGGGGCAACACCCCCCGTATTG
Celera SNP ID:                hCV25956352
SNP Position Transcript:      1341
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,0)  african american(G,33|A,3)  total(G,67|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 319,(K,AAG) (K,AAA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 319,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1533):
CGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCT
Y
GGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAACGGGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAG
Celera SNP ID:                hCV25958820
SNP Position Transcript:      644
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,2)  african american(T,27|C,9)  total(T,65|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 87,(L,TTG) (S,TCG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 87,(L,TTG) (S,TCG)



Context              (SEQ ID NO:1534):
CACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACATCATCACCACAGGGCTACAGACCACAGATGGGCTCGCGGTTGATGCCATTGGCC
R
GAAAGTATACTGGACAGACACGGGAACAAACCGGATTGAAGTGGGCAACCTGGACGGGTCCATGCGGAAAGTGTTGGTGTGGCAGAACCTTGACAGTCCC
Celera SNP ID:                hCV25971972
SNP Position Transcript:      3110
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,1)  total(G,75|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 909,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1535):
GACCAAGAGCATACAGAGCGCTGACCGGCTGACAGGGCTGGACCGGGAGACTCTGCAGGAGAACCTGGAAAACCTAATGGACATCCATGTCTTCCACCGC
Y
GCCGGCCCCCAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCAAATCCAAGCGGATTCAGCTGTACCTGCCC
Celera SNP ID:                hCV25966524
SNP Position Transcript:      2695
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:340, 771,(R,CGC) (C,TGC)



Context              (SEQ ID NO:1536):
AGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTA
Y
TGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCTGGCCCAATGGCC
Celera SNP ID:                hCV25966115
SNP Position Transcript:      1410
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,33)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 342,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1537):
GTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGACACCGACTGCAAAGATGGCTCCGATGAGGAGAACTGTCCCACCTCCATGTGTAC
R
GCAGAACAGTTCCGCTGTCACTCAGGCCGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATGAAGAGAACTGTG
Celera SNP ID:                hCV7472053
SNP Position Transcript:      516
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,2)  african american(G,27|A,9)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 44,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 44,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1538):
ATACCCGCAGGATCTACTGGGTGGATGCGCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTCGGCCATGTGTCCCA
Y
CCCTTTGCCCTCACACAGCAAGACAGGTGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGGCCGGAACAAGGAGA
Celera SNP ID:                hCV25967464
SNP Position Transcript:      4377
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,1|C,37)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1331,(H,CAC) (H,CAT)



Context              (SEQ ID NO:1539):
CCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTACTGGACTGACTGGCAGACT
M
GGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATGCAGGCTGTGGACCGGGCACA
Celera SNP ID:                hCV25963103
SNP Position Transcript:      3520
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|A,1)  african american(C,38|A,0)  total(C,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:340, 1046,(R,CGG) (R,AGG)



Context              (SEQ ID NO:1540):
TGTGGGTAAAGACAGGGATGAAGGATAGAGGCTGAGAGAAGAAGGAAGAATCAGCCCAGCAGGTATGGGCATCTGGGAAACCTCCAGCCTCAAGTGTGTT
R
GTAACATGAAAAAGCTCTGGGGGGTAGTTGGATCTGGGTGTCTGGTCCATTGCTGGCAGTGGACATTATTCTTGCCCTAAGAGACACTGCCTTTTCAGCA
Celera SNP ID:                hCV28966533
SNP Position Transcript:      5965
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1541):
ATGAAGGATAGAGGCTGAGAGAAGAAGGAAGAATCAGCCCAGCAGGTATGGGCATCTGGGAAACCTCCAGCCTCAAGTGTGTTGGTAACATGAAAAAGCT
Y
TGGGGGGTAGTTGGATCTGGGTGTCTGGTCCATTGCTGGCAGTGGACATTATTCTTGCCCTAAGAGACACTGCCTTTTCAGCAGCAGATACTGGTGAGAT
Celera SNP ID:                hCV27507385
SNP Position Transcript:      5982
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1542):
CCTGACCCCTCTCTCCCTCATGTCCTGGGATTCTGGGGAAGAGACCTAGAAACAAGCTTTCAAAGAAAAACCAGAAGTTGTCATAAATGGTCAGAAAGAA
Y
GATCAGGTTGGAGACTTGGGAAACCCAGGGCCTAAAGAGAAGTATCCATGAGGGTCAAACTTCCTGTTGAACTTCCTATGTTCTTTCTCAAGTGCTCAGG
Celera SNP ID:                hCV1684221
SNP Position Transcript:      6438
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1|C,11)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1543):
TTCCTATGTTCTTTCTCAAGTGCTCAGGGATCTAAGTTAGTGGACAGCAAGCCTGTGGCTACGGGGTGGTGATGTTCCTCTTCCAGCTGTCCCCTCAGCT
R
AGGGGCTTAGTTTCCATGTGGGATGCCATCACTTGGTTCATGCTCATTCACACAAAGGGCACGTGTCTCAGCCTGGTATCAGGGAAATTGAGACTTATTT
Celera SNP ID:                hCV7472066
SNP Position Transcript:      6611
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1544):
CCTTAGCCTTGCTCTCAGTAGCGTCAGCCCCAGTTCTGAGCCTCCCCACATTACACTTAACAAGCAGTAAAGGAGTGAGCACTTTGGGTCCTTAGACTCA
Y
GTCTGGGGAGGAAGAGCAAGTAGAAAAGTGGCATTTTCTTGATTGGAAAGGGGGAAGGATCTTATTGCACTTGGGCTGTTCAGAATGTAGAAAGGACATA
Celera SNP ID:                hCV28966532
SNP Position Transcript:      7226
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1545):
CCACATTACACTTAACAAGCAGTAAAGGAGTGAGCACTTTGGGTCCTTAGACTCATGTCTGGGGAGGAAGAGCAAGTAGAAAAGTGGCATTTTCTTGATT
R
GAAAGGGGGAAGGATCTTATTGCACTTGGGCTGTTCAGAATGTAGAAAGGACATATTTGAGGAAGTATCTATTTGAGCACTGATTTACTCTGTAAAAAGC
Celera SNP ID:                hCV16192441
SNP Position Transcript:      7271
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1463|A,33) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1546):
AGGACATATTTGAGGAAGTATCTATTTGAGCACTGATTTACTCTGTAAAAAGCAAAATCTCTCTGTCCTAAACTAATGGAAGCGATTCTCCCATGCTCAT
K
TGTAATGGTTTTAACGTTACTCACTGGAGAGATTGGACTTTCTGGAGTTATTTAACCACTATGTTCAGTATTTTAGGACTTTATGATAATTTAATATAAA
Celera SNP ID:                hCV11381140
SNP Position Transcript:      7419
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,90|T,2) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Context              (SEQ ID NO:1547):
TGGTTTTAACGTTACTCACTGGAGAGATTGGACTTTCTGGAGTTATTTAACCACTATGTTCAGTATTTTAGGACTTTATGATAATTTAATATAAATTTAG
S
TTTTCTTAATCACCTTGCCTGGCTTGGAGTCATGACTAATCCTGCACCTGCTCTGTCTGGCAGACCCATGCTGTGGAAAACCTGCTTACAGACATCACTT
Celera SNP ID:                hCV28966531
SNP Position Transcript:      7525
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:340, None



Gene Number:                  34
Celera Gene:                  hCG19324 - 84000313596884
Celera Transcript:            hCT2269663 - 84000313596924
Public Transcript Accession:
Celera Protein:               hCP1861298 - 197000069374432
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(3942629..4000903)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:80):
GCCTGGCCAGCAGCCCCGAGTGTGCTTGTGGTCGGAGCCACTTCACATGTGCAGTGAGTGCTCTTGGAGAGTGTACCTGCATCCCTGCCCAGTGGCAGTG
TGATGGAGACAATGACTGCGGGGACCACAGCGATGAGGATGGATGTATACTACCTACCTGTTCCCCTCTTGACTTTCACTGTGACAATGGCAAGTGCATC
CGCCGCTCCTGGGTGTGTGACGGGGACAACGACTGTGAGGATGACTCGGATGAGCAGGACTGTCCCCCCCGGGAGTGTGAGGAGGACGAGTTTCCCTGCC
AGAATGGCTACTGCATCCGGAGTCTGTGGCACTGCGATGGTGACAATGACTGTGGCGACAACAGCGATGAGCAGTGTGACATGCGCAAGTGCTCCGACAA
GGAGTTCCGCTGTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGACACCGACTGCAAAGATGGCTCCGATGAGGAGAACTGTCCCACC
TCCATGTGTACGGCAGAACAGTTCCGCTGTCACTCAGGCCGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATG
AAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCTTGGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAACGGGGT
CAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAGAATTGCCGGCCCCGGACGGGTGAGGAGAACTGCAATGTTAACAACGGTGGCTGTGCCCAG
AAGTGCCAGATGGTGCGGGGGGCAGTGCAGTGTACCTGCCACACAGGCTACCGGCTCACAGAGGATGGGCACACGTGCCAAGATGTGAATGAATGTGCCG
AGGAGGGGTATTGCAGCCAGGGCTGCACCAACAGCGAAGGGGCTTTCCAATGCTGGTGTGAAACAGGCTATGAACTACGGCCCGACCGGCGCAGCTGCAA
GGCTCTGGGGCCAGAGCCTGTGCTGCTGTTCGCCAATCGCATCGACATCCGGCAGGTGCTGCCACACCGCTCTGAGTACACACTGCTGCTTAACAACCTG
GAGAATGCCATTGCCCTTGATTTCCACCACCGCCGCGAGCTTGTCTTCTGGTCAGATGTCACCCTGGACCGGATCCTCCGTGCCAACCTCAACGGCAGCA
ACGTGGAGGAGGTTGTGTCTACTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAG
GATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACC
ATTTACTGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCTGGCCCA
ATGGCCTCACCATCGACTATGCCGGGCGCCGTATGTACTGGGTGGATGCTAAGCACCATGTCATCGAGAGGGCCAATCTGGATGGGAGTCACCGTAAGGC
TGTCATTAGCCAGGGCCTCCCGCATCCCTTCGCCATCACAGTGTTTGAAGACAGCCTGTACTGGACAGACTGGCACACCAAGAGCATCAATAGCGCTAAC
AAATTTACGGGGAAGAACCAGGAAATCATTCGCAACAAACTCCACTTCCCTATGGACATCCACACCTTGCACCCCCAGCGCCAACCTGCAGGGAAAAACC
GCTGTGGGGACAACAACGGAGGCTGCACGCACCTGTGTCTGCCCAGTGGCCAGAACTACACCTGTGCCTGCCCCACTGGCTTCCGCAAGATCAGCAGCCA
CGCCTGTGCCCAGAGTCTTGACAAGTTCCTGCTTTTTGCCCGAAGGATGGACATCCGTCGAATCAGCTTTGACACAGAGGACCTGTCTGATGATGTCATC
CCACTGGCTGACGTGCGCAGTGCTGTGGCCCTTGACTGGGACTCCCGGGATGACCACGTGTACTGGACAGATGTCAGCACTGATACCATCAGCAGGGCCA
AGTGGGATGGAACAGGACAGGAGGTGGTAGTGGATACCAGTTTGGAGAGCCCAGCTGGCCTGGCCATTGATTGGGTCACCAACAAACTGTACTGGACAGA
TGCAGGTACAGACCGGATTGAAGTAGCCAACACAGATGGCAGCATGAGAACAGTACTCATCTGGGAGAACCTTGATCGTCCTCGGGACATCGTGGTGGAA
CCCATGGGCGGGTACATGTATTGGACTGACTGGGGTGCGAGCCCCAAGATTGAACGAGCTGGCATGGATGCCTCAGGCCGCCAAGTCATTATCTCTTCTA
ATCTGACCTGGCCTAATGGGTTAGCTATTGATTATGGGTCCCAGCGTCTATACTGGGCTGACGCCGGCATGAAGACAATTGAATTTGCTGGACTGGATGG
CAGTAAGAGGAAGGTGCTGATTGGAAGCCAGCTCCCCCACCCATTTGGGCTGACCCTCTATGGAGAGCGCATCTATTGGACTGACTGGCAGACCAAGAGC
ATACAGAGCGCTGACCGGCTGACAGGGCTGGACCGGGAGACTCTGCAGGAGAACCTGGAAAACCTAATGGACATCCATGTCTTCCACCGCCGCCGGCCCC
CAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCAAATCCAAGCGGATTCAGCTGTACCTGCCCCACAGGCAT
CAACCTGCTGTCTGATGGCAAGACCTGCTCACCAGGCATGAACAGTTTCCTCATCTTCGCCAGGAGGATAGACATTCGCATGGTCTCCCTGGACATCCCT
TATTTTGCTGATGTGGTGGTACCAATCAACATTACCATGAAGAACACCATTGCCGTTGGAGTAGACCCCCAGGAAGGAAAGGTGTACTGGTCTGACAGCA
CACTGCACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACATCATCACCACAGGGCTACAGACCACAGATGGGCTCGCGGTTGATGCCAT
TGGCCGGAAAGTATACTGGACAGACACGGGAACAAACCGGATTGAAGTGGGCAACCTGGACGGGTCCATGCGGAAAGTGTTGGTGTGGCAGAACCTTGAC
AGTCCCCGGGCCATCGTACTGTACCATGAGATGGGGTTTATGTACTGGACAGACTGGGGGGAGAATGCCAAGTTAGAGCGGTCCGGAATGGATGGCTCAG
ACCGCGCGGTGCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCGAGCG
AATTGAGGCTGCTGACCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTACTGG
ACTGACTGGCAGACTCGGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATGCAGG
CTGTGGACCGGGCACAGCCACTAGGTTTTAACAAGTGCGGCTCGAGAAATGGCGGCTGCTCCCACCTCTGCTTGCCTCGGCCTTCTGGCTTCTCCTGTGC
CTGCCCCACTGGCATCCAGCTGAAGGGAGATGGGAAGACCTGTGATCCCTCTCCTGAGACCTACCTGCTCTTCTCCAGCCGTGGCTCCATCCGGCGTATC
TCACTGGACACCAGTGACCACACCGATGTGCATGTCCCTGTTCCTGAGCTCAACAATGTCATCTCCCTGGACTATGACAGCGTGGATGGAAAGGTCTATT
ACACAGATGTGTTCCTGGATGTTATCAGGCGAGCAGACCTGAACGGCAGCAACATGGAGACAGTGATCGGGCGAGGGCTGAAGACCACTGACGGGCTGGC
AGTGGACTGGGTGGCCAGGAACCTGTACTGGACAGACACAGGTCGAAATACCATTGAGGCGTCCAGGCTGGATGGTTCCTGCCGCAAAGTACTGATCAAC
AATAGCCTGGATGAGCCCCGGGCCATTGCTGTTTTCCCCAGGAAGGGGTACCTCTTCTGGACAGACTGGGGCCACATTGCCAAGATCGAACGGGCAAACT
TGGATGGTTCTGAGCGGAAGGTCCTCATCAACACAGACCTGGGTTGGCCCAATGGCCTTACCCTGGACTATGATACCCGCAGGATCTACTGGGTGGATGC
GCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTCGGCCATGTGTCCCACCCCTTTGCCCTCACACAGCAAGACAGG
TGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGGCCGGAACAAGGAGACAGTGCTGGCAAATGTGGAAGGACTCA
TGGATATCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGA
CTTCGTATGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAG
AGCCCAGTGCTACCCAACACACCACCTACCACCTTGTATTCTTCAACCACCCGGACCCGCACGTCTCTGGAGGAGGTGGAAGGAAGATGCTCTGAAAGGG
ATGCCAGGCTGGGCCTCTGTGCACGTTCCAATGACGCTGTTCCTGCTGCTCCAGGGGAAGGACTTCATATCAGCTACGCCATTGGTGGACTCCTCAGTAT
TCTGCTGATTTTGGTGGTGATTGCAGCTTTGATGCTGTACAGACACAAAAAATCCAAGTTCACTGATCCTGGAATGGGGAACCTCACCTACAGCAACCCC
TCCTACCGAACATCCACACAGGAAGTGAAGATTGAAGCAATCCCCAAACCAGCCATGTACAACCAGCTGTGCTATAAGAAAGAGGGAGGGCCTGACCATA
ACTACACCAAGGAGAAGATCAAGATCGTAGAGGGAATCTGCCTCCTGTCTGGGGATGATGCTGAGTGGGATGACCTCAAGCAACTGCGAAGCTCACGGGG
GGGCCTCCTCCGGGATCATGTATGCATGAAGACAGACACGGTGTCCATCCAGGCCAGCTCTGGCTCCCTGGATGACACAGAGACGGAGCAGCTGTTACAG
GAAGAGCAGTCTGAGTGTAGCAGCGTCCATACTGCAGCCACTCCAGAAAGACGAGGCTCTCTGCCAGACACGGGCTGGAAACATGAACGCAAGCTCTCCT
CAGAGAGCCAGGTCTAAATGCCCACATTCTCTTCCCTGCCTGCCTGTTCCTTCTCCTTTATGGACGTCTAGTCCTTGTGCTCGCTGATGGCACATCACGA
GAATTTAGACCTGGATTTTACCATGAACCTCACATCTTGTACTCCATCCTGGGCCCCCTGAAACTGCTTAT


Protein Sequence     (SEQ ID NO:341):
MRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQ
RKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWCETGYELR
PDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYW
TDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANL
DGSHRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNYTCACPTG
FRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVT
NKLYWTDAGTDRIEVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAIDYGSQRLYWADAGMKTI
EFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFS
CTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAVGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTD
GLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLW
ADAHTERIEAADLNGANRHTLVSPVQHPYGLTLLDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPR
PSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGL
KTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTR
RIYWVDAHLDRIESADLNGKLRQVLVGHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVNNGGCTHL
CFARASDFVCACPDEPDSQPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLYSSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYA
IGGLLSILLILVVIAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDDAEWDDLK
QLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV*



SNP Information


Context              (SEQ ID NO:1548):
AAGTTCACTGATCCTGGAATGGGGAACCTCACCTACAGCAACCCCTCCTACCGAACATCCACACAGGAAGTGAAGATTGAAGCAATCCCCAAACCAGCCA
W
GTACAACCAGCTGTGCTATAAGAAAGAGGGAGGGCCTGACCATAACTACACCAAGGAGAAGATCAAGATCGTAGAGGGAATCTGCCTCCTGTCTGGGGAT
Celera SNP ID:                hCV25965950
SNP Position Transcript:      5056
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|A,0)  african american(T,37|A,1)  total(T,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 1559,(M,ATG) (K,AAG)



Context              (SEQ ID NO:1549):
TACTACCTACCTGTTCCCCTCTTGACTTTCACTGTGACAATGGCAAGTGCATCCGCCGCTCCTGGGTGTGTGACGGGGACAACGACTGTGAGGATGACTC
R
GATGAGCAGGACTGTCCCCCCCGGGAGTGTGAGGAGGACGAGTTTCCCTGCCAGAATGGCTACTGCATCCGGAGTCTGTGGCACTGCGATGGTGACAATG
Celera SNP ID:                hCV25957494
SNP Position Transcript:      248
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:341, None



Context              (SEQ ID NO:1550):
GGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTTCGTATGTGCCTGTCCTGACGAACCTGATAGCC
R
GCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCCCAGTGCTACCCAACACACCACCTACCACCTTG
Celera SNP ID:                hCV1684225
SNP Position Transcript:      4636
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,10|G,6) ; no_pop(A,-|G,-) ; no_pop(A,210|G,
30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 1419,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:1551):
CGGGCCATCGTACTGTACCATGAGATGGGGTTTATGTACTGGACAGACTGGGGGGAGAATGCCAAGTTAGAGCGGTCCGGAATGGATGGCTCAGACCGCG
Y
GGTGCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCGAGCGAATTGAG
Celera SNP ID:                hCV16192429
SNP Position Transcript:      3307
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|C,35)  african american(T,0|C,34)  total(T,5|C,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 976,(A,GCG) (V,GTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1824|C,1168) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 976,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1552):
CATCTTCGCCAGGAGGATAGACATTCGCATGGTCTCCCTGGACATCCCTTATTTTGCTGATGTGGTGGTACCAATCAACATTACCATGAAGAACACCATT
R
CCGTTGGAGTAGACCCCCAGGAAGGAAAGGTGTACTGGTCTGACAGCACACTGCACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACAT
Celera SNP ID:                hCV25957240
SNP Position Transcript:      2952
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,9)  african american(G,6|A,28)  total(G,35|A,37)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 858,(A,GCC) (T,ACC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 858,(A,GCC) (T,ACC)



Context              (SEQ ID NO:1553):
CTGAAGACCACTGACGGGCTGGCAGTGGACTGGGTGGCCAGGAACCTGTACTGGACAGACACAGGTCGAAATACCATTGAGGCGTCCAGGCTGGATGGTT
Y
CTGCCGCAAAGTACTGATCAACAATAGCCTGGATGAGCCCCGGGCCATTGCTGTTTTCCCCAGGAAGGGGTACCTCTTCTGGACAGACTGGGGCCACATT
Celera SNP ID:                hCV25969845
SNP Position Transcript:      4078
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 1233,(S,TCC) (F,TTC)



Context              (SEQ ID NO:1554):
CCTAATGGACATCCATGTCTTCCACCGCCGCCGGCCCCCAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCA
R
ATCCAAGCGGATTCAGCTGTACCTGCCCCACAGGCATCAACCTGCTGTCTGATGGCAAGACCTGCTCACCAGGCATGAACAGTTTCCTCATCTTCGCCAG
Celera SNP ID:                hCV25967228
SNP Position Transcript:      2763
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,0|A,38)  total(G,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 795,(N,AAT) (D,GAT)



Context              (SEQ ID NO:1555):
CTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATGCAGGCTGTGGACCGGGCACAGCCACTAGGTTTTAACAAGTGCGGCTC
R
AGAAATGGCGGCTGCTCCCACCTCTGCTTGCCTCGGCCTTCTGGCTTCTCCTGTGCCTGCCCCACTGGCATCCAGCTGAAGGGAGATGGGAAGACCTGTG
Celera SNP ID:                hCV25973399
SNP Position Transcript:      3644
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,3)  total(G,71|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1088,(S,TCG) (S,TCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1088,(S,TCG) (S,TCA)



Context              (SEQ ID NO:1556):
ATATCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTT
Y
GTATGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCC
Celera SNP ID:                hCV1684226
SNP Position Transcript:      4604
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1172|T,1828) ; no_pop(C,14|T,2) ; no_pop(C,-|T,-) ; no_pop(C,
1320|T,696)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1408,(F,TTC) (F,TTT)



Context              (SEQ ID NO:1557):
TACCCTGGACTATGATACCCGCAGGATCTACTGGGTGGATGCGCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTC
R
GCCATGTGTCCCACCCCTTTGCCCTCACACAGCAAGACAGGTGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGG
Celera SNP ID:                hCV1684227
SNP Position Transcript:      4359
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,780|A,2188) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,1
46|A,86)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 1327,(G,GGC) (S,AGC)



Context              (SEQ ID NO:1558):
CGATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCTTGGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAAC
R
GGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAGAATTGCCGGCCCCGGACGGGTGAGGAGAACTGCAATGTTAACAACGGTGGCTGTGC
Celera SNP ID:                hCV25958948
SNP Position Transcript:      696
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,30|A,2)  total(G,66|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 106,(G,GGG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,2)  total(G,74|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 106,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1559):
GCCTGGCCAGCAGCCCCGAGTGTGCTTGTGGTCGGAGCCACTTCACATGTGCAGTGAGTGCTCTTGGAGAGTGTAC
S
TGCATCCCTGCCCAGTGGCAGTGTGATGGAGACAATGACTGCGGGGACCACAGCGATGAGGATGGATGTATACTACCTACCTGTTCCCCTCTTGACTTTC
Celera SNP ID:                hCV25961806
SNP Position Transcript:      77
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,38)  african american(G,8|C,28)  total(G,8|C,66)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:341, None



Context              (SEQ ID NO:1560):
CTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAGGATTGAGGTGGCCAATCTGGA
Y
GGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTACTGGACAGACTGGGGCA
Celera SNP ID:                hCV30710979
SNP Position Transcript:      1322
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 314,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1561):
CCTCGAGGATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGA
R
GGTACCATTTACTGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCT
Celera SNP ID:                hCV25956906
SNP Position Transcript:      1394
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,0)  african american(G,24|A,8)  total(G,54|A,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 338,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1562):
ACAACCTGGAGAATGCCATTGCCCTTGATTTCCACCACCGCCGCGAGCTTGTCTTCTGGTCAGATGTCACCCTGGACCGGATCCTCCGTGCCAACCTCAA
Y
GGCAGCAACGTGGAGGAGGTTGTGTCTACTGGGCTGGAGAGCCCAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCA
Celera SNP ID:                hCV25960070
SNP Position Transcript:      1193
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,33)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 271,(N,AAC) (N,AAT)



Context              (SEQ ID NO:1563):
TCATCGTGGTTTCCCCTCAGCGGCAGACAGGGACCAATGCCTGTGGTGTGAACAATGGTGGCTGCACCCACCTCTGCTTTGCCAGAGCCTCGGACTTCGT
R
TGTGCCTGTCCTGACGAACCTGATAGCCAGCCCTGCTCCCTTGTGCCTGGCCTGGTACCACCAGCTCCTAGGGCTACTGGCATGAGTGAAAAGAGCCCAG
Celera SNP ID:                hDV70919848
SNP Position Transcript:      4607
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1409,(V,GTA) (V,GTG)



Context              (SEQ ID NO:1564):
GCTCATCAACAACAACCTAGGATGGCCCAATGGACTGACTGTGGACAAGGCCAGCTCCCAACTGCTATGGGCCGATGCCCACACCGAGCGAATTGAGGCT
R
CTGACCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTACTGGACTGACTGGCA
Celera SNP ID:                hCV16192430
SNP Position Transcript:      3411
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 1011,(A,GCT) (T,ACT)



Context              (SEQ ID NO:1565):
CAGGGGGCCTGGCTGTGGATTGGGTCCATGACAAACTCTACTGGACCGACTCAGGCACCTCGAGGATTGAGGTGGCCAATCTGGACGGGGCCCACCGGAA
R
GTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTACTGGACAGACTGGGGCAACACCCCCCGTATTG
Celera SNP ID:                hCV25956352
SNP Position Transcript:      1337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,0)  african american(G,33|A,3)  total(G,67|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 319,(K,AAG) (K,AAA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 319,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1566):
CGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCT
Y
GGACCAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAACGGGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAG
Celera SNP ID:                hCV25958820
SNP Position Transcript:      640
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,2)  african american(T,27|C,9)  total(T,65|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 87,(L,TTG) (S,TCG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 87,(L,TTG) (S,TCG)



Context              (SEQ ID NO:1567):
CACAGGATCAGTCGTGCCAATCTGGATGGCTCACAGCATGAGGACATCATCACCACAGGGCTACAGACCACAGATGGGCTCGCGGTTGATGCCATTGGCC
R
GAAAGTATACTGGACAGACACGGGAACAAACCGGATTGAAGTGGGCAACCTGGACGGGTCCATGCGGAAAGTGTTGGTGTGGCAGAACCTTGACAGTCCC
Celera SNP ID:                hCV25971972
SNP Position Transcript:      3106
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,1)  total(G,75|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 909,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1568):
GACCAAGAGCATACAGAGCGCTGACCGGCTGACAGGGCTGGACCGGGAGACTCTGCAGGAGAACCTGGAAAACCTAATGGACATCCATGTCTTCCACCGC
Y
GCCGGCCCCCAGTGTCTACACCATGTGCTATGGAGAATGGCGGCTGTAGCCACCTGTGTCTTAGGTCCCCAAATCCAAGCGGATTCAGCTGTACCTGCCC
Celera SNP ID:                hCV25966524
SNP Position Transcript:      2691
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:341, 771,(R,CGC) (C,TGC)



Context              (SEQ ID NO:1569):
AGGTGGCCAATCTGGACGGGGCCCACCGGAAGGTGTTGCTGTGGCAGAACCTGGAGAAGCCCCGGGCCATTGCCTTGCATCCCATGGAGGGTACCATTTA
Y
TGGACAGACTGGGGCAACACCCCCCGTATTGAGGCCTCCAGCATGGATGGCTCTGGACGCCGCATCATTGCCGATACCCATCTCTTCTGGCCCAATGGCC
Celera SNP ID:                hCV25966115
SNP Position Transcript:      1406
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,33)  total(T,1|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 342,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1570):
GTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGACACCGACTGCAAAGATGGCTCCGATGAGGAGAACTGTCCCACCTCCATGTGTAC
R
GCAGAACAGTTCCGCTGTCACTCAGGCCGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATGAAGAGAACTGTG
Celera SNP ID:                hCV7472053
SNP Position Transcript:      512
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,2)  african american(G,27|A,9)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 44,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 44,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1571):
ATACCCGCAGGATCTACTGGGTGGATGCGCATCTGGACCGGATCGAGAGTGCTGACCTCAATGGGAAACTGCGGCAGGTCTTGGTCGGCCATGTGTCCCA
Y
CCCTTTGCCCTCACACAGCAAGACAGGTGGATCTACTGGACAGACTGGCAGACCAAGTCAATCCAGCGTGTTGACAAATACTCAGGCCGGAACAAGGAGA
Celera SNP ID:                hCV25967464
SNP Position Transcript:      4373
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,1|C,37)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1331,(H,CAC) (H,CAT)



Context              (SEQ ID NO:1572):
CCTGAATGGTGCCAATCGGCATACATTGGTGTCACCGGTGCAGCACCCATATGGCCTCACCCTGCTCGACTCCTATATCTACTGGACTGACTGGCAGACT
M
GGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAATGTCATCCTCGTGAGGTCCAACCTGCCAGGCCTCATGGACATGCAGGCTGTGGACCGGGCACA
Celera SNP ID:                hCV25963103
SNP Position Transcript:      3516
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|A,1)  african american(C,38|A,0)  total(C,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:341, 1046,(R,CGG) (R,AGG)



Gene Number:                  35
Celera Gene:                  hCG2017435 - 30000054083000
Celera Transcript:            hCT2310971 - 30000054083001
Public Transcript Accession:
Celera Protein:               hCP1902976 - 30000054083003
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VYAU(10609985..10623363)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:81):
GCGGAGGTTGCTGCAAAGCATGGTGAGGCCCAGGTGAAGATCTGGAGGCACTCCTATGATGTCCCACCACCTCCAATGGAGCCCAACCATCCTTTCTATA
GCAACATCAGTAAGGATCGCAGGTATGCAGACCTCACAGAAGATCTGCTACCCTCCTGTGAGAGTCTGAAGGACACTATTGCCAGAGCTCTGACCTTCTG
GAATGAAGAAATAGTTCCCCAGATCAAGGAGGGGAAACGTGTACTGATTGCAGCCCATGGCAACAGCCTCCGGGGCATTGCCAAGCATCTGGAGGGTCTC
TCTGAAGAGGCTATCATGGAGCTGAACCTGCCGACTGGTATTCCCATTGTCTATGAATGGGACAAGAACTTGAAGCCTATCAAGCCCATGCAGTTTCTGG
GGGATGAAGAGATGGTACGCAAAGCCATGGAAGCTGTGGCTGCCCAGGGCAAGGCCAAGAAGTGAAGGCCAGCAGGGAGGATACTGTCCCCAGGAGCACC
CTCCCTGCCTGTCTTGTCCCTCTGCCCCTCCCACCTGCACATGTCACACTGACCCCATCTGTAGACATCTTGAGTTGTAGCTGCAGATGGGGACCAGTGA
CTCCCATTTTCATTTTAGCCATTTTGTCTCCTGCACCCACTCCCTTCATACAATCTAGTCAGAATAGCACTTCTAGAGCACAGGTTCTCAGTCCAAGCTG
TGGAAAAGCTCCCCTTATCCAACAGAGTTTAAAAGTAGTGACTTGGGTTTTTGCGAGTTGCTTTGTTTACTAAGGACTTGTGGGGAGGAACCATGCTAAG
CCATGACCAATGAGGAGAAGCAACAGAGCCTGTCTGTCCCCAGGAGCCAGTCCTCTGCTCGTCTGCAGTCAGGCCACTGCCTGAGGGCTCTAGTCATTCC
AGTGGAAGATGAATGTAACCTGCATGGTGATGTGACAACTGTTTCCTCCCTGACGCCAGAGGAGCTGGCTCTAGAAGGTTGGGATCAATCCTGAATTTAG
TTATGTGTTACATTTAATTTAAGAAGTATAGTATATATAAATAATACAAAACAATAACCCTTCTGGGGTTTCTCGTGGCGGTTGAAATAGTCCCACATGT
AGTCATCAGAAAATAAGCCATTCCTCATACCAATATAGGATCAGCTCCTTGACCTCTGAGGGGCAGGAGTGCTTCCTGGTGTGGGTATTACAATCCCTTC
CTGCCTTGTTTCGTGACAGTGAAATGCCTCTTGGTCCTGTCCAAGTATGTCTTTCACTGATTTCTGAATCATGTTCTACTTGCTTGGCCCTGCCACATGG
GTCCAGTGTTCATCTGAGCATAACTGTACTAAATCTTTTTCCAGATCAGTATAATAAAGGAGTGATGTGAAAAAAAAA


Protein Sequence     (SEQ ID NO:342):
MEPNHPFYSNISKDRRYADLTEDLLPSCESLKDTIARALTFWNEEIVPQIKEGKRVLIAAHGNSLRGIAKHLEGLSEEAIMELNLPTGIPIVYEWDKNLK
PIKPMQFLGDEEMVRKAMEAVAAQGKAKK*



SNP Information


Context              (SEQ ID NO:1573):
ATGCAGTTTCTGGGGGATGAAGAGATGGTACGCAAAGCCATGGAAGCTGTGGCTGCCCAGGGCAAGGCCAAGAAGTGAAGGCCAGCAGGGAGGATACTGT
Y
CCCAGGAGCACCCTCCCTGCCTGTCTTGTCCCTCTGCCCCTCCCACCTGCACATGTCACACTGACCCCATCTGTAGACATCTTGAGTTGTAGCTGCAGAT
Celera SNP ID:                hCV8376861
SNP Position Transcript:      488
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1574):
CCAAGAAGTGAAGGCCAGCAGGGAGGATACTGTCCCCAGGAGCACCCTCCCTGCCTGTCTTGTCCCTCTGCCCCTCCCACCTGCACATGTCACACTGACC
M
CATCTGTAGACATCTTGAGTTGTAGCTGCAGATGGGGACCAGTGACTCCCATTTTCATTTTAGCCATTTTGTCTCCTGCACCCACTCCCTTCATACAATC
Celera SNP ID:                hCV25961475
SNP Position Transcript:      555
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,9|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1575):
CCTGAGGGCTCTAGTCATTCCAGTGGAAGATGAATGTAACCTGCATGGTGATGTGACAACTGTTTCCTCCCTGACGCCAGAGGAGCTGGCTCTAGAAGGT
T
GGGATCAATCCTGAATTTAGTTATGTGTTACATTTAATTTAAGAAGTATAGTATATATAAATAATACAAAACAATAACCCTTCTGGGGTTTCTCGTGGCG
Celera SNP ID:                hCV27162674
SNP Position Transcript:      980
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,12|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1576):
TGACAACTGTTTCCTCCCTGACGCCAGAGGAGCTGGCTCTAGAAGGTTGGGATCAATCCTGAATTTAGTTATGTGTTACATTTAATTTAAGAAGTATAGT
R
TATATAAATAATACAAAACAATAACCCTTCTGGGGTTTCTCGTGGCGGTTGAAATAGTCCCACATGTAGTCATCAGAAAATAAGCCATTCCTCATACCAA
Celera SNP ID:                hCV32062208
SNP Position Transcript:      1033
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1577):
TGGGATCAATCCTGAATTTAGTTATGTGTTACATTTAATTTAAGAAGTATAGTATATATAAATAATACAAAACAATAACCCTTCTGGGGTTTCTCGTGGC
R
GTTGAAATAGTCCCACATGTAGTCATCAGAAAATAAGCCATTCCTCATACCAATATAGGATCAGCTCCTTGACCTCTGAGGGGCAGGAGTGCTTCCTGGT
Celera SNP ID:                hCV25966349
SNP Position Transcript:      1080
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,36|A,2)  total(G,68|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1578):
TTATGTGTTACATTTAATTTAAGAAGTATAGTATATATAAATAATACAAAACAATAACCCTTCTGGGGTTTCTCGTGGCGGTTGAAATAGTCCCACATGT
R
GTCATCAGAAAATAAGCCATTCCTCATACCAATATAGGATCAGCTCCTTGACCTCTGAGGGGCAGGAGTGCTTCCTGGTGTGGGTATTACAATCCCTTCC
Celera SNP ID:                hCV8376862
SNP Position Transcript:      1101
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,26|A,6)  african american(G,14|A,16)  total(G,40|A,22)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,14|A,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1579):
AACCCTTCTGGGGTTTCTCGTGGCGGTTGAAATAGTCCCACATGTAGTCATCAGAAAATAAGCCATTCCTCATACCAATATAGGATCAGCTCCTTGACCT
Y
TGAGGGGCAGGAGTGCTTCCTGGTGTGGGTATTACAATCCCTTCCTGCCTTGTTTCGTGACAGTGAAATGCCTCTTGGTCCTGTCCAAGTATGTCTTTCA
Celera SNP ID:                hCV32062207
SNP Position Transcript:      1156
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1580):
CCAATATAGGATCAGCTCCTTGACCTCTGAGGGGCAGGAGTGCTTCCTGGTGTGGGTATTACAATCCCTTCCTGCCTTGTTTCGTGACAGTGAAATGCCT
Y
TTGGTCCTGTCCAAGTATGTCTTTCACTGATTTCTGAATCATGTTCTACTTGCTTGGCCCTGCCACATGGGTCCAGTGTTCATCTGAGCATAACTGTACT
Celera SNP ID:                hCV32062206
SNP Position Transcript:      1230
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Context              (SEQ ID NO:1581):
CAGGAGTGCTTCCTGGTGTGGGTATTACAATCCCTTCCTGCCTTGTTTCGTGACAGTGAAATGCCTCTTGGTCCTGTCCAAGTATGTCTTTCACTGATTT
Y
TGAATCATGTTCTACTTGCTTGGCCCTGCCACATGGGTCCAGTGTTCATCTGAGCATAACTGTACTAAATCTTTTTCCAGATCAGTATAATAAAGGAGTG
Celera SNP ID:                hCV32062205
SNP Position Transcript:      1264
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:342, None



Gene Number:                  36
Celera Gene:                  hCG20635 - 120000094638371
Celera Transcript:            hCT11714 - 120000094638372
Public Transcript Accession:
Celera Protein:               hCP38275 - 197000069388563
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W0YB(5869303..5889327)
Chromosome:                   4
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:82):
CAGACCTAAGGCCCAGGGCGCCTGGGGGCTGGAGCAAGAGAAGCAAAAGGAGCCAAGGGTGGGGGTTTGGGGTTCTTGTGAGGGCCCAGCCCCAGGACCC
CAGGACCAGGACACCCAGGAGCCCCAGGGCCCAGCCCCAGTTCAGAAGGCAGGGGCCTTCTGAGGGAGCTTAAGGGTCCCACAGCCCAGGACCCCCACCA
GGGCCAGTGGCCAGCGTTGGGGGACTCAGCCTCCTCGTCGCTCGTCCTCTCTGTTTCTCCCACCTTTTGCCCCCTTTCTCCTTGCCTGTTCCCACCCGAG
GCCCCCTCTTGGCCTGCGTGAGCCGGGGCGGCACTGAACTGGGGGCCGATCCGCCTGGGCGGCGGTGAGAGGCAGGGCCGGGAGCCGGGCCGCTGGGTTT
GGGCCTGGCCCGCTCGCCGCAATATTGATGGCCCGTCAGTGCGGCCCTGATTCCTGTGCTTTCAGTTAAAAGGTTTCTGTTGTTGTAGCTTATGCAGTTG
CTCTGTTGCTATGGAAACGTGACATCAAAATGACGTTTCCCGTTTAAAAGCTTTTAACTAAATTCCTGCCTGTCAGATGTAGGCCCCATTTTGAGCGTGG
AGCTGCCTTCGAGCGAGCGTGAGCGGCGCCTCCCGCCCATGGTGCGTGGGGCCGGGCCGGGGCCCTCGCTGAGCGCGCTCTCTCACCCCACAGGCGCCTC
CGGCATGGCGGCGGCCGAGGGGCCCGGCTACCTCGTGTCTCCCCAGGCGGAGAAGCACCGGCGGGCCCGCAACTGGACGGACGCCGAGATGCGCGGCCTC
ATGCTGGTCTGGGAGGAGTTCTTCGACGAGCTCAAGCAGACCAAGCGCAACGCCAAGGTGTACGAGAAGATGGCCAGCAAGCTCTTCGAGATGACCGGCG
AGCGCAGGCTGGGCGAGGAGATCAAGATCAAGATCACCAACATGACCTTCCAGTACAGGAAATTAAAATGCATGACAGATAGCGAGTCCGCCCCGCCCGA
CTGGCCCTATTACCTAGCCATTGATGGGATTCTGGCCAAGGTCCCCGAGTCCTGTGATGGCAAACTGCCGGACAGCCAGCCGCCGGGGCCCTCCACGTCC
CAGACCGAGGCGTCCCTGTCGCCGCCCGCTAAGTCCACCCCTCTGTACTTCCCGTATAACCAGTGCTCCTACGAAGGCCGCTTCGAGGATGATCGCTCCG
ACAGCTCCTCCAGCTTACTGTCCCTTAAGTTCAGGTCGGAGGAGCGGCCGGTGAAGAAGCGCAAGGTGCAGAGCTGCCACCTGCAGAAGAAGCAGCTGCG
GCTGCTGGAGGCCATGGTGGAGGAGCAGCGCCGGCTGAGCCGCGCCGTGGAGGAGACCTGCCGCGAGGTGCGCCGTGTGCTGGACCAGCAGCACATCCTG
CAGGTGCAGAGCCTGCAGCTGCAGGAGCGCATGATGAGTCTGCTGGAGAGGATCATCACCAAGTCCAGCGTCTAGGCCAGCAGGCGGCGGCGGCGGCGGG
GCCGGGCGGCTGGTGGTACTGCTCAGGCCACCCAGGGCAGGCCACTCAGGCCAGGCGGGCAAGGGGGCCGCCCCGCGAGCGGAGACCGCCTTCCACCTGG
CCTCTGGCAGGATGTCCCTTCTGAGGGGTATTTTGAGGAACCCCCAGGCCCTGGGGACCGTGAGGCTCCAGTCTCCAGCATGAATGCCCTTCCTCGGACA
CAGGCCAGGGCCTCTGGGGTTCACTCCGAGTAAGAACGTCCTAGAGCCACTCTCCAGTGTCGTTACTATCAATGATACTTGACGTGGCTTTGATATTAAA
CGTATACTTTTTCATTCTTGCCTGGAACGCACAGTTTGCTGTTGCTGGCTTGGTGAGGATGCCCTGATTGATGGATCCCGAAAATGAAAGCAGATGGAAA
CGGGTTGGGGCAGGCTGGAGCTGGGGGAGCTCTCTCCTGAAGGGAACCCTGTGTCCTCCCTCACCAGGACCTCTGCGTCTCTCCTTAAATGGCCTCTGAC
GCCTGATGAAAACCCCAGCGACCTTCCAGGAGGCTTTTATTCAGCTCTGTTTGGAGCATCAGGTGTTTCCACTGCCTCCTTAGCAATGACACTAATAAAA
GTCGTAACACCTGTTCAC


Protein Sequence     (SEQ ID NO:343):
VQVGGAAGEEAQGAELPPAEEAAAAAGGHGGGAAPAEPRRGGDLPRGAPCAGPAAHPAGAEPAAAGAHDESAGEDHHQVQRLGQQAAAAAGPGGWWYCSG
HPGQATQARRARGPPRERRPPSTWPLAGCPF*



SNP Information


Context              (SEQ ID NO:1582):
GACAGCTCCTCCAGCTTACTGTCCCTTAAGTTCAGGTCGGAGGAGCGGCCGGTGAAGAAGCGCAAGGTGCAGAGCTGCCACCTGCAGAAGAAGCAGCTGC
K
GCTGCTGGAGGCCATGGTGGAGGAGCAGCGCCGGCTGAGCCGCGCCGTGGAGGAGACCTGCCGCGAGGTGCGCCGTGTGCTGGACCAGCAGCACATCCTG
Celera SNP ID:                hCV25991928
SNP Position Transcript:      1300
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:343, 24,(A,GCG) (A,GCT)



Context              (SEQ ID NO:1583):
GGGCCGATCCGCCTGGGCGGCGGTGAGAGGCAGGGCCGGGAGCCGGGCCGCTGGGTTTGGGCCTGGCCCGCTCGCCGCAATATTGATGGCCCGTCAGTGC
R
GCCCTGATTCCTGTGCTTTCAGTTAAAAGGTTTCTGTTGTTGTAGCTTATGCAGTTGCTCTGTTGCTATGGAAACGTGACATCAAAATGACGTTTCCCGT
Celera SNP ID:                hCV16245635
SNP Position Transcript:      443
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1584):
CCTGCAGCTGCAGGAGCGCATGATGAGTCTGCTGGAGAGGATCATCACCAAGTCCAGCGTCTAGGCCAGCAGGCGGCGGCGGCGGCGGGGCCGGGCGGCT
R
GTGGTACTGCTCAGGCCACCCAGGGCAGGCCACTCAGGCCAGGCGGGCAAGGGGGCCGCCCCGCGAGCGGAGACCGCCTTCCACCTGGCCTCTGGCAGGA
Celera SNP ID:                hCV25993448
SNP Position Transcript:      1512
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,12)  african american(A,2|G,2)  total(A,2|G,14)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:343, 95,(W,TGG) (*,TAG)



Context              (SEQ ID NO:1585):
GGACAGCCAGCCGCCGGGGCCCTCCACGTCCCAGACCGAGGCGTCCCTGTCGCCGCCCGCTAAGTCCACCCCTCTGTACTTCCCGTATAACCAGTGCTCC
Y
ACGAAGGCCGCTTCGAGGATGATCGCTCCGACAGCTCCTCCAGCTTACTGTCCCTTAAGTTCAGGTCGGAGGAGCGGCCGGTGAAGAAGCGCAAGGTGCA
Celera SNP ID:                hCV25999003
SNP Position Transcript:      1170
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1586):
GCAGGCGGCGGCGGCGGCGGGGCCGGGCGGCTGGTGGTACTGCTCAGGCCACCCAGGGCAGGCCACTCAGGCCAGGCGGGCAAGGGGGCCGCCCCGCGAG
Y
GGAGACCGCCTTCCACCTGGCCTCTGGCAGGATGTCCCTTCTGAGGGGTATTTTGAGGAACCCCCAGGCCCTGGGGACCGTGAGGCTCCAGTCTCCAGCA
Celera SNP ID:                hCV25994102
SNP Position Transcript:      1580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|T,0)  african american(C,3|T,1)  total(C,7|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:343, 118,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1587):
GCCACCTGCAGAAGAAGCAGCTGCGGCTGCTGGAGGCCATGGTGGAGGAGCAGCGCCGGCTGAGCCGCGCCGTGGAGGAGACCTGCCGCGAGGTGCGCCG
Y
GTGCTGGACCAGCAGCACATCCTGCAGGTGCAGAGCCTGCAGCTGCAGGAGCGCATGATGAGTCTGCTGGAGAGGATCATCACCAAGTCCAGCGTCTAGG
Celera SNP ID:                hCV2480522
SNP Position Transcript:      1376
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,16|T,12)  african american(C,4|T,2)  total(C,20|T,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:343, 50,(C,TGT) (R,CGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,126|T,58) ; no_pop(C,16|T,14) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:343, 50,(C,TGT) (R,CGT)



Context              (SEQ ID NO:1588):
TCCTTGCCTGTTCCCACCCGAGGCCCCCTCTTGGCCTGCGTGAGCCGGGGCGGCACTGAACTGGGGGCCGATCCGCCTGGGCGGCGGTGAGAGGCAGGGC
Y
GGGAGCCGGGCCGCTGGGTTTGGGCCTGGCCCGCTCGCCGCAATATTGATGGCCCGTCAGTGCGGCCCTGATTCCTGTGCTTTCAGTTAAAAGGTTTCTG
Celera SNP ID:                hCV27858458
SNP Position Transcript:      379
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,17|T,1)  total(C,53|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1589):
CTGGCAGGATGTCCCTTCTGAGGGGTATTTTGAGGAACCCCCAGGCCCTGGGGACCGTGAGGCTCCAGTCTCCAGCATGAATGCCCTTCCTCGGACACAG
R
CCAGGGCCTCTGGGGTTCACTCCGAGTAAGAACGTCCTAGAGCCACTCTCCAGTGTCGTTACTATCAATGATACTTGACGTGGCTTTGATATTAAACGTA
Celera SNP ID:                hCV7565290
SNP Position Transcript:      1704
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,90|A,2) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1590):
GAACCCCCAGGCCCTGGGGACCGTGAGGCTCCAGTCTCCAGCATGAATGCCCTTCCTCGGACACAGGCCAGGGCCTCTGGGGTTCACTCCGAGTAAGAAC
R
TCCTAGAGCCACTCTCCAGTGTCGTTACTATCAATGATACTTGACGTGGCTTTGATATTAAACGTATACTTTTTCATTCTTGCCTGGAACGCACAGTTTG
Celera SNP ID:                hCV32373227
SNP Position Transcript:      1738
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1591):
AACCCCCAGGCCCTGGGGACCGTGAGGCTCCAGTCTCCAGCATGAATGCCCTTCCTCGGACACAGGCCAGGGCCTCTGGGGTTCACTCCGAGTAAGAACG
R
CCTAGAGCCACTCTCCAGTGTCGTTACTATCAATGATACTTGACGTGGCTTTGATATTAAACGTATACTTTTTCATTCTTGCCTGGAACGCACAGTTTGC
Celera SNP ID:                hCV16201430
SNP Position Transcript:      1739
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1592):
CTCCAGTCTCCAGCATGAATGCCCTTCCTCGGACACAGGCCAGGGCCTCTGGGGTTCACTCCGAGTAAGAACGTCCTAGAGCCACTCTCCAGTGTCGTTA
S
TATCAATGATACTTGACGTGGCTTTGATATTAAACGTATACTTTTTCATTCTTGCCTGGAACGCACAGTTTGCTGTTGCTGGCTTGGTGAGGATGCCCTG
Celera SNP ID:                hCV16560
SNP Position Transcript:      1766
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1593):
AGCTGGGGGAGCTCTCTCCTGAAGGGAACCCTGTGTCCTCCCTCACCAGGACCTCTGCGTCTCTCCTTAAATGGCCTCTGACGCCTGATGAAAACCCCAG
S
GACCTTCCAGGAGGCTTTTATTCAGCTCTGTTTGGAGCATCAGGTGTTTCCACTGCCTCCTTAGCAATGACACTAATAAAAGTCGTAACACCTGTTCAC
Celera SNP ID:                hCV2229282
SNP Position Transcript:      2019
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,9|G,5) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Context              (SEQ ID NO:1594):
TGATGAAAACCCCAGCGACCTTCCAGGAGGCTTTTATTCAGCTCTGTTTGGAGCATCAGGTGTTTCCACTGCCTCCTTAGCAATGACACTAATAAAAGTC
R
TAACACCTGTTCAC
Celera SNP ID:                hCV2229281
SNP Position Transcript:      2104
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:343, None



Gene Number:                  37
Celera Gene:                  hCG20967 - 84000314848978
Celera Transcript:            hCT12051 - 84000314848979
Public Transcript Accession:  NM_001202
Celera Protein:               hCP40076 - 197000069389927
Public Protein Accession:     NP_001193
Gene Symbol:                  BMP4
Protein Name:                  bone morphogenetic protein 4
Celera Genomic Axis:          GA_x5YUV32W0QP(1214728..1235752)
Chromosome:                   14
OMIM NUMBER:                  112262
OMIM Information:


Transcript Sequence  (SEQ ID NO:83):
GAGGGAGGGGCCGCCGGGGAAGAGGAGGAGGAAGGAAAGAAAGAAAGCGAGGGAGGGAAAGAGGAGGAAGGAAGATGCGAGAAGGCAGAGGAGGAGGGAG
GGAGGGAAGGAGCGCGGAGCCCGGCCCGGAAGCTAGGTGAGTGTGGCATCCGAGCTGAGGGACGCGAGCCTGAGACGCCGCTGCTGCTCCGGCTGAGTAT
CTAGCTTGTCTCCCCGATGGGATTCCCGTCCAAGCTATCTCGAGCCTGCAGCGCCACAGTCCCCGGCCCTCGCCCAGGTTCACTGCAACCGTTCAGAGGT
CCCCAGGAGCTGCTGCTGGCGAGCCCGCTACTGCAGGGACCTATGGAGCCATTCCGTAGTGCCATCCCGAGCAACGCACTGCTGCAGCTTCCCTGAGCCT
TTCCAGCAAGTTTGTTCAAGATTGGCTGTCAAGAATCATGGACTGTTATTATATGCCTTGTTTTCTGTCAAGACACCATGATTCCTGGTAACCGAATGCT
GATGGTCGTTTTATTATGCCAAGTCCTGCTAGGAGGCGCGAGCCATGCTAGTTTGATACCTGAGACGGGGAAGAAAAAAGTCGCCGAGATTCAGGGCCAC
GCGGGAGGACGCCGCTCAGGGCAGAGCCATGAGCTCCTGCGGGACTTCGAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCA
AGAGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGA
GCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTC
TTTAACCTCAGCAGCATCCCTGAGAACGAGGTGATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCT
TCCACCGTATAAACATTTATGAGGTTATGAAGCCCCCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA
TGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTC
CATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACCTCAAGGGAGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCACCT
TTGGCCATGATGGCCGGGGCCATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCACTCACAGCGGGCCAGGAAGAAGAATAAGAACTG
CCGGCGCCACTCGCTCTATGTGGACTTCAGCGATGTGGGCTGGAATGACTGGATTGTGGCCCCACCAGGCTACCAGGCCTTCTACTGCCATGGGGACTGC
CCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCAGTATCCCCAAAGCCTGTTGTGTGC
CCACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATGGTAGTAGAGGGATGTGGGTGCCG
CTGAGATCAGGCAGTCCTTGAGGATAGACAGATATACACACCACACACACACACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTA
CACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAAGGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGT
GCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACTACGTATTAAAAGAAAAAAATAAAATGAGTCATTATTTTAAAGGT


Protein Sequence     (SEQ ID NO:344):
MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIH
STGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLL
DTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEM
VVEGCGCR*



SNP Information


Context              (SEQ ID NO:1595):
GCCTTCTACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCA
S
TATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATG
Celera SNP ID:                hCV29213862
SNP Position Transcript:      1577
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:344, 367,(S,AGT) (T,ACT)



Context              (SEQ ID NO:1596):
GAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGT
S
TGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAA
Celera SNP ID:                hCV29213865
SNP Position Transcript:      749
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:344, 91,(S,TCT) (C,TGT)



Context              (SEQ ID NO:1597):
GCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGG
R
CCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTT
Celera SNP ID:                hCV29213864
SNP Position Transcript:      1150
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:344, 225,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1598):
AGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTCAGCAGCATCCCTGAGAACGAGG
Y
GATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATTTATGAGGTTATGAAG
Celera SNP ID:                hCV9597660
SNP Position Transcript:      932
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,114|C,70) ; no_pop(T,172|C,82) ; no_pop(T,94|C,146)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:344, 152,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1599):
TGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACC
Y
GGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACC
Celera SNP ID:                hCV29213863
SNP Position Transcript:      1153
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:344, 226,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1600):
CACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAA
W
GGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAAC
Celera SNP ID:                hCV26728029
SNP Position Transcript:      1852
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:344, None



Context              (SEQ ID NO:1601):
ACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAA
W
GAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACT
Celera SNP ID:                hCV11928006
SNP Position Transcript:      1853
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:344, None



Gene Number:                  37
Celera Gene:                  hCG20967 - 84000314848978
Celera Transcript:            hCT1955929 - 84000314848987
Public Transcript Accession:  NM_001202
Celera Protein:               hCP1765419 - 197000069389928
Public Protein Accession:     NP_001193
Gene Symbol:                  BMP4
Protein Name:                  bone morphogenetic protein 4
Celera Genomic Axis:          GA_x5YUV32W0QP(1214728..1235752)
Chromosome:                   14
OMIM NUMBER:                  112262
OMIM Information:


Transcript Sequence  (SEQ ID NO:84):
GAAGGAAGTGGCGGGGGAAGGAGTGTGGTGGTGGTTTAAAAAATAAGGGAAGCCGAGGCGAGAGAGACGCAGACGCAGAGGTCGAGCGCAGGCCGAAAGC
TGTTCACCGTTTTCTCGACTCCGGGGAGCCATTCCGTAGTGCCATCCCGAGCAACGCACTGCTGCAGCTTCCCTGAGCCTTTCCAGCAAGTTTGTTCAAG
ATTGGCTGTCAAGAATCATGGACTGTTATTATATGCCTTGTTTTCTGTCAAGACACCATGATTCCTGGTAACCGAATGCTGATGGTCGTTTTATTATGCC
AAGTCCTGCTAGGAGGCGCGAGCCATGCTAGTTTGATACCTGAGACGGGGAAGAAAAAAGTCGCCGAGATTCAGGGCCACGCGGGAGGACGCCGCTCAGG
GCAGAGCCATGAGCTCCTGCGGGACTTCGAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCGGAC
TACATGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCA
ACACCGTGAGGAGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTCAGCAGCATCCC
TGAGAACGAGGTGATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATTTAT
GAGGTTATGAAGCCCCCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTT
TTGATGTGAGCCCTGCGGTCCTTCGCTGGACCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCA
GGGCCAGCATGTCAGGATTAGCCGATCGTTACCTCAAGGGAGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCACCTTTGGCCATGATGGCCGGGGC
CATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCACTCACAGCGGGCCAGGAAGAAGAATAAGAACTGCCGGCGCCACTCGCTCTATG
TGGACTTCAGCGATGTGGGCTGGAATGACTGGATTGTGGCCCCACCAGGCTACCAGGCCTTCTACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCA
CCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCAGTATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCCATC
TCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATGGTAGTAGAGGGATGTGGGTGCCGCTGAGATCAGGCAGTCCTTG
AGGATAGACAGATATACACACCACACACACACACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAG
CTGGACTTTTATTTAAAAAAAAAAAAAAAAAAGGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATT
GATCATATATTTTGACAAAATATATTTATAACTACGTATTAAAAGAAAAAAATAAAATGAGTCATTATTTTAAAGGT


Protein Sequence     (SEQ ID NO:345):
MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIH
STGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLL
DTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEM
VVEGCGCR*



SNP Information


Context              (SEQ ID NO:1602):
GCCTTCTACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCA
S
TATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATG
Celera SNP ID:                hCV29213862
SNP Position Transcript:      1357
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:345, 367,(S,AGT) (T,ACT)



Context              (SEQ ID NO:1603):
GAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGT
S
TGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAA
Celera SNP ID:                hCV29213865
SNP Position Transcript:      529
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:345, 91,(S,TCT) (C,TGT)



Context              (SEQ ID NO:1604):
GCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGG
R
CCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTT
Celera SNP ID:                hCV29213864
SNP Position Transcript:      930
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:345, 225,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1605):
AGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTCAGCAGCATCCCTGAGAACGAGG
Y
GATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATTTATGAGGTTATGAAG
Celera SNP ID:                hCV9597660
SNP Position Transcript:      712
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,114|C,70) ; no_pop(T,172|C,82) ; no_pop(T,94|C,146)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:345, 152,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1606):
GAAGGAAGTGGCGGGGGAAGGA
S
TGTGGTGGTGGTTTAAAAAATAAGGGAAGCCGAGGCGAGAGAGACGCAGACGCAGAGGTCGAGCGCAGGCCGAAAGCTGTTCACCGTTTTCTCGACTCCG
Celera SNP ID:                hCV15930512
SNP Position Transcript:      23
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:345, None



Context              (SEQ ID NO:1607):
TGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACC
Y
GGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACC
Celera SNP ID:                hCV29213863
SNP Position Transcript:      933
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:345, 226,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1608):
CACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAA
W
GGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAAC
Celera SNP ID:                hCV26728029
SNP Position Transcript:      1632
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:345, None



Context              (SEQ ID NO:1609):
ACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAA
W
GAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACT
Celera SNP ID:                hCV11928006
SNP Position Transcript:      1633
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:345, None



Gene Number:                  37
Celera Gene:                  hCG20967 - 84000314848978
Celera Transcript:            hCT2328374 - 84000314849003
Public Transcript Accession:  NM_001202
Celera Protein:               hCP1866796 - 197000069389930
Public Protein Accession:     NP_001193
Gene Symbol:                  BMP4
Protein Name:                  bone morphogenetic protein 4
Celera Genomic Axis:          GA_x5YUV32W0QP(1214728..1235752)
Chromosome:                   14
OMIM NUMBER:                  112262
OMIM Information:


Transcript Sequence  (SEQ ID NO:85):
TGCTAAAGGAGCACAATGCCTGATGCTGCAGGAGAAACATTAGGAGCCATTCCGTAGTGCCATCCCGAGCAACGCACTGCTGCAGCTTCCCTGAGCCTTT
CCAGCAAGTTTGTTCAAGATTGGCTGTCAAGAATCATGGACTGTTATTATATGCCTTGTTTTCTGTCAAGACACCATGATTCCTGGTAACCGAATGCTGA
TGGTCGTTTTATTATGCCAAGTCCTGCTAGGAGGCGCGAGCCATGCTAGTTTGATACCTGAGACGGGGAAGAAAAAAGTCGCCGAGATTCAGGGCCACGC
GGGAGGACGCCGCTCAGGGCAGAGCCATGAGCTCCTGCGGGACTTCGAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAG
AGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGC
GCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTT
TAACCTCAGCAGCATCCCTGAGAACGAGGTGATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTC
CACCGTATAAACATTTATGAGGTTATGAAGCCCCCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATG
TGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCA
TCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACCTCAAGGGAGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCACCTTT
GGCCATGATGGCCGGGGCCATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCACTCACAGCGGGCCAGGAAGAAGAATAAGAACTGCC
GGCGCCACTCGCTCTATGTGGACTTCAGCGATGTGGGCTGGAATGACTGGATTGTGGCCCCACCAGGCTACCAGGCCTTCTACTGCCATGGGGACTGCCC
CTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCAGTATCCCCAAAGCCTGTTGTGTGCCC
ACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATGGTAGTAGAGGGATGTGGGTGCCGCT
GAGATCAGGCAGTCCTTGAGGATAGACAGATATACACACCACACACACACACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACA
CAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAAGGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGC
AAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACTACGTATTAAAAGAAAAAAATAAAATGAGTCATTATTTTAAAGGT


Protein Sequence     (SEQ ID NO:346):
MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIH
STGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLL
DTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEM
VVEGCGCR*



SNP Information


Context              (SEQ ID NO:1610):
GCCTTCTACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCA
S
TATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATG
Celera SNP ID:                hCV29213862
SNP Position Transcript:      1275
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:346, 367,(S,AGT) (T,ACT)



Context              (SEQ ID NO:1611):
GAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGT
S
TGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAA
Celera SNP ID:                hCV29213865
SNP Position Transcript:      447
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:346, 91,(S,TCT) (C,TGT)



Context              (SEQ ID NO:1612):
GCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGG
R
CCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTT
Celera SNP ID:                hCV29213864
SNP Position Transcript:      848
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:346, 225,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1613):
AGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTCAGCAGCATCCCTGAGAACGAGG
Y
GATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATTTATGAGGTTATGAAG
Celera SNP ID:                hCV9597660
SNP Position Transcript:      630
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,114|C,70) ; no_pop(T,172|C,82) ; no_pop(T,94|C,146)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:346, 152,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1614):
TGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACC
Y
GGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACC
Celera SNP ID:                hCV29213863
SNP Position Transcript:      851
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:346, 226,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1615):
CACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAA
W
GGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAAC
Celera SNP ID:                hCV26728029
SNP Position Transcript:      1550
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:346, None



Context              (SEQ ID NO:1616):
ACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAA
W
GAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACT
Celera SNP ID:                hCV11928006
SNP Position Transcript:      1551
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:346, None



Gene Number:                  37
Celera Gene:                  hCG20967 - 84000314848978
Celera Transcript:            hCT2328377 - 84000314848995
Public Transcript Accession:  NM_001202
Celera Protein:               hCP1866795 - 197000069389929
Public Protein Accession:     NP_001193
Gene Symbol:                  BMP4
Protein Name:                  bone morphogenetic protein 4
Celera Genomic Axis:          GA_x5YUV32W0QP(1214728..1235752)
Chromosome:                   14
OMIM NUMBER:                  112262
OMIM Information:


Transcript Sequence  (SEQ ID NO:86):
GAGGGAGGGGCCGCCGGGGAAGAGGAGGAGGAAGGAAAGAAAGAAAGCGAGGGAGGGAAAGAGGAGGAAGGAAGATGCGAGAAGGCAGAGGAGGAGGGAG
GGAGGGAAGGAGCGCGGAGCCCGGCCCGGAAGCTAGGAGCCATTCCGTAGTGCCATCCCGAGCAACGCACTGCTGCAGCTTCCCTGAGCCTTTCCAGCAA
GTTTGTTCAAGATTGGCTGTCAAGAATCATGGACTGTTATTATATGCCTTGTTTTCTGTCAAGACACCATGATTCCTGGTAACCGAATGCTGATGGTCGT
TTTATTATGCCAAGTCCTGCTAGGAGGCGCGAGCCATGCTAGTTTGATACCTGAGACGGGGAAGAAAAAAGTCGCCGAGATTCAGGGCCACGCGGGAGGA
CGCCGCTCAGGGCAGAGCCATGAGCTCCTGCGGGACTTCGAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCG
TCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGC
CAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTC
AGCAGCATCCCTGAGAACGAGGTGATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTA
TAAACATTTATGAGGTTATGAAGCCCCCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACG
GTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACT
CGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACCTCAAGGGAGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCACCTTTGGCCATG
ATGGCCGGGGCCATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCACTCACAGCGGGCCAGGAAGAAGAATAAGAACTGCCGGCGCCA
CTCGCTCTATGTGGACTTCAGCGATGTGGGCTGGAATGACTGGATTGTGGCCCCACCAGGCTACCAGGCCTTCTACTGCCATGGGGACTGCCCCTTTCCA
CTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCAGTATCCCCAAAGCCTGTTGTGTGCCCACTGAAC
TGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATGGTAGTAGAGGGATGTGGGTGCCGCTGAGATCA
GGCAGTCCTTGAGGATAGACAGATATACACACCACACACACACACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTG
CTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAAGGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTT
TTGACCATATTGATCATATATTTTGACAAAATATATTTATAACTACGTATTAAAAGAAAAAAATAAAATGAGTCATTATTTTAAAGGT


Protein Sequence     (SEQ ID NO:347):
MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIH
STGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLL
DTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEM
VVEGCGCR*



SNP Information


Context              (SEQ ID NO:1617):
GCCTTCTACTGCCATGGGGACTGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTGGTCAATTCTGTCAATTCCA
S
TATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCCATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATG
Celera SNP ID:                hCV29213862
SNP Position Transcript:      1368
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:347, 367,(S,AGT) (T,ACT)



Context              (SEQ ID NO:1618):
GAGGCGACACTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCGGACTACATGCGGGATCTTTACCGGCTTCAGT
S
TGGGGAGGAGGAGGAAGAGCAGATCCACAGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTCCACCACGAAGAA
Celera SNP ID:                hCV29213865
SNP Position Transcript:      540
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:347, 91,(S,TCT) (C,TGT)



Context              (SEQ ID NO:1619):
GCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGG
R
CCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTT
Celera SNP ID:                hCV29213864
SNP Position Transcript:      941
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:347, 225,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1620):
AGCTTCCACCACGAAGAACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTCCTCTTTAACCTCAGCAGCATCCCTGAGAACGAGG
Y
GATCTCCTCTGCAGAGCTTCGGCTCTTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATTTATGAGGTTATGAAG
Celera SNP ID:                hCV9597660
SNP Position Transcript:      723
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,114|C,70) ; no_pop(T,172|C,82) ; no_pop(T,94|C,146)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:347, 152,(V,GTG) (A,GCG)



Context              (SEQ ID NO:1621):
TGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCGGTCCTTCGCTGGACC
Y
GGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCACCTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACC
Celera SNP ID:                hCV29213863
SNP Position Transcript:      944
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:347, 226,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1622):
CACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAA
W
GGAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAAC
Celera SNP ID:                hCV26728029
SNP Position Transcript:      1643
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,4|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:347, None



Context              (SEQ ID NO:1623):
ACCACATACACCACACACACACGTTCCCATCCACTCACCCACACACTACACAGACTGCTTCCTTATAGCTGGACTTTTATTTAAAAAAAAAAAAAAAAAA
W
GAAAAAATCCCTAAACATTCACCTTGACCTTATTTATGACTTTACGTGCAAATGTTTTGACCATATTGATCATATATTTTGACAAAATATATTTATAACT
Celera SNP ID:                hCV11928006
SNP Position Transcript:      1644
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:347, None



Gene Number:                  38
Celera Gene:                  hCG21349 - 114000133373538
Celera Transcript:            hCT12437 - 114000133373539
Public Transcript Accession:  NM_032268
Celera Protein:               hCP38909 - 197000069427373
Public Protein Accession:     NP_115644
Gene Symbol:                  ZNRF1
Protein Name:                  zinc and ring finger protein 1
Celera Genomic Axis:          GA_x5YUV32W3V0(13093928..13217771)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:87):
TGGCGGGGCCGGCGGCGGCTGAAGCGAGAGCGCGACGCGACGCGACCGCGGCTTCCCGAGCTGCGCCTGGCCGCCCAGCGCCGCGGCCCGCCCGAGGCCT
GGAGGGGTCCGGGCCGCCGTCCATGGTCGCGGCGTCCTGAGGCGGGGGACGCGCCCGGCGCCCCCGGCCCTCCTCCGCCTCCTCCCGCGGGGCGGGCGGC
CTCCTCCGGCGCCTCCCCGCGCCCGCCCGCCGCTCGCCGCCGCCTCCCTCCCTCCTTCCCTGCGGCTCCCCCGGCTTTCGGAGCCCGGGGGCGGCCTGTG
GCGCGCGGAGCCCGCGCCGGACTGCGCCTCTTTGGACCTTGAGGGGAAACATGCGTTTGCCTTGGATCGTTTGAAATTCTGAGTTTTTCCTTTTGCTTTT
TTTCCTTTTCTCCCTCCGGGTCTCCTTTTTGACTCCCTCCCCCTTTATGCTCGCCCAGCCCTCCCCCTGCTGCTGAGAAGTGGGGGAGGGTCTCGGCCTC
CAGGTTCCCGCCCCACCGGGGCCCGGGCGAGCATGGGGGGCAAGCAGAGCACGGCGGCCCGCTCCCGGGGCCCCTTCCCGGGGGTCTCCACCGATGACAG
CGCCGTGCCGCCGCCGGGAGGGGCGCCCCATTTCGGGCACTACCGGACGGGCGGCGGGGCCATGGGGCTGCGCAGCCGCTCGGTCAGCTCGGTGGCAGGC
ATGGGCATGGACCCCAGCACGGCCGGGGGGGTGCCCTTTGGCCTCTACACCCCCGCCTCCCGGGGCACCGGCGACTCCGAGAGGGCGCCCGGCGGCGGAG
GGTCTGCGTCCGACTCCACCTATGCCCATGGCAATGGTTACCAGGAGACGGGCGGCGGTCACCATAGAGACGGGATGCTGTACCTGGGCTCCCGAGCCTC
GCTGGCGGATGCTCTACCTCTGCACATCGCACCCAGGTGGTTCAGCTCGCATAGTGGTTTCAAGTGCCCCATTTGCTCCAAGTCTGTGGCTTCTGACGAG
ATGGAAATGCACTTTATAATGTGTTTGAGCAAACCTCGCCTCTCCTACAACGATGATGTGCTGACTAAAGACGCGGGTGAGTGTGTGATCTGCCTGGAGG
AGCTGCTGCAGGGGGACACGATAGCCAGGCTGCCCTGCCTGTGCATCTATCACAAAAGCTGCATAGACTCGTGGTTTGAAGTGAACAGATCTTGTCCGGA
ACACCCTGCGGACTGACCTGCGGGCTTGCTTGCTGACTCCTCTCAAAGGGACAGAGCGCCCCTGCTCCAGGGAGGAGGCTCACCGGACCCTGGGGCAGAG
CTGAGCTTGGGACACCAGCGGGAACAGGGCACCCCTTCTGCACTGACTTCCAGATCATGGTTCTCCCTTCCTCCCTGAGGACACCAAATTGGATGAGAGC
AAGTTTGAGAGAAGAATGAATCAACTGCTATCCTTCCCCTCACCCCTCAGCCCAGGAGGGAAAGGGCATTTTCTTTTTCATCTTTGAAAGGCATTGTGGG
TCTGTCTTTAAAGTGTTTACAAAAAAAAATTATATAAAAAAAAAGTCTAGTGTCGACTGGTGTTTTCCCTCGTGATGTTTACAGCTTGCTGTTTGCTGCC
CAGCCATAACCCACTCAGTGACAGACGAACACAGCTAAGGCCTCGCTGCCAGCCTTCTGACGGCGGGCGAGCACACGGTCTCTTCCCCTGCCCCAACTGG
CCCTCTCCACCACCAACTTCTCTACTTTGGGTTTGTTTGGTTTTTTCCCTCTATTTTTCTGGCTGGTTTTTTGCTCTTTTCTCCCCTTGAGACCCTAATA
TCTTGACTTCATTGCCAAAAAACAACCCATTGAGAACTTTCTTCCTACTGATCCCATCTCTTTTCCCTTCTTTCCTCCTGGTTCCGGTCAGTTCAGAGGA
TTTAACAATCACAAGTGTCCTGCAAAAATGCCTGAACATTATTCTTAGGCCCTCGTGGATTTTTTTTTTCAGAAAACTTAAACAAAAAAAGACTTACTAA
GAAATATGTACAGCTACCCCTGTTTTCAGGCACTATGTTTGAGAACATTTTAGCCATTGATGTTCACACGTGGCATCAGCCCATGCAAGATAGGTTTCTG
TATTTATATATTAAAATACAAAAAAAAACTTATAAAATGTTTAAAAAAATGTTCAAAGCTTGGGAGAAAAGCTTTCTTCATTAGTCAAGGTGTTTTGATA
TGGTATTAAAATGTCTAATAAAAGATGGCACTGCGTGATTTTATTTTAATGAAGTGTTATACAATCAAGAAATGGGGGCAAGGGCCTGCCCCCCACTCCC
TCACCTACCTCCTTAGCATTCCTTCAGGCTGCTACTCGGGGCTCCAGGTGTGTGAATTGGTCCTCAGATAGTCAGGCCTGGGTGGAGGGAGTGGCAAGTC
AGGCGTGCCTCCTACAAGCTTCCTAACCTCTTAAGCATCATGGAACCAGTCAGCCCTCTGTGGAGTCATTGTGCCGGACCTCTGAAAAGATCTGCAGGGG
CCAAGATGTTGCAGCCACCGGAGGCTGCAAGGATGTGGGTTCTTCCAGGTGTGGGCCCAGCCCCCCTCCTTCCAGCCTTTGCTCCCCATCCCACGTTCCA
CTCGCCCTGCCTGTTGTTCAGTTTGCGTCTCAGTGCTGACTCACGGGCATGCTTCATTGAGGCCCAGGAAGAGGCCCTGGTTTGGGGCTGTGCCAGCTCA
GAGCCCTTGAACCAGAACCAACTGCTCAGGCTCACAAAAGTTGGCAAAATGCGGGCTGGGCAGGCAGCTCGGGGCAGGGAGCAGCAGTGCAGGCCTGGCC
TGTGTCCCCGTGCCCAGCGGGCTCCCGGAGCAGCATTCCAGAGCCTCCTGCAGAGCCAGCGAAGGAAAGCTCTAGAGGGAGACGACTCCACCGCCTCTCT
GCTCTGACCCTTCTCAGGCCCGCCTGATGTGCTGGACCATCCCCCTGCTGCCACGGCCCCTGGCTCCGCAGTCACCCTCCATCAGATGCTTCCAGAAGCA
CCTACTCTGTGCAAGGGCATTCACAACAGGCCAGTGGGCAAACGTGAGCCAGGGCCAGCGGAGAAACACTAAAGAAGACTCGGTGGTTCAGAGCCTGGGT
CTCAGCGCGGGACCCGTCTGGGGTGAAGACCTTGGGGCTGTTGTGAGTCGGTGGCAGGAACGTGGGCTCTAGACTGTGCATTCAGGCTCTCCTACTTGGC
AGAATGATCTTGGGGAAACGACTTCATCTGAACTTCAGATATTTCACATGTGAAGCGGGGACAAAACCATGCAGCTCAGAGGTCCCTGTGGGGGCTGGGG
GAGCTGCCCTGCAGGTCTTGGCACATGCACAGCAGGCTCCCCATAGCTTTGTCACCACAAAGGGCACTGTTCTATTCACAGCACCTCCTGCTTCTGCCTG
GCAACTGTGTCTCCCTGTGCTATATTTAATTCCACCAGCAAAGCTGGCGAGGCAGGGCCCAGCCCTGAAGGAGATCTCCTTGCCTGACCCCTGGACCTGG
AAATGGAGGCTTCATGTGCCCGCCTTGGCGGCTTAAGCCTGCTGCTTTGGCAGTGCCATGGGTGAGCCGAGCAGCTGTGAGGTGGGTGGGGCAGGGCTGT
AGCCCACGCCGGGTGCTATTCCAGGCTCTAGGGGCTGGTGCTCATCCCCACCCCCAGCGACTTCCGTCCTACCTGGCATGCTGCAGCCCTCTGCCGGCTG
TGGTGTCCTCTGAATTTGGACCCAGGTTGCCTGCTCTTGTTGTGGGGGTGGGATTGGGGCTGTCTGTGTTTCCCAGGTGGAGCTCATGTTTGTGATCCTC
TATCTGGACAGCTCTCCAGAATCCTGTGTTGCCCCTGTTCTGCCTTTCTGGGATGGGAGAGAAGGTGAGGGAGCCGGCGAGCAGGTTCTACCCTCTCTGC
TAAGGGCCTAGCACGCTTTGATGAGGTTCCTGGACGTGAGACCCTCACAAAGACCAACCATTCCTCTAATAGCCATTTAACGGTACTGCAGTTCATGGGA
AAATGTCCTCATTCTTAGGAGATAGATGCTGGATTATATAGGTGAATGCCTTCAAGAAATGTGTAATTTAATTCCAAATAGTTCCCCCCAAAATACACAA
AGCAAATAAGGCCAAAATGTTCATTGTTGAATCTGCAGTGGCTGGTATTTCAGTGAACAGTGTACTTGTTCTTTCAACTTTTCTGTATGTTTGGAATTTT
TCTTAATAAAAGATTGTGGGAAATGGTCATTTGCTGAGCGCCTCCTAGTTGCCAGGCACTGGAGGGCGCATCAAAGAAGAGTCCTACCCAGGAGGGAGAG
CGCAGCTGCTGCAGGATTCTCGCCTGGAAGAGTGGGTGGCTGGCTGGCTGGCTGGAAGGGGAGGGGCGAGAGGGCTGTCTCGGTGATGAGCACACGCGTG
CTGGGGTGGTTTGGGGAGAGGGCTGAGATTTGTCACCAGTGAGCCCTTGGCACGGTCTCTGCTCCCCACCAGGGCAGCACGGGACAGAAACGTCACGGAG
GAGTAGCCTC


Protein Sequence     (SEQ ID NO:348):
MGGKQSTAARSRGPFPGVSTDDSAVPPPGGAPHFGHYRTGGGAMGLRSRSVSSVAGMGMDPSTAGGVPFGLYTPASRGTGDSERAPGGGGSASDSTYAHG
NGYQETGGGHHRDGMLYLGSRASLADALPLHIAPRWFSSHSGFKCPICSKSVASDEMEMHFIMCLSKPRLSYNDDVLTKDAGECVICLEELLQGDTIARL
PCLCIYHKSCIDSWFEVNRSCPEHPAD*



SNP Information


Context              (SEQ ID NO:1624):
TCTTTCCTCCTGGTTCCGGTCAGTTCAGAGGATTTAACAATCACAAGTGTCCTGCAAAAATGCCTGAACATTATTCTTAGGCCCTCGTGGATTTTTTTTT
T
CAGAAAACTTAAACAAAAAAAGACTTACTAAGAAATATGTACAGCTACCCCTGTTTTCAGGCACTATGTTTGAGAACATTTTAGCCATTGATGTTCACAC
Celera SNP ID:                hCV26763468
SNP Position Transcript:      1969
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,10|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Context              (SEQ ID NO:1625):
GGCCTGGGTGGAGGGAGTGGCAAGTCAGGCGTGCCTCCTACAAGCTTCCTAACCTCTTAAGCATCATGGAACCAGTCAGCCCTCTGTGGAGTCATTGTGC
Y
GGACCTCTGAAAAGATCTGCAGGGGCCAAGATGTTGCAGCCACCGGAGGCTGCAAGGATGTGGGTTCTTCCAGGTGTGGGCCCAGCCCCCCTCCTTCCAG
Celera SNP ID:                hCV29226195
SNP Position Transcript:      2475
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Context              (SEQ ID NO:1626):
GCAGGCAGCTCGGGGCAGGGAGCAGCAGTGCAGGCCTGGCCTGTGTCCCCGTGCCCAGCGGGCTCCCGGAGCAGCATTCCAGAGCCTCCTGCAGAGCCAG
Y
GAAGGAAAGCTCTAGAGGGAGACGACTCCACCGCCTCTCTGCTCTGACCCTTCTCAGGCCCGCCTGATGTGCTGGACCATCCCCCTGCTGCCACGGCCCC
Celera SNP ID:                hCV2847107
SNP Position Transcript:      2860
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,8|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Context              (SEQ ID NO:1627):
CTCATGTTTGTGATCCTCTATCTGGACAGCTCTCCAGAATCCTGTGTTGCCCCTGTTCTGCCTTTCTGGGATGGGAGAGAAGGTGAGGGAGCCGGCGAGC
M
GGTTCTACCCTCTCTGCTAAGGGCCTAGCACGCTTTGATGAGGTTCCTGGACGTGAGACCCTCACAAAGACCAACCATTCCTCTAATAGCCATTTAACGG
Celera SNP ID:                hCV2847106
SNP Position Transcript:      3883
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,290|C,270) ; no_pop(A,6|C,1) ; no_pop(A,-|C,-) ; no_pop(A,51|
C,67)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Context              (SEQ ID NO:1628):
TCCAGAATCCTGTGTTGCCCCTGTTCTGCCTTTCTGGGATGGGAGAGAAGGTGAGGGAGCCGGCGAGCAGGTTCTACCCTCTCTGCTAAGGGCCTAGCAC
R
CTTTGATGAGGTTCCTGGACGTGAGACCCTCACAAAGACCAACCATTCCTCTAATAGCCATTTAACGGTACTGCAGTTCATGGGAAAATGTCCTCATTCT
Celera SNP ID:                hCV9603104
SNP Position Transcript:      3915
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,11|G,81) ; no_pop(A,-|G,-) ; no_pop(A,344|G,1016) ; no_pop(A,
16|G,104)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Context              (SEQ ID NO:1629):
GTTCCTGGACGTGAGACCCTCACAAAGACCAACCATTCCTCTAATAGCCATTTAACGGTACTGCAGTTCATGGGAAAATGTCCTCATTCTTAGGAGATAG
W
TGCTGGATTATATAGGTGAATGCCTTCAAGAAATGTGTAATTTAATTCCAAATAGTTCCCCCCAAAATACACAAAGCAAATAAGGCCAAAATGTTCATTG
Celera SNP ID:                hCV2847105
SNP Position Transcript:      4026
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,86|T,6) ; no_pop(A,7|T,1) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:348, None



Gene Number:                  39
Celera Gene:                  hCG21352 - 114000133367483
Celera Transcript:            hCT12440 - 114000133367484
Public Transcript Accession:  NM_153486
Celera Protein:               hCP38912 - 197000069427429
Public Protein Accession:     NP_705690
Gene Symbol:                  LDHD
Protein Name:                  lactate dehydrogenase D
Celera Genomic Axis:          GA_x5YUV32W3V0(13088125..13105065)
Chromosome:                   16
OMIM NUMBER:                  607490
OMIM Information:


Transcript Sequence  (SEQ ID NO:88):
AGCAGTAGCTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCA
ACCTGGGAGCTGTTCCCCTGGAGGGGCTACTGCTCCCAGAAGGCAAAGGGAGAGCTCTGCAGGGACTTCGTAGAGGCTCTGAAGGCCGTGGTGGGCGGCT
CCCACGTGTCCACTGCCGCGGTGGTCCGAGAGCAGCACGGGCGCGATGAGTCGGTGCACAGGTGCGAACCTCCTGATGCTGTGGTGTGGCCCCAGAACGT
GGAGCAGGTCAGCCGGCTGGCAGCCCTGTGCTATCGCCAAGGTGTGCCCATCATCCCATTCGGCACCGGCACCGGGCTTGAGGGTGGCGTCTGTGCTGTG
CAGGGCGGCGTCTGCGTTAACCTGACGCATATGGACCGAATCCTGGAGCTGAACCAGGAGGACTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAG
CCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCCAGGCGCGGACGCCTCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGAC
CAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGGTGGTGCTGCCCGACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCAT
TTCCGGAAGAGTGCAGCCGGCTACAACCTCACGGGGCTCTTCGTGGGCTCCGAGGGGACGCTGGGCCTCATCACAGCCACCACCCTGCGCCTGCACCCTG
CCCCTGAGGCCACAGTGGCCGCCACGTGTGCGTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACATCCTCCAGGCTGCAGTGCCCGTAGCCCG
CATTGAGTTCCTGGATGAAGTCATGATGGATGCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCACACTCTTCCTGGAGTTCCATGGCTCC
CAGCAGGCACTGGAGGAGCAGCTGCAGCGCACAGAGGAGATAGTCCAGCAGAACGGAGCCTCTGACTTCTCCTGGGCCAAGGAGGCCGAGGAGCGCAGCC
GGCTTTGGACAGCACGGCACAATGCCTGGTACGCAGCCCTGGCCACGCGGCCAGGCTGCAAGGCAGGGGTAACTCATAGGCTTCCCTCTGACCAGGGCTA
CTCCACGGATGTGTGTGTGCCCATCTCCCGGCTGCCGGAGATCGTGGTGCAGACCAAGGAGGATCTGAATGCCTCAGGACTCACAGGAAGCATTGTCGGG
CATGTGGGTGACGGCAACTTCCACTGCATCCTGCTGGTCAACCCTGATGACGCCGAGGAACTGGGCAGGGTCAAGGCTTTTGCAGAACAGCTGGGCAGGC
GGGCACTGGCTCTCCACGGAACGTGCACGGGGGAGCATGGCATCGGAATGGGCAAGCGGCAGCTGCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGAC
CATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAGGCCTCATGAATCCAGGCAAAGTGCTGTGAAGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGAC
TACGGAGCCGGTTCTGGAACTTTTCTTCATGCCACGGCCCCTGCAAGGAAATAGATGCTGAGGCAGTCTTCCTGCCAGCGAGCCCACTGTATCTGGGCCC
AAGGCCAGAGGGCCCAGAGAGAAGCCTGAGCACCGTGTTACCTCCCTGGCCCTCTGGCTGGCCCCAGGAGCCTTTGGTTCAGTAAACGACCCAGGGTGGT
TCCCAGCAAAGCTGCTTCCTCTCTGCTCCTACGCATCCTGTCCTGGCGGGAAGAGAGCGTCTGGGTCCATTCAAGACTCTGATGACACCCCTCCCCGAGG
CCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACATGATGATAGG
TCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC


Protein Sequence     (SEQ ID NO:349):
MARLLRSATWELFPWRGYCSQKAKGELCRDFVEALKAVVGGSHVSTAAVVREQHGRDESVHRCEPPDAVVWPQNVEQVSRLAALCYRQGVPIIPFGTGTG
LEGGVCAVQGGVCVNLTHMDRILELNQEDFSVVVEPGVTRKALNAHLRDSGLWFPVDPGADASLCGMAATGASGTNAVRYGTMRDNVLNLEVVLPDGRLL
HTAGRGRHFRKSAAGYNLTGLFVGSEGTLGLITATTLRLHPAPEATVAATCAFPSVQAAVDSTVHILQAAVPVARIEFLDEVMMDACNRYSKLNCLVAPT
LFLEFHGSQQALEEQLQRTEEIVQQNGASDFSWAKEAEERSRLWTARHNAWYAALATRPGCKAGVTHRLPSDQGYSTDVCVPISRLPEIVVQTKEDLNAS
GLTGSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQLGRRALALHGTCTGEHGIGMGKRQLLQEEVGAVGVETMRQLKAVLDPQGLMNPGKVL*



SNP Information


Context              (SEQ ID NO:1630):

R

Celera SNP ID:                hCV2847101
SNP Position Transcript:
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,1)
SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:349, None



Context              (SEQ ID NO:1631):
ATGCCTCAGGACTCACAGGAAGCATTGTCGGGCATGTGGGTGACGGCAACTTCCACTGCATCCTGCTGGTCAACCCTGATGACGCCGAGGAACTGGGCAG
S
GTCAAGGCTTTTGCAGAACAGCTGGGCAGGCGGGCACTGGCTCTCCACGGAACGTGCACGGGGGAGCATGGCATCGGAATGGGCAAGCGGCAGCTGCTGC
Celera SNP ID:                hCV25942304
SNP Position Transcript:      1369
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:349, 431,(R,AGG) (S,AGC)



Context              (SEQ ID NO:1632):
CAGCCACCACCCTGCGCCTGCACCCTGCCCCTGAGGCCACAGTGGCCGCCACGTGTGCGTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACAT
Y
CTCCAGGCTGCAGTGCCCGTAGCCCGCATTGAGTTCCTGGATGAAGTCATGATGGATGCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCA
Celera SNP ID:                hCV25938258
SNP Position Transcript:      874
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,31)  total(T,1|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:349, 266,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1633):
AGCAGTAGCTGCTGCCACAGTAGCTGACTG
K
TCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGAGCTGTTCCCCTGGAGGGGCTACT
Celera SNP ID:                hCV31575429
SNP Position Transcript:      31
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:349, None



Context              (SEQ ID NO:1634):
AGCAGTA
K
CTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGA
Celera SNP ID:                hCV25933065
SNP Position Transcript:      8
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,38)  african american(T,2|G,32)  total(T,2|G,70)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:349, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:349, None



Context              (SEQ ID NO:1635):
TGAACCAGGAGGACTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAGCCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCC
R
GGCGCGGACGCCTCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGACCAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGG
Celera SNP ID:                hCV25931860
SNP Position Transcript:      550
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,2|A,32)  total(G,2|A,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:349, 158,(P,CCA) (P,CCG)



Context              (SEQ ID NO:1636):
ATGGCATCGGAATGGGCAAGCGGCAGCTGCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGACCATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAGG
Y
CTCATGAATCCAGGCAAAGTGCTGTGAAGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGACTACGGAGCCGGTTCTGGAACTTTTCTTCATGCCACGG
Celera SNP ID:                hCV25943401
SNP Position Transcript:      1537
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,0|C,28)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:349, 487,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1637):
CCTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGAC
A
TGATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763443
SNP Position Transcript:      1990
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:349, None



Context              (SEQ ID NO:1638):
CTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACA
T
GATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763444
SNP Position Transcript:      1991
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:349, None



Context              (SEQ ID NO:1639):
TCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACAT
G
ATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763445
SNP Position Transcript:      1992
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:349, None



Gene Number:                  39
Celera Gene:                  hCG21352 - 114000133367483
Celera Transcript:            hCT2252800 - 114000133367499
Public Transcript Accession:  NM_153486
Celera Protein:               hCP1884166 - 197000069427430
Public Protein Accession:     NP_705690
Gene Symbol:                  LDHD
Protein Name:                  lactate dehydrogenase D
Celera Genomic Axis:          GA_x5YUV32W3V0(13088125..13105065)
Chromosome:                   16
OMIM NUMBER:                  607490
OMIM Information:


Transcript Sequence  (SEQ ID NO:89):
AGCAGTAGCTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCA
ACCTGGGAGCTGTTCCCCTGGAGGGGCTACTGCTCCCAGAAGGCAAAGGGAGAGCTCTGCAGGGACTTCGTAGAGGCTCTGAAGGCCGTGGTGGGCGGCT
CCCACGTGTCCACTGCCGCGGTGGTCCGAGAGCAGCACGGGCGCGATGAGTCGGTGCACAGGTGCGAACCTCCTGATGCTGTGGTGTGGCCCCAGAACGT
GGAGCAGGTCAGCCGGCTGGCAGCCCTGTGCTATCGCCAAGGGCGGCGTCTGCGTTAACCTGACGCATATGGACCGAATCCTGGAGCTGAACCAGGAGGA
CTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAGCCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCCAGGCGCGGACGCC
TCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGACCAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGGTGGTGCTGCCCG
ACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCATTTCCGGTGAGCGCCCTCTGCGGGGGGCCCGGGCTCTGGCCCTGGGCACTGCTGGCGGGCTGC
CCTGCAGAGACCGGGCTGTGAAAAGCACCTCCTGGCGGCCCCCTGGTTTGGCAGGCTAGGCTTCCTCAGGCTCTGAAGCCCTGTCAGCTGGGCCAAAGTG
GATGGGACCAGGGTTTGCTCTCCCTGCCTGAGGCCGACTGGCTTTGTGGAGCAGAAAGCACTGGGCCAGGGAAACTGGGCCCGAGGGAGGCCAGCCCAGA
CCTCAGTGCCTGGGGTCGGTGTCTTGGGTTCCAGCTTCGGCTTCTGGCCAGAAATCCCTCATCACACAGCCTGGTACTCACCTTGTGTGTCCCTGGGACG
TAGGAAGAGTGCAGCCGGCTACAACCTCACGGGGCTCTTCGTGGGCTCCGAGGGGACGCTGGGCCTCATCACAGCCACCACCCTGCGCCTGCACCCTGCC
CCTGAGGCCACAGTGGCCGCCACGTGTGCGTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACATCCTCCAGGCTGCAGTGCCCGTAGCCCGCA
TTGAGTTCCTGGATGAAGTCATGATGGATGCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCACACTCTTCCTGGAGTTCCATGGCTCCCA
GCAGGCACTGGAGGAGCAGCTGCAGCGCACAGAGGAGATAGTCCAGCAGAACGGAGCCTCTGACTTCTCCTGGGCCAAGGAGGCCGAGGAGCGCAGCCGG
CTTTGGACAGCACGGCACAATGCCTGGTACGCAGCCCTGGCCACGCGGCCAGGCTGCAAGGGCTACTCCACGGATGTGTGTGTGCCCATCTCCCGGCTGC
CGGAGATCGTGGTGCAGACCAAGGAGGATCTGAATGCCTCAGGACTCACAGGAAGCATTGTCGGGCATGTGGGTGACGGCAACTTCCACTGCATCCTGCT
GGTCAACCCTGATGACGCCGAGGAACTGGGCAGGGTCAAGGCTTTTGCAGAACAGCTGGGCAGGCGGGCACTGGCTCTCCACGGAACGTGCACGGGGGAG
CATGGCATCGGAATGGGCAAGCGGCAGCTGCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGACCATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAG
GCCTCATGAATCCAGGCAAAGTGCTGTGAAGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGACTACGGAGCCGGTTCTGGAACTTTTCTTCATGCCAC
GGCCCCTGCAAGGAAATAGATGCTGAGGCAGTCTTCCTGCCAGCGAGCCCACTGTATCTGGGCCCAAGGCCAGAGGGCCCAGAGAGAAGCCTGAGCACCG
TGTTACCTCCCTGGCCCTCTGGCTGGCCCCAGGAGCCTTTGGTTCAGTAAACGACCCAGGGTGGTTCCCAGCAAAGCTGCTTCCTCTCTGCTCCTACGCA
TCCTGTCCTGGCGGGAAGAGAGCGTCTGGGTCCATTCAAGACTCTGATGACACCCCTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCT
TCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACATGATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAA
TAAACCTGAAACCCACCTACAGCTACC


Protein Sequence     (SEQ ID NO:350):
MMDACNRYSKLNCLVAPTLFLEFHGSQQALEEQLQRTEEIVQQNGASDFSWAKEAEERSRLWTARHNAWYAALATRPGCKGYSTDVCVPISRLPEIVVQT
KEDLNASGLTGSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQLGRRALALHGTCTGEHGIGMGKRQLLQEEVGAVGVETMRQLKAVLDPQGLMNPGK
VL*



SNP Information


Context              (SEQ ID NO:1640):
TCAGTGCCTGGGGTCGGTGTCTTGGGTTCCAGCTTCGGCTTCTGGCCAGAAATCCCTCATCACACAGCCTGGTACTCACCTTGTGTGTCCCTGGGACGTA
R
GAAGAGTGCAGCCGGCTACAACCTCACGGGGCTCTTCGTGGGCTCCGAGGGGACGCTGGGCCTCATCACAGCCACCACCCTGCGCCTGCACCCTGCCCCT
Celera SNP ID:                hCV2847101
SNP Position Transcript:      1003
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1641):
CTGGAGGTGGTGCTGCCCGACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCATTTCCGGTGAGCGCCCTCTGCGGGGGGCCCGGGCTCTGGCCCTG
R
GCACTGCTGGCGGGCTGCCCTGCAGAGACCGGGCTGTGAAAAGCACCTCCTGGCGGCCCCCTGGTTTGGCAGGCTAGGCTTCCTCAGGCTCTGAAGCCCT
Celera SNP ID:                hCV25932658
SNP Position Transcript:      682
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,33|A,1)  total(G,73|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1642):
CGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGGTGGTGCTGCCCGACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCATTTCCGGTGAG
Y
GCCCTCTGCGGGGGGCCCGGGCTCTGGCCCTGGGCACTGCTGGCGGGCTGCCCTGCAGAGACCGGGCTGTGAAAAGCACCTCCTGGCGGCCCCCTGGTTT
Celera SNP ID:                hCV25932601
SNP Position Transcript:      649
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,31)  total(T,1|C,71)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1643):
ATGCCTCAGGACTCACAGGAAGCATTGTCGGGCATGTGGGTGACGGCAACTTCCACTGCATCCTGCTGGTCAACCCTGATGACGCCGAGGAACTGGGCAG
S
GTCAAGGCTTTTGCAGAACAGCTGGGCAGGCGGGCACTGGCTCTCCACGGAACGTGCACGGGGGAGCATGGCATCGGAATGGGCAAGCGGCAGCTGCTGC
Celera SNP ID:                hCV25942304
SNP Position Transcript:      1634
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:350, 138,(R,AGG) (S,AGC)



Context              (SEQ ID NO:1644):
CAGCCACCACCCTGCGCCTGCACCCTGCCCCTGAGGCCACAGTGGCCGCCACGTGTGCGTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACAT
Y
CTCCAGGCTGCAGTGCCCGTAGCCCGCATTGAGTTCCTGGATGAAGTCATGATGGATGCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCA
Celera SNP ID:                hCV25938258
SNP Position Transcript:      1172
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,31)  total(T,1|C,69)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1645):
AGCAGTAGCTGCTGCCACAGTAGCTGACTG
K
TCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGAGCTGTTCCCCTGGAGGGGCTACT
Celera SNP ID:                hCV31575429
SNP Position Transcript:      31
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1646):
CCATGCGGGACAACGTGCTCAACCTGGAGGTGGTGCTGCCCGACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCATTTCCGGTGAGCGCCCTCTGC
S
GGGGGCCCGGGCTCTGGCCCTGGGCACTGCTGGCGGGCTGCCCTGCAGAGACCGGGCTGTGAAAAGCACCTCCTGGCGGCCCCCTGGTTTGGCAGGCTAG
Celera SNP ID:                hCV25932620
SNP Position Transcript:      659
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|C,1)  african american(G,32|C,0)  total(G,71|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1647):
AGCAGTA
K
CTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGA
Celera SNP ID:                hCV25933065
SNP Position Transcript:      8
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,38)  african american(T,2|G,32)  total(T,2|G,70)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1648):
TGAACCAGGAGGACTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAGCCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCC
R
GGCGCGGACGCCTCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGACCAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGG
Celera SNP ID:                hCV25931860
SNP Position Transcript:      488
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,2|A,32)  total(G,2|A,72)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1649):
ATGGCATCGGAATGGGCAAGCGGCAGCTGCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGACCATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAGG
Y
CTCATGAATCCAGGCAAAGTGCTGTGAAGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGACTACGGAGCCGGTTCTGGAACTTTTCTTCATGCCACGG
Celera SNP ID:                hCV25943401
SNP Position Transcript:      1802
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,0|C,28)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:350, 194,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1650):
CCTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGAC
A
TGATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763443
SNP Position Transcript:      2255
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1651):
CTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACA
T
GATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763444
SNP Position Transcript:      2256
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:350, None



Context              (SEQ ID NO:1652):
TCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACAT
G
ATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763445
SNP Position Transcript:      2257
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:350, None



Gene Number:                  39
Celera Gene:                  hCG21352 - 114000133367483
Celera Transcript:            hCT2252801 - 114000133367513
Public Transcript Accession:  NM_153486
Celera Protein:               hCP1884167 - 197000069427431
Public Protein Accession:     NP_705690
Gene Symbol:                  LDHD
Protein Name:                  lactate dehydrogenase D
Celera Genomic Axis:          GA_x5YUV32W3V0(13088125..13105065)
Chromosome:                   16
OMIM NUMBER:                  607490
OMIM Information:


Transcript Sequence  (SEQ ID NO:90):
AGCAGTAGCTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCA
ACCTGGGAGCTGTTCCCCTGGAGGGGCTACTGCTCCCAGAAGGCAAAGGGAGAGCTCTGCAGGGACTTCGTAGAGGCTCTGAAGGCCGTGGTGGGCGGCT
CCCACGTGTCCACTGCCGCGGTGGTCCGAGAGCAGCACGGGCGCGATGAGTCGGTGCACAGGTGCGAACCTCCTGATGCTGTGGTGTGGCCCCAGAACGT
GGAGCAGGTCAGCCGGCTGGCAGCCCTGTGCTATCGCCAAGGTGTGCCCATCATCCCATTCGGCACCGGCACCGGGCTTGAGGGTGGCGTCTGTGCTGTG
CAGGGCGGCGTCTGCGTTAACCTGACGCATATGGACCGAATCCTGGAGCTGAACCAGGAGGACTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAG
CCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCCAGGCGCGGACGCCTCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGAC
CAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGGTGGTGCTGCCCGACGGGCGGCTGCTGCACACGGCGGGCCGAGGCCGGCAT
TTCCGCTTCGGCTTCTGGCCAGAAATCCCTCATCACACAGCCTGGTACTCACCTTGTGTGTCCCTGGGACGTAGGAAGAGTGCAGCCGGCTACAACCTCA
CGGGGCTCTTCGTGGGCTCCGAGGGGACGCTGGGCCTCATCACAGCCACCACCCTGCGCCTGCACCCTGCCCCTGAGGCCACAGTGGCCGCCACGTGTGC
GTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACATCCTCCAGGCTGCAGTGCCCGTAGCCCGCATTGAGTTCCTGGATGAAGTCATGATGGAT
GCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCACACTCTTCCTGGAGTTCCATGGCTCCCAGCAGGCACTGGAGGAGCAGCTGCAGCGCA
CAGAGGAGATAGTCCAGCAGAACGGAGCCTCTGACTTCTCCTGGGCCAAGGAGGCCGAGGAGCGCAGCCGGCTTTGGACAGCACGGCACAATGCCTGGTA
CGCAGCCCTGGCCACGCGGCCAGGCTGCAAGGGCTACTCCACGGATGTGTGTGTGCCCATCTCCCGGCTGCCGGAGATCGTGGTGCAGACCAAGGAGGAT
CTGAATGCCTCAGGACTCACAGGAAGCATTGTCGGGCATGTGGGTGACGGCAACTTCCACTGCATCCTGCTGGTCAACCCTGATGACGCCGAGGAACTGG
GCAGGGTCAAGGCTTTTGCAGAACAGCTGGGCAGGCGGGCACTGGCTCTCCACGGAACGTGCACGGGGGAGCATGGCATCGGAATGGGCAAGCGGCAGCT
GCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGACCATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAGGCCTCATGAATCCAGGCAAAGTGCTGTGA
AGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGACTACGGAGCCGGTTCTGGAACTTTTCTTCATGCCACGGCCCCTGCAAGGAAATAGATGCTGAGGC
AGTCTTCCTGCCAGCGAGCCCACTGTATCTGGGCCCAAGGCCAGAGGGCCCAGAGAGAAGCCTGAGCACCGTGTTACCTCCCTGGCCCTCTGGCTGGCCC
CAGGAGCCTTTGGTTCAGTAAACGACCCAGGGTGGTTCCCAGCAAAGCTGCTTCCTCTCTGCTCCTACGCATCCTGTCCTGGCGGGAAGAGAGCGTCTGG
GTCCATTCAAGACTCTGATGACACCCCTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCT
GGTATGGAACGTGAGCTCCCGTGACATGATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC


Protein Sequence     (SEQ ID NO:351):
MARLLRSATWELFPWRGYCSQKAKGELCRDFVEALKAVVGGSHVSTAAVVREQHGRDESVHRCEPPDAVVWPQNVEQVSRLAALCYRQGVPIIPFGTGTG
LEGGVCAVQGGVCVNLTHMDRILELNQEDFSVVVEPGVTRKALNAHLRDSGLWFPVDPGADASLCGMAATGASGTNAVRYGTMRDNVLNLEVVLPDGRLL
HTAGRGRHFRFGFWPEIPHHTAWYSPCVSLGRRKSAAGYNLTGLFVGSEGTLGLITATTLRLHPAPEATVAATCAFPSVQAAVDSTVHILQAAVPVARIE
FLDEVMMDACNRYSKLNCLVAPTLFLEFHGSQQALEEQLQRTEEIVQQNGASDFSWAKEAEERSRLWTARHNAWYAALATRPGCKGYSTDVCVPISRLPE
IVVQTKEDLNASGLTGSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQLGRRALALHGTCTGEHGIGMGKRQLLQEEVGAVGVETMRQLKAVLDPQGL
MNPGKVL*



SNP Information


Context              (SEQ ID NO:1653):
CTGCACACGGCGGGCCGAGGCCGGCATTTCCGCTTCGGCTTCTGGCCAGAAATCCCTCATCACACAGCCTGGTACTCACCTTGTGTGTCCCTGGGACGTA
R
GAAGAGTGCAGCCGGCTACAACCTCACGGGGCTCTTCGTGGGCTCCGAGGGGACGCTGGGCCTCATCACAGCCACCACCCTGCGCCTGCACCCTGCCCCT
Celera SNP ID:                hCV2847101
SNP Position Transcript:      774
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:351, 233,(R,AGG) (K,AAG)



Context              (SEQ ID NO:1654):
ATGCCTCAGGACTCACAGGAAGCATTGTCGGGCATGTGGGTGACGGCAACTTCCACTGCATCCTGCTGGTCAACCCTGATGACGCCGAGGAACTGGGCAG
S
GTCAAGGCTTTTGCAGAACAGCTGGGCAGGCGGGCACTGGCTCTCCACGGAACGTGCACGGGGGAGCATGGCATCGGAATGGGCAAGCGGCAGCTGCTGC
Celera SNP ID:                hCV25942304
SNP Position Transcript:      1405
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:351, 443,(R,AGG) (S,AGC)



Context              (SEQ ID NO:1655):
CAGCCACCACCCTGCGCCTGCACCCTGCCCCTGAGGCCACAGTGGCCGCCACGTGTGCGTTCCCCAGTGTCCAGGCTGCTGTGGACAGCACTGTACACAT
Y
CTCCAGGCTGCAGTGCCCGTAGCCCGCATTGAGTTCCTGGATGAAGTCATGATGGATGCCTGCAACAGGTACAGCAAGCTGAATTGCTTAGTGGCGCCCA
Celera SNP ID:                hCV25938258
SNP Position Transcript:      943
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,31)  total(T,1|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:351, 289,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1656):
AGCAGTAGCTGCTGCCACAGTAGCTGACTG
K
TCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGAGCTGTTCCCCTGGAGGGGCTACT
Celera SNP ID:                hCV31575429
SNP Position Transcript:      31
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:351, None



Context              (SEQ ID NO:1657):
AGCAGTA
K
CTGCTGCCACAGTAGCTGACTGGTCACCCTGCCACCCAGTGCTCACACCCTCTGGCCAGTGCCTGGCTATGGCCCGACTGCTCAGGTCTGCAACCTGGGA
Celera SNP ID:                hCV25933065
SNP Position Transcript:      8
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|G,38)  african american(T,2|G,32)  total(T,2|G,70)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:351, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:351, None



Context              (SEQ ID NO:1658):
TGAACCAGGAGGACTTCTCTGTGGTGGTGGAGCCAGGTGTCACCCGCAAAGCCCTCAACGCCCACCTGCGGGACAGCGGCCTCTGGTTTCCCGTGGACCC
R
GGCGCGGACGCCTCTCTCTGTGGCATGGCGGCCACCGGGGCGTCGGGGACCAACGCGGTCCGCTACGGCACCATGCGGGACAACGTGCTCAACCTGGAGG
Celera SNP ID:                hCV25931860
SNP Position Transcript:      550
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,2|A,32)  total(G,2|A,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:351, 158,(P,CCA) (P,CCG)



Context              (SEQ ID NO:1659):
ATGGCATCGGAATGGGCAAGCGGCAGCTGCTGCAGGAGGAGGTGGGCGCCGTGGGCGTGGAGACCATGCGGCAGCTCAAGGCCGTGCTAGACCCCCAAGG
Y
CTCATGAATCCAGGCAAAGTGCTGTGAAGGGGGTCTGAGCACTTAGCCCACAAGTTCCCTGACTACGGAGCCGGTTCTGGAACTTTTCTTCATGCCACGG
Celera SNP ID:                hCV25943401
SNP Position Transcript:      1573
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,0|C,28)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:351, 499,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1660):
CCTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGAC
A
TGATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763443
SNP Position Transcript:      2026
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:351, None



Context              (SEQ ID NO:1661):
CTCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACA
T
GATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763444
SNP Position Transcript:      2027
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:351, None



Context              (SEQ ID NO:1662):
TCCCCGAGGCCTCCCACTGCCGGGGTCCCAGGACCCTTCCCCCTTCACCTGGTGACAGGAACACTCCTTTCCTGGTATGGAACGTGAGCTCCCGTGACAT
G
ATGATAGGTCTTCTCCTTGGGGCCTCCCCCAATAAATCTGTAATAAACCTGAAACCCACCTACAGCTACC
Celera SNP ID:                hCV26763445
SNP Position Transcript:      2028
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,6|-,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:351, None



Gene Number:                  40
Celera Gene:                  hCG21652 - 104000116881358
Celera Transcript:            hCT12745 - 104000116881359
Public Transcript Accession:  NM_005261
Celera Protein:               hCP39182 - 197000069353949
Public Protein Accession:     NP_005252
Gene Symbol:                  GEM
Protein Name:                  GTP binding protein overexpressed in skeletal muscle
Celera Genomic Axis:          GA_x5YUV32W2RH(8406911..8432004)
Chromosome:                   8
OMIM NUMBER:                  600164
OMIM Information:


Transcript Sequence  (SEQ ID NO:91):
ATAAACCGCCCGGCCGCGGCGGCTGCAGGCGGCGGGCAAGGACGGCGGGCACAGCGCAGCACTCCCCGCTCGTTGGCCCGGGTATCCCAGCGCGGACCCA
CGCGATACGCTGACGCCCCGACGCCGATCCGGCCGAGCCAAGTAAGGGGGACGGCCCGAGACGGAGAAGGGAGAGAGTGGGAGTTTCCCAGCCCGCAGAA
CTTTCGAAGTTGAGAAGAGAACCCCTGGAACGTGCGCTCAGCACTGGGATTTTCTGGACTCAACGATGACTCTGAATAATGTCACCATGCGCCAGGGCAC
TGTGGGCATGCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGAAAGAGCCCCACCAGTACAGCCACCGCAACCGC
CATTCTGCTACCCCTGAGGACCACTGCCGCCGAAGCTGGTCCTCTGACTCCACAGACTCAGTCATCTCCTCTGAGTCAGGGAACACCTACTACCGAGTGG
TGCTCATAGGGGAGCAGGGGGTGGGCAAGTCCACTCTGGCCAACATCTTTGCAGGTGTGCATGACAGCATGGACAGCGACTGCGAGGTGCTGGGAGAAGA
TACATATGAACGAACCCTGATGGTTGATGGGGAAAGTGCAACGATTATACTCCTGGATATGTGGGAAAATAAGGGGGAAAATGAATGGCTCCATGACCAC
TGCATGCAGGTCGGGGACGCATACCTGATTGTCTACTCAATCACAGACCGAGCGAGCTTCGAGAAGGCATCTGAGCTGCGAATCCAGCTCCGCAGGGCCC
GGCAGACAGAGGACATTCCCATAATTTTGGTTGGCAACAAAAGTGACTTAGTGCGGTGCCGAGAAGTGTCTGTATCAGAAGGGAGAGCCTGTGCAGTGGT
GTTTGACTGCAAGTTCATCGAGACCTCTGCAGCTGTCCAGCACAACGTGAAGGAGCTGTTTGAGGGCATTGTGCGACAGGTGCGCCTTCGGCGGGACAGC
AAGGAGAAGAATGAACGGCGGCTGGCCTACCAGAAAAGGAAGGAGAGCATGCCCAGGAAAGCCAGGCGCTTCTGGGGCAAGATCGTGGCCAAAAACAACA
AGAATATGGCCTTCAAGCTCAAGTCCAAATCCTGCCATGACCTCTCTGTACTCTAGGAACCCAGGGTCACCCAGATGTCCCTTTGATGGCCGTTGTTGAA
GGCCATTGGGACCAATAATCTATATTAGATTGAATACTTAAGTTAGATGTGGTTTCCCCCATTGTAGCAGGGAGCTAGCGTATTAGCCTTGTGGGCAACA
TGATGCATGGGAAATGAAAGATTTTTGTAAAAAGTCAGTATTTATTTCCAGGAAAAGCCTGACCTTGCTATTTGAACACCCAAGACTCTTTAGAGGATGT
GTTTGGTGTTCACATGTGTTTCTTCTATTTTGGATAGTAGAGAAGTAAAGCTTACAAAGAATGCCTAGAACAAGAACTTTTCATCATTAAAAATTTTTCC
CAGTGTTCTGATATGTGACTTTGAGGCCAATGAGTCATAAACAAATATAAGAAAGCTGTCAATGAGTTTCTTCAAAGGAGGGAAAACTTTCTACGAATCT
AAGATCCATGGAGCTAGAATTGTAGAACTAGGCTCATCAGAATCGTGACTATTATTGCTCCATCAAACTGTGAAAAGAAATGATGTGGACCTTGCTGGAA
ACAAAGGCTTAGCAAACAATTTTTGTTCAATGCCCACCGAGACATATAGAATTGGGAACTGATACATGTGTCCCTTATAGGCTCAAAAATTATATCTTAC
AATTTCTTATTTAGGGGGAAATTATTTGAATCAGATTCTATTTAGTCAAACCACCTTTTATGTTTTATTATTTTTGAATTCATGGAGCCATCATAAAAAT
ATTTTTAAAATCAGAATTATTGATACCCTGTAGTGCAAAATGTCAATTTTTAATGTATAATCAGAAGTCTGAATTTTTATAAAACATATAGCATAAAAAC
TTCCAGTACTTTGGTTGACCCTTGTATGTCACAGCTCTGCTCTATTTATTATTATTTTGCAAAATAACCATTTTAACATTTGATAAAGCATATTTATGAA
CATATTTCTTAATAAGAAAAATATCCATTTTATTACCATTTTCTATCTTTTTCAAAATATGCAAGTTTTTACCTATATGTCTTATAATAAAAGAAATAAA
ATATTTGAAAAAA


Protein Sequence     (SEQ ID NO:352):
MTLNNVTMRQGTVGMQPQQQRWSIPADGRHLMVQKEPHQYSHRNRHSATPEDHCRRSWSSDSTDSVISSESGNTYYRVVLIGEQGVGKSTLANIFAGVHD
SMDSDCEVLGEDTYERTLMVDGESATIILLDMWENKGENEWLHDHCMQVGDAYLIVYSITDRASFEKASELRIQLRRARQTEDIPIILVGNKSDLVRCRE
VSVSEGRACAVVFDCKFIETSAAVQHNVKELFEGIVRQVRLRRDSKEKNERRLAYQKRKESMPRKARRFWGKIVAKNNKNMAFKLKSKSCHDLSVL*



SNP Information


Context              (SEQ ID NO:1663):
CCCGACGCCGATCCGGCCGAGCCAAGTAAGGGGGACGGCCCGAGACGGAGAAGGGAGAGAGTGGGAGTTTCCCAGCCCGCAGAACTTTCGAAGTTGAGAA
R
AGAACCCCTGGAACGTGCGCTCAGCACTGGGATTTTCTGGACTCAACGATGACTCTGAATAATGTCACCATGCGCCAGGGCACTGTGGGCATGCAGCCAC
Celera SNP ID:                hCV1644151
SNP Position Transcript:      217
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,386|A,1112) ; no_pop(G,12|A,7) ; no_pop(G,-|A,-) ; no_pop(G,1
54|A,194) ; no_pop(G,73|A,47)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:352, None



Context              (SEQ ID NO:1664):
CCAGGGCACTGTGGGCATGCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGAAAGAGCCCCACCAGTACAGCCAC
S
GCAACCGCCATTCTGCTACCCCTGAGGACCACTGCCGCCGAAGCTGGTCCTCTGACTCCACAGACTCAGTCATCTCCTCTGAGTCAGGGAACACCTACTA
Celera SNP ID:                hCV16149296
SNP Position Transcript:      392
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 43,(R,CGC) (G,GGC)



Context              (SEQ ID NO:1665):
GTTGAGAAGAGAACCCCTGGAACGTGCGCTCAGCACTGGGATTTTCTGGACTCAACGATGACTCTGAATAATGTCACCATGCGCCAGGGCACTGTGGGCA
Y
GCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGAAAGAGCCCCACCAGTACAGCCACCGCAACCGCCATTCTGCT
Celera SNP ID:                hCV25599351
SNP Position Transcript:      309
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 15,(M,ATG) (T,ACG)



Context              (SEQ ID NO:1666):
CCAGGGCACTGTGGGCATGCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGAAAGAGCCCCACCAGTACAGCCAC
S
GCAACCGCCATTCTGCTACCCCTGAGGACCACTGCCGCCGAAGCTGGTCCTCTGACTCCACAGACTCAGTCATCTCCTCTGAGTCAGGGAACACCTACTA
Celera SNP ID:                hCV22273145
SNP Position Transcript:      392
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,2)  african american(A,6|G,0)  total(A,6|G,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 43,(R,CGC) (G,GGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2732|G,268) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 43,(R,CGC) (G,GGC)



Context              (SEQ ID NO:1667):
ACTCTGAATAATGTCACCATGCGCCAGGGCACTGTGGGCATGCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGA
W
AGAGCCCCACCAGTACAGCCACCGCAACCGCCATTCTGCTACCCCTGAGGACCACTGCCGCCGAAGCTGGTCCTCTGACTCCACAGACTCAGTCATCTCC
Celera SNP ID:                hDV69168722
SNP Position Transcript:      369
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 35,(K,AAA) (I,ATA)



Context              (SEQ ID NO:1668):
TAATGTCACCATGCGCCAGGGCACTGTGGGCATGCAGCCACAGCAGCAGCGCTGGAGCATCCCAGCTGATGGCAGGCATCTGATGGTCCAGAAAGAGCCC
Y
ACCAGTACAGCCACCGCAACCGCCATTCTGCTACCCCTGAGGACCACTGCCGCCGAAGCTGGTCCTCTGACTCCACAGACTCAGTCATCTCCTCTGAGTC
Celera SNP ID:                hCV25599352
SNP Position Transcript:      377
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:352, 38,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:1669):
TTTATTTCCAGGAAAAGCCTGACCTTGCTATTTGAACACCCAAGACTCTTTAGAGGATGTGTTTGGTGTTCACATGTGTTTCTTCTATTTTGGATAGTAG
R
GAAGTAAAGCTTACAAAGAATGCCTAGAACAAGAACTTTTCATCATTAAAAATTTTTCCCAGTGTTCTGATATGTGACTTTGAGGCCAATGAGTCATAAA
Celera SNP ID:                hCV3070014
SNP Position Transcript:      1441
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,34|G,58) ; no_pop(A,7|G,7) ; no_pop(A,-|G,-) ; no_pop(A,200|G
,144) ; no_pop(A,44|G,76)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:352, None



Context              (SEQ ID NO:1670):
AGAATCGTGACTATTATTGCTCCATCAAACTGTGAAAAGAAATGATGTGGACCTTGCTGGAAACAAAGGCTTAGCAAACAATTTTTGTTCAATGCCCACC
R
AGACATATAGAATTGGGAACTGATACATGTGTCCCTTATAGGCTCAAAAATTATATCTTACAATTTCTTATTTAGGGGGAAATTATTTGAATCAGATTCT
Celera SNP ID:                hCV11176855
SNP Position Transcript:      1739
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,59|A,33) ; no_pop(G,-|A,-) ; no_pop(G,84|A,36)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:352, None



Context              (SEQ ID NO:1671):
ATTCATGGAGCCATCATAAAAATATTTTTAAAATCAGAATTATTGATACCCTGTAGTGCAAAATGTCAATTTTTAATGTATAATCAGAAGTCTGAATTTT
Y
ATAAAACATATAGCATAAAAACTTCCAGTACTTTGGTTGACCCTTGTATGTCACAGCTCTGCTCTATTTATTATTATTTTGCAAAATAACCATTTTAACA
Celera SNP ID:                hCV8926684
SNP Position Transcript:      1978
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,74|T,18) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:352, None



Context              (SEQ ID NO:1672):
ATTTTTAAAATCAGAATTATTGATACCCTGTAGTGCAAAATGTCAATTTTTAATGTATAATCAGAAGTCTGAATTTTTATAAAACATATAGCATAAAAAC
Y
TCCAGTACTTTGGTTGACCCTTGTATGTCACAGCTCTGCTCTATTTATTATTATTTTGCAAAATAACCATTTTAACATTTGATAAAGCATATTTATGAAC
Celera SNP ID:                hCV8926685
SNP Position Transcript:      2001
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:352, None



Context              (SEQ ID NO:1673):
CAGAATTATTGATACCCTGTAGTGCAAAATGTCAATTTTTAATGTATAATCAGAAGTCTGAATTTTTATAAAACATATAGCATAAAAACTTCCAGTACTT
K
GGTTGACCCTTGTATGTCACAGCTCTGCTCTATTTATTATTATTTTGCAAAATAACCATTTTAACATTTGATAAAGCATATTTATGAACATATTTCTTAA
Celera SNP ID:                hCV16256208
SNP Position Transcript:      2012
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:352, None



Gene Number:                  41
Celera Gene:                  hCG23390 - 84000314231253
Celera Transcript:            hCT14497 - 84000314231254
Public Transcript Accession:
Celera Protein:               hCP40864 - 197000069466350
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VYAU(10649637..10690072)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:92):
ATGTCTGCAGTCCTCACCCCTGGCCTGTTCCTCCCCCTCCCAGGGCCCCTCCCGGCCTCTCTACATAAAGCCGGGGGTACTGGGCCTCAGGTCAGGCCTA
TGGCCATGGCCTTCACAGACCTGCTGGATGCTCTGGGCAGCATGGGCCGCTTCCAGCTCAACCACACAGCCCTGCTGCTGCTGCCCTGCGGCCTGCTGGC
CTGCCACAACTTCCTGCAGAACTTCACGGCCGCTGTCCCCCCCCACCACTGCCGGGGCCCTGCCAACCACACTGAGGCCTCCACCAACGACTCGGGGGCC
TGGCTGAGGGCCACCATACCCCTGGACCAGCTTGGGGCCCCTGAGCCCTGCCGGCGCTTCACCAAGCCTCAGTGGGCCCTGCTGAGCCCCAACTCCTCCA
TCCCGGGCGCGGCCACGGAGGGCTGCAAGGACGGCTGGGTCTATAACCGCAGTGTTTTCCCGTCCACCATCGTGATGGAGGTCAGAAGGGGCTGGGTGTG
TGGGGGGGCTGCTGCCGAGGCCCAGTCTGAAGCGCCCATGTCTTCCCTGCAGTGGGATCTGGTGTGTGAGGCCCGCACTCTCCGAGACCTGGCGCAGTCC
GTCTACATGGCCGGGGTGCTGGTGGGGGCTGCCGTGTTTGGCAGCTTGGCAGACAGGCTGGGCTGCAAGGGCCCCCTGGTCTGGTCCTACCTGCAGCTGG
CAGCTTCGGGGGCCGCCACAGCGTATTTCAGCTCCTTCAGTGCCTATTGCGTCTTCCGGTTCCTGATGGGCATGACCTTCTCTGGCATCATCCTCAACTC
CGTCTCCCTGCCTCCCGCCAGAGTTCTGGACCTGGGGGACCTGGGCTCCCGGGTAGTGGTGGCCCTGCTGGCTGTGGTTGTGGAGTGGATGCCCACACGG
GGCCGGACTGTGGCGGGTATTTTGCTGGGGTATTCCTTCACCCTGGGCCAGCTCATCCTGGCTGGGGTAGCCTACCTGATTCGCCCCTGGCGGTGCCTGC
AGTTTGCCATCTCTGCTCCTTTCCTGATCTTTTTCCTCTATTCTTGGTGGCTTCCAGAGTCATCCCGCTGGCTCCTCCTGCATGGCAAGTCCCAGTTAGC
TGTACAGAATCTGCAGAAGGTGGCTGCAATGAACGGGAGGAAGCAGGAAGGGGAAAGGCTGACCAAGGAGGTGATGAGCTCCTACATCCAAAGCGAGTTT
GCAAGTGTCTGCACCTCCAACTCAATCTTGGACCTCTTCCGAACCCCGGCCATCCGCAAGGTCACATGCTGTCTCATGGTGATTTGGTGGGGCCATTCTC
CTATGGAGCCGACCCGACCCGCTCAAAGCTGCCCCGGGAACCGCAGGTTTGGTTCGCGCACGCCGGGACTTGCCAACCGCACCCGAAAAATCGGGGCCAT
GTCCAAATGTTTCGCTTCGCTGCCGGCAGGGAGCCGCGCCGGGCTCGCTCCTGGGATCAACTGCACAGTCCTGGCTTTGGGGAGCGGGAGGCGGTTCTCC
AACTCTGTGGCTTACTATGGCCTGGCCATGGACCTGCAGAAGTTTGGGCTCAGCCTATACCTGGTGCAGGCCCTGTTTGGAATCATCAACATCCCGGCCA
TGCTGGTGGCCACCGCCACCATGATTTACGTGGGCCGCCGTGCCACGGTGGCCTCCTTCCTCATCCTGGCCGGGCTCATGGTGATCGCCAACATGTTTGT
GCCAGAAGGCACGCAGATCCTGTGCACAGCCCAGGCAGCGCTGGGCAAAGGCTGCCTGGCCAGCTCCTTCATCTGTGTGTACCTGTTTACCGGCGAGCTG
TACCCCACGGAGATCAGGCAGATGGGGATGGGCTTTGCCTCTGTCCACGCCCGCCTCGGGGGCCTGACGGCGCCCCTGGTTACCACACTTGGGGAATACA
GCACCATCCTGCCACCCGTGAGCTTTGGGGCCACCGCAATCCTGGCTGGGCTGGCCGTCTGCTTCCTGACCGAGACCCGCAACATGCCCCTGGTGGAGAC
CATCGCAGCCATGGAGAGGAGGGTCAAAGAAGGCTCTTCCAAGAAACATGTAGAAGAGAAGAGTGAAGAAATTTCTCTTCAGCAGCTGAGAGCATCTCCC
CTCAAAGAGACCATC


Protein Sequence     (SEQ ID NO:353):
MSAVLTPGLFLPLPGPLPASLHKAGGTGPQVRPMAMAFTDLLDALGSMGRFQLNHTALLLLPCGLLACHNFLQNFTAAVPPHHCRGPANHTEASTNDSGA
WLRATIPLDQLGAPEPCRRFTKPQWALLSPNSSIPGAATEGCKDGWVYNRSVFPSTIVMEVRRGWVCGGAAAEAQSEAPMSSLQWDLVCEARTLRDLAQS
VYMAGVLVGAAVFGSLADRLGCKGPLVWSYLQLAASGAATAYFSSFSAYCVFRFLMGMTFSGIILNSVSLPPARVLDLGDLGSRVVVALLAVVVEWMPTR
GRTVAGILLGYSFTLGQLILAGVAYLIRPWRCLQFAISAPFLIFFLYSWWLPESSRWLLLHGKSQLAVQNLQKVAAMNGRKQEGERLTKEVMSSYIQSEF
ASVCTSNSILDLFRTPAIRKVTCCLMVIWWGHSPMEPTRPAQSCPGNRRFGSRTPGLANRTRKIGAMSKCFASLPAGSRAGLAPGINCTVLALGSGRRFS
NSVAYYGLAMDLQKFGLSLYLVQALFGIINIPAMLVATATMIYVGRRATVASFLILAGLMVIANMFVPEGTQILCTAQAALGKGCLASSFICVYLFTGEL
YPTEIRQMGMGFASVHARLGGLTAPLVTTLGEYSTILPPVSFGATAILAGLAVCFLTETRNMPLVETIAAMERRVKEGSSKKHVEEKSEEISLQQLRASP
LKETI



SNP Information


Context              (SEQ ID NO:1674):
ACATGTTTGTGCCAGAAGGCACGCAGATCCTGTGCACAGCCCAGGCAGCGCTGGGCAAAGGCTGCCTGGCCAGCTCCTTCATCTGTGTGTACCTGTTTAC
Y
GGCGAGCTGTACCCCACGGAGATCAGGCAGATGGGGATGGGCTTTGCCTCTGTCCACGCCCGCCTCGGGGGCCTGACGGCGCCCCTGGTTACCACACTTG
Celera SNP ID:                hCV25941028
SNP Position Transcript:      1791
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,6)  african american(C,8|T,10)  total(C,10|T,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 597,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1675):
GGTGGGGCCATTCTCCTATGGAGCCGACCCGACCCGCTCAAAGCTGCCCCGGGAACCGCAGGTTTGGTTCGCGCACGCCGGGACTTGCCAACCGCACCCG
R
AAAATCGGGGCCATGTCCAAATGTTTCGCTTCGCTGCCGGCAGGGAGCCGCGCCGGGCTCGCTCCTGGGATCAACTGCACAGTCCTGGCTTTGGGGAGCG
Celera SNP ID:                hCV1067152
SNP Position Transcript:      1386
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 462,(R,CGA) (R,CGG)



Context              (SEQ ID NO:1676):
CGCCCCTGGTTACCACACTTGGGGAATACAGCACCATCCTGCCACCCGTGAGCTTTGGGGCCACCGCAATCCTGGCTGGGCTGGCCGTCTGCTTCCTGAC
Y
GAGACCCGCAACATGCCCCTGGTGGAGACCATCGCAGCCATGGAGAGGAGGGTCAAAGAAGGCTCTTCCAAGAAACATGTAGAAGAGAAGAGTGAAGAAA
Celera SNP ID:                hCV1067181
SNP Position Transcript:      1971
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,1604|T,208) ; no_pop(C,-|T,-) ; no_pop(C,198|T,30)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 657,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1677):
CCACCACTGCCGGGGCCCTGCCAACCACACTGAGGCCTCCACCAACGACTCGGGGGCCTGGCTGAGGGCCACCATACCCCTGGACCAGCTTGGGGCCCCT
R
AGCCCTGCCGGCGCTTCACCAAGCCTCAGTGGGCCCTGCTGAGCCCCAACTCCTCCATCCCGGGCGCGGCCACGGAGGGCTGCAAGGACGGCTGGGTCTA
Celera SNP ID:                hCV3251105
SNP Position Transcript:      343
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,12|G,26)  african american(A,13|G,25)  total(A,25|G,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 115,(E,GAG) (K,AAG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 115,(E,GAG) (K,AAG)



Context              (SEQ ID NO:1678):
CTGCTGCCGAGGCCCAGTCTGAAGCGCCCATGTCTTCCCTGCAGTGGGATCTGGTGTGTGAGGCCCGCACTCTCCGAGACCTGGCGCAGTCCGTCTACAT
K
GCCGGGGTGCTGGTGGGGGCTGCCGTGTTTGGCAGCTTGGCAGACAGGCTGGGCTGCAAGGGCCCCCTGGTCTGGTCCTACCTGCAGCTGGCAGCTTCGG
Celera SNP ID:                hCV1067157
SNP Position Transcript:      609
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,19|T,19)  african american(G,31|T,7)  total(G,50|T,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 203,(M,ATG) (I,ATT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 203,(M,ATG) (I,ATT)



Context              (SEQ ID NO:1679):
GGTAGTGGTGGCCCTGCTGGCTGTGGTTGTGGAGTGGATGCCCACACGGGGCCGGACTGTGGCGGGTATTTTGCTGGGGTATTCCTTCACCCTGGGCCAG
S
TCATCCTGGCTGGGGTAGCCTACCTGATTCGCCCCTGGCGGTGCCTGCAGTTTGCCATCTCTGCTCCTTTCCTGATCTTTTTCCTCTATTCTTGGTGGCT
Celera SNP ID:                hCV25938254
SNP Position Transcript:      952
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|G,3)  african american(C,36|G,2)  total(C,69|G,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 318,(L,CTC) (V,GTC)



Context              (SEQ ID NO:1680):
CGCTGCCGGCAGGGAGCCGCGCCGGGCTCGCTCCTGGGATCAACTGCACAGTCCTGGCTTTGGGGAGCGGGAGGCGGTTCTCCAACTCTGTGGCTTACTA
Y
GGCCTGGCCATGGACCTGCAGAAGTTTGGGCTCAGCCTATACCTGGTGCAGGCCCTGTTTGGAATCATCAACATCCCGGCCATGCTGGTGGCCACCGCCA
Celera SNP ID:                hCV25940678
SNP Position Transcript:      1518
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,40)  african american(C,1|T,37)  total(C,1|T,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 506,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:1681):
GGACCTGCAGAAGTTTGGGCTCAGCCTATACCTGGTGCAGGCCCTGTTTGGAATCATCAACATCCCGGCCATGCTGGTGGCCACCGCCACCATGATTTAC
R
TGGGCCGCCGTGCCACGGTGGCCTCCTTCCTCATCCTGGCCGGGCTCATGGTGATCGCCAACATGTTTGTGCCAGAAGGCACGCAGATCCTGTGCACAGC
Celera SNP ID:                hCV25941081
SNP Position Transcript:      1630
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,1|G,37)  total(A,1|G,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 544,(V,GTG) (M,ATG)



Context              (SEQ ID NO:1682):
CGCAGATCCTGTGCACAGCCCAGGCAGCGCTGGGCAAAGGCTGCCTGGCCAGCTCCTTCATCTGTGTGTACCTGTTTACCGGCGAGCTGTACCCCACGGA
S
ATCAGGCAGATGGGGATGGGCTTTGCCTCTGTCCACGCCCGCCTCGGGGGCCTGACGGCGCCCCTGGTTACCACACTTGGGGAATACAGCACCATCCTGC
Celera SNP ID:                hCV25940734
SNP Position Transcript:      1812
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 604,(E,GAG) (D,GAC)



Context              (SEQ ID NO:1683):
ATGCTCTGGGCAGCATGGGCCGCTTCCAGCTCAACCACACAGCCCTGCTGCTGCTGCCCTGCGGCCTGCTGGCCTGCCACAACTTCCTGCAGAACTTCAC
S
GCCGCTGTCCCCCCCCACCACTGCCGGGGCCCTGCCAACCACACTGAGGCCTCCACCAACGACTCGGGGGCCTGGCTGAGGGCCACCATACCCCTGGACC
Celera SNP ID:                hCV3251107
SNP Position Transcript:      228
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|G,17)  african american(C,12|G,26)  total(C,35|G,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 76,(T,ACG) (T,ACC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,10) ; no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 76,(T,ACG) (T,ACC)



Context              (SEQ ID NO:1684):
TCCTCAACTCCGTCTCCCTGCCTCCCGCCAGAGTTCTGGACCTGGGGGACCTGGGCTCCCGGGTAGTGGTGGCCCTGCTGGCTGTGGTTGTGGAGTGGAT
R
CCCACACGGGGCCGGACTGTGGCGGGTATTTTGCTGGGGTATTCCTTCACCCTGGGCCAGCTCATCCTGGCTGGGGTAGCCTACCTGATTCGCCCCTGGC
Celera SNP ID:                hCV25938608
SNP Position Transcript:      891
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 297,(M,ATG) (I,ATA)



Context              (SEQ ID NO:1685):
CCTGACGGCGCCCCTGGTTACCACACTTGGGGAATACAGCACCATCCTGCCACCCGTGAGCTTTGGGGCCACCGCAATCCTGGCTGGGCTGGCCGTCTGC
K
TCCTGACCGAGACCCGCAACATGCCCCTGGTGGAGACCATCGCAGCCATGGAGAGGAGGGTCAAAGAAGGCTCTTCCAAGAAACATGTAGAAGAGAAGAG
Celera SNP ID:                hCV16157799
SNP Position Transcript:      1963
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|T,32)  african american(G,4|T,34)  total(G,6|T,66)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 655,(F,TTC) (V,GTC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 655,(F,TTC) (V,GTC)



Context              (SEQ ID NO:1686):
TTGGTGGCTTCCAGAGTCATCCCGCTGGCTCCTCCTGCATGGCAAGTCCCAGTTAGCTGTACAGAATCTGCAGAAGGTGGCTGCAATGAACGGGAGGAAG
S
AGGAAGGGGAAAGGCTGACCAAGGAGGTGATGAGCTCCTACATCCAAAGCGAGTTTGCAAGTGTCTGCACCTCCAACTCAATCTTGGACCTCTTCCGAAC
Celera SNP ID:                hCV590539
SNP Position Transcript:      1144
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,62|C,122) ; no_pop(G,-|C,-) ; no_pop(G,32|C,208)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 382,(Q,CAG) (E,GAG)



Context              (SEQ ID NO:1687):
CGGTTCTCCAACTCTGTGGCTTACTATGGCCTGGCCATGGACCTGCAGAAGTTTGGGCTCAGCCTATACCTGGTGCAGGCCCTGTTTGGAATCATCAACA
Y
CCCGGCCATGCTGGTGGCCACCGCCACCATGATTTACGTGGGCCGCCGTGCCACGGTGGCCTCCTTCCTCATCCTGGCCGGGCTCATGGTGATCGCCAAC
Celera SNP ID:                hCV16157811
SNP Position Transcript:      1592
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,33)  african american(C,6|T,32)  total(C,9|T,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 531,(I,ATC) (T,ACC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 531,(I,ATC) (T,ACC)



Context              (SEQ ID NO:1688):
CTGAAGCGCCCATGTCTTCCCTGCAGTGGGATCTGGTGTGTGAGGCCCGCACTCTCCGAGACCTGGCGCAGTCCGTCTACATGGCCGGGGTGCTGGTGGG
S
GCTGCCGTGTTTGGCAGCTTGGCAGACAGGCTGGGCTGCAAGGGCCCCCTGGTCTGGTCCTACCTGCAGCTGGCAGCTTCGGGGGCCGCCACAGCGTATT
Celera SNP ID:                hCV25932760
SNP Position Transcript:      627
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|G,34)  african american(C,5|G,33)  total(C,7|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:353, 209,(G,GGG) (G,GGC)



Context              (SEQ ID NO:1689):
CTGCTGCCCTGCGGCCTGCTGGCCTGCCACAACTTCCTGCAGAACTTCACGGCCGCTGTCCCCCCCCACCACTGCCGGGGCCCTGCCAACCACACTGAGG
M
CTCCACCAACGACTCGGGGGCCTGGCTGAGGGCCACCATACCCCTGGACCAGCTTGGGGCCCCTGAGCCCTGCCGGCGCTTCACCAAGCCTCAGTGGGCC
Celera SNP ID:                hCV3251106
SNP Position Transcript:      278
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,11|C,27)  african american(A,5|C,31)  total(A,16|C,58)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 93,(A,GCC) (D,GAC)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,20|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 93,(A,GCC) (D,GAC)



Context              (SEQ ID NO:1690):
TGGGTGTGTGGGGGGGCTGCTGCCGAGGCCCAGTCTGAAGCGCCCATGTCTTCCCTGCAGTGGGATCTGGTGTGTGAGGCCCGCACTCTCCGAGACCTGG
Y
GCAGTCCGTCTACATGGCCGGGGTGCTGGTGGGGGCTGCCGTGTTTGGCAGCTTGGCAGACAGGCTGGGCTGCAAGGGCCCCCTGGTCTGGTCCTACCTG
Celera SNP ID:                hCV3251104
SNP Position Transcript:      593
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,25|T,5)  african american(C,32|T,6)  total(C,57|T,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 198,(A,GCG) (V,GTG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,14|T,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:353, 198,(A,GCG) (V,GTG)



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT14503 - 84000314231015
Public Transcript Accession:  NM_005186
Celera Protein:               hCP40875 - 197000069466334
Public Protein Accession:     NP_005177
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:93):
GGGAACGGCGGGAGCAGCTGCGGTCGCGCGGAGCGAGGGGAGCTGGGGACCGGGCGGGCCCGGGGCTGCGGGAGGCGGCGCCGCCGCACAATCGCCCCGG
AATGCCCGCCAGGGCGCGCGTGGGGTGCGGCCGTCCGGCCCTGCAACTCGAGCTGCTGCCCCTGGTTAAAAATACCCCTTGCCCGCCCCTCCCCCTCGTT
TCCCCGCGTGCCCTTCCGCCGCGCCCCAGCCCCCGCATGTCCCCCCGCGCTGGCCCCTCCCCGGGGACTGCTCTGCCTTTTACTAATTTGTCCTCTCGCG
GAATTGGCCCCCGGCTGCGGAGGGAGGGGCGGGGAGACACCGTGAGTAAGAGATAGTCAGAGACCGTGCCGGAGAGATAAGGGAGAGCCGAGAGGAAGCG
GGGTAGGAGCCCCAGGAGGAGGAGGAGGAGAAGGAGAGAGGGAGGGCGGAGGGCGGAGGGGCGGCGGGAGGAGGGCGGGGAGGAGCGCTCTTCCTGGTTG
GGCCCTGCCCTGAGCTGCCACCGGGAAGCCAGCCTCAGGGACTGCAGCGACCCCCAAACACCCCTCCCCCAGGATGTCGGAGGAGATCATCACGCCGGTG
TACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATG
AGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAA
TTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAG
GGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGA
ATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGT
GTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGC
ACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGG
AGCGGGGCTCCCTGCTGGGCTGCTCCATAGACATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGT
GACCGGGGCCAAGCAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGAC
AGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGATGTCATTCCGAGACTTCATGC
GGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCG
GCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGAC
TACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCT
TCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCT
GCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTC
TTCTCAGAGAAGAGTGCTGGGACTGTGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGCAAGTGCTCTCAGAAGAGGAGATTGACGAGAACT
TCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACACAAAGACCT
GCGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCTCATGGATCGTGATGGCAATGGGAAGCTGGGCCTGGTGGAGTTCAACATCCTG
TGGAACCGCATCCGGAATTACCTGTCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGATGGCCATTGAGTCGG
CAGGCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGCCTGGT
GCGGCTAGAGACCATGTTCCGATTTTTCAAAACTCTGGACACAGATCTGGATGGAGTTGTGACCTTTGACTTGTTTAAGTGGTTGCAGCTGACCATGTTT
GCATGAGGCAGGGACTCGGTCCCCCTTGCCGTGCTCCCCTCCCTCCTCGTCTGCCAAGCCTCGCCTCCTACCACACCACACCAGGCCACCCCAGCTGCAA
GTGCCTTCCTTGGAGCAGAGAGGCAGCCTCGTCCTCCTGTCCCCTCTCCTCCCAGCCACCATCGTTCATCTGCTCCGGGCAGAACTGTGTGGCCCCTGCC
TGTGCCAGCCATGGGCTCGGGATGGACTCCCTGGGCCCCACCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTT
TCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAGGCCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAG
CTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCCGGCTCGGGGAGGCCCCGGGGCTGGGAACGCCTGTGCCTTCCTGCGCCGAAGCCAACGCC
CCCTCTGTCCTTCCCTGGCCCTGCTGCCGACCAGGAGCTGCCCAGCCTGTGGGCGGTCGGCCTTCCCTCCTTCGCTCCTTTTTTATATTAGTGATTTTAA
AGGGGACTCTTCAGGGACTTGTGTACTGGTTATGGGGGTGCCAGAGGCACTAGGCTTGGGGTGGGGAGGTCCCGTGTTCCATATAGAGGAACCCCAAATA
ATAAAAGGCCCCACATCTGTCTGTGAT


Protein Sequence     (SEQ ID NO:354):
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVD
GATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNG
SYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIR
LDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYELVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTFEPN
KEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDGNGK
LGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVTFDL
FKWLQLTMFA*



SNP Information


Context              (SEQ ID NO:1691):
CGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGAC
W
ATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCA
Celera SNP ID:                hCV32062227
SNP Position Transcript:      1893
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:354, 440,(T,ACT) (T,ACA)



Context              (SEQ ID NO:1692):
AGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGG
R
ACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGC
Celera SNP ID:                hCV25750711
SNP Position Transcript:      732
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,37)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:354, 53,(G,GGG) (G,GGA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:354, 53,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1693):
TTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCT
R
CCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCC
Celera SNP ID:                hCV25754261
SNP Position Transcript:      880
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,31|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:354, 103,(T,ACC) (A,GCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:354, 103,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1694):
CGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCC
S
CTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCT
Celera SNP ID:                hCV25600642
SNP Position Transcript:      1871
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,24)  african american(C,0|G,22)  total(C,4|G,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:354, 433,(R,CGC) (P,CCC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:354, 433,(R,CGC) (P,CCC)



Context              (SEQ ID NO:1695):
GGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGG
Y
GCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAG
Celera SNP ID:                hCV25600656
SNP Position Transcript:      1976
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:354, 468,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1696):
CCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCAT
Y
GCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGC
Celera SNP ID:                hCV2756556
SNP Position Transcript:      936
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,4) ; no_pop(C,1020|T,316)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:354, 121,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1697):
CCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAG
S
CCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCC
Celera SNP ID:                hCV27467214
SNP Position Transcript:      3041
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:354, None



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT1957105 - 84000314230990
Public Transcript Accession:
Celera Protein:               hCP1766293 - 197000069466333
Public Protein Accession:
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:94):
CGCAGCGAGCCCGGTCCCCCTGCGTTCCCCGGGGAGCGCTGAGCCGGGACGCGGCGGTGGGGTGGGGAAGGGGAGTGGCGCGGCCCTGCGGGGTGAGGCT
GCCGTTTGCTGAGTGTCCGGCAGGGGTCTGCTCGCTGCCAGCCCGGCCCCTCCTCAGAGCAGCTGCCGCAGCCCGAGGATGTCGGAGGAGATCATCACGC
CGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGA
TTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGT
CCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCT
GCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTT
CCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAG
CTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGGTAAATGGCAGCTACGAGGCCCTGTCAGGGG
GCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGC
GCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTAC
TCTGTGACCGGGGCCAAGCAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGA
GCGACAGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGATGTCATTCCGAGACTT
CATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACC
TGGCGGCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGG
ACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTAT
TGGCTTCGCGGTCTACGAGGTCAGGAGGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAG
CAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACT
TCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGCAAGTGCTCTCAGAAGAGGA
GATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGC
AAACACAAAGACCTGCGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCTCATGGATCGTGATGGCAATGGGAAGCTGGGCCTGGTGG
AGTTCAACATCCTGTGGAACCGCATCCGGAATTACCTGTCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGAT
GGCCATTGAGTCGGCAGGCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTC
GTTTGCTGCCTGGTGCGGCTAGAGACCATGTTCCGATTTTTCAAAACTCTGGACACAGATCTGGATGGAGTTGTGACCTTTGACTTGTTTAAGTGGTTGC
AGCTGACCATGTTTGCATGAGGCAGGGACTCGGTCCCCCTTGCCGTGCTCCCCTCCCTCCTCGTCTGCCAAGCCTCGCCTCCTACCACACCACACCAGGC
CACCCCAGCTGCAAGTGCCTTCCTTGGAGCAGAGAGGCAGCCTCGTCCTCCTGTCCCCTCTCCTCCCAGCCACCATCGTTCATCTGCTCCGGGCAGAACT
GTGTGGCCCCTGCCTGTGCCAGCCATGGGCTCGGGATGGACTCCCTGGGCCCCACCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGG
GACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAGGCCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAA
ACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCCGGCTCGGGGAGGCCCCGGGGCTGGGAACGCCTGTGCCTTCCTGCG
CCGAAGCCAACGCCCCCTCTGTCCTTCCCTGGCCCTGCTGCCGACCAGGAGCTGCCCAGCCTGTGGGCGGTCGGCCTTCCCTCCTTCGCTCCTTTTTTAT
ATTAGTGATTTTAAAGGGGACTCTTCAGGGACTTGTGTACTGGTTATGGGGGTGCCAGAGGCACTAGGCTTGGGGTGGGGAGGTCCCGTGTTCCATATAG
AGGAACCCCAAATAATAAAAGGCCCCACATCTGTCTGTGAT


Protein Sequence     (SEQ ID NO:355):
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVD
GATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNG
SYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIR
LDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVRRLVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTF
EPNKEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDG
NGKLGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVT
FDLFKWLQLTMFA*



SNP Information


Context              (SEQ ID NO:1698):
CGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGAC
W
ATTGGCTTCGCGGTCTACGAGGTCAGGAGGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAG
Celera SNP ID:                hCV32062227
SNP Position Transcript:      1498
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:355, 440,(T,ACT) (T,ACA)



Context              (SEQ ID NO:1699):
AGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGG
R
ACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGC
Celera SNP ID:                hCV25750711
SNP Position Transcript:      337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,37)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:355, 53,(G,GGG) (G,GGA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:355, 53,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1700):
TTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCT
R
CCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCC
Celera SNP ID:                hCV25754261
SNP Position Transcript:      485
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,31|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:355, 103,(T,ACC) (A,GCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:355, 103,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1701):
CGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCC
S
CTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCC
Celera SNP ID:                hCV25600642
SNP Position Transcript:      1476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,24)  african american(C,0|G,22)  total(C,4|G,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:355, 433,(R,CGC) (P,CCC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:355, 433,(R,CGC) (P,CCC)



Context              (SEQ ID NO:1702):
ATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGG
Y
GCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAG
Celera SNP ID:                hCV25600656
SNP Position Transcript:      1590
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:355, 471,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1703):
CCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCAT
Y
GCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGC
Celera SNP ID:                hCV2756556
SNP Position Transcript:      541
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,4) ; no_pop(C,1020|T,316)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:355, 121,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1704):
CCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAG
S
CCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCC
Celera SNP ID:                hCV27467214
SNP Position Transcript:      2655
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:355, None



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT2310082 - 84000314230965
Public Transcript Accession:
Celera Protein:               hCP1903068 - 197000069466332
Public Protein Accession:
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:95):
GGGAACGGCGGGAGCAGCTGCGGTCGCGCGGAGCGAGGGGAGCTGGGGACCGGGCGGGCCCGGGGCTGCGGGAGGCGGCGCCGCCGCACAATCGCCCCGG
AATGCCCGCCAGGGCGCGCGTGGGGTGCGGCCGTCCGGCCCTGCAACTCGAGCTGCTGCCCCTGGTTAAAAATACCCCTTGCCCGCCCCTCCCCCTCGTT
TCCCCGCGTGCCCTTCCGCCGCGCCCCAGCCCCCGCATGTCCCCCCGCGCTGGCCCCTCCCCGGGGACTGCTCTGCCTTTTACTAATTTGTCCTCTCGCG
GAATTGGCCCCCGGCTGCGGAGGGAGGGGCGGGGAGACACCGTGAGTAAGAGATAGTCAGAGACCGTGCCGGAGAGATAAGGGAGAGCCGAGAGGAAGCG
GGGTAGGAGCCCCAGGAGGAGGAGGAGGAGAAGGAGAGAGGGAGGGCGGAGGGCGGAGGGGCGGCGGGAGGAGGGCGGGGAGGAGCGCTCTTCCTGGTTG
GGCCCTGCCCTGAGCTGCCACCGGGAAGCCAGCCTCAGGGACTGCAGCGACCCCCAAACACCCCTCCCCCAGGATGTCGGAGGAGATCATCACGCCGGTG
TACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATG
AGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAA
TTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAG
GGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGA
ATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGT
GTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGC
ACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGG
AGCGGGGCTCCCTGCTGGGCTGCTCCATAGACATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGT
GACCGGGGCCAAGCAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGAC
AGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGATGTCATTCCGAGACTTCATGC
GGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCG
GCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGAC
TACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCT
TCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTT
CATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTG
CTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGCAAGTGCTCTCAGAAGAGGAGATTG
ACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACA
CAAAGACCTGCGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCTCATGGATCGTGATGGCAATGGGAAGCTGGGCCTGGTGGAGTTC
AACATCCTGTGGAACCGCATCCGGAATTACCTGTCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGATGGCCA
TTGAGTCGGCAGGCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTG
CTGCCTGGTGCGGCTAGAGACCATGTTCCGATTTTTCAAAACTCTGGACACAGATCTGGATGGAGTTGTGACCTTTGACTTGTTTAAGTGGTTGCAGCTG
ACCATGTTTGCATGAGGCAGGGACTCGGTCCCCCTTGCCGTGCTCCCCTCCCTCCTCGTCTGCCAAGCCTCGCCTCCTACCACACCACACCAGGCCACCC
CAGCTGCAAGTGCCTTCCTTGGAGCAGAGAGGCAGCCTCGTCCTCCTGTCCCCTCTCCTCCCAGCCACCATCGTTCATCTGCTCCGGGCAGAACTGTGTG
GCCCCTGCCTGTGCCAGCCATGGGCTCGGGATGGACTCCCTGGGCCCCACCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAG
CCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAGGCCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTAT
AACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCCGGCTCGGGGAGGCCCCGGGGCTGGGAACGCCTGTGCCTTCCTGCGCCGAA
GCCAACGCCCCCTCTGTCCTTCCCTGGCCCTGCTGCCGACCAGGAGCTGCCCAGCCTGTGGGCGGTCGGCCTTCCCTCCTTCGCTCCTTTTTTATATTAG
TGATTTTAAAGGGGACTCTTCAGGGACTTGTGTACTGGTTATGGGGGTGCCAGAGGCACTAGGCTTGGGGTGGGGAGGTCCCGTGTTCCATATAGAGGAA
CCCCAAATAATAAAAGGCCCCACATCTGTCTGTGAT


Protein Sequence     (SEQ ID NO:356):
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVD
GATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNG
SYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIR
LDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYESHQLVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTF
EPNKEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDG
NGKLGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVT
FDLFKWLQLTMFA*



SNP Information


Context              (SEQ ID NO:1705):
CGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGAC
W
ATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAG
Celera SNP ID:                hCV32062227
SNP Position Transcript:      1893
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:356, 440,(T,ACT) (T,ACA)



Context              (SEQ ID NO:1706):
AGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGG
R
ACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGC
Celera SNP ID:                hCV25750711
SNP Position Transcript:      732
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,37)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:356, 53,(G,GGG) (G,GGA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:356, 53,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1707):
TTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCT
R
CCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCC
Celera SNP ID:                hCV25754261
SNP Position Transcript:      880
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,31|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:356, 103,(T,ACC) (A,GCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:356, 103,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1708):
CGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCC
S
CTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCC
Celera SNP ID:                hCV25600642
SNP Position Transcript:      1871
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,24)  african american(C,0|G,22)  total(C,4|G,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:356, 433,(R,CGC) (P,CCC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:356, 433,(R,CGC) (P,CCC)



Context              (SEQ ID NO:1709):
ATGGAGACTATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGG
Y
GCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAG
Celera SNP ID:                hCV25600656
SNP Position Transcript:      1985
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:356, 471,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1710):
CCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCAT
Y
GCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGC
Celera SNP ID:                hCV2756556
SNP Position Transcript:      936
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,4) ; no_pop(C,1020|T,316)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:356, 121,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1711):
CCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAG
S
CCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCC
Celera SNP ID:                hCV27467214
SNP Position Transcript:      3050
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:356, None



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT2310084 - 84000314231064
Public Transcript Accession:
Celera Protein:               hCP1903072 - 197000069466336
Public Protein Accession:
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:96):
CTCCCCTTCTCGGTCCAGCAAGTGCTCTCAGAAGAGGAGATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGACATGGAGATCAGCG
TGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACACAAAGACCTGCGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCT
CATGGATGTATCCTTCCGTTTGCTTTTGTCTCCTGAGTGGGGTTTTGGGTGGAGCCCCAAGTCGACTTGCCGGCTCGGCGGCCATCTCCCCTTCTGCACA
GTTGCCCACTCTCCCATGACTGGTCTAAGTGATGGAATTTCCTTCTTAACGGCCACCCAGCGTGATGGCAATGGGAAGCTGGGCCTGGTGGAGTTCAACA
TCCTGTGGAACCGCATCCGGAATTACCTGTCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGATGGCCATTGA
GTCGGCAGGCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGC
CTGGTGCGGCTAGAGACCATGTTCCGTGAGTGTCCCCAACTGCCTCCCACCCTCCAGCTCCGTCCCAAACGCGTCCCCCAGGAGCTGGGGGGAATGACAG
ATGGG


Protein Sequence     (SEQ ID NO:357):
MEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDVSFRLLLSPEWGFGWSPKSTCRLGGHLPFCTVAHSPMTGLSDGISFLTATQRDGNGKLGL
VEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRECPQLPPTLQLRPKRVPQEL
GGMTDG



SNP Information


Context              (SEQ ID NO:1712):
TCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGCCTGGTGCGGCTAGAGACCATGTTCCGTGAGTGTCCCCA
R
CTGCCTCCCACCCTCCAGCTCCGTCCCAAACGCGTCCCCCAGGAGCTGGGGGGAATGACAGATGGG
Celera SNP ID:                hCV3251113
SNP Position Transcript:      639
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1080|G,2112) ; no_pop(A,2|G,10) ; no_pop(A,-|G,-) ; no_pop(A,
280|G,416) ; no_pop(A,30|G,206)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:357, 184,(Q,CAA) (Q,CAG)



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT2310086 - 84000314231040
Public Transcript Accession:
Celera Protein:               hCP1903071 - 197000069466335
Public Protein Accession:
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:97):
CGGGAAAGGAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTGGATTCACTGGGAGCACCGGGAGGTGGCTGAGAACCCTACTTCTGTGAG
GGGAGCAGTGAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAGGAGAGCAGAGCTTGCAGGCAGGAGCCCAGGTTCTAGTCTTGGGAAGG
CCTGGGTTCTGAGCAGGCCCATCTGTCCGGCAGGATGTCGGAGGAGATCATCACGCCGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGG
GCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCT
TCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCAC
GGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCC
TCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGCAAT
TTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGC
CCTGCTTGAGAAGGCCTATGCCAAGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACC
GAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACATCTCCA
GCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAGCAGGTGAACTACCGAGGCCAGGTGGT
GAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGACAGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGG
GACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGATGTCATTCCGAGACTTCATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCG
ACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCGGCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGC
CACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCC
CTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGG
CCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCC
ACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGGAG
CTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGCAAGTGCTCTCAGAAGAGGAGATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGG
AGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACACAAAGACCTGCGGACCAAGGGCTTCAGCCTAGAGTCGTG
CCGCAGCATGGTGAACCTCATGGATCGTGATGGCAATGGGAAGCTGGGCCTGGTGGAGTTCAACATCCTGTGGAACCGCATCCGGAATTACCTGTCCATC
TTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGATGGCCATTGAGTCGGCAGGCTTCAAGCTCAACAAGAAGCTGTACG
AGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGCCTGGTGCGGCTAGAGACCATGTTCCGATTTTTCAA
AACTCTGGACACAGATCTGGATGGAGTTGTGACCTTTGACTTGTTTAAGTGGTTGCAGCTGACCATGTTTGCATGAGGCAGGGACTCGGTCCCCCTTGCC
GTGCTCCCCTCCCTCCTCGTCTGCCAAGCCTCGCCTCCTACCACACCACACCAGGCCACCCCAGCTGCAAGTGCCTTCCTTGGAGCAGAGAGGCAGCCTC
GTCCTCCTGTCCCCTCTCCTCCCAGCCACCATCGTTCATCTGCTCCGGGCAGAACTGTGTGGCCCCTGCCTGTGCCAGCCATGGGCTCGGGATGGACTCC
CTGGGCCCCACCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCC
CACTTCAGAGGCCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGG
AGCCGCCTCCCGGCTCGGGGAGGCCCCGGGGCTGGGAACGCCTGTGCCTTCCTGCGCCGAAGCCAACGCCCCCTCTGTCCTTCCCTGGCCCTGCTGCCGA
CCAGGAGCTGCCCAGCCTGTGGGCGGTCGGCCTTCCCTCCTTCGCTCCTTTTTTATATTAGTGATTTTAAAGGGGACTCTTCAGGGACTTGTGTACTGGT
TATGGGGGTGCCAGAGGCACTAGGCTTGGGGTGGGGAGGTCCCGTGTTCCATATAGAGGAACCCCAAATAATAAAAGGCCCCACATCTGTCTGTGAT


Protein Sequence     (SEQ ID NO:358):
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVD
GATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNG
SYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIR
LDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYESHQLVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTF
EPNKEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDG
NGKLGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVT
FDLFKWLQLTMFA*



SNP Information


Context              (SEQ ID NO:1713):
CGGGAAAGGAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTG
S
ATTCACTGGGAGCACCGGGAGGTGGCTGAGAACCCTACTTCTGTGAGGGGAGCAGTGAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAG
Celera SNP ID:                hDV71078517
SNP Position Transcript:      53
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:358, None



Context              (SEQ ID NO:1714):
CGGGAAAGGAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTGGATTCACTGGGAGCAC
Y
GGGAGGTGGCTGAGAACCCTACTTCTGTGAGGGGAGCAGTGAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAGGAGAGCAGAGCTTGCA
Celera SNP ID:                hDV71078455
SNP Position Transcript:      69
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:358, None



Context              (SEQ ID NO:1715):
CGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGAC
W
ATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAG
Celera SNP ID:                hCV32062227
SNP Position Transcript:      1554
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:358, 440,(T,ACT) (T,ACA)



Context              (SEQ ID NO:1716):
GAGAGGTGGCCGGCACGCCTGGGAACTGGGAAATCCCTTTCCTGGATTCACTGGGAGCACCGGGAGGTGGCTGAGAACCCTACTTCTGTGAGGGGAGCAG
Y
GAGGCAGGGAAACCCTAGGTTTGGGGATGGATAAGCAGGGGCAGGAGAGCAGAGCTTGCAGGCAGGAGCCCAGGTTCTAGTCTTGGGAAGGCCTGGGTTC
Celera SNP ID:                hDV71078884
SNP Position Transcript:      109
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:358, None



Context              (SEQ ID NO:1717):
AGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGG
R
ACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGC
Celera SNP ID:                hCV25750711
SNP Position Transcript:      393
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,37)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:358, 53,(G,GGG) (G,GGA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:358, 53,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1718):
TTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCT
R
CCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCC
Celera SNP ID:                hCV25754261
SNP Position Transcript:      541
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,31|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:358, 103,(T,ACC) (A,GCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:358, 103,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1719):
CGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCC
S
CTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCC
Celera SNP ID:                hCV25600642
SNP Position Transcript:      1532
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,24)  african american(C,0|G,22)  total(C,4|G,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:358, 433,(R,CGC) (P,CCC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:358, 433,(R,CGC) (P,CCC)



Context              (SEQ ID NO:1720):
ATGGAGACTATTGGCTTCGCGGTCTACGAGTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGG
Y
GCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAG
Celera SNP ID:                hCV25600656
SNP Position Transcript:      1646
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:358, 471,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1721):
CCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCAT
Y
GCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGC
Celera SNP ID:                hCV2756556
SNP Position Transcript:      597
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,4) ; no_pop(C,1020|T,316)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:358, 121,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1722):
CCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAG
S
CCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCCGCCTCCC
Celera SNP ID:                hCV27467214
SNP Position Transcript:      2711
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:358, None



Gene Number:                  42
Celera Gene:                  hCG23396 - 84000314230964
Celera Transcript:            hCT2310087 - 84000314231073
Public Transcript Accession:  NM_005186
Celera Protein:               hCP1903073 - 197000069466337
Public Protein Accession:     NP_005177
Gene Symbol:                  CAPN1
Protein Name:                  calpain 1, (mu/I) large subunit
Celera Genomic Axis:          GA_x5YUV32VYAU(10617099..10659871)
Chromosome:                   11
OMIM NUMBER:                  114220
OMIM Information:


Transcript Sequence  (SEQ ID NO:98):
CGCAGCGAGCCCGGTCCCCCTGCGTTCCCCGGGGAGCGCTGAGCCGGGACGCGGCGGTGGGGTGGGGAAGGGGAGTGGCGCGGCCCTGCGGGGTGAGGCT
GCCGTTTGCTGAGTGTCCGGCAGGGGTCTGCTCGCTGCCAGCCCGGCCCCTCCTCAGAGCAGCTGCCGCAGCCCGAGGATGTCGGAGGAGATCATCACGC
CGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGA
TTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGT
CCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCT
GCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTT
CCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAG
CTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGGTAAATGGCAGCTACGAGGCCCTGTCAGGGG
GCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGC
GCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTAC
TCTGTGACCGGGGCCAAGCAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGA
GCGACAGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGATGTCATTCCGAGACTT
CATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACC
TGGCGGCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGG
ACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTAT
TGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATC
AACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGC
GCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGCAAGTGCTCTCAGAAGAGGAGATTGACGA
GAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACACAAA
GACCTGCGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCTCATGGATCGTGATGGCAATGGGAAGCTGGGCCTGGTGGAGTTCAACA
TCCTGTGGAACCGCATCCGGAATTACCTGTCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATGCGGATGGCCATTGA
GTCGGCAGGCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATCACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGC
CTGGTGCGGCTAGAGACCATGTTCCGATTTTTCAAAACTCTGGACACAGATCTGGATGGAGTTGTGACCTTTGACTTGTTTAAGTGGTTGCAGCTGACCA
TGTTTGCATGAGGCAGGGACTCGGTCCCCCTTGCCGTGCTCCCCTCCCTCCTCGTCTGCCAAGCCTCGCCTCCTACCACACCACACCAGGCCACCCCAGC
TGCAAGTGCCTTCCTTGGAGCAGAGAGGCAGCCTCGTCCTCCTGTCCCCTCTCCTCCCACCATGGGCTCGGGATGGACTCCCTGGGCCCCACCCATTGCC
AAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAGGCCACCCAC
TCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCTGCCCAGCCTGTGGGC
GGTCGGCCTTCCCTCCTTCGCTCCTTTTTTATATTAGTGATTTTAAAGGGGACTCTTCAGGGACTTGTGTACTGGTTATGGGGGTGCCAGAGGCACTAGG
CTTGGGGTGGGGAGGTCCCGTGTTCCATATAGAGGAACCCCAAATAATAAAAGGCCCCACATCTGTCTGTG


Protein Sequence     (SEQ ID NO:359):
MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQLRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVD
GATRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWVDVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNG
SYEALSGGSTSEGFEDFTGGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSVTGAKQVNYRGQVVSLIRMRNPWGE
VEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEFWMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFWVNPQFKIR
LDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYELVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTFEPN
KEGDFVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKELRTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDGNGK
LGLVEFNILWNRIRNYLSIFRKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRLETMFRFFKTLDTDLDGVVTFDL
FKWLQLTMFA*



SNP Information


Context              (SEQ ID NO:1723):
CGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGAC
W
ATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCA
Celera SNP ID:                hCV32062227
SNP Position Transcript:      1498
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:359, 440,(T,ACT) (T,ACA)



Context              (SEQ ID NO:1724):
AGCAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAGGATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGG
R
ACCCTCTTCCGTGATGAGGCCTTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGC
Celera SNP ID:                hCV25750711
SNP Position Transcript:      337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,37)  total(A,1|G,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:359, 53,(G,GGG) (G,GGA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:359, 53,(G,GGG) (G,GGA)



Context              (SEQ ID NO:1725):
TTACAAGGACCTGGGTCCCAATTCCTCCAAGACCTATGGCATCAAGTGGAAGCGTCCCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCT
R
CCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCC
Celera SNP ID:                hCV25754261
SNP Position Transcript:      485
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,31|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:359, 103,(T,ACC) (A,GCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:359, 103,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1726):
CGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCC
S
CTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCT
Celera SNP ID:                hCV25600642
SNP Position Transcript:      1476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,24)  african american(C,0|G,22)  total(C,4|G,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:359, 433,(R,CGC) (P,CCC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:359, 433,(R,CGC) (P,CCC)



Context              (SEQ ID NO:1727):
GGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGG
Y
GCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAG
Celera SNP ID:                hCV25600656
SNP Position Transcript:      1581
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:359, 468,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1728):
CCACGGAACTGCTGTCAAACCCCCAGTTCATTGTGGATGGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGGGGGACTGCTGGCTCTTGGCGGCCAT
Y
GCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGCTTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAGCTGTGGC
Celera SNP ID:                hCV2756556
SNP Position Transcript:      541
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,9|T,4) ; no_pop(C,1020|T,316)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:359, 121,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1729):
CCCATTGCCAAGCCAGGAAGGCAGCTTTCGCTTGTTCCTGCCTCGGGACAGCCCCGGGTTTCCCCAGCATCCTGATGTGTCCCCTCTCCCCACTTCAGAG
S
CCACCCACTCAGCACCACCGGCCTGGCCTTGCCTGCAGACTATAAACTATAACCACTAGCTCGACACAGTCTGCAGTCCAGGCGTGTGGAGCTGCCCAGC
Celera SNP ID:                hCV27467214
SNP Position Transcript:      2592
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:359, None



Gene Number:                  43
Celera Gene:                  hCG23415 - 104000117180361
Celera Transcript:            hCT14522 - 104000117180418
Public Transcript Accession:  NM_001958
Celera Protein:               hCP40825 - 197000069370191
Public Protein Accession:     NP_001949
Gene Symbol:                  EEF1A2
Protein Name:                  eukaryotic translation elongation factor 1 alpha 2
Celera Genomic Axis:          GA_x5YUV32VYHA(734098..811820)
Chromosome:                   20
OMIM NUMBER:                  602959
OMIM Information:


Transcript Sequence  (SEQ ID NO:99):
CCCCGCCGCGGGCTCTGCCCAGCAAGGCCCCGCCCATTACAGATGCCACCCATTACAGGCTCCTCCCACCGCAGGCTCCCCCCACCGCAGGCTCCTCAAC
CACAGGCTCCTCCCACCATGGGCTCCCCCCTCCCCCGCAACGGCCCCTCCCATCATAGGCTCCTCCCACCGCGGGCTCCCCCCACCACGGCCCCTCCCAC
CACAGGCTCCTCCCAGAGCAGGCTCCTCCCACCGCGGGCTCCCCTACTACGGCCCCTCCCACCACAGGGTCTTCCCACCACAGGCTCCTCCCAGCGCAGG
CTCCTCCCACCGCGGGCTCCCCCCACCACGGCCCCTCCCATCATAGGCTCCTCCCACTACAGGCTCCTCCCACTACAGGCTCCTCCCAGGCTGCAGCCCA
CCTGCTCCCCTCCCCCGCCTGCCGGCTCCGGTCCTCGGCGTCTGCCCTGTCCCCGGGGACCGCTTTTCGCGGCTCAAGCGTGTTCCTGCCCTGAGCCGGC
TCTCGCCCCGTCTCCCGGGCCCGCCGCGCTCTCCCCGCGCCGTCTCCGTCCCGGTCCCTCCCTCCCGCCGCCTCCCTGCCCTGCCCCCCGCCCCGCCCCC
GCCGCGGCGCGTTTCTCCCCCGCCTCCCGCGTCCGTCTTTGCAGCCCGCGCCTCCCGCATGCCCCTCGCGTCCCCGTGGCGCCCGCCCGCGCGCGTCCGC
GCCCCGCCCCCTCCCGCGCGGTTCCGCATTGGCGTGCTGCAGGGCGCGGTGCACTGCGCCGCCACCGTCAATAGGTGGACCCCCTCCCGGAGATAAAACC
GCCGGCGCCGGCGCCGCCAGTCCCTCTGGCTGAGACCTCGGCTCCGGAATCACTGCAGCCCCCCTCGCCCTGAGCCAGAGCACCCCGGGTCCCGCCAGCC
CCTCACACTCCCAGCAAAATGGGCAAGGAGAAGACCCACATCAACATCGTGGTCATCGGCCACGTGGACTCCGGAAAGTCCACCACCACGGGCCACCTCA
TCTACAAATGCGGAGGTATTGACAAAAGGACCATTGAGAAGTTCGAGAAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGA
CAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGC
CACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCT
CCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCGGC
CTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCC
GGCTGGCACGGCGACAACATGCTGGAGCCCTCCCCCAACATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGTCCC
TGCTGGAGGCCCTGGACACCATCCTGCCCCCCACGCGCCCCACGGACAAGCCCCTGCGCCTGCCGCTGCAGGACGTGTACAAGATTGGCGGCATTGGCAC
GGTGCCCGTGGGCCGGGTGGAGACCGGCATCCTGCGGCCGGGCATGGTGGTGACCTTTGCGCCAGTGAACATCACCACTGAGGTGAAGTCAGTGGAGATG
CACCACGAGGCTCTGAGCGAAGCTCTGCCCGGCGACAACGTCGGCTTCAATGTGAAGAACGTGTCGGTGAAGGACATCCGGCGGGGCAACGTGTGTGGGG
ACAGCAAGTCTGACCCGCCGCAGGAGGCTGCTCAGTTCACCTCCCAGGTCATCATCCTGAACCACCCGGGGCAGATTAGCGCCGGCTACTCCCCGGTCAT
CGACTGCCACACAGCCCACATCGCCTGCAAGTTTGCGGAGCTGAAGGAGAAGATTGACCGGCGCTCTGGCAAGAAGCTGGAGGACAACCCCAAGTCCCTG
AAGTCTGGAGACGCGGCCATCGTGGAGATGGTGCCGGGAAAGCCCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGCGCG
ACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGAGAAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGC
GGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTGCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCC
GGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCTTGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTGGAA
GTTCTTCAAGAGGAAAGGCGCCCCCGCCCCAGGCTTCCGCGCCCAGCGCTCGCCACGCTCAGTGCCCGTTTTACCAATAAACTGAGCGACCCCAG


Protein Sequence     (SEQ ID NO:360):
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIK
NMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDN
MLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAA
IVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK*



SNP Information


Context              (SEQ ID NO:1730):
AGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTA
Y
ACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCGGCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCA
Celera SNP ID:                hDV69170632
SNP Position Transcript:      1341
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 141,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1731):
AGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCCGGCTGGCACGG
Y
GACAACATGCTGGAGCCCTCCCCCAACATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGTCCCTGCTGGAGGCCC
Celera SNP ID:                hCV25762891
SNP Position Transcript:      1512
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,9)  african american(T,14|C,18)  total(T,35|C,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 198,(G,GGC) (G,GGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,10|T,4) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 198,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1732):
TCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCC
R
GCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCT
Celera SNP ID:                hCV11378018
SNP Position Transcript:      1398
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,816|A,674) ; no_pop(G,7|A,1) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 160,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1733):
CGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAA
R
TTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAG
Celera SNP ID:                hCV25600841
SNP Position Transcript:      1155
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,34|A,0)  total(G,69|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 79,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1734):
CCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGC
R
GGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAG
Celera SNP ID:                hCV16183022
SNP Position Transcript:      1293
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1434|A,68) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 125,(A,GCG) (A,GCA)



Context              (SEQ ID NO:1735):
AAAGGACCATTGAGAAGTTCGAGAAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCG
Y
GGCATCACCATCGACATCTCCCTCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGA
Celera SNP ID:                hCV25600840
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,32)  total(T,2|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 69,(R,CGC) (R,CGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 69,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1736):
GCTTTTCGCGGCTCAAGCGTGTTCCTGCCCTGAGCCGGCTCTCGCCCCGTCTCCCGGGCCCGCCGCGCTCTCCCCGCGCCGTCTCCGTCCCGGTCCCTCC
Y
TCCCGCCGCCTCCCTGCCCTGCCCCCCGCCCCGCCCCCGCCGCGGCGCGTTTCTCCCCCGCCTCCCGCGTCCGTCTTTGCAGCCCGCGCCTCCCGCATGC
Celera SNP ID:                hCV16068466
SNP Position Transcript:      562
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:360, None



Context              (SEQ ID NO:1737):
CCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGCGCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGA
R
AAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCG
Celera SNP ID:                hCV8892616
SNP Position Transcript:      2244
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:360, 442,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1738):
AGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGG
Y
GCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCGGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGC
Celera SNP ID:                hCV16068510
SNP Position Transcript:      2346
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:360, None



Context              (SEQ ID NO:1739):
GGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTGCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCG
S
TCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCTTGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTGGAAGT
Celera SNP ID:                hCV16068511
SNP Position Transcript:      2402
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:360, None



Gene Number:                  43
Celera Gene:                  hCG23415 - 104000117180361
Celera Transcript:            hCT2312440 - 104000117180553
Public Transcript Accession:  NM_001958
Celera Protein:               hCP1857064 - 197000069370198
Public Protein Accession:     NP_001949
Gene Symbol:                  EEF1A2
Protein Name:                  eukaryotic translation elongation factor 1 alpha 2
Celera Genomic Axis:          GA_x5YUV32VYHA(734098..811820)
Chromosome:                   20
OMIM NUMBER:                  602959
OMIM Information:


Transcript Sequence  (SEQ ID NO:100):
CGGTGCACTGCGCCGCCACCGTCAATAGGTGGACCCCCTCCCGGAGATAAAACCGCCGGCGCCGGCGCCGCCAGTCCCTCTGGCTGAGACCTCGGCTCCG
GCCCCTCACACTCCCAGCAAAATGGGCAAGGAGAAGACCCACATCAACATCGTGGTCATCGGCCACGTGGACTCCGGAAAGTCCACCACCACGGGCCACC
TCATCTACAAATGCGGAGGTATTGACAAAAGGACCATTGAGAAGTTCGAGAAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCT
GGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCC
GGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCA
TCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCC
GGCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATC
TCCGGCTGGCACGGCGACAACATGCTGGAGCCCTCCCCCAACATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGT
CCCTGCTGGAGGCCCTGGACACCATCCTGCCCCCCACGCGCCCCACGGACAAGCCCCTGCGCCTGCCGCTGCAGGACGTGTACAAGATTGGCGGCATTGG
CACGGTGCCCGTGGGCCGGGTGGAGACCGGCATCCTGCGGCCGGGCATGGTGGTGACCTTTGCGCCAGTGAACATCACCACTGAGGTGAAGTCAGTGGAG
ATGCACCACGAGGCTCTGAGCGAAGCTCTGCCCGGCGACAACGTCGGCTTCAATGTGAAGAACGTGTCGGTGAAGGACATCCGGCGGGGCAACGTGTGTG
GGGACAGCAAGTCTGACCCGCCGCAGGAGGCTGCTCAGTTCACCTCCCAGGTCATCATCCTGAACCACCCGGGGCAGATTAGCGCCGGCTACTCCCCGGT
CATCGACTGCCACACAGCCCACATCGCCTGCAAGTTTGCGGAGCTGAAGGAGAAGATTGACCGGCGCTCTGGCAAGAAGCTGGAGGACAACCCCAAGTCC
CTGAAGTCTGGAGACGCGGCCATCGTGGAGATGGTGCCGGGAAAGCCCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGC
GCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGAGAAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAA
GGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTGCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGC
GCCGGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCTTGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTG
GAAGTTCTTCAAGAGGAAAGGCGCCCCCGCCCCAGGCTTCCGCGCCCAGCGCTCGCCACGCTCAGTGCCCGTTTTACCAATAAACTGAGCGACCCCAG


Protein Sequence     (SEQ ID NO:361):
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIK
NMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDN
MLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAA
IVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK*



SNP Information


Context              (SEQ ID NO:1740):
AGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTA
Y
ACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCGGCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCA
Celera SNP ID:                hDV69170632
SNP Position Transcript:      544
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 141,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1741):
AGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCCGGCTGGCACGG
Y
GACAACATGCTGGAGCCCTCCCCCAACATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGTCCCTGCTGGAGGCCC
Celera SNP ID:                hCV25762891
SNP Position Transcript:      715
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,9)  african american(T,14|C,18)  total(T,35|C,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 198,(G,GGC) (G,GGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,10|T,4) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 198,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1742):
TCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCC
R
GCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCT
Celera SNP ID:                hCV11378018
SNP Position Transcript:      601
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,816|A,674) ; no_pop(G,7|A,1) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 160,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1743):
CGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAA
R
TTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAG
Celera SNP ID:                hCV25600841
SNP Position Transcript:      358
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,34|A,0)  total(G,69|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 79,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1744):
CCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGC
R
GGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAG
Celera SNP ID:                hCV16183022
SNP Position Transcript:      496
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1434|A,68) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 125,(A,GCG) (A,GCA)



Context              (SEQ ID NO:1745):
AAAGGACCATTGAGAAGTTCGAGAAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCG
Y
GGCATCACCATCGACATCTCCCTCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGA
Celera SNP ID:                hCV25600840
SNP Position Transcript:      328
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,32)  total(T,2|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 69,(R,CGC) (R,CGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 69,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1746):
CCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGCGCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGA
R
AAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCG
Celera SNP ID:                hCV8892616
SNP Position Transcript:      1447
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:361, 442,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1747):
AGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGG
Y
GCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCGGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGC
Celera SNP ID:                hCV16068510
SNP Position Transcript:      1549
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:361, None



Context              (SEQ ID NO:1748):
GGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTGCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCG
S
TCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCTTGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTGGAAGT
Celera SNP ID:                hCV16068511
SNP Position Transcript:      1605
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:361, None



Gene Number:                  43
Celera Gene:                  hCG23415 - 104000117180361
Celera Transcript:            hCT2312442 - 104000117180362
Public Transcript Accession:  NM_001958
Celera Protein:               hCP1857053 - 197000069370187
Public Protein Accession:     NP_001949
Gene Symbol:                  EEF1A2
Protein Name:                  eukaryotic translation elongation factor 1 alpha 2
Celera Genomic Axis:          GA_x5YUV32VYHA(734098..811820)
Chromosome:                   20
OMIM NUMBER:                  602959
OMIM Information:


Transcript Sequence  (SEQ ID NO:101):
AATCACTGCAGCCCCCCTCGCCCTGAGCCAGAGCACCCCGGGTCCCGCCAGCCCCTCACACTCCCAGCAAAATGGGCAAGGAGAAGACCCACATCAACAT
CGTGGTCATCGGCCACGTGGACTCCGGAAAGTCCACCACCACGGGCCACCTCATCTACAAATGCGGAGGTATTGACAAAAGGACCATTGAGAAGTTCGAG
AAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCC
TCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGA
CTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTG
GGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCGGCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCT
ACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCCGGCTGGCACGGCGACAACATGCTGGAGCCCTCCCCCAACATGCCGTG
GTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGTCCCTGCTGGAGGCCCTGGACACCATCCTGCCCCCCACGCGCCCCACGGAC
AAGCCCCTGCGCCTGCCGCTGCAGGACGTGTACAAGATTGGCGGCATTGGCACGGTGCCCGTGGGCCGGGTGGAGACCGGCATCCTGCGGCCGGGCATGG
TGGTGACCTTTGCGCCAGTGAACATCACCACTGAGGTGAAGTCAGTGGAGATGCACCACGAGGCTCTGAGCGAAGCTCTGCCCGGCGACAACGTCGGCTT
CAATGTGAAGAACGTGTCGGTGAAGGACATCCGGCGGGGCAACGTGTGTGGGGACAGCAAGTCTGACCCGCCGCAGGAGGCTGCTCAGTTCACCTCCCAG
GTCATCATCCTGAACCACCCGGGGCAGATTAGCGCCGGCTACTCCCCGGTCATCGACTGCCACACAGCCCACATCGCCTGCAAGTTTGCGGAGCTGAAGG
AGAAGATTGACCGGCGCTCTGGCAAGAAGCTGGAGGACAACCCCAAGTCCCTGAAGTCTGGAGACGCGGCCATCGTGGAGATGGTGCCGGGAAAGCCCAT
GTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGCGCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGAGAAG
AAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTG
CCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCGGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCT
TGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTGGAAGTTCTTCAAGAGGAAAGGCGCCCCCGCCCCAGGCTTCCGCGCCCAGC
GCTCGCCACGCTCAGTGCCCGTTTTACCAATAAACTGAGCGACCCCAG


Protein Sequence     (SEQ ID NO:362):
MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDISLWKFETTKYYITIIDAPGHRDFIK
NMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIVGVNKMDSTEPAYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDN
MLEPSPNMPWFKGWKVERKEGNASGVSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAELKEKIDRRSGKKLEDNPKSLKSGDAA
IVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGKVTKSAQKAQKAGK*



SNP Information


Context              (SEQ ID NO:1749):
AGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTA
Y
ACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCGGCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCA
Celera SNP ID:                hDV69170632
SNP Position Transcript:      494
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 141,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1750):
AGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCCGGCTGGCACGG
Y
GACAACATGCTGGAGCCCTCCCCCAACATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAGGGCAACGCAAGCGGCGTGTCCCTGCTGGAGGCCC
Celera SNP ID:                hCV25762891
SNP Position Transcript:      665
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,9)  african american(T,14|C,18)  total(T,35|C,27)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 198,(G,GGC) (G,GGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,10|T,4) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 198,(G,GGC) (G,GGT)



Context              (SEQ ID NO:1751):
TCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCC
R
GCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAGATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCT
Celera SNP ID:                hCV11378018
SNP Position Transcript:      551
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,816|A,674) ; no_pop(G,7|A,1) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 160,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1752):
CGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAA
R
TTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAG
Celera SNP ID:                hCV25600841
SNP Position Transcript:      308
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,1)  african american(G,34|A,0)  total(G,69|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 79,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1753):
CCCCCGGCCACCGCGACTTCATCAAGAACATGATCACGGGTACATCCCAGGCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTGGGCGAGTTCGAGGC
R
GGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCCTACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAG
Celera SNP ID:                hCV16183022
SNP Position Transcript:      446
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1434|A,68) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 125,(A,GCG) (A,GCA)



Context              (SEQ ID NO:1754):
AAAGGACCATTGAGAAGTTCGAGAAGGAGGCGGCTGAGATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTGGACAAGCTGAAGGCGGAGCGTGAGCG
Y
GGCATCACCATCGACATCTCCCTCTGGAAGTTCGAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAGAACATGA
Celera SNP ID:                hCV25600840
SNP Position Transcript:      278
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,32)  total(T,2|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 69,(R,CGC) (R,CGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 69,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1755):
CCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCTCTCGGCCGCTTCGCCGTGCGCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAACGTGGA
R
AAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCG
Celera SNP ID:                hCV8892616
SNP Position Transcript:      1397
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:362, 442,(E,GAG) (E,GAA)



Context              (SEQ ID NO:1756):
AGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAGGCGGGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGG
Y
GCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCGGTCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGC
Celera SNP ID:                hCV16068510
SNP Position Transcript:      1499
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:362, None



Context              (SEQ ID NO:1757):
GGCAAGTGAAGCGCGGGCGCCCGCGGCGCGACCCTCCCCGGCGGTGCCGCGCTCCGAACCCCGGGCCCGGGCCCCCGCCCCGCCCCCGCCCCGCGCGCCG
S
TCCGGCGCCCCGCACCCCCGCCAGGCGCATGTCTGCACCTCCGCTTGCCAGAGGCCCTCGGTCAGCGACTGGATGCTCGCCATCAAGGTCCAGTGGAAGT
Celera SNP ID:                hCV16068511
SNP Position Transcript:      1555
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:362, None



Gene Number:                  44
Celera Gene:                  hCG23418 - 104000117180308
Celera Transcript:            hCT14525 - 104000117180309
Public Transcript Accession:
Celera Protein:               hCP40833 - 197000069370181
Public Protein Accession:
Gene Symbol:                  PRIC285
Protein Name:                  peroxisomal proliferator-activated receptor A interacting complex 285
Celera Genomic Axis:          GA_x5YUV32VYHA(713279..741688)
Chromosome:                   20
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:102):
GGCCAGAATCGAAACTGAGAGCTCCTGGGCAGGCTCGGCAGGGCAGGCAGCTCCAGGAGGGCTTCGAACCGTGGCCAACAGTTCCAGTGGACTGCGTGGA
CCCGTGAGCTCAGGAGCCTCAGACGCCTCCCTGGAGAGCCAAGCTGGTGTTCGAGGTGGCGCCTCCAGGGTCCACCCTGCTGCCCAACAGCCCCGCGGCC
ACCAGAGGGCCGTCCCTGGCCCGGCTGTGTGCCCTGGTGGACCTGTGTCTGGGCTGCTCCCGCTGCACCCAGCGGCTCAATGAAAGCACCTACGTCCTCC
GTAGGGTGGAGCATGACTGCTCCCGCGAGATCCTGCTGGCCCGCTTTAAGCAGGCCACCAAGAGCAAGGTCTGGCGCGTGGTGGGCTGCCGGCCCACCTT
CCCAAGGCCCCTGTGCTACCAAGTCTGCCACTACTACAGCCCTGGGCTCGGCTGCCGGCGCCACCGAAACCGGTGCACCTTTGCCCGCAGTCGCGAGGAG
GCCCTGGTCTGGACCTTCGAGCGTCAGCACAACCTCCAGCGCCTATGGCTGAAGGCGGAGGTGCAGGGCAGCGGGGCCCAGGGAGGGGCAGGCCGGGCGG
CCGACGCCATCCTTACGGAGTTTGGCGGCCGCTTCGAGCTGCTTTGCTCCCTCTGCTTCAGGCGCTGTCCCCCATGCATCTGTCGCGTGGACCCCCAGGG
GCAGTGCCCTGAGCACGGAGCCTGCCCCTCCCTCCTGGCCCACGTGAGCGCCGAGGGCCGCCGCAAGCAACAGTTTGTGGTGGTGAGGCCGCGGCCCCGG
GCCGGCCAGCCTCCTGCCTACTGCAGGTTTGTGGGGCGTGGGCAGCCGTGCTGGCGTGGGGAGTCCCGCTGCCAGTTTGCACACAGCGCCGTGGAGATGG
CTGTGTGGGAGGCCGAGCAGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGGCGCACGGCCCCCCTTGGCCAGCC
CCCTGGGGCCCAGCTGTACTGCCCGGCCTGCTTGGTCACCTGCCACTCTCAGGAGGCCTTCGAGAACCACTGCGCATCCTCGGAGCACGCACAGATGGTG
GCCTTCGACCAGGCCCTGCCCTGGGAGCACCGTTCCCCACCCCCGGGACTCTCCAAGTTCGAGCTCTGCCCAAAGCCTGACCTCTGTGAGTATGGGGACG
CCTGCACCAAGGCACACTCAGCACAGGAGCTGCAGGAGTGGGTCCGGCGCACGCAGGCTGTGGAGCTGCGGGGGCAGGCGGCCTGGCAGGACGGGCTGGT
GCCCTACCAGGAGCGGCTGCTGGCCGAGTACCAGCGCAGCAGCAGTGAGGTCCTTGTGCTGGCAGAGACCCTTGATGGAGTGCGTGTCACCTGCAACCAG
CCCCTGATGTACCAGGCCCAGGAGAGGAAGACCCAGTACAGCTGGACGTTTGCCGTCCACTCTGAGGAGCCCCTGCTACACGTGGCCCTGCTGAAGCAGG
AGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTT
CCAGGTGGGAGTGCGTGTGCAGGCCGCCTCGTTCGGCACCTTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGG
CTGCAGCTGGGCCAGGGGCGTCGCCCAGGACCCTGCAGGAATCTGGCGCTCGGCCACCCTGAGGAGATGGAGCGCTGGCACACTGGCAACCGCCACGTGG
TGCCTGGCGTGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAGTACAAGGGCCCTGCCCTGGCCCTGGAGTTCAACCGCAGCAGCGTGGCCTCGGG
CCCCATCTCGCCAACCAACTATCGGCAGAGGATGCACCAGTTTCTCTATGAGGAGGAGGCGGCTCAGCAGCAGCTGGTGGCCAAGCTGACCCTGCGGGGC
CAGGTGTTCCTGAAGACGGCATTGCAGACGCCAGCGCTGAACATGCTCTTCGCGCCTCCGGGAGCACTGTACGCAGAGGTCCCCGTCCCCTCCTCCCTGA
TGCCAGACACAGACCAGGGCTTCCTGCTGGGCCGGGCGGTCAGCACAGCCCTGGTGGCCCCTGTACCTGCACCCGACAATACGGTGTTCGAGGTGCGGCT
GGAGAGGCGGGCCAGCTCAGAGCAGGCGCTGTGGCTGCTGCTTCCGGCCCGCTGCTGCTTGGCCCTGGGGCTGCAGCCTGAGGCCCGCCTGGTCCTGGAG
GTGCAGTTCCAGATTGACCCGATGACCTTCCGCCTCTGGCACCAGGCAGTGGACACACTGCCTGAGGAGCAGCTGGTGGTGCCCGACTTGCCCACCTGCG
CCCTGCCCAGACCTTGGTCTGTCCCACCCTTGCGGCGTGGCAACCGCAAGCAGGAGCTGGCCGTGGCGCTCATCGCGGGCTGGGGCCCTGGGGATGGGAG
GCGTGTCCCCCCGCTACTCATCTATGGCCCCTTTGGCACCGGCAAGACCTACACGCTGGCCATGGCCTCCCTGGAGGTCATCCGGAGGCCTGAAACCAAG
GTGCTCATCTGCACACACACCAACAGTGCCGCCGACATCTACATCCGGGAGTATTTCCACAGCCACGTCAGCGGCGGCCACCCCGAGGCCACTCCTCTCC
GTGTGATGTACACGGACCGGCCGCTGAGCCAGACGGACCCAGTCACGCTGCAGTACTGTTGCCTGACCGACGACCGCCAGGCTTTCCGCCCGCCCACACG
GGCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAG
GCGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCC
GGCTGTTCAGTGTGGCCAGGGCCCGGGCGGCCGAGCACACGCTGCTGCACCGCCTCTTCCTGTGCTACCAGCAGGAGACTCACGAGGTGGCGCGGCAGAG
CCGCCTGGTCTTCCACGAGAACTACCGCTGCACGGACGCCATTGTCAGCTTCATCTCGCGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGG
GGCAAGGTTCCGCCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCAACCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGG
CTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCGCGAGCAGAGGTGCATCTGTGTCGTTTCCCA
CGGTGCCCAGTTCCGGGTCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGC
GTGCTCAACACCGTCCTGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGA
GCTTCATCCGTGAGTGCGTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCC
CCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCAGGCGGCTGTGGTGACGGCCATGGTG
AAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTGCGGCAGCACCAGCAGGAGACGCAG
TGAAGGAAGACGTGGTGCCCGGGGCCTGTGCGGCAGGAGCGGCTGCTGCAGCGGGCGTGGAGTCCACGGAGGCTGAGGATGCAGAGGCTGACTTCTGGCC
GTGGGACGGGGAGCTCAACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGAC
ACCGTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACC
GCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAGGTCAGGGGCCGCCTGGACTG
TGGGATGGCCTTCGCCGGGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGGCGGCTTCGGGGCCGCGTGCTGGGCGTGCTGAAG
AGGAAGAGGCACGAGCTGGCGTTTGTGTGCCGCATGGACACGTGGGACCCGCGCATCATGGTCCCCATCAATGGCTCCGTGACCAAGATCTTCGTGGCCG
AGCTGAAGGACCCATCGCAGGTCCCCATCTACAGCCTCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCG
GCTCTTCTGGGTCCAAATTGTCCTGTGGCGGCAAGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGC
CTCCGCATCCTCGGCCTGGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGG
TTGCCGGCCGCCGAGAGGACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGG
TCCCAGGTGCGAGGTGGCTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCAGGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTC
TATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGT
TCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGA
GGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTG
CGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGA
TTCAGTTTAATAGGCTCGTGGCTGAGTTCCTGGTGGGCAGCGAGTGCACGCGGACGGTCACGCCTCTGCGGTGGCAGCCAGCACCCCGCAGCCAGCAGCT
CAAGGCCCTGTGTGAGAAGCATGGGGACCGGGTGCCCCTGTCACTGCACCTCGGCCACCACCTGCACGGCGGCGGGGGCAGTCCCCCCGACACGCGGCTG
CACCTCCTGGCCTCCCTCTGGAAGCAGGTCCAGTTTGCTGCCCGCACCCAGGACTACGAACAGATGGTGGACTTGGTCACCACGGACGACATGCACCCAT
TCCTGGCTCCTGCAGGCCGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCCGGGGCCACCAGCAGCAGGGCGGCCACTACTCGCT
GCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTCT
GCCTACTCTGCCAGGGACATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGG
CCGTGCAGCTCAAGGCCCAGCCTCTGGACAAGCTGGGCTTCGTGGTGGACGTGGAGGCGGGCTCCCGCTGCTTCCGGCTGCTCTTCCCCAGCAACCGGGA
GACGCTGCCTGACCCCTGCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGGCAGGCCGGCCGGGCCTGCGGCTCCTGTGGCGG
CGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCCTGGCCGTGGAGACGGCCCTGTGGAAGC
AGCTGCTGGAGCTGGTGGAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCA
GCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTG
GTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTGCTTCTCAGGCCGTGTGTACCGGG
CCCCGAGGGACCGGTACCGCGACGTGGATGAGTACGCCTGCGTGTGGGAACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTC
CGTCACACTTCAGCACCTGAGTGTCTCCTGGGAGGCGTCACGGACGCCGCAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAG
AACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCG
GCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCC
CAGACGGGTGCACCTCTTCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGTGCTGAGGCCGGGCACCCTGTTCACCGTTGAGCTGCTGCCCAAG
CAGCTTCCTGATCTCCGCAAGGAGGAAGCCGTGCGTGGACTAGAGGAGGCGTCCCCGCTGGTCACCAGCATCGCACTGGGCCGGCCTGTCCCGCAGCCCC
TCTGCAGAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGCCCCCCCCGTGGGGAGAA
GCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGAAGGATGGAGCTGAAGCCCCTC
CGTGTGTACAGTGAGCAGGCTGAGGCCAGCGAGTTCCCAGTGCCGCGTGTGGGCAGCAGGAAGCTGCTCAGGAAGAGCCCCCGGGAGGGGAGGCCGAACC
AGAGCCTCAGGAGCATCACCCTGCACCACCGGATCCGGCAGGCCCCCAACCCTTACTCGTCGGAAATCAAGGCCTTTGACACCCGGCTGCAGAGAGGGGA
GCTCTTCTCCAGGGAGGACCTGGTCTGGTACAAGAAGGTCTTGTGGGAGGCTCGGAAGTTCGAGCTGGACCGGCATGAGGTCATCCTCTGCACCTGCTCC
TGTGCAGCCTCTGCCAGCCTCAAAATCCTGGACGTGAGGCAGATCCTTGTTGACGAGGCAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGC
AGTTCCCACAGGCCGAGAAGGTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTC
TCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATGCATGAGGGCATCTGTGCCTTCCCCTCTGTGGCGTTCTACAAGAGC
AAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCACG
AGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGCCCTTCGGCGAGAGGGCATCGCCGG
GGTGGCCGTGTCCTCCATCACCAAGAGCCAGGGGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGG
CCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAATGTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCG
GAGACCACCTCCTTCTGCGCTGCTGCCCCCTCTGGCGTAGCCTCCTGGACTTCTGCGAGGCTCAGCAGACCCTCGTGCCTGCCGGCCAGGTGCGCGTCTG
CAGGAGGCCAACTATGCCTTCCTGAAGAGCCCTCTCCACCTGCAAGGTGCCAGGACTGGGAGGGAAAGTCCAGGGCCCCCCCACCCTCCCCACCACCCTC
CGCCATCAGCCTGCCTGGGCCAGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCC
ACACTCTTGCTCCTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTAAGGAAGTTCTGCTGTCCCTG
GGAAGTCTCAGAACCAGGAAGGAAACCCTGTGGAGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATGGTGTCTGTGGAGTTCAGGTTT
ATTTTCTATTTAAATGAACTAAAAGCCAGCATCCTGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACCTG
AGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCA
GCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGACTCCAGGAGGCGCAGGCTGCAGTGAGCTCTGATGGTACCACTGCACTCCAGCCTGGGTGACAGAG
CGAGACCCTGTCTTAAAAAAAAAAACAAAACAAAACCAGCATCTGTTACTGGAACAGAGACCTCAGCCCAAGCTCAGGACAAGGAGGCCTCCCTGGGAGA
GGGGGCCTTTCTCCCACCATCACCGCCTGTGTCCTTCAGGGGCTGCTGGAGGGCAGCCCAAAGCCAGGGGCCCACCCCGCCCCACCCCACCCCACCCCAC
CCTCTGAAATGTGAAAAGCCTGCACTCTTCCTGTGGGCTGCGCAGTGGGCTCGGGGGTTGGGGGGTGCCGGGGCGATGCTTCCACCCTGGACTGAGTGTT
CGGGGCAGCCTGCTCGGCTGTATGTTTCTCGCACGCTCACCCGCTTCAGTGCGGCTCTGTCCCTGCTGCCGCCTCCAGTCCTGAGGGAGGGGCTTGCCCC
ACCTTCTACATTCCAATTTTTATATCTTTG


Protein Sequence     (SEQ ID NO:363):
MAVWEAEQLGGLQRGDLLTPPAPDGDGRTAPLGQPPGAQLYCPACLVTCHSQEAFENHCASSEHAQMVAFDQALPWEHRSPPPGLSKFELCPKPDLCEYG
DACTKAHSAQELQEWVRRTQAVELRGQAAWQDGLVPYQERLLAEYQRSSSEVLVLAETLDGVRVTCNQPLMYQAQERKTQYSWTFAVHSEEPLLHVALLK
QEPGADFSLVAPGLPPGRLYARGERFRVPSSTADFQVGVRVQAASFGTFEQWVVFDFGRRPVLLQKLGLQLGQGRRPGPCRNLALGHPEEMERWHTGNRH
VVPGVERTAEQTALMAKYKGPALALEFNRSSVASGPISPTNYRQRMHQFLYEEEAAQQQLVAKLTLRGQVFLKTALQTPALNMLFAPPGALYAEVPVPSS
LMPDTDQGFLLGRAVSTALVAPVPAPDNTVFEVRLERRASSEQALWLLLPARCCLALGLQPEARLVLEVQFQIDPMTFRLWHQAVDTLPEEQLVVPDLPT
CALPRPWSVPPLRRGNRKQELAVALIAGWGPGDGRRVPPLLIYGPFGTGKTYTLAMASLEVIRRPETKVLICTHTNSAADIYIREYFHSHVSGGHPEATP
LRVMYTDRPLSQTDPVTLQYCCLTDDRQAFRPPTRAELARHRVVVTTTSQARELRVPVGFFSHILIDEAAQMLECEALTPLAYASHGTRLVLAGDHMQVT
PRLFSVARARAAEHTLLHRLFLCYQQETHEVARQSRLVFHENYRCTDAIVSFISRHFYVAKGNPIHARGKVPPHPRHYPLMFCHVAGNPDRDMSMASWLN
LAEIAQVVEKVQEAYNTWPSCWGGREQRCICVVSHGAQFRVVVLSTVHTCQSLLSPGALAPEFFTDARVLNTVLTRAQSQLVVVGDAVALCSFGACGKLW
ESFIRECVERHSVCPEGLSMEQVEQGVAQRRRWPPRGTQAGAAGNWEAAPEPVGDLAEEQAAVVTAMVKAEPGDEALSPASRDITATTAQTEAAAAPAGD
AVKEDVVPGACAAGAAAAAGVESTEAEDAEADFWPWDGELNADDAILRELLDESQKVMVTVGEDGLLDTVARPESLQQARLYENLPPAALRKLLRAEPER
YRHCSFVPETFERASAIPLDDASSGPIQVRGRLDCGMAFAGDEVLVQLLSGDKAPEGRLRGRVLGVLKRKRHELAFVCRMDTWDPRIMVPINGSVTKIFV
AELKDPSQVPIYSLRKGRLQRVGLERLTAEARHSRLFWVQIVLWRQGFYYPLGIVREVLPEASTWEQGLRILGLEYSLRVPPSDQATITKVLQKYHTELG
RVAGRREDCRAFLTFTVDPQGACNLDDALSVRDLGPRCEVAVHITDVASFVPRDGVLDVEARRQGAAFYAPGREPVPMLPASLCQDVLSLLPGRDRLAIS
LFLTMEKASGQLKSLRFAPSVVQSDRQLSYEEAEEVIRQHPGAGRELPARLDSVDACVVAACYFSRLLRRHRLRSDCFYEQPDEDGTLGFRAAHIMVKEY
MIQFNRLVAEFLVGSECTRTVTPLRWQPAPRSQQLKALCEKHGDRVPLSLHLGHHLHGGGGSPPDTRLHLLASLWKQVQFAARTQDYEQMVDLVTTDDMH
PFLAPAGRDLRKALERSAFGRCARGHQQQGGHYSLQVDWYTWATSPIRRYLDVVLQRQILLALGHGGSAYSARDIDGLCQAFSLQHALAQSYQRRARSLH
LAVQLKAQPLDKLGFVVDVEAGSRCFRLLFPSNRETLPDPCPVPYGSLQLAEHPHALAGRPGLRLLWRRRVYSAQGSSPPLPLPGTVPDPHTLAVETALW
KQLLELVELQRWPEAAALIQEKGEASQRRELVQVQRSHCGHFLEVARELGSGDTLQVQLGTSLQHGFLVPSPQLWTVAPGFSLCLEHVERPGDCFSGRVY
RAPRDRYRDVDEYACVWEPFCALESATGAVAENDSVTLQHLSVSWEASRTPQGQLQGAFRLEAAFLEENCADINFSCCYLCIRLEGLPAPTASPRPGPSS
LGPGLNVDPGTYTWVAHGQTQDWDQERRADRQEAPRRVHLFVHHMGMEKVPEEVLRPGTLFTVELLPKQLPDLRKEEAVRGLEEASPLVTSIALGRPVPQ
PLCRGKTIVGLHIVFWFHKSNQEQVQPGGPPRGEKRLGGPCILYCGPSNKSVDVLAGLLLRRMELKPLRVYSEQAEASEFPVPRVGSRKLLRKSPREGRP
NQSLRSITLHHRIRQAPNPYSSEIKAFDTRLQRGELFSREDLVWYKKVLWEARKFELDRHEVILCTCSCAASASLKILDVRQILVDEAGMATEPETLIPL
VQFPQAEKVVLLGDHKQLRPVVKNERLQNLGLDRSLFERYHEDAHMLDTQYRMHEGICAFPSVAFYKSKLKTWQGLRRPPSVLGHAGKESCPVIFGHVQG
HERSLLVSTDEGNENSKANLEEVAEVALRREGIAGVAVSSITKSQGSEWRYVLVSTVRTCAKSDLDQRPTKSWLKKFLGFVVDPNQVNVAVTRAQEGLCL
IGDHLLLRCCPLWRSLLDFCEAQQTLVPAGQVRVCRRPTMPS*



SNP Information


Context              (SEQ ID NO:1758):
CGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGGGCAAGGTTCCGCCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCA
R
CCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGC
Celera SNP ID:                hCV1066077
SNP Position Transcript:      3259
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,22)  african american(G,2|A,28)  total(G,4|A,50)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 788,(N,AAC) (S,AGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 788,(N,AAC) (S,AGC)



Context              (SEQ ID NO:1759):
GCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGC
R
CCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTG
Celera SNP ID:                hCV25942472
SNP Position Transcript:      6477
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,9|A,27)  total(G,9|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1861,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1760):
GGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGGCC
Y
GGGCGGCCGAGCACACGCTGCTGCACCGCCTCTTCCTGTGCTACCAGCAGGAGACTCACGAGGTGGCGCGGCAGAGCCGCCTGGTCTTCCACGAGAACTA
Celera SNP ID:                hCV25932999
SNP Position Transcript:      3024
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,0|C,28)  total(T,1|C,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 710,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1761):
GCCACTCCTCTCCGTGTGATGTACACGGACCGGCCGCTGAGCCAGACGGACCCAGTCACGCTGCAGTACTGTTGCCTGACCGACGACCGCCAGGCTTTCC
R
CCCGCCCACACGGGCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATT
Celera SNP ID:                hCV25932140
SNP Position Transcript:      2788
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,1)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 631,(R,CGC) (H,CAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,33|A,1)  total(G,71|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 631,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1762):
CTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGC
Y
GGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAG
Celera SNP ID:                hCV2729196
SNP Position Transcript:      6859
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,29)  african american(T,8|C,22)  total(T,17|C,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1988,(P,CCG) (L,CTG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,790|C,2198) ; no_pop(T,2|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1988,(P,CCG) (L,CTG)



Context              (SEQ ID NO:1763):
GTGGACTTGGTCACCACGGACGACATGCACCCATTCCTGGCTCCTGCAGGCCGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCC
R
GGGCCACCAGCAGCAGGGCGGCCACTACTCGCTGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGG
Celera SNP ID:                hCV2729193
SNP Position Transcript:      5767
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2|G,2) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1624,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1764):
CAACAGTTTGTGGTGGTGAGGCCGCGGCCCCGGGCCGGCCAGCCTCCTGCCTACTGCAGGTTTGTGGGGCGTGGGCAGCCGTGCTGGCGTGGGGAGTCCC
Y
CTGCCAGTTTGCACACAGCGCCGTGGAGATGGCTGTGTGGGAGGCCGAGCAGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGAT
Celera SNP ID:                hCV27163913
SNP Position Transcript:      868
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1765):
GGGGCAGGCCGGGCGGCCGACGCCATCCTTACGGAGTTTGGCGGCCGCTTCGAGCTGCTTTGCTCCCTCTGCTTCAGGCGCTGTCCCCCATGCATCTGTC
R
CGTGGACCCCCAGGGGCAGTGCCCTGAGCACGGAGCCTGCCCCTCCCTCCTGGCCCACGTGAGCGCCGAGGGCCGCCGCAAGCAACAGTTTGTGGTGGTG
Celera SNP ID:                hCV29710994
SNP Position Transcript:      685
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1766):
CAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAGGTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGT
R
GTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATGCATG
Celera SNP ID:                hCV15841568
SNP Position Transcript:      7859
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,14|A,0)  african american(G,27|A,7)  total(G,41|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2321,(V,GTG) (V,GTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,26|A,8)  total(G,62|A,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2321,(V,GTG) (V,GTA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,10|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2321,(V,GTG) (V,GTA)



Context              (SEQ ID NO:1767):
TGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTC
Y
GCCTACTCTGCCAGGGACATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGG
Celera SNP ID:                hCV2332230
SNP Position Transcript:      5900
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,80|T,156)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1668,(S,TCT) (S,TCC)



Context              (SEQ ID NO:1768):
TCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGA
Y
GCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGG
Celera SNP ID:                hCV25997135
SNP Position Transcript:      5261
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,4)  african american(T,4|C,16)  total(T,4|C,20)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1455,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1769):
TCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCGCGAGCAGAGGTGCATCTGTGTCGTTTCCCACGGTGCCCAGTTCCGGGT
Y
GTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCTGA
Celera SNP ID:                hCV25932791
SNP Position Transcript:      3419
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,34)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 841,(V,GTC) (V,GTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,3|C,31)  total(T,3|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 841,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1770):
TCCACGAGAACTACCGCTGCACGGACGCCATTGTCAGCTTCATCTCGCGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGGGCAAGGTTCC
S
CCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCAACCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGC
Celera SNP ID:                hCV25996658
SNP Position Transcript:      3212
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,1)  african american(G,34|C,0)  total(G,57|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 772,(P,CCG) (P,CCC)



Context              (SEQ ID NO:1771):
TGCTTCCGGCTGCTCTTCCCCAGCAACCGGGAGACGCTGCCTGACCCCTGCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGG
Y
AGGCCGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACAC
Celera SNP ID:                hCV2729194
SNP Position Transcript:      6169
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1758,(A,GCA) (V,GTA)



Context              (SEQ ID NO:1772):
TGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTGCGTGTGCAGGC
Y
GCCTCGTTCGGCACCTTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCAGGGGCGTCGCC
Celera SNP ID:                hCV8893073
SNP Position Transcript:      1625
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|C,31)  african american(T,16|C,20)  total(T,21|C,51)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 243,(A,GCC) (A,GCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,6|C,32)  african american(T,17|C,21)  total(T,23|C,53)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 243,(A,GCC) (A,GCT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 243,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1773):
CTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTG
Y
GTGTGCAGGCCGCCTCGTTCGGCACCTTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCA
Celera SNP ID:                hCV25934298
SNP Position Transcript:      1614
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 240,(R,CGT) (C,TGT)



Context              (SEQ ID NO:1774):
AGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGG
K
TGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGCCGGCCGCCGAGAGGACTGCCGCGCCTTCTT
Celera SNP ID:                hCV2729190
SNP Position Transcript:      4734
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|G,8)  african american(T,4|G,20)  total(T,8|G,28)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1280,(V,GTG) (L,TTG)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,6|T,8) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1280,(V,GTG) (L,TTG)



Context              (SEQ ID NO:1775):
TGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCC
M
CGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCC
Celera SNP ID:                hCV29819189
SNP Position Transcript:      6878
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1994,(P,CCA) (P,CCC)



Context              (SEQ ID NO:1776):
GCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCA
Y
GAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGCCCTTCGGCGAGAGGGCATCGCCG
Celera SNP ID:                hCV25932642
SNP Position Transcript:      8099
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,33)  total(T,1|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2401,(H,CAC) (H,CAT)



Context              (SEQ ID NO:1777):
GCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAA
Y
GTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCGGAGACCACCTCCTTCTGCGCTGCTGCCCCCTCTGGCGTAGCCTCCTGGACTTCTGCGAGG
Celera SNP ID:                hCV2729199
SNP Position Transcript:      8360
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,9)  african american(T,16|C,12)  total(T,25|C,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2488,(N,AAT) (N,AAC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,342|C,2602) ; no_pop(T,2|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2488,(N,AAT) (N,AAC)



Context              (SEQ ID NO:1778):
CCGGCCAGCCTCCTGCCTACTGCAGGTTTGTGGGGCGTGGGCAGCCGTGCTGGCGTGGGGAGTCCCGCTGCCAGTTTGCACACAGCGCCGTGGAGATGGC
Y
GTGTGGGAGGCCGAGCAGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGGCGCACGGCCCCCCTTGGCCAGCCCC
Celera SNP ID:                hCV27537802
SNP Position Transcript:      902
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2,(A,GCT) (A,GCC)



Context              (SEQ ID NO:1779):
GCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACG
S
AGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCCCAGACGGGTGCACCTCTTCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGT
Celera SNP ID:                hCV25941791
SNP Position Transcript:      6957
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 2021,(Q,CAG) (E,GAG)



Context              (SEQ ID NO:1780):
GGCCGCGGCCCCGGGCCGGCCAGCCTCCTGCCTACTGCAGGTTTGTGGGGCGTGGGCAGCCGTGCTGGCGTGGGGAGTCCCGCTGCCAGTTTGCACACAG
Y
GCCGTGGAGATGGCTGTGTGGGAGGCCGAGCAGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGGCGCACGGCCC
Celera SNP ID:                hCV11377877
SNP Position Transcript:      887
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,2|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1781):
GAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACC
Y
TGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGT
Celera SNP ID:                hCV25942446
SNP Position Transcript:      6459
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,5|C,29)  total(T,5|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1855,(L,CTG) (L,TTG)



Context              (SEQ ID NO:1782):
TGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTG
Y
GTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTG
Celera SNP ID:                hCV25932847
SNP Position Transcript:      3617
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,13|C,21)  total(T,16|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 907,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1783):
TGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCA
R
GCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTG
Celera SNP ID:                hCV29493867
SNP Position Transcript:      3776
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 960,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:1784):
GTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGGCGCACGGCCCCCCTTGGCCAGCCCCCTGGGGCCCAGCTGTACTGCCC
S
GCCTGCTTGGTCACCTGCCACTCTCAGGAGGCCTTCGAGAACCACTGCGCATCCTCGGAGCACGCACAGATGGTGGCCTTCGACCAGGCCCTGCCCTGGG
Celera SNP ID:                hCV29370804
SNP Position Transcript:      1025
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 43,(P,CCG) (P,CCC)



Context              (SEQ ID NO:1785):
GGTCTGGACCTTCGAGCGTCAGCACAACCTCCAGCGCCTATGGCTGAAGGCGGAGGTGCAGGGCAGCGGGGCCCAGGGAGGGGCAGGCCGGGCGGCCGAC
R
CCATCCTTACGGAGTTTGGCGGCCGCTTCGAGCTGCTTTGCTCCCTCTGCTTCAGGCGCTGTCCCCCATGCATCTGTCGCGTGGACCCCCAGGGGCAGTG
Celera SNP ID:                hCV29747209
SNP Position Transcript:      606
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1786):
GGGACGGGGAGCTCAACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGACAC
Y
GTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACCGCC
Celera SNP ID:                hCV576767
SNP Position Transcript:      4103
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1069,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1787):
CGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCT
Y
GGGCCCCATCCAGGTCAGGGGCCGCCTGGACTGTGGGATGGCCTTCGCCGGGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGG
Celera SNP ID:                hCV25938768
SNP Position Transcript:      4267
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1124,(S,TCG) (L,TTG)



Context              (SEQ ID NO:1788):
AGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAGGCGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTA
Y
GCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGGCCCGGGCGGCCGAGCACACGCTGC
Celera SNP ID:                hCV1066076
SNP Position Transcript:      2945
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,25)  african american(T,3|C,27)  total(T,6|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 683,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 683,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1789):
TCCACTCTGAGGAGCCCCTGCTACACGTGGCCCTGCTGAAGCAGGAGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTA
Y
GCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTGCGTGTGCAGGCCGCCTCGTTCGGCACCTTTGAGCAATGGGTGG
Celera SNP ID:                hCV25942345
SNP Position Transcript:      1556
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,35)  african american(T,13|C,25)  total(T,16|C,60)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 220,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 220,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1790):
AACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTCCGTCACACTTCAGCACCTGAGTGTCTCCTGGGAGGCGTCACGGACGCC
R
CAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCG
Celera SNP ID:                hCV25931929
SNP Position Transcript:      6749
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,2)  african american(G,18|A,0)  total(G,52|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1951,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,2)  african american(G,34|A,0)  total(G,70|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1951,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1791):
TGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGC
R
TCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCG
Celera SNP ID:                hCV25992278
SNP Position Transcript:      5268
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,0)  african american(G,11|A,1)  total(G,13|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1458,(V,GTC) (I,ATC)



Context              (SEQ ID NO:1792):
GGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGA
Y
GTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCT
Celera SNP ID:                hCV25990792
SNP Position Transcript:      5054
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,0)  african american(T,2|C,28)  total(T,4|C,28)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1386,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1793):
GCAGCAGTGAGGTCCTTGTGCTGGCAGAGACCCTTGATGGAGTGCGTGTCACCTGCAACCAGCCCCTGATGTACCAGGCCCAGGAGAGGAAGACCCAGTA
Y
AGCTGGACGTTTGCCGTCCACTCTGAGGAGCCCCTGCTACACGTGGCCCTGCTGAAGCAGGAGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCC
Celera SNP ID:                hCV25937807
SNP Position Transcript:      1439
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,6)  african american(T,1|C,27)  total(T,1|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 181,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1794):
ACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGCCCTTCGGCGAGAGGGCATCGC
Y
GGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGGGGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGC
Celera SNP ID:                hCV2729198
SNP Position Transcript:      8198
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2434,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1795):
CAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCAGGTGCGAGGTGGCTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCA
R
GGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGAC
Celera SNP ID:                hCV2729191
SNP Position Transcript:      4954
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,4) ; no_pop(G,-|A,-) ; no_pop(G,612|A,9
2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1353,(R,AGG) (K,AAG)



Context              (SEQ ID NO:1796):
CGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTGTGCCCAGCTCCACTGCCGACTTCCAGGTGGGAGTGCGTGTGCAGGCCGCCTCGTTCGGCAC
Y
TTTGAGCAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCAGGGGCGTCGCCCAGGACCCTGCAGGA
Celera SNP ID:                hCV29548260
SNP Position Transcript:      1640
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 248,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1797):
CCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCC
Y
GGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAG
Celera SNP ID:                hCV25941721
SNP Position Transcript:      6884
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,12|C,8)  african american(T,11|C,11)  total(T,23|C,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1996,(P,CCT) (P,CCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1996,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1798):
GCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAGGCGGCCCAGATGCTGGAGTG
Y
GAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGG
Celera SNP ID:                hCV25932580
SNP Position Transcript:      2921
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,31)  african american(T,13|C,13)  total(T,14|C,44)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 675,(C,TGC) (C,TGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 675,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1799):
CAATGGGTGGTCTTCGACTTTGGCCGCCGGCCGGTGCTGCTACAAAAGCTGGGGCTGCAGCTGGGCCAGGGGCGTCGCCCAGGACCCTGCAGGAATCTGG
Y
GCTCGGCCACCCTGAGGAGATGGAGCGCTGGCACACTGGCAACCGCCACGTGGTGCCTGGCGTGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAG
Celera SNP ID:                hCV25933850
SNP Position Transcript:      1747
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,6)  african american(T,4|C,20)  total(T,4|C,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 284,(A,GCG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,12|C,24)  total(T,15|C,61)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 284,(A,GCG) (V,GTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 284,(A,GCG) (V,GTG)



Context              (SEQ ID NO:1800):
TGCACACAGCGCCGTGGAGATGGCTGTGTGGGAGGCCGAGCAGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGG
Y
GCACGGCCCCCCTTGGCCAGCCCCCTGGGGCCCAGCTGTACTGCCCGGCCTGCTTGGTCACCTGCCACTCTCAGGAGGCCTTCGAGAACCACTGCGCATC
Celera SNP ID:                hCV11377878
SNP Position Transcript:      978
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,2|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 28,(R,CGC) (C,TGC)



Context              (SEQ ID NO:1801):
GAGTGCGTGTCACCTGCAACCAGCCCCTGATGTACCAGGCCCAGGAGAGGAAGACCCAGTACAGCTGGACGTTTGCCGTCCACTCTGAGGAGCCCCTGCT
R
CACGTGGCCCTGCTGAAGCAGGAGCCAGGAGCCGACTTCTCTCTGGTGGCTCCCGGCCTCCCGCCAGGCCGGCTCTACGCACGGGGTGAGCGCTTCCGTG
Celera SNP ID:                hCV25942706
SNP Position Transcript:      1478
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,36)  african american(G,1|A,37)  total(G,1|A,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 194,(L,CTA) (L,CTG)



Context              (SEQ ID NO:1802):
GGCCCAGGGAGGGGCAGGCCGGGCGGCCGACGCCATCCTTACGGAGTTTGGCGGCCGCTTCGAGCTGCTTTGCTCCCTCTGCTTCAGGCGCTGTCCCCCA
Y
GCATCTGTCGCGTGGACCCCCAGGGGCAGTGCCCTGAGCACGGAGCCTGCCCCTCCCTCCTGGCCCACGTGAGCGCCGAGGGCCGCCGCAAGCAACAGTT
Celera SNP ID:                hCV2971201
SNP Position Transcript:      675
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1803):
GGGGAGGACGGGCTGCTGGACACCGTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGC
R
CGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAG
Celera SNP ID:                hCV576766
SNP Position Transcript:      4180
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,150|A,34) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1095,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1804):
GCATCCTCGGCCTGGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGC
S
GGCCGCCGAGAGGACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCA
Celera SNP ID:                hCV25997201
SNP Position Transcript:      4805
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|C,15)  african american(G,1|C,29)  total(G,4|C,44)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1303,(A,GCC) (A,GCG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1303,(A,GCC) (A,GCG)



Context              (SEQ ID NO:1805):
CCACACGGGCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCAT
Y
GATGAGGCGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCA
Celera SNP ID:                hCV25932540
SNP Position Transcript:      2894
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,33)  african american(T,11|C,21)  total(T,14|C,54)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 666,(I,ATC) (I,ATT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 666,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1806):
GTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTG
Y
CCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTG
Celera SNP ID:                hCV25932319
SNP Position Transcript:      8069
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|C,33)  african american(T,5|C,31)  total(T,10|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2391,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1807):
AGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGAAGGATGGAGCTGAAGCCCCTCCGTGTGTACAGTGAGCAGGCTGAGGCCAGCGAGTTCCCAGTGCC
R
CGTGTGGGCAGCAGGAAGCTGCTCAGGAAGAGCCCCCGGGAGGGGAGGCCGAACCAGAGCCTCAGGAGCATCACCCTGCACCACCGGATCCGGCAGGCCC
Celera SNP ID:                hCV25936367
SNP Position Transcript:      7445
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,17|A,1)  african american(G,31|A,1)  total(G,48|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2183,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,9)  african american(G,37|A,1)  total(G,66|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 2183,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1808):
CCTGTCCCGCAGCCCCTCTGCAGAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGCC
S
CCCCCGTGGGGAGAAGCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGAAGGATG
Celera SNP ID:                hCV25935216
SNP Position Transcript:      7285
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,32)  african american(G,1|C,31)  total(G,1|C,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 2130,(P,CCC) (R,CGC)



Context              (SEQ ID NO:1809):
GAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCAC
R
CCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGG
Celera SNP ID:                hCV25941718
SNP Position Transcript:      6880
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,27|A,1)  total(G,63|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1995,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1810):
TCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCGGCTCTTCTGGGTCCAAATTGTCCTGTGGCGGCAAGG
S
TTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGGGTGC
Celera SNP ID:                hCV25995804
SNP Position Transcript:      4637
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,28)  african american(G,1|C,35)  total(G,1|C,63)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1247,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1811):
GGTGCAGTTCCAGATTGACCCGATGACCTTCCGCCTCTGGCACCAGGCAGTGGACACACTGCCTGAGGAGCAGCTGGTGGTGCCCGACTTGCCCACCTGC
R
CCCTGCCCAGACCTTGGTCTGTCCCACCCTTGCGGCGTGGCAACCGCAAGCAGGAGCTGGCCGTGGCGCTCATCGCGGGCTGGGGCCCTGGGGATGGGAG
Celera SNP ID:                hCV25938847
SNP Position Transcript:      2400
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,1)  total(G,73|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 502,(A,GCC) (T,ACC)



Context              (SEQ ID NO:1812):
CGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCC
K
GGCCGTGGAGACGGCCCTGTGGAAGCAGCTGCTGGAGCTGGTGGAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCC
Celera SNP ID:                hCV2729195
SNP Position Transcript:      6274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|G,0)  african american(T,25|G,1)  total(T,27|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1793,(L,CTG) (R,CGG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,6|G,4) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1793,(L,CTG) (R,CGG)



Context              (SEQ ID NO:1813):
ACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCT
R
CGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGATTCAGTTTAATAGGC
Celera SNP ID:                hCV2729192
SNP Position Transcript:      5315
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,1)  african american(G,22|A,0)  total(G,25|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1473,(L,CTG) (L,CTA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,6|G,6) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 1473,(L,CTG) (L,CTA)



Context              (SEQ ID NO:1814):
GTGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAGTACAAGGGCCCTGCCCTGGCCCTGGAGTTCAACCGCAGCAGCGTGGCCTCGGGCCCCATCT
Y
GCCAACCAACTATCGGCAGAGGATGCACCAGTTTCTCTATGAGGAGGAGGCGGCTCAGCAGCAGCTGGTGGCCAAGCTGACCCTGCGGGGCCAGGTGTTC
Celera SNP ID:                hCV2729187
SNP Position Transcript:      1909
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|C,30)  african american(T,1|C,37)  total(T,11|C,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 338,(S,TCG) (L,TTG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 338,(S,TCG) (L,TTG)



Context              (SEQ ID NO:1815):
AGCTGGGTGGCCTCCAGCGGGGGGACCTGCTCACACCCCCTGCCCCTGATGGCGACGGGCGCACGGCCCCCCTTGGCCAGCCCCCTGGGGCCCAGCTGTA
Y
TGCCCGGCCTGCTTGGTCACCTGCCACTCTCAGGAGGCCTTCGAGAACCACTGCGCATCCTCGGAGCACGCACAGATGGTGGCCTTCGACCAGGCCCTGC
Celera SNP ID:                hCV27163915
SNP Position Transcript:      1019
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,1|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 41,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1816):
CGACGGGCGCACGGCCCCCCTTGGCCAGCCCCCTGGGGCCCAGCTGTACTGCCCGGCCTGCTTGGTCACCTGCCACTCTCAGGAGGCCTTCGAGAACCAC
K
GCGCATCCTCGGAGCACGCACAGATGGTGGCCTTCGACCAGGCCCTGCCCTGGGAGCACCGTTCCCCACCCCCGGGACTCTCCAAGTTCGAGCTCTGCCC
Celera SNP ID:                hCV27163914
SNP Position Transcript:      1071
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 59,(C,TGC) (G,GGC)



Context              (SEQ ID NO:1817):
ACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCG
Y
GAGCAGAGGTGCATCTGTGTCGTTTCCCACGGTGCCCAGTTCCGGGTCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCAC
Celera SNP ID:                hCV3250247
SNP Position Transcript:      3371
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,11|C,7)  african american(T,13|C,15)  total(T,24|C,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 825,(R,CGC) (R,CGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 825,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1818):
TTGCCCACCTGCGCCCTGCCCAGACCTTGGTCTGTCCCACCCTTGCGGCGTGGCAACCGCAAGCAGGAGCTGGCCGTGGCGCTCATCGCGGGCTGGGGCC
Y
TGGGGATGGGAGGCGTGTCCCCCCGCTACTCATCTATGGCCCCTTTGGCACCGGCAAGACCTACACGCTGGCCATGGCCTCCCTGGAGGTCATCCGGAGG
Celera SNP ID:                hCV32064028
SNP Position Transcript:      2488
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 531,(P,CCT) (L,CTT)



Context              (SEQ ID NO:1819):
TGGAGCGGACGGCCGAGCAGACGGCCCTGATGGCCAAGTACAAGGGCCCTGCCCTGGCCCTGGAGTTCAACCGCAGCAGCGTGGCCTCGGGCCCCATCTC
R
CCAACCAACTATCGGCAGAGGATGCACCAGTTTCTCTATGAGGAGGAGGCGGCTCAGCAGCAGCTGGTGGCCAAGCTGACCCTGCGGGGCCAGGTGTTCC
Celera SNP ID:                hCV8893072
SNP Position Transcript:      1910
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,34|A,4)  total(G,69|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 338,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:363, 338,(S,TCG) (S,TCA)



Context              (SEQ ID NO:1820):
GCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCC
Y
GGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAG
Celera SNP ID:                hCV25990841
SNP Position Transcript:      5077
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:363, 1394,(L,CTG) (R,CGG)



Context              (SEQ ID NO:1821):
TGCCTGGGCCAGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCCACACTCTTGCT
Y
CTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTAAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGA
Celera SNP ID:                hCV2332231
SNP Position Transcript:      8712
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1822):
AGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGC
R
TCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTAAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGG
Celera SNP ID:                hCV9729618
SNP Position Transcript:      8722
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,3|G,2) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1823):
GGAACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTG
Y
AAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGGAAACCCTGTGGAGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATG
Celera SNP ID:                hCV2729200
SNP Position Transcript:      8779
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,3|C,2) ; no_pop(T,-|C,-) ; no_pop(T,272|C,6
8) ; no_pop(T,88|C,30)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1824):
AGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATGGTGTCTGTGGAGTTCAGGTTTATTTTCTATTTAAATGAACTAAAAGCCAGCATC
Y
TGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATG
Celera SNP ID:                hCV29747210
SNP Position Transcript:      8934
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1825):
TTTATTTTCTATTTAAATGAACTAAAAGCCAGCATCCTGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCAC
Y
TGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCC
Celera SNP ID:                hCV30450068
SNP Position Transcript:      8998
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Context              (SEQ ID NO:1826):
GCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGACTCCAGGAGGCGCAGGCTGCAGTGAGCTCTGATGGTACCACTGCACTCCAGC
M
TGGGTGACAGAGCGAGACCCTGTCTTAAAAAAAAAAACAAAACAAAACCAGCATCTGTTACTGGAACAGAGACCTCAGCCCAAGCTCAGGACAAGGAGGC
Celera SNP ID:                hCV30558231
SNP Position Transcript:      9188
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:363, None



Gene Number:                  44
Celera Gene:                  hCG23418 - 104000117180308
Celera Transcript:            hCT2312438 - 104000117180331
Public Transcript Accession:  NM_033405
Celera Protein:               hCP1857049 - 197000069370183
Public Protein Accession:     NP_208384
Gene Symbol:                  PRIC285
Protein Name:                  peroxisomal proliferator-activated receptor A interacting complex 285
Celera Genomic Axis:          GA_x5YUV32VYHA(713279..741688)
Chromosome:                   20
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:103):
CTCACCTCTGACAGCCAGACAAGGGCTGTGCTCAGGGGCAGCTCGGCTGGGCACACAGTAGGTGCTTTAGCGGACAGCACTGAGGCCCCCAGCAAGAAGC
CCATGAGCTCCTCCCCCTCCCGCAGTGCCGCCGACATCTACATCCGGGAGTATTTCCACAGCCACGTCAGCGGCGGCCACCCCGAGGCCACTCCTCTCCG
TGTGATGTACACGGACCGGCCGCTGAGCCAGACGGACCCAGTCACGCTGCAGTACTGTTGCCTGACCGACGACCGCCAGGCTTTCCGCCCGCCCACACGG
GCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAGG
CGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCG
GCTGTTCAGTGTGGCCAGGGCCCGGGCGGCCGAGCACACGCTGCTGCACCGCCTCTTCCTGTGCTACCAGCAGGAGACTCACGAGGTGGCGCGGCAGAGC
CGCCTGGTCTTCCACGAGAACTACCGCTGCACGGACGCCATTGTCAGCTTCATCTCGCGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGG
GCAAGGTTCCGCCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCAACCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGC
TGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCGCGAGCAGAGGTGCATCTGTGTCGTTTCCCAC
GGTGCCCAGGTCAGTGCACTGAGGCAGGAGCTGAGGAGGCGGGACCTAGGCCAGGTGTCTGTCGGCAGTTTTGAGATCCTGCCAGGGCGGCAGTTCCGGG
TCGTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCT
GACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTGC
GTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTG
GGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCAGGCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGA
TGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTGCGGCAGCACCAGCAGGAGACGCAGTGAAGGAAGACGTGGTG
CCCGGGGCCTGTGCGGCAGGAGCGGCTGCTGCAGCGGGCGTGGAGTCCACGGAGGCTGAGGATGCAGAGGCTGACTTCTGGCCGTGGGACGGGGAGCTCA
ACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGACACCGTCGCCAGGCCCGA
GTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTG
CCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAGGTCAGGGGCCGCCTGGACTGTGGGATGGCCTTCGCCG
GGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGGCGGCTTCGGGGCCGCGTGCTGGGCGTGCTGAAGAGGAAGAGGCACGAGCT
GGCGTTTGTGTGCCGCATGGACACGTGGGACCCGCGCATCATGGTCCCCATCAATGGCTCCGTGACCAAGATCTTCGTGGCCGAGCTGAAGGACCCATCG
CAGGTCCCCATCTACAGCCTCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCGGCTCTTCTGGGTCCAAA
TTGTCCTGTGGCGGCAAGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCT
GGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGCCGGCCGCCGAGAG
GACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCAGGTGCGAGGTGG
CTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCAGGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGA
GCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAG
GCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACC
CGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCG
GTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGATTCAGTTTAATAGGCTC
GTGGCTGAGTTCCTGGTGGGCAGCGAGTGCACGCGGACGGTCACGCCTCTGCGGTGGCAGCCAGCACCCCGCAGCCAGCAGCTCAAGGCCCTGTGTGAGA
AGCATGGGGACCGGGTGCCCCTGTCACTGCACCTCGGCCACCACCTGCACGGCGGCGGGGGCAGTCCCCCCGACACGCGGCTGCACCTCCTGGCCTCCCT
CTGGAAGCAGGTCCAGTTTGCTGCCCGCACCCAGGACTACGAACAGATGGTGGACTTGGTCACCACGGACGACATGCACCCATTCCTGGCTCCTGCAGGC
CGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCCGGGGCCACCAGCAGCAGGGCGGCCACTACTCGCTGCAGGTGGACTGGTACA
CGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTCTGCCTACTCTGCCAGGGA
CATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGGCCGTGCAGCTCAAGGCC
CAGCCTCTGGACAAGCTGGGCTTCGTGGTGGACGTGGAGGCGGGCTCCCGCTGCTTCCGGCTGCTCTTCCCCAGCAACCGGGAGACGCTGCCTGACCCCT
GCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGGCAGGCCGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGC
GCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCCTGGCCGTGGAGACGGCCCTGTGGAAGCAGCTGCTGGAGCTGGTG
GAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCC
ATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCT
CTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTGCTTCTCAGGCCGTGTGTACCGGGCCCCGAGGGACCGGTAC
CGCGACGTGGATGAGTACGCCTGCGTGTGGGAACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTCCGTCACACTTCAGCACC
TGAGTGTCTCCTGGGAGGCGTCACGGACGCCGCAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAA
CTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTT
GACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCCCAGACGGGTGCACCTCT
TCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGTGCTGAGGCCGGGCACCCTGTTCACCGTTGAGCTGCTGCCCAAGCAGCTTCCTGATCTCCG
CAAGGAGGAAGCCGTGCGTGGACTAGAGGAGGCGTCCCCGCTGGTCACCAGCATCGCACTGGGCCGGCCTGTCCCGCAGCCCCTCTGCAGAGTGATCCCC
AGCAGGTTCCTGGAGCGGCAGACCTACAACATCCCCGGAGGCCGCCACAAGCTGAACCCCAGCCAGAACGTGGCGGTCAGGGAGGCTCTGGAGAAGCCTT
TCACGGTCATTCAGGGCCCACCAGGTACAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGG
AGGCCCCCCCCGTGGGGAGAAGCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGA
AGGATGGAGCTGAAGCCCCTCCGTGTGTACAGTGAGCAGGCTGAGGCCAGCGAGTTCCCAGTGCCGCGTGTGGGCAGCAGGAAGCTGCTCAGGAAGAGCC
CCCGGGAGGGGAGGCCGAACCAGAGCCTCAGGAGCATCACCCTGCACCACCGGATCCGGCAGGCCCCCAACCCTTACTCGTCGGAAATCAAGGCCTTTGA
CACCCGGCTGCAGAGAGGGGAGCTCTTCTCCAGGGAGGACCTGGTCTGGTACAAGAAGGTCTTGTGGGAGGCTCGGAAGTTCGAGCTGGACCGGCATGAG
GTCATCCTCTGCACCTGCTCCTGTGCAGCCTCTGCCAGCCTCAAAATCCTGGACGTGAGGCAGATCCTTGTTGACGAGGCAGGCATGGCCACGGAACCTG
AAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAGGTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGTGGTCAAGAATGAGCGGCTGCA
AAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATGCATGAGGGCATCTGTGCCTTCCCC
TCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCT
TTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGTCCG
TATCACCAAGCAGCTGACCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTT
CGGCGAGAGGGCATCGCCGGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGGGGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCA
AGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAATGTGGCTGTCACGCGGGCCCA
GGAGGGGCTCTGCCTGATCGGAGACCACCTCCTTCTGCGCTGCTGCCCCCTCTGGCGTAGCCTCCTGGACTTCTGCGAGGCTCAGCAGACCCTCGTGCCT
GCCGGCCAGGTGCGCGTCTGCAGGAGGCCAACTATGCCTTCCTGAAGAGCCCTCTCCACCTGCAAGGTGCCAGGACTGGGAGGGAAAGTCCAGGGCCCCC
CCACCCTCCCCACCACCCTCCGCCATCAGCCTGCCTGGGCCAGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGG
AACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTA
AGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGGAAACCCTGTGGAGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATGG
TGTCTGTGGAGTTCAGGTTTATTTTCTATTTAAATGAACTAAAAGCCAGCATCCTGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGC
CGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCTGGGCGTGGT
GGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGACTCCAGGAGGCGCAGGCTGCAGTGAGCTCTGATGGTACCACTGCA
CTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTTAAAAAAAAAAACAAAACAAAACCAGCATCTGTTACTGGAACAGAGACCTCAGCCCAAGCTCAGGAC
AAGGAGGCCTCCCTGGGAGAGGGGGCCTTTCTCCCACCATCACCGCCTGTGTCCTTCAGGGGCTGCTGGAGGGCAGCCCAAAGCCAGGGGCCCACCCCGC
CCCACCCCACCCCACCCCACCCTCTGAAATGTGAAAAGCCTGCACTCTTCCTGTGGGCTGCGCAGTGGGCTCGGGGGTTGGGGGGTGCCGGGGCGATGCT
TCCACCCTGGACTGAGTGTTCGGGGCAGCCTGCTCGGCTGTATGTTTCTCGCACGCTCACCCGCTTCAGTGCGGCTCTGTCCCTGCTGCCGCCTCCAGTC
CTGAGGGAGGGGCTTGCCCCACCTTCTACATTCCAATTTTTATATCTTTG


Protein Sequence     (SEQ ID NO:364):
MSSSPSRSAADIYIREYFHSHVSGGHPEATPLRVMYTDRPLSQTDPVTLQYCCLTDDRQAFRPPTRAELARHRVVVTTTSQARELRVPVGFFSHILIDEA
AQMLECEALTPLAYASHGTRLVLAGDHMQVTPRLFSVARARAAEHTLLHRLFLCYQQETHEVARQSRLVFHENYRCTDAIVSFISRHFYVAKGNPIHARG
KVPPHPRHYPLMFCHVAGNPDRDMSMASWLNLAEIAQVVEKVQEAYNTWPSCWGGREQRCICVVSHGAQVSALRQELRRRDLGQVSVGSFEILPGRQFRV
VVLSTVHTCQSLLSPGALAPEFFTDARVLNTVLTRAQSQLVVVGDAVALCSFGACGKLWESFIRECVERHSVCPEGLSMEQVEQGVAQRRRWPPRGTQAG
AAGNWEAAPEPVGDLAEEQAAVVTAMVKAEPGDEALSPASRDITATTAQTEAAAAPAGDAVKEDVVPGACAAGAAAAAGVESTEAEDAEADFWPWDGELN
ADDAILRELLDESQKVMVTVGEDGLLDTVARPESLQQARLYENLPPAALRKLLRAEPERYRHCSFVPETFERASAIPLDDASSGPIQVRGRLDCGMAFAG
DEVLVQLLSGDKAPEGRLRGRVLGVLKRKRHELAFVCRMDTWDPRIMVPINGSVTKIFVAELKDPSQVPIYSLRKGRLQRVGLERLTAEARHSRLFWVQI
VLWRQGFYYPLGIVREVLPEASTWEQGLRILGLEYSLRVPPSDQATITKVLQKYHTELGRVAGRREDCRAFLTFTVDPQGACNLDDALSVRDLGPRCEVA
VHITDVASFVPRDGVLDVEARRQGAAFYAPGREPVPMLPASLCQDVLSLLPGRDRLAISLFLTMEKASGQLKSLRFAPSVVQSDRQLSYEEAEEVIRQHP
GAGRELPARLDSVDACVVAACYFSRLLRRHRLRSDCFYEQPDEDGTLGFRAAHIMVKEYMIQFNRLVAEFLVGSECTRTVTPLRWQPAPRSQQLKALCEK
HGDRVPLSLHLGHHLHGGGGSPPDTRLHLLASLWKQVQFAARTQDYEQMVDLVTTDDMHPFLAPAGRDLRKALERSAFGRCARGHQQQGGHYSLQVDWYT
WATSPIRRYLDVVLQRQILLALGHGGSAYSARDIDGLCQAFSLQHALAQSYQRRARSLHLAVQLKAQPLDKLGFVVDVEAGSRCFRLLFPSNRETLPDPC
PVPYGSLQLAEHPHALAGRPGLRLLWRRRVYSAQGSSPPLPLPGTVPDPHTLAVETALWKQLLELVELQRWPEAAALIQEKGEASQRRELVQVQRSHCGH
FLEVARELGSGDTLQVQLGTSLQHGFLVPSPQLWTVAPGFSLCLEHVERPGDCFSGRVYRAPRDRYRDVDEYACVWEPFCALESATGAVAENDSVTLQHL
SVSWEASRTPQGQLQGAFRLEAAFLEENCADINFSCCYLCIRLEGLPAPTASPRPGPSSLGPGLNVDPGTYTWVAHGQTQDWDQERRADRQEAPRRVHLF
VHHMGMEKVPEEVLRPGTLFTVELLPKQLPDLRKEEAVRGLEEASPLVTSIALGRPVPQPLCRVIPSRFLERQTYNIPGGRHKLNPSQNVAVREALEKPF
TVIQGPPGTGKTIVGLHIVFWFHKSNQEQVQPGGPPRGEKRLGGPCILYCGPSNKSVDVLAGLLLRRMELKPLRVYSEQAEASEFPVPRVGSRKLLRKSP
REGRPNQSLRSITLHHRIRQAPNPYSSEIKAFDTRLQRGELFSREDLVWYKKVLWEARKFELDRHEVILCTCSCAASASLKILDVRQILVDEAGMATEPE
TLIPLVQFPQAEKVVLLGDHKQLRPVVKNERLQNLGLDRSLFERYHEDAHMLDTQYRMHEGICAFPSVAFYKSKLKTWQGLRRPPSVLGHAGKESCPVIF
GHVQGHERSLLVSTDEGNENSKANLEEVAEVVRITKQLTLGRTVEPQDIAVLTPYNAQASEISKALRREGIAGVAVSSITKSQGSEWRYVLVSTVRTCAK
SDLDQRPTKSWLKKFLGFVVDPNQVNVAVTRAQEGLCLIGDHLLLRCCPLWRSLLDFCEAQQTLVPAGQVRVCRRPTMPS*



SNP Information


Context              (SEQ ID NO:1827):
CGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGGGCAAGGTTCCGCCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCA
R
CCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGC
Celera SNP ID:                hCV1066077
SNP Position Transcript:      758
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,22)  african american(G,2|A,28)  total(G,4|A,50)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 219,(N,AAC) (S,AGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 219,(N,AAC) (S,AGC)



Context              (SEQ ID NO:1828):
GCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACCCTGCAGGTGCAGCTCGGC
R
CCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGTGGAGCGGCCCGGAGACTG
Celera SNP ID:                hCV25942472
SNP Position Transcript:      4060
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,9|A,27)  total(G,9|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1320,(T,ACC) (A,GCC)



Context              (SEQ ID NO:1829):
GGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGGCC
Y
GGGCGGCCGAGCACACGCTGCTGCACCGCCTCTTCCTGTGCTACCAGCAGGAGACTCACGAGGTGGCGCGGCAGAGCCGCCTGGTCTTCCACGAGAACTA
Celera SNP ID:                hCV25932999
SNP Position Transcript:      523
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,37)  african american(T,0|C,28)  total(T,1|C,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 141,(R,CGG) (W,TGG)



Context              (SEQ ID NO:1830):
GCCACTCCTCTCCGTGTGATGTACACGGACCGGCCGCTGAGCCAGACGGACCCAGTCACGCTGCAGTACTGTTGCCTGACCGACGACCGCCAGGCTTTCC
R
CCCGCCCACACGGGCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATT
Celera SNP ID:                hCV25932140
SNP Position Transcript:      287
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,27|A,1)  total(G,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 62,(R,CGC) (H,CAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,33|A,1)  total(G,71|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 62,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1831):
AGGTTCCTGGAGCGGCAGACCTACAACATCCCCGGAGGCCGCCACAAGCTGAACCCCAGCCAGAACGTGGCGGTCAGGGAGGCTCTGGAGAAGCCTTTCA
Y
GGTCATTCAGGGCCCACCAGGTACAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGC
Celera SNP ID:                hCV27487035
SNP Position Transcript:      4904
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1601,(T,ACG) (M,ATG)



Context              (SEQ ID NO:1832):
CTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGC
Y
GGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAG
Celera SNP ID:                hCV2729196
SNP Position Transcript:      4442
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,29)  african american(T,8|C,22)  total(T,17|C,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1447,(P,CCG) (L,CTG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,790|C,2198) ; no_pop(T,2|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1447,(P,CCG) (L,CTG)



Context              (SEQ ID NO:1833):
GTGGACTTGGTCACCACGGACGACATGCACCCATTCCTGGCTCCTGCAGGCCGCGACCTCCGCAAGGCCCTGGAGCGCTCGGCGTTCGGCCGCTGCGCCC
R
GGGCCACCAGCAGCAGGGCGGCCACTACTCGCTGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGG
Celera SNP ID:                hCV2729193
SNP Position Transcript:      3350
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2|G,2) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1083,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:1834):
CAGGCATGGCCACGGAACCTGAAACCCTCATCCCCCTGGTGCAGTTCCCACAGGCCGAGAAGGTGGTTCTTCTCGGAGACCACAAGCAGCTGCGGCCTGT
R
GTCAAGAATGAGCGGCTGCAAAACCTGGGTCTGGACCGGTCTCTGTTCGAGCGGTACCACGAGGACGCACATATGCTGGACACTCAGTACCGCATGCATG
Celera SNP ID:                hCV15841568
SNP Position Transcript:      5580
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,14|A,0)  african american(G,27|A,7)  total(G,41|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1826,(V,GTG) (V,GTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,26|A,8)  total(G,62|A,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1826,(V,GTG) (V,GTA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,10|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1826,(V,GTG) (V,GTA)



Context              (SEQ ID NO:1835):
TGCAGGTGGACTGGTACACGTGGGCCACCTCGCCCATCCGCAGGTACCTGGACGTGGTGTTGCAGCGGCAGATCCTGCTGGCGCTGGGCCATGGGGGCTC
Y
GCCTACTCTGCCAGGGACATCGATGGGCTCTGCCAGGCCTTCAGCCTCCAGCACGCACTTGCCCAGAGCTATCAGCGGCGGGCGCGCAGCCTGCACCTGG
Celera SNP ID:                hCV2332230
SNP Position Transcript:      3483
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,80|T,156)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1127,(S,TCT) (S,TCC)



Context              (SEQ ID NO:1836):
TCCAGTCTGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGA
Y
GCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGG
Celera SNP ID:                hCV25997135
SNP Position Transcript:      2844
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,4)  african american(T,4|C,16)  total(T,4|C,20)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 914,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1837):
GTGCCCAGGTCAGTGCACTGAGGCAGGAGCTGAGGAGGCGGGACCTAGGCCAGGTGTCTGTCGGCAGTTTTGAGATCCTGCCAGGGCGGCAGTTCCGGGT
Y
GTGGTGCTCAGCACTGTGCACACCTGCCAGAGCCTGCTCAGCCCTGGGGCACTGGCCCCTGAGTTCTTCACCGACGCCCGCGTGCTCAACACCGTCCTGA
Celera SNP ID:                hCV25932791
SNP Position Transcript:      1002
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,34)  total(T,2|C,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 300,(V,GTC) (V,GTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,3|C,31)  total(T,3|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 300,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1838):
TCCACGAGAACTACCGCTGCACGGACGCCATTGTCAGCTTCATCTCGCGGCACTTCTACGTGGCCAAGGGCAACCCCATCCACGCCAGGGGCAAGGTTCC
S
CCCCACCCCCGGCACTACCCGCTCATGTTCTGCCACGTGGCGGGCAACCCAGACCGGGACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGC
Celera SNP ID:                hCV25996658
SNP Position Transcript:      711
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,1)  african american(G,34|C,0)  total(G,57|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 203,(P,CCG) (P,CCC)



Context              (SEQ ID NO:1839):
TGCTTCCGGCTGCTCTTCCCCAGCAACCGGGAGACGCTGCCTGACCCCTGCCCCGTCCCCTACGGCTCCCTGCAGCTGGCCGAGCACCCCCACGCCCTGG
Y
AGGCCGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACAC
Celera SNP ID:                hCV2729194
SNP Position Transcript:      3752
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1217,(A,GCA) (V,GTA)



Context              (SEQ ID NO:1840):
AGGCTTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGG
K
TGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGCCGGCCGCCGAGAGGACTGCCGCGCCTTCTT
Celera SNP ID:                hCV2729190
SNP Position Transcript:      2317
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|G,8)  african american(T,4|G,20)  total(T,8|G,28)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 739,(V,GTG) (L,TTG)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,6|T,8) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 739,(V,GTG) (L,TTG)



Context              (SEQ ID NO:1841):
TGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCC
M
CGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCC
Celera SNP ID:                hCV29819189
SNP Position Transcript:      4461
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1453,(P,CCA) (P,CCC)



Context              (SEQ ID NO:1842):
GCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTGCCCTGTCATCTTTGGCCACGTGCAGGGCCA
Y
GAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGTCCGTATCACCAAGCAGCTGACCC
Celera SNP ID:                hCV25932642
SNP Position Transcript:      5820
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,33)  total(T,1|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1906,(H,CAC) (H,CAT)



Context              (SEQ ID NO:1843):
GCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGCGGCCCACCAAGAGCTGGCTCAAGAAGTTTCTGGGCTTCGTTGTGGACCCCAACCAAGTGAA
Y
GTGGCTGTCACGCGGGCCCAGGAGGGGCTCTGCCTGATCGGAGACCACCTCCTTCTGCGCTGCTGCCCCCTCTGGCGTAGCCTCCTGGACTTCTGCGAGG
Celera SNP ID:                hCV2729199
SNP Position Transcript:      6180
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,9)  african american(T,16|C,12)  total(T,25|C,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 2026,(N,AAT) (N,AAC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,342|C,2602) ; no_pop(T,2|C,2) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 2026,(N,AAT) (N,AAC)



Context              (SEQ ID NO:1844):
CTCAC
Y
TCTGACAGCCAGACAAGGGCTGTGCTCAGGGGCAGCTCGGCTGGGCACACAGTAGGTGCTTTAGCGGACAGCACTGAGGCCCCCAGCAAGAAGCCCATGA
Celera SNP ID:                hCV3250246
SNP Position Transcript:      6
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-) ; no_pop(C,780|T,5
96)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1845):
GCCGGCTCCCACGGCCAGCCCACGCCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACG
S
AGGACTGGGACCAGGAGCGCCGGGCAGACCGGCAGGAGGCTCCCAGACGGGTGCACCTCTTCGTCCACCACATGGGCATGGAGAAGGTTCCGGAAGAGGT
Celera SNP ID:                hCV25941791
SNP Position Transcript:      4540
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1480,(Q,CAG) (E,GAG)



Context              (SEQ ID NO:1846):
GAAGGGCGAGGCGTCCCAGCGGCGGGAGCTGGTGCAGGTGCAGCGGAGCCACTGTGGCCATTTCCTGGAGGTGGCCCGGGAGCTGGGCAGTGGGGACACC
Y
TGCAGGTGCAGCTCGGCACCAGCCTGCAGCACGGCTTCCTGGTACCGAGCCCTCAGCTCTGGACGGTGGCACCGGGCTTCAGCCTCTGCCTGGAGCACGT
Celera SNP ID:                hCV25942446
SNP Position Transcript:      4042
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,5|C,29)  total(T,5|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1314,(L,CTG) (L,TTG)



Context              (SEQ ID NO:1847):
TGACCCGCGCCCAGTCCCAGCTGGTGGTAGTGGGGGACGCCGTGGCCCTCTGCTCCTTCGGGGCCTGCGGCAAGCTCTGGGAGAGCTTCATCCGTGAGTG
Y
GTGGAGCGGCACAGTGTCTGCCCCGAGGGCCTGTCCATGGAGCAGGTCGAGCAGGGTGTGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTG
Celera SNP ID:                hCV25932847
SNP Position Transcript:      1200
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,13|C,21)  total(T,16|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 366,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1848):
TGGCGCAGAGACGGCGCTGGCCTCCCCGAGGCACACAGGCTGGGGCAGCGGGGAACTGGGAGGCTGCCCCAGAGCCAGTAGGGGACCTGGCCGAGGAGCA
R
GCGGCTGTGGTGACGGCCATGGTGAAGGCAGAGCCGGGAGATGAGGCTCTGAGCCCAGCATCCCGTGACATCACGGCAACCACAGCGCAGACGGAGGCTG
Celera SNP ID:                hCV29493867
SNP Position Transcript:      1359
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 419,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:1849):
GGGACGGGGAGCTCAACGCTGACGACGCCATCCTACGGGAGCTTCTGGACGAGAGCCAGAAGGTGATGGTGACCGTCGGGGAGGACGGGCTGCTGGACAC
Y
GTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACCGCC
Celera SNP ID:                hCV576767
SNP Position Transcript:      1686
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 528,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1850):
CGGAAGCTGCTGCGCGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCT
Y
GGGCCCCATCCAGGTCAGGGGCCGCCTGGACTGTGGGATGGCCTTCGCCGGGGATGAGGTGCTGGTGCAGCTCCTTTCGGGAGACAAGGCGCCCGAGGGG
Celera SNP ID:                hCV25938768
SNP Position Transcript:      1850
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 583,(S,TCG) (L,TTG)



Context              (SEQ ID NO:1851):
AGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAGGCGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTA
Y
GCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGGCCCGGGCGGCCGAGCACACGCTGC
Celera SNP ID:                hCV1066076
SNP Position Transcript:      444
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,25)  african american(T,3|C,27)  total(T,6|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 114,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 114,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:1852):
AACCATTCTGCGCCCTGGAGTCGGCCACCGGCGCGGTTGCCGAGAATGACTCCGTCACACTTCAGCACCTGAGTGTCTCCTGGGAGGCGTCACGGACGCC
R
CAGGGGCAGCTGCAGGGCGCCTTCCGCCTGGAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCG
Celera SNP ID:                hCV25931929
SNP Position Transcript:      4332
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,2)  african american(G,18|A,0)  total(G,52|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1410,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,2)  african american(G,34|A,0)  total(G,70|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1410,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1853):
TGACCGCCAGCTGTCCTACGAGGAGGCGGAGGAGGTGATCAGGCAGCACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGC
R
TCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCTGCGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCG
Celera SNP ID:                hCV25992278
SNP Position Transcript:      2851
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,0)  african american(G,11|A,1)  total(G,13|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 917,(V,GTC) (I,ATC)



Context              (SEQ ID NO:1854):
GGGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGA
Y
GTCCTCAGCCTCCTGCCTGGCCGGGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCT
Celera SNP ID:                hCV25990792
SNP Position Transcript:      2637
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,0)  african american(T,2|C,28)  total(T,4|C,28)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 845,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1855):
CCCTGGGGAGGACCGTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGC
Y
GGGGTGGCCGTGTCCTCCATCACCAAGAGCCAGGGGAGCGAGTGGCGCTATGTGCTGGTGAGCACCGTCCGCACCTGTGCCAAGAGCGACCTGGACCAGC
Celera SNP ID:                hCV2729198
SNP Position Transcript:      6018
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,2) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1972,(A,GCC) (A,GCT)



Context              (SEQ ID NO:1856):
CAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCAGGTGCGAGGTGGCTGTGCACATCACTGATGTGGCCAGCTTCGTGCCCA
R
GGACGGGGTGCTGGACGTGGAGGCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGAC
Celera SNP ID:                hCV2729191
SNP Position Transcript:      2537
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,4) ; no_pop(G,-|A,-) ; no_pop(G,612|A,9
2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 812,(R,AGG) (K,AAG)



Context              (SEQ ID NO:1857):
CCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCACGCCC
Y
GGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGGGCAG
Celera SNP ID:                hCV25941721
SNP Position Transcript:      4467
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,12|C,8)  african american(T,11|C,11)  total(T,23|C,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1455,(P,CCT) (P,CCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1455,(P,CCT) (P,CCC)



Context              (SEQ ID NO:1858):
GCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCATCGATGAGGCGGCCCAGATGCTGGAGTG
Y
GAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCACACCCCGGCTGTTCAGTGTGGCCAGGG
Celera SNP ID:                hCV25932580
SNP Position Transcript:      420
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,31)  african american(T,13|C,13)  total(T,14|C,44)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 106,(C,TGC) (C,TGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 106,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1859):
GGGGAGGACGGGCTGCTGGACACCGTCGCCAGGCCCGAGTCCCTGCAGCAGGCCCGGCTGTACGAGAACCTGCCCCCGGCTGCGCTACGGAAGCTGCTGC
R
CGCGGAGCCCGAGCGGTACCGCCACTGCTCTTTCGTGCCAGAGACCTTCGAGCGGGCGTCAGCCATCCCGCTGGACGATGCCTCCTCGGGCCCCATCCAG
Celera SNP ID:                hCV576766
SNP Position Transcript:      1763
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,150|A,34) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 554,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1860):
GCATCCTCGGCCTGGAGTACAGCTTGAGGGTGCCCCCGTCGGACCAGGCCACCATCACCAAGGTGCTGCAGAAATACCACACGGAGCTTGGCCGGGTTGC
S
GGCCGCCGAGAGGACTGCCGCGCCTTCTTGACCTTCACTGTGGACCCCCAGGGCGCCTGCAACCTCGATGATGCCCTCAGTGTCCGAGACCTGGGTCCCA
Celera SNP ID:                hCV25997201
SNP Position Transcript:      2388
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|C,15)  african american(G,1|C,29)  total(G,4|C,44)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 762,(A,GCC) (A,GCG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 762,(A,GCC) (A,GCG)



Context              (SEQ ID NO:1861):
CCACACGGGCAGAGCTGGCGCGGCACCGCGTGGTGGTCACCACCACCTCCCAGGCCCGTGAGCTCAGGGTGCCGGTCGGCTTCTTCTCCCACATTCTCAT
Y
GATGAGGCGGCCCAGATGCTGGAGTGCGAGGCCCTCACCCCGCTGGCCTACGCCTCGCACGGCACCCGCCTCGTGCTGGCGGGCGACCACATGCAGGTCA
Celera SNP ID:                hCV25932540
SNP Position Transcript:      393
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,33)  african american(T,11|C,21)  total(T,14|C,54)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 97,(I,ATC) (I,ATT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 97,(I,ATC) (I,ATT)



Context              (SEQ ID NO:1862):
GTGCCTTCCCCTCTGTGGCGTTCTACAAGAGCAAGCTGAAGACGTGGCAGGGCCTGAGGAGGCCGCCCAGTGTCCTGGGCCACGCTGGCAAGGAGAGCTG
Y
CCTGTCATCTTTGGCCACGTGCAGGGCCACGAGCGGAGCCTGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTG
Celera SNP ID:                hCV25932319
SNP Position Transcript:      5790
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,5|C,33)  african american(T,5|C,31)  total(T,10|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1896,(C,TGC) (C,TGT)



Context              (SEQ ID NO:1863):
AGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGAAGGATGGAGCTGAAGCCCCTCCGTGTGTACAGTGAGCAGGCTGAGGCCAGCGAGTTCCCAGTGCC
R
CGTGTGGGCAGCAGGAAGCTGCTCAGGAAGAGCCCCCGGGAGGGGAGGCCGAACCAGAGCCTCAGGAGCATCACCCTGCACCACCGGATCCGGCAGGCCC
Celera SNP ID:                hCV25936367
SNP Position Transcript:      5166
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,17|A,1)  african american(G,31|A,1)  total(G,48|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1688,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,9)  african american(G,37|A,1)  total(G,66|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1688,(P,CCG) (P,CCA)



Context              (SEQ ID NO:1864):
GTCATTCAGGGCCCACCAGGTACAGGGAAGACGATCGTGGGCCTCCACATCGTATTCTGGTTTCATAAATCAAACCAGGAGCAGGTGCAGCCCGGAGGCC
S
CCCCCGTGGGGAGAAGCGGCTGGGGGGTCCCTGCATCTTGTACTGCGGCCCCTCCAACAAGTCGGTGGATGTCCTGGCAGGACTGCTCCTGAGAAGGATG
Celera SNP ID:                hCV25935216
SNP Position Transcript:      5006
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,32)  african american(G,1|C,31)  total(G,1|C,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1635,(P,CCC) (R,CGC)



Context              (SEQ ID NO:1865):
GAGGCCGCCTTCCTCGAGGAGAACTGTGCCGACATCAACTTCAGCTGCTGCTACCTCTGCATCCGGCTCGAGGGGCTGCCGGCTCCCACGGCCAGCCCAC
R
CCCTGGGCCCAGCAGCCTCGGCCCTGGCCTGAATGTTGACCCCGGCACGTATACCTGGGTGGCCCACGGGCAGACGCAGGACTGGGACCAGGAGCGCCGG
Celera SNP ID:                hCV25941718
SNP Position Transcript:      4463
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,27|A,1)  total(G,63|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1454,(R,CGC) (H,CAC)



Context              (SEQ ID NO:1866):
TCCGGAAGGGCCGGCTGCAGCGTGTGGGGCTTGAGAGGCTCACCGCCGAGGCCCGGCACAGCCGGCTCTTCTGGGTCCAAATTGTCCTGTGGCGGCAAGG
S
TTCTACTACCCGCTGGGCATCGTCCGGGAGGTGCTGCCTGAGGCCAGCACCTGGGAGCAGGGCCTCCGCATCCTCGGCCTGGAGTACAGCTTGAGGGTGC
Celera SNP ID:                hCV25995804
SNP Position Transcript:      2220
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,28)  african american(G,1|C,35)  total(G,1|C,63)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 706,(G,GGC) (G,GGG)



Context              (SEQ ID NO:1867):
CGGCCGGGCCTGCGGCTCCTGTGGCGGCGCCGTGTCTACTCAGCGCAGGGATCCAGCCCGCCCCTGCCACTGCCTGGCACTGTGCCGGACCCACACACCC
K
GGCCGTGGAGACGGCCCTGTGGAAGCAGCTGCTGGAGCTGGTGGAGCTGCAGCGCTGGCCGGAGGCGGCTGCTCTCATCCAGGAGAAGGGCGAGGCGTCC
Celera SNP ID:                hCV2729195
SNP Position Transcript:      3857
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|G,0)  african american(T,25|G,1)  total(T,27|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1252,(L,CTG) (R,CGG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,6|G,4) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 1252,(L,CTG) (R,CGG)



Context              (SEQ ID NO:1868):
ACCCGGGTGCCGGCCGTGAGCTGCCGGCCCGCCTGGACTCCGTGGACGCCTGCGTCGTGGCCGCGTGCTACTTCTCTCGGCTGCTGCGCCGGCACCGCCT
R
CGGTCCGACTGCTTCTATGAGCAGCCGGACGAGGACGGCACCCTGGGCTTCCGCGCGGCCCACATCATGGTGAAGGAGTACATGATTCAGTTTAATAGGC
Celera SNP ID:                hCV2729192
SNP Position Transcript:      2898
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,1)  african american(G,22|A,0)  total(G,25|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 932,(L,CTG) (L,CTA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,6|G,6) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 932,(L,CTG) (L,CTA)



Context              (SEQ ID NO:1869):
TGCTGGTGTCCACGGACGAAGGGAATGAGAACTCCAAGGCCAACCTGGAGGAGGTGGCTGAGGTGGTCCGTATCACCAAGCAGCTGACCCTGGGGAGGAC
Y
GTAGAGCCCCAGGACATCGCCGTCCTCACGCCCTACAACGCGCAGGCCTCTGAGATCAGCAAGGCCCTTCGGCGAGAGGGCATCGCCGGGGTGGCCGTGT
Celera SNP ID:                hCV30053617
SNP Position Transcript:      5931
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 1943,(T,ACC) (T,ACT)



Context              (SEQ ID NO:1870):
ACATGTCCATGGCGTCCTGGCTGAATCTGGCTGAGATTGCGCAGGTCGTCGAGAAGGTGCAGGAGGCCTACAACACCTGGCCCAGCTGCTGGGGCGGCCG
Y
GAGCAGAGGTGCATCTGTGTCGTTTCCCACGGTGCCCAGGTCAGTGCACTGAGGCAGGAGCTGAGGAGGCGGGACCTAGGCCAGGTGTCTGTCGGCAGTT
Celera SNP ID:                hCV3250247
SNP Position Transcript:      870
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,11|C,7)  african american(T,13|C,15)  total(T,24|C,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 256,(R,CGC) (R,CGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:364, 256,(R,CGC) (R,CGT)



Context              (SEQ ID NO:1871):
GCGCGAAGGCAGGGCGCTGCGTTCTATGCCCCCGGCAGGGAGCCAGTGCCCATGCTGCCGGCCAGCCTCTGCCAGGACGTCCTCAGCCTCCTGCCTGGCC
Y
GGACCGCCTGGCCATCTCCCTGTTCCTCACCATGGAGAAGGCCAGTGGCCAGCTGAAGAGCCTGCGCTTTGCACCCTCCGTGGTCCAGTCTGACCGCCAG
Celera SNP ID:                hCV25990841
SNP Position Transcript:      2660
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:364, 853,(L,CTG) (R,CGG)



Context              (SEQ ID NO:1872):
TGCCTGGGCCAGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCCACACTCTTGCT
Y
CTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTAAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGA
Celera SNP ID:                hCV2332231
SNP Position Transcript:      6532
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1873):
AGCCTGCCTCCTGGCCTCAGGATCTCCCTGGGGCAGGAAGTGGGTGGACTTGGAGGAGGAACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGC
R
TCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTGTAAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGG
Celera SNP ID:                hCV9729618
SNP Position Transcript:      6542
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,3|G,2) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1874):
GGAACGGCAAGGGCCGGTCCCCACACTCTTGCTCCTCCTGGGCATCTGGGGACAGGAACACCTCTCAGGGTGGCCAAGAGGGGCTTCCTTGGGACCAGTG
Y
AAGGAAGTTCTGCTGTCCCTGGGAAGTCTCAGAACCAGGAAGGAAACCCTGTGGAGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATG
Celera SNP ID:                hCV2729200
SNP Position Transcript:      6599
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,3|C,2) ; no_pop(T,-|C,-) ; no_pop(T,272|C,6
8) ; no_pop(T,88|C,30)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1875):
AGGCTGCCCTTTGACCTTTGGACGCCACCTGTAATCACTCTGGATGGTGTCTGTGGAGTTCAGGTTTATTTTCTATTTAAATGAACTAAAAGCCAGCATC
Y
TGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATG
Celera SNP ID:                hCV29747210
SNP Position Transcript:      6754
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1876):
TTTATTTTCTATTTAAATGAACTAAAAGCCAGCATCCTGCCGGGCGTGGTGGCTCACGCCCATAATCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCAC
Y
TGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCC
Celera SNP ID:                hCV30450068
SNP Position Transcript:      6818
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Context              (SEQ ID NO:1877):
GCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGACTCCAGGAGGCGCAGGCTGCAGTGAGCTCTGATGGTACCACTGCACTCCAGC
M
TGGGTGACAGAGCGAGACCCTGTCTTAAAAAAAAAAACAAAACAAAACCAGCATCTGTTACTGGAACAGAGACCTCAGCCCAAGCTCAGGACAAGGAGGC
Celera SNP ID:                hCV30558231
SNP Position Transcript:      7008
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:364, None



Gene Number:                  45
Celera Gene:                  hCG23453 - 104000117541041
Celera Transcript:            hCT14560 - 104000117541042
Public Transcript Accession:
Celera Protein:               hCP40774 - 197000069411474
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W14H(7311458..7733049)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:104):
CGGTGGCGAAGGCGGCTTTAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAGAAACTGAGGCTTCTTGAAGAGCTTGAA
GACACTTGGCTCCCTTATCTGACCCCCAAAGATGATGAATTCTATCAGCAGTGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTAT
CTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTCTCACACTGCACAAGCATGGCTGCTTATTTCGGGACCTGGTTAGGATCCAAGGCAAAGATCTGCT
CACTCCGGTATCTCGCATCCTCATTGGTAATCCAGGCTGCACCTACAAGTACCTGAACACCAGGCTCTTTACGGTCCCCTGGCCAGTGAAAGGGTCTAAT
ATAAAACACACCGAGGCTGAAATAGCCGCTGCTTGTGAGACCTTCCTCAAGCTCAATGACTACCTGCAGATAGAAACCATCCAGGCTTTGGAAGAACTTG
CTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGGGTTCATCCTACAACGGACAAGATGAAGT
GGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTGAAAGAGGAACCTTATTTTGGCATGGGG
AAAATGGCAGTGAGCTGGCATCATGATGAAAATCTGGTGGACAGGTCAGCGGTGGCAGTGTACAGTTATAGCTGTGAAGGCCCTGAAGAGGAAAGTGAGG
ATGACTCTCATCTCGAAGGCAGGGATCCTGATATTTGGCATGTTGGTTTTAAGATCTCATGGGACATAGAGACACCTGGTTTGGCGATACCCCTTCACCA
AGGAGACTGCTATTTCATGCTTGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCA
GAGTGCTCAACAGGAACCTTGGATTATATTTTACAACGCTGTCAGTTGGCTCTGCAGAATGTCTGTGACGATGTGGACAATGATGATGTCTCTTTGAAAT
CCTTTGAGCCTGCAGTTTTGAAACAAGGAGAAGAAATTCATAATGAGGTCGAGTTTGAGTGGCTGAGGCAGTTTTGGTTTCAAGGCAATCGATACAGAAA
GTGCACTGACTGGTGGTGTCAACCCATGGCTCAACTGGAAGCACTGTGGAAGAAGATGGAGGGTGTGACAAATGCTGTGCTTCATGAAGTTAAAAGAGAG
GGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATCCTTGCCTCGCTCACTGCACGCCAGAACCTGAGGAGAGAATGGCATGCCAGGTGCCAGT
CACGAATTGCCCGAACATTACCTGCTGATCAGAAGCCAGAATGTCGGCCATACTGGGAAAAGGATGATGCTTCGATGCCTCTGCCGTTTGACCTCACAGA
CATCGTTTCAGAACTCAGAGGTCAGCTTCTGGAAGCAAAACCCTAGAAGGAGCACAAGTCTCAGGCGGAGGAGAAAAAGAGATCGGCTTTTCTCCTCCAA
CGTTGTCATGGGCTTAAGCAAGAGCAGTGGAGACTTCTCTTGGCCCCTAGATTGTAGCACCCGGGTCCCAATCCAAAACAGCTAGGAAATGGTGCCCATG
AAGTTTTAAATGTTTTAAAATGACCCTGTGTTATAGTCTGATTTGGTGTTAAACAGGACCTTCTTCCCCCAAAATTGTTCAGATTATAAAATGTGAGCCA
TTCAGCCCCCAAGGTCCAGGGCAGGCGACAGGAACGAGCCCAGCGTGTGACAAAGCCTAACCTACTTTCCTCTTTCCCAAGCTTTTTCAGAGACTCTGGA
GTGGACCCAGCCCTCTGGGGAAAGACAGAACTTAGAGACATCCCAGTTACTCACCACACCCATAGTGCTGTCCAATATGGTAGCCACTAGCTAGCTGTGG
CTACTTCAATTTAAATTCAGTTTTAATTTTAATTAAAAATGCAGCTCTTCAGTCGCCCTGGCCACATTTCAAGTGCTTAACAGCCTCATGTGGCTAGTGA
CTGCTGTATTGGACGGTACAGATATGGAACATTTTCATCATCGAAGAAAGTCCTATTGGACAACACTTCTATAAAAAGTTTGAGAGCAGGAATTCTCATT
TCCATTCGTCTGTAGCTTCTATCCCCAAAGGCAAAGAAACTAAAAGAGAAATGACTCATTGAAGATTGGCCTCTTTCCTTTCTCTAAGACAAACCTAAGT
AAAAGCCTGAGCTTTGAGTCCTATGCTCAGCACACGGGAAGGAGATGTTAATAATTAAAATAAAGTTGATATCCTGTCTTTAGGGAGTTCCCTTGATCTC
TTGAAAGAGACACAGCCCCATTTACATTATTTCGTGGATTTCACCAGCATAGTATAGTTTTTTTCTGTAAGTCCCTCATTCTTATGTAATAACAGGTGGA
ACTGAGGTTTGAAGAACCTCAGTGGCCCATCCTGATGACATTGGAGACTCAAAGAGACAAGAGAGAGTAGGGTTTAAAACCTGAGCTTTAAGACTCCCAC
TAGCTTCGTGTCCTTTGGCATGTTAACGTGCCTCAGTTTCCTCATCTGTATAATGGGGATATATGAAAGGCACCAGTCCTAAGGTGAACATTAAGTGAGA
TGATTCTAGTTACAGACTTAGAACAATTTCCAGCACATAGTTAAATATCCAGGAAATTCTGGTACTGTTATGTGTGGGTGAGCTGACCTGGATGTAGATG
TTTTCCTCTCTCTTGCTGACCCCTCCGCCAGTTTTGTCTTGTGATGCCATTAACACATCTCTCCCTTTCTGACCTGGCTCCTGCCCATTGGTGTCCCAAG
AAATCGTGAGAATAGTTAGCCCCCCGTCTCCCCAGCCTGTTGCTTTCTCGTGTAGTTGTTCACAGTAGTTGAGAAGTTGAAGAGCTTTTGCCTATTGAAG
GTGCACTGAGAATAAACTCTTTCCTGCCACCAGAATTGCAGTGGTTCACGGCCTGCACTCATTCCCATGAATGCAGTTAATAGCCACAGAAATGTCACAT
TAAGCAAAGCAGCCAGGGTCTCATCGTGTTGAGACTCGAGTCTCTCAGACCTTGGATTCATTCCCTGGTGTCTTTGAGCCTCAGTTTCCTCATTGGTAAA
AGAGAAGTGAAGCAGTGTCTCACAGGGTCATTACAGAGATTAAATGAAATAAATGAAATAACATAGACCAGGAGGGCGTGGTGTTTAAAAGTCACAGATG
GGGCACCCTCGGGCCATCCAGCCCAGTGTTTTCTTTAGCCCCTATGATGTTCATTTTTTGTTATATCCCATTAGGTGCCCATATTTAAAAATTGGGAGAT
TTCACATAAAATTAAAAGGTCTGCATTTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACACAGTCTCACTCTGTCACCAGGCTAGAGTGCAGTGGCA
C


Protein Sequence     (SEQ ID NO:365):
MKRTPTAEEREREAKKLRLLEELEDTWLPYLTPKDDEFYQQWQLKYPKLILREASSVSEELHKEVQEAFLTLHKHGCLFRDLVRIQGKDLLTPVSRILIG
NPGCTYKYLNTRLFTVPWPVKGSNIKHTEAEIAAACETFLKLNDYLQIETIQALEELAAKEKANEDAVPLCMSADFPRVGMGSSYNGQDEVDIKSRAAYN
VTLLNFMDPQKMPYLKEEPYFGMGKMAVSWHHDENLVDRSAVAVYSYSCEGPEEESEDDSHLEGRDPDIWHVGFKISWDIETPGLAIPLHQGDCYFMLDD
LNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQRCQLALQNVCDDVDNDDVSLKSFEPAVLKQGEEIHNEVEFEWLRQFWFQGNRYRKCTDWWCQPM
AQLEALWKKMEGVTNAVLHEVKREGLPVEQRNEILTAILASLTARQNLRREWHARCQSRIARTLPADQKPECRPYWEKDDASMPLPFDLTDIVSELRGQL
LEAKP*



SNP Information


Context              (SEQ ID NO:1878):
GAAACCATCCAGGCTTTGGAAGAACTTGCTGCCAAAGAGAAGGCTAATGAGGATGCTGTGCCATTGTGTATGTCTGCAGATTTCCCCAGGGTTGGGATGG
S
TTCATCCTACAACGGACAAGATGAAGTGGACATTAAGAGCAGAGCAGCATACAACGTAACTTTGCTGAATTTCATGGATCCTCAGAAAATGCCATACCTG
Celera SNP ID:                hCV25940973
SNP Position Transcript:      573
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:365, 182,(G,GGT) (A,GCT)



Context              (SEQ ID NO:1879):
AATGAGGTCGAGTTTGAGTGGCTGAGGCAGTTTTGGTTTCAAGGCAATCGATACAGAAAGTGCACTGACTGGTGGTGTCAACCCATGGCTCAACTGGAAG
Y
ACTGTGGAAGAAGATGGAGGGTGTGACAAATGCTGTGCTTCATGAAGTTAAAAGAGAGGGGCTCCCCGTGGAACAAAGGAATGAAATCTTGACTGCCATC
Celera SNP ID:                hDV70661787
SNP Position Transcript:      1242
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,-|T,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:365, 405,(A,GCA) (V,GTA)



Context              (SEQ ID NO:1880):
GCACCCCGACTGCCGAGGAACGAGAGCGCGAAGCTAAGAAACTGAGGCTTCTTGAAGAGCTTGAAGACACTTGGCTCCCTTATCTGACCCCCAAAGATGA
Y
GAATTCTATCAGCAGTGGCAGCTGAAATATCCTAAACTAATTCTCCGAGAAGCCAGCAGTGTATCTGAGGAGCTCCATAAAGAGGTTCAAGAAGCCTTTC
Celera SNP ID:                hCV32396209
SNP Position Transcript:      136
SNP Source:                   ABI_Val
Population(Allele,Count):     no_pop(T,120|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:365, 36,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1881):
TGTTAAACAGGACCTTCTTCCCCCAAAATTGTTCAGATTATAAAATGTGAGCCATTCAGCCCCCAAGGTCCAGGGCAGGCGACAGGAACGAGCCCAGCGT
R
TGACAAAGCCTAACCTACTTTCCTCTTTCCCAAGCTTTTTCAGAGACTCTGGAGTGGACCCAGCCCTCTGGGGAAAGACAGAACTTAGAGACATCCCAGT
Celera SNP ID:                hCV2811743
SNP Position Transcript:      1847
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,10|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:365, None



Context              (SEQ ID NO:1882):
AGCTCTTCAGTCGCCCTGGCCACATTTCAAGTGCTTAACAGCCTCATGTGGCTAGTGACTGCTGTATTGGACGGTACAGATATGGAACATTTTCATCATC
R
AAGAAAGTCCTATTGGACAACACTTCTATAAAAAGTTTGAGAGCAGGAATTCTCATTTCCATTCGTCTGTAGCTTCTATCCCCAAAGGCAAAGAAACTAA
Celera SNP ID:                hCV15907642
SNP Position Transcript:      2143
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:365, None



Context              (SEQ ID NO:1883):
CTCTTCAGTCGCCCTGGCCACATTTCAAGTGCTTAACAGCCTCATGTGGCTAGTGACTGCTGTATTGGACGGTACAGATATGGAACATTTTCATCATCGA
W
GAAAGTCCTATTGGACAACACTTCTATAAAAAGTTTGAGAGCAGGAATTCTCATTTCCATTCGTCTGTAGCTTCTATCCCCAAAGGCAAAGAAACTAAAA
Celera SNP ID:                hCV16275073
SNP Position Transcript:      2145
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:365, None



Context              (SEQ ID NO:1884):
CGCCAGTTTTGTCTTGTGATGCCATTAACACATCTCTCCCTTTCTGACCTGGCTCCTGCCCATTGGTGTCCCAAGAAATCGTGAGAATAGTTAGCCCCCC
G
TCTCCCCAGCCTGTTGCTTTCTCGTGTAGTTGTTCACAGTAGTTGAGAAGTTGAAGAGCTTTTGCCTATTGAAGGTGCACTGAGAATAAACTCTTTCCTG
Celera SNP ID:                hCV11776422
SNP Position Transcript:      2926
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,9|-,6)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:365, None



Context              (SEQ ID NO:1885):
TATGATGTTCATTTTTTGTTATATCCCATTAGGTGCCCATATTTAAAAATTGGGAGATTTCACATAAAATTAAAAGGTCTGCATTTTCTTTTTTCTTTTC
T
TTTTTTTTTTTTTTGAGACACAGTCTCACTCTGTCACCAGGCTAGAGTGCAGTGGCAC
Celera SNP ID:                hCV27206592
SNP Position Transcript:      3443
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,12|-,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:365, None



Gene Number:                  46
Celera Gene:                  hCG23454 - 104000117544928
Celera Transcript:            hCT14561 - 104000117544929
Public Transcript Accession:  NM_015272
Celera Protein:               hCP40775 - 197000069411453
Public Protein Accession:     NP_056087
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W14H(7207906..7323147)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:105):
CGGCGCTATAGCAACGGTAGCTAGCTGCAGGGCCAGTGGCACGGCCATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGT
CTAAACCTCTTTGGAATGGGAGGGTTACAAGAAACTTCAACAACACGGACAATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAG
ACAGATTTTTGCGTTTGCATGATGAGAACATTTTACTTAAACAGCATGCCCGCAAGCAGGAGGATAAAATTAAAAGAATGGCCACCAAGTTAATACGGCT
AGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAGCGGCTGGGACGAGATGTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAA
GTTCATGAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTTCAAACCCAGGGTTACAGGCAAACTCCATACAATA
ATGTACAATCTCGTATTAACACTGGGCGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGGAAAGGTATAAAATTCCAAGATGCAGATGT
AGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAATTTAGAAAACGTTATTCAGTCACAA
AGAGGCCAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTATCTCTTCTTCAGCTTCGAG
AACAGCAAGCTACAGATCAAAGGTCAAATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAATGCTCTTTCAGCAAT
GGAAGGAAAATTTATTCAGCTTCAAGAGAAGCAAAGAACTCTCAGAATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATGCAACTTAAA
GAGCAGCGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGAATAGAAGAGCTGCAGGATAGAATTAATGATTTAG
AAAAGGAACGGGAACTTTTAAAGGAAAACTATGATAAACTTTATGACAGTGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTAAAGGAGCAACAGCT
GAAAGTGCAGATTGCTCAGCTCGAGACTGCCTTGAAGTCTGACTTAACAGACAAAACTGAAATCCTTGACAGATTAAAAACTGAAAGAGATCAAAATGAA
AAACTCGTTCAAGAGAATAGAGAACTACAGTTACAGTATCTGGAACAAAAGCAACAACTTGATGAACTTAAAAAACGCATAAAATTGTACAACCAGGAGA
ATGATATTAATGCTGATGAATTGAGTGAAGCTCTCCTACTTATAAAGGCTCAAAAAGAACAAAAAAATGGAGACCTTTCCTTTTTAGTGAAAGTAGATAG
TGAAATTAATAAAGATCTAGAACGCTCTATGAGAGAGCTGCAAGCAACTCATGCAGAAACGGTGCAAGAGCTGGAAAAGACAAGAAACATGCTAATTATG
CAACACAAAATTAATAAAGATTATCAGATGGAGGTTGAGGCAGTGACCCGTAAGATGGAAAATTTGCAGCAAGATTATGAACTCAAAGTGGAACAGTATG
TTCATCTTCTTGATATCAGGGCTGCACGTATCCATAAACTAGAAGCCCAATTAAAGGATATTGCCTATGGCACCAAGCAGTACAAATTTAAACCAGAAAT
CATGCCAGATGACTCTGTTGATGAATTTGATGAAACCATCCACTTAGAACGAGGCGAAAATCTATTTGAAATCCATATCAACAAAGTAACCTTTTCTTCT
GAAGTTTTACAGGCATCTGGAGATAAAGAGCCTGTCACTTTCTGTACCTATGCTTTCTATGATTTTGAACTACAGACAACTCCCGTAGTGCGAGGCCTTC
ATCCCGAATATAACTTCACTTCTCAATATCTTGTTCATGTTAATGACTTATTTTTGCAATATATTCAGAAGAATACTATCACCCTTGAGGTCCACCAGGC
TTATAGCACAGAATATGAAACAATTGCAGCATGTCAATTAAAATTTCACGAAATTCTTGAAAAAAGCGGCCGAATATTTTGTACAGCAAGTTTGATTGGA
ACAAAAGGAGACATCCCAAATTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGATCAAGCAATTCGACTTTATCGAGAAAGGGCAAAGG
CTTTGGGGTATATAACATCAAATTTTAAGGGGCCAGAGCATATGCAGTCGTTAAGTCAGCAAGCACCCAAAACTGCTCAACTCAGTTCTACAGATTCCAC
AGATGGCAACTTAAATGAACTTCACATTACAATAAGATGTTGCAACCACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCCATATGTTGTGTACAAG
TTTTTTGATTTTGCAGACCATGATACAGCTATCATTCCCAGTAGCAATGATCCACAGTTTGATGATCATATGTATTTCCCAGTGCCAATGAATATGGACT
TGGATCGATACCTTAAGTCAGAGTCTCTGAGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTCAATGTGCCTCTGAT
TTCGTTGGCACATGACAGGTGTATCTCAGGAATATTTGAGTTAACAGACCATCAAAAGCATCCTGCTGGCACCATCCATGTTATATTGAAATGGAAATTT
GCTTACCTTCCACCAAGTGGATCAATAACAACTGAAGACTTAGGAAATTTCATTCGCAGCGAAGAGCCAGAAGTTGTTCAAAGACTTCCTCCAGCATCCT
CTGTTAGCACACTAGTTTTAGCACCAAGACCTAAACCAAGACAACGTTTAACACCTGTAGATAAGAAGGTATCTTTCGTGGATATCATGCCACATCAGAG
TGATGTTTCACAAGAAGGCAGTGTAGATGAGGTAAAAGAGAATACTGAGAAAATGCAGCAAGGAAAAGATGATGTGTCTTTACTATCTGAAGGTCAGCTT
GCAGAACAAAGCTTGGCATCTTCTGAAGATGAAACAGAAATAACAGAGGACTTGGAACCAGAAGTTGAAGAGGACATGTCAGCTTCTGACAGTGATGACT
GTATTATTCCAGGTCCTATCTCCAAGAATATCAAACAGCCATCAGAAAAAATTCGGATTGAGATCATAGCTCTAAGCCTTAATGATTCTCAAGTAACCAT
GGATGACACTATCCAACGGCTGTTTGTTGAGTGTCGATTCTACAGTCTTCCTGCTGAAGAGACACCCGTGTCACTTCCAAAACCCAAGAGTGGGCAGTGG
GTCTACTATAACTATAGCAATGTGATCTACGTGGATAAAGAAAACAACAAAGCAAAGAGAGACATCTTAAAAGCTATACTACAAAAACAAGAGATGCCTA
ATAGAAGCCTTCGCTTCACCGTGGTCAGTGACCCTCCAGAGGACGAGCAGGACCTGGAGTGTGAGGACATTGGCGTGGCTCACGTCGACCTTGCCGACAT
GTTTCAGGAAGGGAGGGACCTCATTGAGCAAAATATCGATGTTTTTGATGCACGAGCAGATGGTGAAGGTATTGGCAAGCTCAGGGTAACAGTCGAAGCT
CTCCATGCCCTCCAGTCTGTCTACAAGCAATACAGAGATGACTTGGAGGCTTGAAAGCAAATGCTCCAGAGGCATCTCCTACTCCTCAGTAAATGCTCAC
ATGAAAGTTCCTACATGAGATTTTTGTAATTACTCTGGTGTATATAATCTATAATTCATGGGAAGCTGGGAGCGGGGAGACCTGGGTTTGAAGTGTTGAA
GTTTTGTATACTTTTTCATTTGTTTATTTCTCTATTCCCTCCTTCTCATAACTGCCACCCCTCAGGACTTAAGTTCTCCATAATGGGCAGTACCTTCTCA
ATAATTTATACCTACGTGATAGCGTGAGAAAGTCTATTTGCATTTTCAACATTTTCTTAGGAAGAACCGAAATGCAATTCCCATTTTTATTTTTAATAAG
CAAAAGCATAAATCTTAGAAAACCTATGAAAAAGAAATACTTTTATGTTATCCCTAATCGTCCCACTAAATGGAATGCCTATGATTAGCTTCATTAAGAG
TTTTATACTGTGAAGATTTTATTAGAAGCAATATATGAAAATTACTTGGATTAATGTGTTAATCTTCCTCTTTAAAATGCTAATATCCATTTTATGCACA
TTAAAGCTCAGTATGCATTTTCTTTGATGCATGCAGTTTCTATCAATTAAATATAAAGAATGAAACTTAGCACCAACTTATTCAATGACTGCAAGTTTTT
TGTCTTTCTTTCTTAAAAGTTCATTCTATTTGTATTATTTTCATACATTTGTAATGGTGACCCAGGGATGTATATATAAAAAGGAGATAGTTATATAGAT
AGATGTGAAATTTACACGTTGAAAACTTAGTATATGACACAGAAAGAAATTATGAAAAGTATAACTCAAATTCTGATATGCTTAGTTAGACGTGAAAGGA
GTATCTTTTTATCATTTTTTAAATTTACATCAAGCCAGTACAGTGCCAGGGTGTATCTGGGTAACCAGATCCTCGAAAAGCAGCTCTGAAAGTTAATTTT
CTAGCTTTTACCCAATCTCACTGAAGGATTTAATTGATATTTTTAATGGAGCTGTGAATCAATGCTGCAAAGGAATTGTCTCTAGAGGTCTAGGATATAA
TGCATTTCATTTTTTAATTTACTTTTTTATTTGTCATTTTCTTCAAAGGATTTTTATAGGCTGTGGGTTTTCACTGTTTGCAAACAGGCTATGTTCCTTC
TTAAGCATATGTAAAGTATTCAGGGAGATAAGTAATTTATTAAAATCTACCTAATTTGCCGTGATATATTAAATCTCTGCTTCAGTGATCACAGACCATT
TCATTTAGAGAATTAGGCATTCCCTCTTTGTGTGATTAAAGCTCTGGAAAATGAGTTCTTTGCTCCTATTTGTGAACATTCAAAGCCTGCTAATGGCAAG
AAGATGGAATAGATTATGAGACAATTCATTACAGTTCAATAGAAAAAAAAAGCAGCTATAATGCAAAAATGCAAGTATGAATATCTGCATATAGTTTGAA
CCATCTGTGCTCTAATGGCTTCAATAATGACTCTCGTCTTTAGAAGGCTTTGAAATGACATCCGTACAATATTAATTTGTTGATGTACATTGTGGGACCA
GTAGAGTATGATCTGACCACAGAAATCTATAAATTCTGTCTATACCACTGGGCCTCCCTGTCCTGGGGCCTGCCATCTCCGAGAAGAATCTTGCTCTCAT
CCAACTCTGCAAATCTTCATAACAACTCGTTCCTCTGGAACCTTCTGG


Protein Sequence     (SEQ ID NO:366):
MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPK
RLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSL
LEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLR
ISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDL
TDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQA
THAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHL
ERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKF
HEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCN
HLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELT
DHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDVSQEGSVDEVKENT
EKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYS
LPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVF
DARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA*



SNP Information


Context              (SEQ ID NO:1886):
AATTCGGATTGAGATCATAGCTCTAAGCCTTAATGATTCTCAAGTAACCATGGATGACACTATCCAACGGCTGTTTGTTGAGTGTCGATTCTACAGTCTT
S
CTGCTGAAGAGACACCCGTGTCACTTCCAAAACCCAAGAGTGGGCAGTGGGTCTACTATAACTATAGCAATGTGATCTACGTGGATAAAGAAAACAACAA
Celera SNP ID:                hCV25942651
SNP Position Transcript:      3350
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|C,37)  african american(G,0|C,36)  total(G,1|C,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:366, 1102,(P,CCT) (A,GCT)



Context              (SEQ ID NO:1887):
TTTTTGATGCACGAGCAGATGGTGAAGGTATTGGCAAGCTCAGGGTAACAGTCGAAGCTCTCCATGCCCTCCAGTCTGTCTACAAGCAATACAGAGATGA
Y
TTGGAGGCTTGAAAGCAAATGCTCCAGAGGCATCTCCTACTCCTCAGTAAATGCTCACATGAAAGTTCCTACATGAGATTTTTGTAATTACTCTGGTGTA
Celera SNP ID:                hCV25934592
SNP Position Transcript:      3742
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,34)  african american(T,7|C,29)  total(T,9|C,63)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:366, 1232,(D,GAC) (D,GAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:366, 1232,(D,GAC) (D,GAT)



Context              (SEQ ID NO:1888):
ATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAATTTAGAAAACGTTATTCAGTCACAAAGAGGCCAGATAGAGGAGTTAGAGCACTTG
R
CTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTATCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAGGTCAAATAT
Celera SNP ID:                hCV25934437
SNP Position Transcript:      731
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:366, 229,(A,GCT) (T,ACT)



Context              (SEQ ID NO:1889):
GCCTAATAGAAGCCTTCGCTTCACCGTGGTCAGTGACCCTCCAGAGGACGAGCAGGACCTGGAGTGTGAGGACATTGGCGTGGCTCACGTCGACCTTGCC
R
ACATGTTTCAGGAAGGGAGGGACCTCATTGAGCAAAATATCGATGTTTTTGATGCACGAGCAGATGGTGAAGGTATTGGCAAGCTCAGGGTAACAGTCGA
Celera SNP ID:                hCV25937352
SNP Position Transcript:      3596
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1116|A,352) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,22
4|A,16)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:366, 1184,(D,GAC) (N,AAC)



Context              (SEQ ID NO:1890):
TTTAGCACCAAGACCTAAACCAAGACAACGTTTAACACCTGTAGATAAGAAGGTATCTTTCGTGGATATCATGCCACATCAGAGTGATGTTTCACAAGAA
R
GCAGTGTAGATGAGGTAAAAGAGAATACTGAGAAAATGCAGCAAGGAAAAGATGATGTGTCTTTACTATCTGAAGGTCAGCTTGCAGAACAAAGCTTGGC
Celera SNP ID:                hCV1230646
SNP Position Transcript:      3017
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2242|A,690) ; no_pop(G,14|A,8) ; no_pop(G,-|A,-) ; no_pop(G,4
56|A,240) ; no_pop(G,214|A,22)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:366, 991,(G,GGC) (S,AGC)



Context              (SEQ ID NO:1891):
TTTTGTACAGCAAGTTTGATTGGAACAAAAGGAGACATCCCAAATTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGATCAAGCAATTC
R
ACTTTATCGAGAAAGGGCAAAGGCTTTGGGGTATATAACATCAAATTTTAAGGGGCCAGAGCATATGCAGTCGTTAAGTCAGCAAGCACCCAAAACTGCT
Celera SNP ID:                hCV15757960
SNP Position Transcript:      2277
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,12|G,228)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:366, 744,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:1892):
CAGAGTCTCTGAGTTTTTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGTCAATGTGCCTCTGATTTCGTTGGCACATGACAG
R
TGTATCTCAGGAATATTTGAGTTAACAGACCATCAAAAGCATCCTGCTGGCACCATCCATGTTATATTGAAATGGAAATTTGCTTACCTTCCACCAAGTG
Celera SNP ID:                hCV25937246
SNP Position Transcript:      2719
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,0)  african american(G,34|A,2)  total(G,70|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:366, 891,(R,AGG) (R,AGA)



Context              (SEQ ID NO:1893):
GAGATCAAAATGAAAAACTCGTTCAAGAGAATAGAGAACTACAGTTACAGTATCTGGAACAAAAGCAACAACTTGATGAACTTAAAAAACGCATAAAATT
R
TACAACCAGGAGAATGATATTAATGCTGATGAATTGAGTGAAGCTCTCCTACTTATAAAGGCTCAAAAAGAACAAAAAAATGGAGACCTTTCCTTTTTAG
Celera SNP ID:                hCV25941149
SNP Position Transcript:      1387
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,34|A,2)  total(G,71|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:366, 447,(L,TTG) (L,TTA)



Context              (SEQ ID NO:1894):
GTCAGCTTGCAGAACAAAGCTTGGCATCTTCTGAAGATGAAACAGAAATAACAGAGGACTTGGAACCAGAAGTTGAAGAGGACATGTCAGCTTCTGACAG
Y
GATGACTGTATTATTCCAGGTCCTATCTCCAAGAATATCAAACAGCCATCAGAAAAAATTCGGATTGAGATCATAGCTCTAAGCCTTAATGATTCTCAAG
Celera SNP ID:                hCV31071269
SNP Position Transcript:      3193
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,120|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:366, 1049,(S,AGT) (S,AGC)



Context              (SEQ ID NO:1895):
CCTCCAGTCTGTCTACAAGCAATACAGAGATGACTTGGAGGCTTGAAAGCAAATGCTCCAGAGGCATCTCCTACTCCTCAGTAAATGCTCACATGAAAGT
W
CCTACATGAGATTTTTGTAATTACTCTGGTGTATATAATCTATAATTCATGGGAAGCTGGGAGCGGGGAGACCTGGGTTTGAAGTGTTGAAGTTTTGTAT
Celera SNP ID:                hCV25937004
SNP Position Transcript:      3809
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|A,7)  african american(T,14|A,22)  total(T,41|A,29)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:366, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:366, None



Context              (SEQ ID NO:1896):
ATGTTATCCCTAATCGTCCCACTAAATGGAATGCCTATGATTAGCTTCATTAAGAGTTTTATACTGTGAAGATTTTATTAGAAGCAATATATGAAAATTA
S
TTGGATTAATGTGTTAATCTTCCTCTTTAAAATGCTAATATCCATTTTATGCACATTAAAGCTCAGTATGCATTTTCTTTGATGCATGCAGTTTCTATCA
Celera SNP ID:                hCV1127185
SNP Position Transcript:      4245
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,7|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:366, None



Context              (SEQ ID NO:1897):
GCAAGTTTTTTGTCTTTCTTTCTTAAAAGTTCATTCTATTTGTATTATTTTCATACATTTGTAATGGTGACCCAGGGATGTATATATAAAAAGGAGATAG
K
TATATAGATAGATGTGAAATTTACACGTTGAAAACTTAGTATATGACACAGAAAGAAATTATGAAAAGTATAACTCAAATTCTGATATGCTTAGTTAGAC
Celera SNP ID:                hCV1230623
SNP Position Transcript:      4491
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,6|G,2) ; no_pop(T,-|G,-) ; no_pop(T,194|G,1
62)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:366, None



Context              (SEQ ID NO:1898):
ACTGGGCCTCCCTGTCCTGGGGCCTGCCATCTCCGAGAAGAATCTTGCTCTCATCCAACTCTGCAAATCTTCATAACAACTCGTTCCTCTGGAACCTTCT
R
G
Celera SNP ID:                hCV1230622
SNP Position Transcript:      5447
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(G,732|A,540) ; no_pop(G,4|A,3) ; no_pop(G,75|A,45)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:366, None



Gene Number:                  47
Celera Gene:                  hCG24570 - 84000314612372
Celera Transcript:            hCT15688 - 84000314612373
Public Transcript Accession:  NM_001549
Celera Protein:               hCP41711 - 197000069450797
Public Protein Accession:     NP_001540
Gene Symbol:                  IFIT4
Protein Name:                  interferon-induced protein with tetratricopeptide repeats 4
Celera Genomic Axis:          GA_x54KRFTF114(43003194..43028235)
Chromosome:                   10
OMIM NUMBER:                  604650
OMIM Information:


Transcript Sequence  (SEQ ID NO:106):
AAAACATCAGCTGATGCGTGCCCTACTCTCCCACCCCTTTATATAGTTCCTTCAGTATTTACTTGAGGCAGACAGGAAGACTTCTGAAGAACAAATCAGC
CTGGTCACCAGCTTTTCGGAACAGCAGAGACACAGAGGGCAGTCATGAGTGAGGTCACCAAGAATTCCCTGGAGAAAATCCTTCCACAGCTGAAATGCCA
TTTCACCTGGAACTTATTCAAGGAAGACAGTGTCTCAAGGGATCTAGAAGATAGAGTGTGTAACCAGATTGAATTTTTAAACACTGAGTTCAAAGCTACA
ATGTACAACTTGTTGGCCTACATAAAACACCTAGATGGTAACAACGAGGCAGCCCTGGAATGCTTACGGCAAGCTGAAGAGTTAATCCAGCAAGAACATG
CTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGTCTACTATCACTTGGGCAGACTCTCAGATGCTCAGATTTATGTAGATAA
GGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAAT
GAAAGGGCGAAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATC
ACCCAGAGAAACAGTTCTCTACTGATGTTTTGAAGCAGGCCATTGAGCTGAGTCCTGATAACCAATACGTCAAGGTTCTCTTGGGCCTGAAACTGCAGAA
GATGAATAAAGAAGCTGAAGGAGAGCAGTTTGTTGAAGAAGCCTTGGAAAAGTCTCCTTGCCAAACAGATGTCCTCCGCAGTGCAGCCAAATTTTACAGA
AGAAAAGGTGACCTAGACAAAGCTATTGAACTGTTTCAACGGGTGTTGGAATCCACACCAAACAATGGCTACCTCTATCACCAGATTGGGTGCTGCTACA
AGGCAAAAGTAAGACAAATGCAGAATACAGGAGAATCTGAAGCTAGTGGAAATAAAGAGATGATTGAAGCACTAAAGCAATATGCTATGGACTATTCGAA
TAAAGCTCTTGAGAAGGGACTGAATCCTCTGAATGCATACTCCGATCTCGCTGAGTTCCTGGAGACGGAATGTTATCAGACACCATTCAATAAGGAAGTC
CCTGATGCTGAAAAGCAACAATCCCATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTT
TGTCCATAAGCAAAAAATCAACTGACAAGGAAGAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTA
TCTTCAAGGATTAATTCATAAGCAGAATGGAGATCTGCTGCAAGCAGCCAAATGTTATGAGAAGGAACTGGGCCGCCTGCTAAGGGATGCCCCTTCAGGC
ATAGGCAGTATTTTCCTGTCAGCATCTGAGCTTGAGGATGGTAGTGAGGAAATGGGCCAGGGCGCAGTCAGCTCCAGTCCCAGAGAGCTCCTCTCTAACT
CAGAGCAACTGAACTGAGACAGAGGAGGAAAACAGAGCATCAGAAGCCTGCAGTGGTGGTTGTGACGGGTAGGAGGATAGGAAGACAGGGGGCCCCAACC
TGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGC
ACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTA
GCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAGTGAGCCAAGAT
TGCGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTCATTATAGTTCA
TTACAGTTACATAGTCCGAAGGTCTTACAACTAATCACTGGTAGCAATAAATGCTTCAGGCCCACATGATGCTGATTAGTTCTCAGTTTTCATTCAGTTC
ACAATATAACCACCATTCCTGCCCTCCCTGCCAAGGGTCATAAATGGTGACTGCCTAACAACAAAATTTGCAGTCTCATCTCATTTTCATCCAGACTTCT
GGAACTCAAAGATTAACTTTTGACTAACCCTGGAATATCTCTTATCTCACTTATAGCTTCAGGCATGTATTTATATGTATTCTTGATAGCAATACCATAA
TCAATGTGTATTCCTGATAGTAATGCTACAATAAATCCAAACATTTCAACTCTGTTAGAA


Protein Sequence     (SEQ ID NO:367):
MSEVTKNSLEKILPQLKCHFTWNLFKEDSVSRDLEDRVCNQIEFLNTEFKATMYNLLAYIKHLDGNNEAALECLRQAEELIQQEHADQAEIRSLVTWGNY
AWVYYHLGRLSDAQIYVDKVKQTCKKFSNPYSIEYSELDCEEGWTQLKCGRNERAKVCFEKALEEKPNNPEFSSGLAIAMYHLDNHPEKQFSTDVLKQAI
ELSPDNQYVKVLLGLKLQKMNKEAEGEQFVEEALEKSPCQTDVLRSAAKFYRRKGDLDKAIELFQRVLESTPNNGYLYHQIGCCYKAKVRQMQNTGESEA
SGNKEMIEALKQYAMDYSNKALEKGLNPLNAYSDLAEFLETECYQTPFNKEVPDAEKQQSHQRYCNLQKYNGKSEDTAVQHGLEGLSISKKSTDKEEIKD
QPQNVSENLLPQNAPNYWYLQGLIHKQNGDLLQAAKCYEKELGRLLRDAPSGIGSIFLSASELEDGSEEMGQGAVSSSPRELLSNSEQLN*



SNP Information


Context              (SEQ ID NO:1899):
AAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGC
R
AAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGA
Celera SNP ID:                hCV25763170
SNP Position Transcript:      609
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,32)  total(A,1|G,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 155,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 155,(A,GCG) (A,GCA)



Context              (SEQ ID NO:1900):
AAGCACTAAAGCAATATGCTATGGACTATTCGAATAAAGCTCTTGAGAAGGGACTGAATCCTCTGAATGCATACTCCGATCTCGCTGAGTTCCTGGAGAC
R
GAATGTTATCAGACACCATTCAATAAGGAAGTCCCTGATGCTGAAAAGCAACAATCCCATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTG
Celera SNP ID:                hCV25953490
SNP Position Transcript:      1167
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,32)  african american(A,2|G,34)  total(A,2|G,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 341,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1901):
CCCTGGAATGCTTACGGCAAGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGT
Y
TACTATCACTTGGGCAGACTCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTG
Celera SNP ID:                hCV25763893
SNP Position Transcript:      453
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,37|T,1)  total(C,73|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 103,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1902):
AGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGTCTACTATCACTTGGGCAGA
Y
TCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGG
Celera SNP ID:                hCV25922926
SNP Position Transcript:      472
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:367, 110,(L,CTC) (F,TTC)



Context              (SEQ ID NO:1903):
CATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTG
R
CAAGGAAGAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTATCTTCAAGGATTAATTCATAAGCAG
Celera SNP ID:                hCV25602421
SNP Position Transcript:      1325
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:367, 394,(D,GAC) (G,GGC)



Context              (SEQ ID NO:1904):
TGCCCTACTCTCCCACCCCTTTATATAGTTCCTTCAGTATTTACTTGAGGCAGACAGGAAGACTTCTGAAGAACAAATCAGCCTGGTCACCAGCTTTTCG
S
AACAGCAGAGACACAGAGGGCAGTCATGAGTGAGGTCACCAAGAATTCCCTGGAGAAAATCCTTCCACAGCTGAAATGCCATTTCACCTGGAACTTATTC
Celera SNP ID:                hCV25764006
SNP Position Transcript:      119
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|G,37)  african american(C,2|G,36)  total(C,3|G,73)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1905):
AAAACATCAGCTGATGCGTGCCCTACTCTCCCACCCCTTTAT
R
TAGTTCCTTCAGTATTTACTTGAGGCAGACAGGAAGACTTCTGAAGAACAAATCAGCCTGGTCACCAGCTTTTCGGAACAGCAGAGACACAGAGGGCAGT
Celera SNP ID:                hCV25764441
SNP Position Transcript:      43
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,36|G,0)  african american(A,32|G,2)  total(A,68|G,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:367, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,36|G,0)  african american(A,36|G,2)  total(A,72|G,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1906):
TTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAA
R
TGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACC
Celera SNP ID:                hCV11743319
SNP Position Transcript:      588
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 148,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1907):
GTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTGACAAGGAAGAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACC
R
AATTATTGGTATCTTCAAGGATTAATTCATAAGCAGAATGGAGATCTGCTGCAAGCAGCCAAATGTTATGAGAAGGAACTGGGCCGCCTGCTAAGGGATG
Celera SNP ID:                hCV25602422
SNP Position Transcript:      1389
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,27|G,11)  total(A,65|G,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 415,(P,CCA) (P,CCG)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 415,(P,CCA) (P,CCG)



Context              (SEQ ID NO:1908):
AGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTGACAAGGAAGAGATCAAAGACCAACCACAGAATGTATC
Y
GAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTATCTTCAAGGATTAATTCATAAGCAGAATGGAGATCTGCTGCAAGCAGCCAAATGTTATGAGA
Celera SNP ID:                hCV2734197
SNP Position Transcript:      1362
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,2156|C,812) ; no_pop(T,4|C,4) ; no_pop(T,-|C,-) ; no_pop(T,17
8|C,62)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 406,(S,TCT) (S,TCC)



Context              (SEQ ID NO:1909):
CAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAA
R
GCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGAAACAGTTCTCTACTGATG
Celera SNP ID:                hCV26838760
SNP Position Transcript:      627
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:367, 161,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1910):
CAGTCCCAGAGAGCTCCTCTCTAACTCAGAGCAACTGAACTGAGACAGAGGAGGAAAACAGAGCATCAGAAGCCTGCAGTGGTGGTTGTGACGGGTAGGA
S
GATAGGAAGACAGGGGGCCCCAACCTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGC
Celera SNP ID:                hCV2734196
SNP Position Transcript:      1675
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|G,14)  african american(C,3|G,21)  total(C,17|G,35)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None

SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,2|G,10) ; no_pop(C,104|G,232)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1911):
GAGGATAGGAAGACAGGGGGCCCCAACCTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGG
Y
GCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCC
Celera SNP ID:                hCV31660323
SNP Position Transcript:      1773
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1912):
CTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAG
M
ACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTA
Celera SNP ID:                hCV31660322
SNP Position Transcript:      1800
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1913):
GCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCC
Y
GTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGA
Celera SNP ID:                hCV31660321
SNP Position Transcript:      1874
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1914):
GGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGC
K
GGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAGTGAGCCAAGATTGCGCCCCTGCACTCC
Celera SNP ID:                hCV31660320
SNP Position Transcript:      1916
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1915):
TACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCA
R
TGAGCCAAGATTGCGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTC
Celera SNP ID:                hCV31660319
SNP Position Transcript:      1989
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Context              (SEQ ID NO:1916):
ACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAG
W
GAGCCAAGATTGCGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTCA
Celera SNP ID:                hCV31660318
SNP Position Transcript:      1990
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:367, None



Gene Number:                  47
Celera Gene:                  hCG24570 - 84000314612372
Celera Transcript:            hCT1950708 - 84000314612379
Public Transcript Accession:  NM_001549
Celera Protein:               hCP1752243 - 197000069450798
Public Protein Accession:     NP_001540
Gene Symbol:                  IFIT4
Protein Name:                  interferon-induced protein with tetratricopeptide repeats 4
Celera Genomic Axis:          GA_x54KRFTF114(43003194..43028235)
Chromosome:                   10
OMIM NUMBER:                  604650
OMIM Information:


Transcript Sequence  (SEQ ID NO:107):
GACCTAACAGCACCCTGGGTGGAAACCTCTTCAGCATTTGCTTGGAATCAGTAAGCTAAAAACAAAATCAACCGGGACCCCAGCTTTTCAGAACTGCAGG
GAAACAGCCATCATGAGTGAGGTCACCAAGAATTCCCTGGAGAAAATCCTTCCACAGCTGAAATGCCATTTCACCTGGAACTTATTCAAGGAAGACAGTG
TCTCAAGGGATCTAGAAGATAGAGTGTGTAACCAGATTGAATTTTTAAACACTGAGTTCAAAGCTACAATGTACAACTTGTTGGCCTACATAAAACACCT
AGATGGTAACAACGAGGCAGCCCTGGAATGCTTACGGCAAGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACT
TGGGGAAACTACGCCTGGGTCTACTATCACTTGGGCAGACTCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATC
CATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAAGGCTCT
GGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGAAACAGTTCTCTACTGATGTTTTG
AAGCAGGCCATTGAGCTGAGTCCTGATAACCAATACGTCAAGGTTCTCTTGGGCCTGAAACTGCAGAAGATGAATAAAGAAGCTGAAGGAGAGCAGTTTG
TTGAAGAAGCCTTGGAAAAGTCTCCTTGCCAAACAGATGTCCTCCGCAGTGCAGCCAAATTTTACAGAAGAAAAGGTGACCTAGACAAAGCTATTGAACT
GTTTCAACGGGTGTTGGAATCCACACCAAACAATGGCTACCTCTATCACCAGATTGGGTGCTGCTACAAGGCAAAAGTAAGACAAATGCAGAATACAGGA
GAATCTGAAGCTAGTGGAAATAAAGAGATGATTGAAGCACTAAAGCAATATGCTATGGACTATTCGAATAAAGCTCTTGAGAAGGGACTGAATCCTCTGA
ATGCATACTCCGATCTCGCTGAGTTCCTGGAGACGGAATGTTATCAGACACCATTCAATAAGGAAGTCCCTGATGCTGAAAAGCAACAATCCCATCAGCG
CTACTGCAACCTTCAGAAATATAATGGGAAGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTGACAAGGAA
GAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTATCTTCAAGGATTAATTCATAAGCAGAATGGAG
ATCTGCTGCAAGCAGCCAAATGTTATGAGAAGGAACTGGGCCGCCTGCTAAGGGATGCCCCTTCAGGCATAGGCAGTATTTTCCTGTCAGCATCTGAGCT
TGAGGATGGTAGTGAGGAAATGGGCCAGGGCGCAGTCAGCTCCAGTCCCAGAGAGCTCCTCTCTAACTCAGAGCAACTGAACTGAGACAGAGGAGGAAAA
CAGAGCATCAGAAGCCTGCAGTGGTGGTTGTGACGGGTAGGAGGATAGGAAGACAGGGGGCCCCAACCTGGGATTGCTGAGCAGGGAAGCTTTGCATGTT
GCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAG
GTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCA
GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAGTGAGCCAAGATTGCGCCCCTGCACTCCAGCCTGGGCAACAGAG
CAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTCATTATAGTTCATTACAGTTACATAGTCCGAAGGTCTTACAACT
AATCACTGGTAGCAATAAATGCTTCAGGCCCACATGATGCTGATTAGTTCTCAGTTTTCATTCAGTTCACAATATAACCACCATTCCTGCCCTCCCTGCC
AAGGGTCATAAATGGTGACTGCCTAACAACAAAATTTGCAGTCTCATCTCATTTTCATCCAGACTTCTGGAACTCAAAGATTAACTTTTGACTAACCCTG
GAATATCTCTTATCTCACTTATAGCTTCAGGCATGTATTTATATGTATTCTTGATAGCAATACCATAATCAATGTGTATTCCTGATAGTAATGCTACAAT
AAATCCAAACATTTCAACTCTGTTAGAA


Protein Sequence     (SEQ ID NO:368):
MSEVTKNSLEKILPQLKCHFTWNLFKEDSVSRDLEDRVCNQIEFLNTEFKATMYNLLAYIKHLDGNNEAALECLRQAEELIQQEHADQAEIRSLVTWGNY
AWVYYHLGRLSDAQIYVDKVKQTCKKFSNPYSIEYSELDCEEGWTQLKCGRNERAKVCFEKALEEKPNNPEFSSGLAIAMYHLDNHPEKQFSTDVLKQAI
ELSPDNQYVKVLLGLKLQKMNKEAEGEQFVEEALEKSPCQTDVLRSAAKFYRRKGDLDKAIELFQRVLESTPNNGYLYHQIGCCYKAKVRQMQNTGESEA
SGNKEMIEALKQYAMDYSNKALEKGLNPLNAYSDLAEFLETECYQTPFNKEVPDAEKQQSHQRYCNLQKYNGKSEDTAVQHGLEGLSISKKSTDKEEIKD
QPQNVSENLLPQNAPNYWYLQGLIHKQNGDLLQAAKCYEKELGRLLRDAPSGIGSIFLSASELEDGSEEMGQGAVSSSPRELLSNSEQLN*



SNP Information


Context              (SEQ ID NO:1917):
AAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGC
R
AAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGA
Celera SNP ID:                hCV25763170
SNP Position Transcript:      577
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,32)  total(A,1|G,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 155,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 155,(A,GCG) (A,GCA)



Context              (SEQ ID NO:1918):
AAGCACTAAAGCAATATGCTATGGACTATTCGAATAAAGCTCTTGAGAAGGGACTGAATCCTCTGAATGCATACTCCGATCTCGCTGAGTTCCTGGAGAC
R
GAATGTTATCAGACACCATTCAATAAGGAAGTCCCTGATGCTGAAAAGCAACAATCCCATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTG
Celera SNP ID:                hCV25953490
SNP Position Transcript:      1135
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,32)  african american(A,2|G,34)  total(A,2|G,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 341,(T,ACG) (T,ACA)



Context              (SEQ ID NO:1919):
CCCTGGAATGCTTACGGCAAGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGT
Y
TACTATCACTTGGGCAGACTCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTG
Celera SNP ID:                hCV25763893
SNP Position Transcript:      421
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,37|T,1)  total(C,73|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 103,(V,GTC) (V,GTT)



Context              (SEQ ID NO:1920):
AGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGTCTACTATCACTTGGGCAGA
Y
TCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGG
Celera SNP ID:                hCV25922926
SNP Position Transcript:      440
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:368, 110,(L,CTC) (F,TTC)



Context              (SEQ ID NO:1921):
CATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTG
R
CAAGGAAGAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTATCTTCAAGGATTAATTCATAAGCAG
Celera SNP ID:                hCV25602421
SNP Position Transcript:      1293
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:368, 394,(D,GAC) (G,GGC)



Context              (SEQ ID NO:1922):
TTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAA
R
TGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACC
Celera SNP ID:                hCV11743319
SNP Position Transcript:      556
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 148,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1923):
GTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTGACAAGGAAGAGATCAAAGACCAACCACAGAATGTATCTGAAAATCTGCTTCCACAAAATGCACC
R
AATTATTGGTATCTTCAAGGATTAATTCATAAGCAGAATGGAGATCTGCTGCAAGCAGCCAAATGTTATGAGAAGGAACTGGGCCGCCTGCTAAGGGATG
Celera SNP ID:                hCV25602422
SNP Position Transcript:      1357
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,27|G,11)  total(A,65|G,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 415,(P,CCA) (P,CCG)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 415,(P,CCA) (P,CCG)



Context              (SEQ ID NO:1924):
AGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGTTTGTCCATAAGCAAAAAATCAACTGACAAGGAAGAGATCAAAGACCAACCACAGAATGTATC
Y
GAAAATCTGCTTCCACAAAATGCACCAAATTATTGGTATCTTCAAGGATTAATTCATAAGCAGAATGGAGATCTGCTGCAAGCAGCCAAATGTTATGAGA
Celera SNP ID:                hCV2734197
SNP Position Transcript:      1330
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,2156|C,812) ; no_pop(T,4|C,4) ; no_pop(T,-|C,-) ; no_pop(T,17
8|C,62)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 406,(S,TCT) (S,TCC)



Context              (SEQ ID NO:1925):
GACCTAACAG
Y
ACCCTGGGTGGAAACCTCTTCAGCATTTGCTTGGAATCAGTAAGCTAAAAACAAAATCAACCGGGACCCCAGCTTTTCAGAACTGCAGGGAAACAGCCAT
Celera SNP ID:                hCV25602411
SNP Position Transcript:      11
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,27|T,11)  total(C,63|T,11)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1926):
CAAATCCATACAGTATTGAGTATTCTGAACTTGACTGTGAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAA
R
GCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGACTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGAAACAGTTCTCTACTGATG
Celera SNP ID:                hCV26838760
SNP Position Transcript:      595
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:368, 161,(K,AAG) (K,AAA)



Context              (SEQ ID NO:1927):
CAGTCCCAGAGAGCTCCTCTCTAACTCAGAGCAACTGAACTGAGACAGAGGAGGAAAACAGAGCATCAGAAGCCTGCAGTGGTGGTTGTGACGGGTAGGA
S
GATAGGAAGACAGGGGGCCCCAACCTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGC
Celera SNP ID:                hCV2734196
SNP Position Transcript:      1643
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|G,14)  african american(C,3|G,21)  total(C,17|G,35)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None

SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,2|G,10) ; no_pop(C,104|G,232)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1928):
GAGGATAGGAAGACAGGGGGCCCCAACCTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGG
Y
GCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCC
Celera SNP ID:                hCV31660323
SNP Position Transcript:      1741
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1929):
CTGGGATTGCTGAGCAGGGAAGCTTTGCATGTTGCTCTAAGGTACATTTTTAAAGAGTTGTTTTTTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAG
M
ACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTA
Celera SNP ID:                hCV31660322
SNP Position Transcript:      1768
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1930):
GCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCC
Y
GTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGA
Celera SNP ID:                hCV31660321
SNP Position Transcript:      1842
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1931):
GGTGGGCGGATCACGAGGTCTGGAGTTTGAGACCATCCTGGCTAACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGC
K
GGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAGTGAGCCAAGATTGCGCCCCTGCACTCC
Celera SNP ID:                hCV31660320
SNP Position Transcript:      1884
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1932):
TACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCA
R
TGAGCCAAGATTGCGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTC
Celera SNP ID:                hCV31660319
SNP Position Transcript:      1957
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Context              (SEQ ID NO:1933):
ACAAAAAATTAGCCAGGCGTGGTGGCTGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAAGAGGTTGCAG
W
GAGCCAAGATTGCGCCCCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGTTTTCTCATGTTCA
Celera SNP ID:                hCV31660318
SNP Position Transcript:      1958
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:368, None



Gene Number:                  48
Celera Gene:                  hCG24574 - 84000314609182
Celera Transcript:            hCT15692 - 84000314609183
Public Transcript Accession:  NM_000235
Celera Protein:               hCP41709 - 197000069450809
Public Protein Accession:     NP_000226
Gene Symbol:                  LIPA
Protein Name:                  lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
Celera Genomic Axis:          GA_x54KRFTF114(43001455..43142613)
Chromosome:                   10
OMIM NUMBER:                  278000
OMIM Information:             Wolman disease (3); Cholesteryl ester storage disease (3)


Transcript Sequence  (SEQ ID NO:108):
ATGCGTAGGCGACGCGCTGGTAGAGCTGTGGACCTGCCAGCCTGCGAGGCGGAGGACGGGCTCCATCTCTTAGAAACGCCTACGGCGCATGCTCTATGGG
GTCAACTGGGGGGCTGGCAAGCGGCAGCGCTGGTCTGGGGCGGAGTCTCCGAGGCACTTCCCGGTGGCTGGCTGCTCTGATTGGCTGAACAAATAGTCCG
AGGGTGGTGGGCATCCGCCCTCCCGACAAGGCAGACCAGGCCCCCTGCAGGTCCCCTATCCGCACCCCGGCCCCTGAGAGCTGGCACTGCGACTCGAGAC
AGCGGCCCGGCAGGACAGCTCCAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAA
CTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGAT
ATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTC
TAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGG
TCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCA
TTCTGAATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAA
AAGGATTAAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAG
GACTTATTTGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAA
ATCTCTGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAA
CATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCT
CCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTC
AGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTAT
TAATCTAATGAGGAAATATCAGTGAAAGCTGGACTTGAGCTGTGTACCACCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAA
ACACTTGTTTTTCTTTCCCAGGTCTTTTGTTTTTTTATATCCAAGAAAATGATAACTTTGAAGATGCCCAGTTCACTCTAGTTTCAATTAGAAACATACT
AGCTATTTTTTCTTTAATTAGGGCTGGAATAGGAAGCCAGTGTCTCAACCATAGTATTGTCTCTTTAAGTCTTTTAAATATCACTGATGTGTAAAAAGGT
CATTATATCCATTCTGTTTTTAAAATTTAAAATATATTGACTTTTTGCCCTTCATAGGACAAAGTAATATATGTGTTGGAATTTTAAAATTGTGTTGTCA
TTGGTAAATCTGTCACTGACTTAAGCGAGGTATAAAAGTACGCAGTTTTCATGTCCTTGCCTTAAAGAGCTCTCTAGTCTAACGGTCTTGTAGTTAGAGA
TCTAAATGACATTTTATCATGTTTTCCTGCAGCAGGTGCATAGTCAAATCCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTA
TCAAACCTAACTGTGACAGCTGTGATTTGACACGTTTTAATTGCTCAGGTTAAATGAAATAGTTTTCCGGCGTCTTCAAAAACAAATTGCACTGATAAAA
CAAAAACAAAAGTATGTTTTAAATGCTTTGAAGACTGATACACTCAACCATCTATATTCATGAGCTCTCAATTTCATGGCAGGCCATAGTTCTACTTATC
TGAGAAGCAAATCCCTGTGGAGACTATACCACTATTTTTTCTGAGATTAATGTACTCTTGGAGCCCGCTACTGTCGTTATTGATCACATCTGTGTGAAGC
CAAAGCCCCGTGGTTGCCCATGAGAAGTGTCCTTGTTCATTTTCACCCAAATGAAGTGTGAACGTGATGTTTTCGGATGCAAACTCAGCTCAGGGATTCA
TTTTGTGTCTTAGTTTTATATGCATCCTTATTTTTAATACACCTGCTTCACGTCCCTATGTTGGGAAGTCCATATTTGTCTGCTTTTCTTGCAGCATCAT
TTCCTTACAATACTGTCCGGTGGACAAAATGACAATTGATATGTTTTTCTGATATAATTACTTTAGCTGCACTAACAGTACAATGCTTGTTAATGGTTAA
TATAGGCAGGGCGAATACTACTTTGTAACTTTTAAAGTCTTAAACTTTTCAATAAAATTGAGTGAGACTTATAGGCCCAAAGAATT


Protein Sequence     (SEQ ID NO:369):
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLA
NSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFAL
GPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ*



SNP Information


Context              (SEQ ID NO:1934):
CAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCC
Y
GGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTT
Celera SNP ID:                hCV697013
SNP Position Transcript:      924
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 200,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1935):
TATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTAC
Y
GACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAA
Celera SNP ID:                hCV18112
SNP Position Transcript:      1395
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 357,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1936):
TCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTA
S
TGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAG
Celera SNP ID:                hCV2334124
SNP Position Transcript:      454
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:369, 43,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:1937):
GTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGA
W
GAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTA
Celera SNP ID:                hCV27862937
SNP Position Transcript:      760
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 145,(D,GAT) (E,GAA)



Context              (SEQ ID NO:1938):
GTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAAC
W
GGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAA
Celera SNP ID:                hCV27532239
SNP Position Transcript:      608
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 95,(W,TGG) (R,AGG)



Context              (SEQ ID NO:1939):
TGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGT
Y
ACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACA
Celera SNP ID:                hCV2334133
SNP Position Transcript:      1206
SNP Source:                   CDX
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 294,(L,TTA) (S,TCA)



Context              (SEQ ID NO:1940):
TTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTA
Y
ACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATA
Celera SNP ID:                hCV2334134
SNP Position Transcript:      1208
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 295,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:1941):
ACTCGAGACAGCGGCCCGGCAGGACAGCTCCAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCT
R
GAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGA
Celera SNP ID:                hCV16172171
SNP Position Transcript:      392
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,30|A,2)  total(G,65|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 23,(G,GGA) (R,AGA)

SNP Source:                   HGMD; dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,6|G,6) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 23,(G,GGA) (R,AGA)



Context              (SEQ ID NO:1942):
CCAGCCTGCGAGGCGGAGGACGGGCTCCATCTCTTAGAAACGCCTACGGCGCATGCTCTATGGGGTCAACTGGGGGGCTGGCAAGCGGCAGCGCTGGTCT
R
GGGCGGAGTCTCCGAGGCACTTCCCGGTGGCTGGCTGCTCTGATTGGCTGAACAAATAGTCCGAGGGTGGTGGGCATCCGCCCTCCCGACAAGGCAGACC
Celera SNP ID:                hCV8870359
SNP Position Transcript:      137
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1943):
AAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTA
W
CCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGA
Celera SNP ID:                hCV18114
SNP Position Transcript:      1297
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:369, 324,(Y,TAT) (*,TAA)



Context              (SEQ ID NO:1944):
TTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGT
R
GATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAA
Celera SNP ID:                hCV27537296
SNP Position Transcript:      672
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:369, 116,(W,TGG) (*,TAG)



Context              (SEQ ID NO:1945):
TGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGC
R
GGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCT
Celera SNP ID:                hCV18113
SNP Position Transcript:      1349
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 342,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1946):
TATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTGGGTC
Y
TGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTTCTTCCC
Celera SNP ID:                hCV27531588
SNP Position Transcript:      930
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 202,(P,CCT) (L,CTT)



Context              (SEQ ID NO:1947):
CTGTGGACCTGCCAGCCTGCGAGGCGGAGGACGGGCTCCATCTCTTAGAAACGCCTACGGCGCATGCTCTATGGGGTCAACTGGGGGGCTGGCAAGCGGC
M
GCGCTGGTCTGGGGCGGAGTCTCCGAGGCACTTCCCGGTGGCTGGCTGCTCTGATTGGCTGAACAAATAGTCCGAGGGTGGTGGGCATCCGCCCTCCCGA
Celera SNP ID:                hCV3026653
SNP Position Transcript:      126
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,3|A,2) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1948):
ATGCGTAGGCGACGCGCTGGTAGAGCTGTGGACCTGCCAGCCTGCGAGGCGGAGGAC
S
GGCTCCATCTCTTAGAAACGCCTACGGCGCATGCTCTATGGGGTCAACTGGGGGGCTGGCAAGCGGCAGCGCTGGTCTGGGGCGGAGTCTCCGAGGCACT
Celera SNP ID:                hCV31660445
SNP Position Transcript:      58
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1949):
CCCCTGAGAGCTGGCACTGCGACTCGAGACAGCGGCCCGGCAGGACAGCTCCAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGG
M
CCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGA
Celera SNP ID:                hCV8870360
SNP Position Transcript:      371
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,126|C,58) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,664|
C,296)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 16,(T,ACC) (P,CCC)



Context              (SEQ ID NO:1950):
GTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAAC
V
TAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAA
Celera SNP ID:                hCV697014
SNP Position Transcript:      711
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 129,(H,CAT) (R,CGT)



Context              (SEQ ID NO:1951):
TGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAAC
Y
GAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAA
Celera SNP ID:                hCV2334125
SNP Position Transcript:      518
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:369, 65,(*,TGA) (R,CGA)



Context              (SEQ ID NO:1952):
GAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATG
K
CTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGC
Celera SNP ID:                hCV2334126
SNP Position Transcript:      585
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 87,(G,GGC) (V,GTC)



Context              (SEQ ID NO:1953):
ATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGTTTTCTTCTGTGT
K
GATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGC
Celera SNP ID:                hCV2334131
SNP Position Transcript:      1121
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:369, 266,(*,TGA) (G,GGA)



Context              (SEQ ID NO:1954):
CTCTGTGGAAATCTCTGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTT
S
TGTGCAAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAG
Celera SNP ID:                hCV2334132
SNP Position Transcript:      1191
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 289,(C,TGT) (S,TCT)



Context              (SEQ ID NO:1955):
AAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTAT
Y
TGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGT
Celera SNP ID:                hCV16170687
SNP Position Transcript:      1008
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:369, 228,(F,TTT) (S,TCT)



Context              (SEQ ID NO:1956):
GGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTGAAAGCTGGACTTGAG
Y
TGTGTACCACCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAAACACTTGTTTTTCTTTCCCAGGTCTTTTGTTTTTTTATAT
Celera SNP ID:                hCV31660485
SNP Position Transcript:      1540
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1957):
TGGTAAATCTGTCACTGACTTAAGCGAGGTATAAAAGTACGCAGTTTTCATGTCCTTGCCTTAAAGAGCTCTCTAGTCTAACGGTCTTGTAGTTAGAGAT
Y
TAAATGACATTTTATCATGTTTTCCTGCAGCAGGTGCATAGTCAAATCCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTATC
Celera SNP ID:                hCV31660486
SNP Position Transcript:      2002
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1958):
CAGGTGCATAGTCAAATCCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTATCAAACCTAACTGTGACAGCTGTGATTTGACA
Y
GTTTTAATTGCTCAGGTTAAATGAAATAGTTTTCCGGCGTCTTCAAAAACAAATTGCACTGATAAAACAAAAACAAAAGTATGTTTTAAATGCTTTGAAG
Celera SNP ID:                hCV30283830
SNP Position Transcript:      2133
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1959):
ATTTTTTCTGAGATTAATGTACTCTTGGAGCCCGCTACTGTCGTTATTGATCACATCTGTGTGAAGCCAAAGCCCCGTGGTTGCCCATGAGAAGTGTCCT
W
GTTCATTTTCACCCAAATGAAGTGTGAACGTGATGTTTTCGGATGCAAACTCAGCTCAGGGATTCATTTTGTGTCTTAGTTTTATATGCATCCTTATTTT
Celera SNP ID:                hCV8870387
SNP Position Transcript:      2434
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,86|A,6) ; no_pop(T,1|A,1) ; no_pop(T,-|A,-) ; no_pop(T,604|A,
108)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:369, None



Context              (SEQ ID NO:1960):
ATATGCATCCTTATTTTTAATACACCTGCTTCACGTCCCTATGTTGGGAAGTCCATATTTGTCTGCTTTTCTTGCAGCATCATTTCCTTACAATACTGTC
Y
GGTGGACAAAATGACAATTGATATGTTTTTCTGATATAATTACTTTAGCTGCACTAACAGTACAATGCTTGTTAATGGTTAATATAGGCAGGGCGAATAC
Celera SNP ID:                hCV11743295
SNP Position Transcript:      2618
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,85|T,7) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-) ; no_pop(C,111|T,
9)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:369, None



Gene Number:                  48
Celera Gene:                  hCG24574 - 84000314609182
Celera Transcript:            hCT2321555 - 84000314609211
Public Transcript Accession:  NM_000235
Celera Protein:               hCP1897544 - 197000069450808
Public Protein Accession:     NP_000226
Gene Symbol:                  LIPA
Protein Name:                  lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
Celera Genomic Axis:          GA_x54KRFTF114(43001455..43142613)
Chromosome:                   10
OMIM NUMBER:                  278000
OMIM Information:             Wolman disease (3); Cholesteryl ester storage disease (3)


Transcript Sequence  (SEQ ID NO:109):
ATTGTCAGCTCCTGATTCTGCAGAAAACACGAAACTGAGCTGTACAAAGATGCTGATGAGGGGCTGCAGCATGCAATTCACTTCACCAGCAGTCACTAAG
AATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACA
AACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTC
CTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGC
CAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCA
GTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAAACTGGCCAAGAAC
AAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCT
GGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTT
CTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGTTTTCTTCTGTGTGGAT
TTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGCTGT
TAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATACAATGTGAAGGACATG
CTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATCACCAACTTGGTGTTCCATG
AGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTG
AAAGCTGGACTTGAGCTGTGTACCACCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAAACACTTGTTTTTCTTTCCCAGGTC
TTTTGTTTTTTTATATCCAAGAAACTATTTTTTCTTTAATTAGGGCTGGAATAGGAAGCCAGTGTCTCAACCATAGTATTG


Protein Sequence     (SEQ ID NO:370):
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLA
NSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFAL
GPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ*



SNP Information


Context              (SEQ ID NO:1961):
CAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCC
Y
GGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTT
Celera SNP ID:                hCV697013
SNP Position Transcript:      700
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 200,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1962):
ATTGTCAGCTCCTGATTCTGCAGAAAACA
Y
GAAACTGAGCTGTACAAAGATGCTGATGAGGGGCTGCAGCATGCAATTCACTTCACCAGCAGTCACTAAGAATGAAAATGCGGTTCTTGGGGTTGGTGGT
Celera SNP ID:                hCV7547461
SNP Position Transcript:      30
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:370, None



Context              (SEQ ID NO:1963):
TATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTAC
Y
GACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAA
Celera SNP ID:                hCV18112
SNP Position Transcript:      1171
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 357,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1964):
TCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTA
S
TGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAG
Celera SNP ID:                hCV2334124
SNP Position Transcript:      230
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:370, 43,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:1965):
GTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGA
W
GAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTA
Celera SNP ID:                hCV27862937
SNP Position Transcript:      536
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 145,(D,GAT) (E,GAA)



Context              (SEQ ID NO:1966):
GTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAAC
W
GGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAA
Celera SNP ID:                hCV27532239
SNP Position Transcript:      384
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 95,(W,TGG) (R,AGG)



Context              (SEQ ID NO:1967):
TGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGT
Y
ACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACA
Celera SNP ID:                hCV2334133
SNP Position Transcript:      982
SNP Source:                   CDX
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 294,(L,TTA) (S,TCA)



Context              (SEQ ID NO:1968):
TTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTA
Y
ACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATA
Celera SNP ID:                hCV2334134
SNP Position Transcript:      984
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 295,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:1969):
AGCATGCAATTCACTTCACCAGCAGTCACTAAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCT
R
GAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGA
Celera SNP ID:                hCV16172171
SNP Position Transcript:      168
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,30|A,2)  total(G,65|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 23,(G,GGA) (R,AGA)

SNP Source:                   HGMD; dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,6|G,6) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 23,(G,GGA) (R,AGA)



Context              (SEQ ID NO:1970):
AAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTA
W
CCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGA
Celera SNP ID:                hCV18114
SNP Position Transcript:      1073
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:370, 324,(Y,TAT) (*,TAA)



Context              (SEQ ID NO:1971):
TTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGT
R
GATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAA
Celera SNP ID:                hCV27537296
SNP Position Transcript:      448
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:370, 116,(W,TGG) (*,TAG)



Context              (SEQ ID NO:1972):
TGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGC
R
GGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCT
Celera SNP ID:                hCV18113
SNP Position Transcript:      1125
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 342,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1973):
TATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTGGGTC
Y
TGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTTCTTCCC
Celera SNP ID:                hCV27531588
SNP Position Transcript:      706
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 202,(P,CCT) (L,CTT)



Context              (SEQ ID NO:1974):
AAGATGCTGATGAGGGGCTGCAGCATGCAATTCACTTCACCAGCAGTCACTAAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGG
M
CCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGA
Celera SNP ID:                hCV8870360
SNP Position Transcript:      147
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,126|C,58) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,664|
C,296)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 16,(T,ACC) (P,CCC)



Context              (SEQ ID NO:1975):
GTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAAC
V
TAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAA
Celera SNP ID:                hCV697014
SNP Position Transcript:      487
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 129,(H,CAT) (R,CGT)



Context              (SEQ ID NO:1976):
TGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAAC
Y
GAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAA
Celera SNP ID:                hCV2334125
SNP Position Transcript:      294
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:370, 65,(*,TGA) (R,CGA)



Context              (SEQ ID NO:1977):
GAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATG
K
CTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGC
Celera SNP ID:                hCV2334126
SNP Position Transcript:      361
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 87,(G,GGC) (V,GTC)



Context              (SEQ ID NO:1978):
ATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGTTTTCTTCTGTGT
K
GATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGC
Celera SNP ID:                hCV2334131
SNP Position Transcript:      897
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:370, 266,(*,TGA) (G,GGA)



Context              (SEQ ID NO:1979):
CTCTGTGGAAATCTCTGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTT
S
TGTGCAAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAG
Celera SNP ID:                hCV2334132
SNP Position Transcript:      967
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 289,(C,TGT) (S,TCT)



Context              (SEQ ID NO:1980):
AAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTAT
Y
TGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGT
Celera SNP ID:                hCV16170687
SNP Position Transcript:      784
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:370, 228,(F,TTT) (S,TCT)



Context              (SEQ ID NO:1981):
GGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTGAAAGCTGGACTTGAG
Y
TGTGTACCACCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAAACACTTGTTTTTCTTTCCCAGGTCTTTTGTTTTTTTATAT
Celera SNP ID:                hCV31660485
SNP Position Transcript:      1316
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:370, None



Gene Number:                  48
Celera Gene:                  hCG24574 - 84000314609182
Celera Transcript:            hCT2321557 - 84000314609197
Public Transcript Accession:  NM_000235
Celera Protein:               hCP1897546 - 197000069450810
Public Protein Accession:     NP_000226
Gene Symbol:                  LIPA
Protein Name:                  lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
Celera Genomic Axis:          GA_x54KRFTF114(43001455..43142613)
Chromosome:                   10
OMIM NUMBER:                  278000
OMIM Information:             Wolman disease (3); Cholesteryl ester storage disease (3)


Transcript Sequence  (SEQ ID NO:110):
CCGGCCCCTGAGAGCTGGCACTGCGACTCGAGACAGCGGCCCGGCAGGACAGCTCCAGACTGTTTTATTATACAGAATGAAAATGCGGTTCTTGGGGTTG
GTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCT
CTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGA
CAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTT
GCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTT
TCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCA
AGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTC
TGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTGAAGT
GGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTC
TAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTT
GACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCG
GGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCT
TGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTGAAAGCTGGACTTGAGCTGTGTACCA
CCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAAACACTTGTTTTTCTTTCCCAGGTCTTTTGTTTTTTTATATCCAAGAAAA
TGATAACTTTGAAGATGCCCAGTTCACTCTAGTTTCAATTAGAAACATACTAGCTATTTTTTCTTTAATTAGGGCTGGAATAGGAAGCCAGTGTCTCAAC
CATAGTATTGTCTCTTTAAGTCTTTTAAATATCACTGATGTGTAAAAAGGTCATTATATCCATTCTGTTTTTAAAATTTAAAATATATTGACTTTTTGCC
CTTCATAGGACAAAGTAATATATGTGTTGGAATTTTAAAATTGTGTTGTCATTGGTAAATCTGTCACTGACTTAAGCGAGGTATAAAAGTACGCAGTTTT
CATGTCCTTGCCTTAAAGAGCTCTCTAGTCTAACGGTCTTGTAGTTAGAGATCTAAATGACATTTTATCATGTTTTCCTGCAGCAGGTGCATAGTCAAAT
CCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTATCAAACCTAACTGTGACAGCTGTGATTTGACACGTTTTAATTGCTCAGG
TTAAATGAAATAGTTTTCCGGCGTCTTCAAAAACAAATTGCACTGATAAAACAAAAACAAAAGTATGTTTTAAATGCTTTGAAGACTGATACACTCAACC
ATCTATATTCATGAGCTCTCAATTTCATGGCAGGCCATAGTTCTACTTATCTGAGAAGCAAATCCCTGTGGAGACTATACCACTATTTTTTCTGAGATTA
ATGTACTCTTGGAGCCCGCTACTGTCGTTATTGATCACATCTGTGTGAAGCCAAAGCCCCGTGGTTGCCCATGAGAAGTGTCCTTGTTCATTTTCACCCA
AATGAAGTGTGAACGTGATGTTTTCGGATGCAAACTCAGCTCAGGGATTCATTTTGTGTCTTAGTTTTATATGCATCCTTATTTTTAATACACCTGCTTC
ACGTCCCTATGTTGGGAAGTCCATATTTGTCTGCTTTTCTTGCAGCATCATTTCCTTACAATACTGTCCGGTGGACAAAATGACAATTGATATGTTTTTC
TGATATAATTACTTTAGCTGCACTAACAGTACAATGCTTGTTAATGGTTAATATAGGCAGGGCGAATACTACTTTGTAACTTTTAAAGTCTTAAACTTTT
CAATAAAATTGAGTGAGACTTATAGGCCCAAAGAATT


Protein Sequence     (SEQ ID NO:371):
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLA
NSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFAL
GPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ*



SNP Information


Context              (SEQ ID NO:1982):
CAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCC
Y
GGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTT
Celera SNP ID:                hCV697013
SNP Position Transcript:      675
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 200,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1983):
TATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTAC
Y
GACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAA
Celera SNP ID:                hCV18112
SNP Position Transcript:      1146
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 357,(L,CTG) (P,CCG)



Context              (SEQ ID NO:1984):
TCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTA
S
TGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAG
Celera SNP ID:                hCV2334124
SNP Position Transcript:      205
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:371, 43,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:1985):
GTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGA
W
GAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTA
Celera SNP ID:                hCV27862937
SNP Position Transcript:      511
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 145,(D,GAT) (E,GAA)



Context              (SEQ ID NO:1986):
GTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAAC
W
GGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAA
Celera SNP ID:                hCV27532239
SNP Position Transcript:      359
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 95,(W,TGG) (R,AGG)



Context              (SEQ ID NO:1987):
TGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGT
Y
ACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACA
Celera SNP ID:                hCV2334133
SNP Position Transcript:      957
SNP Source:                   CDX
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 294,(L,TTA) (S,TCA)



Context              (SEQ ID NO:1988):
TTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTA
Y
ACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATA
Celera SNP ID:                hCV2334134
SNP Position Transcript:      959
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 295,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:1989):
GGCAGGACAGCTCCAGACTGTTTTATTATACAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAGGGGTCT
R
GAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGA
Celera SNP ID:                hCV16172171
SNP Position Transcript:      143
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,30|A,2)  total(G,65|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 23,(G,GGA) (R,AGA)

SNP Source:                   HGMD; dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,6|G,6) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 23,(G,GGA) (R,AGA)



Context              (SEQ ID NO:1990):
AAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTA
W
CCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGA
Celera SNP ID:                hCV18114
SNP Position Transcript:      1048
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:371, 324,(Y,TAT) (*,TAA)



Context              (SEQ ID NO:1991):
TTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGT
R
GATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAA
Celera SNP ID:                hCV27537296
SNP Position Transcript:      423
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:371, 116,(W,TGG) (*,TAG)



Context              (SEQ ID NO:1992):
TGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAGAGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGGAGC
R
GGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATCACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCT
Celera SNP ID:                hCV18113
SNP Position Transcript:      1100
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 342,(G,GGG) (R,AGG)



Context              (SEQ ID NO:1993):
TATTATGTGGGTCATTCTCAAGGCACCACTATAGGTTTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTGGGTC
Y
TGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTATTTGGAGACAAAGAATTTCTTCCC
Celera SNP ID:                hCV27531588
SNP Position Transcript:      681
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 202,(P,CCT) (L,CTT)



Context              (SEQ ID NO:1994):
TGCGACTCGAGACAGCGGCCCGGCAGGACAGCTCCAGACTGTTTTATTATACAGAATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGG
M
CCCTGCATTCTGAGGGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGA
Celera SNP ID:                hCV8870360
SNP Position Transcript:      122
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,126|C,58) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,664|
C,296)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 16,(T,ACC) (P,CCC)



Context              (SEQ ID NO:1995):
GTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGCAGAGGAAATACCTGGTCTCGGAAAC
V
TAAGACACTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGTTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTGAATAAA
Celera SNP ID:                hCV697014
SNP Position Transcript:      462
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 129,(H,CAT) (R,CGT)



Context              (SEQ ID NO:1996):
TGAAACAAACATGAATGTGAGTGAAATTATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATTCTGTGCCTTAAC
Y
GAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAA
Celera SNP ID:                hCV2334125
SNP Position Transcript:      269
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:371, 65,(*,TGA) (R,CGA)



Context              (SEQ ID NO:1997):
GAGACAGAAGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAGGTCCCAAACCAGTTGTCTTCCTGCAACATG
K
CTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCCAACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGC
Celera SNP ID:                hCV2334126
SNP Position Transcript:      336
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 87,(G,GGC) (V,GTC)



Context              (SEQ ID NO:1998):
ATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGTTTTCTTCTGTGT
K
GATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAGGC
Celera SNP ID:                hCV2334131
SNP Position Transcript:      872
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:371, 266,(*,TGA) (G,GGA)



Context              (SEQ ID NO:1999):
CTCTGTGGAAATCTCTGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATGTCTAGAGTGGATGTATATACAACACATTCTCCTGCTGGAACTT
S
TGTGCAAAACATGTTACACTGGAGCCAGGCTGTTAAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTACAACCAG
Celera SNP ID:                hCV2334132
SNP Position Transcript:      942
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 289,(C,TGT) (S,TCT)



Context              (SEQ ID NO:2000):
AAAATGTTTTTTGCCCTGGGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCAGATCATCTCATTAAGGACTTAT
Y
TGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTGAAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTCTGT
Celera SNP ID:                hCV16170687
SNP Position Transcript:      759
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:371, 228,(F,TTT) (S,TCT)



Context              (SEQ ID NO:2001):
GGGAGCATCTTGACTTCATTTGGGGCCTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTGAAAGCTGGACTTGAG
Y
TGTGTACCACCAAGTCAATGATTATGTCATGTGAAAATGTGTTTGCTTCATTTCTGTAAAACACTTGTTTTTCTTTCCCAGGTCTTTTGTTTTTTTATAT
Celera SNP ID:                hCV31660485
SNP Position Transcript:      1291
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:371, None



Context              (SEQ ID NO:2002):
TGGTAAATCTGTCACTGACTTAAGCGAGGTATAAAAGTACGCAGTTTTCATGTCCTTGCCTTAAAGAGCTCTCTAGTCTAACGGTCTTGTAGTTAGAGAT
Y
TAAATGACATTTTATCATGTTTTCCTGCAGCAGGTGCATAGTCAAATCCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTATC
Celera SNP ID:                hCV31660486
SNP Position Transcript:      1753
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:371, None



Context              (SEQ ID NO:2003):
CAGGTGCATAGTCAAATCCAGAAATATCACAGCTGTGCCAGTAATAAGGATGCTAACAATTAATTTTATCAAACCTAACTGTGACAGCTGTGATTTGACA
Y
GTTTTAATTGCTCAGGTTAAATGAAATAGTTTTCCGGCGTCTTCAAAAACAAATTGCACTGATAAAACAAAAACAAAAGTATGTTTTAAATGCTTTGAAG
Celera SNP ID:                hCV30283830
SNP Position Transcript:      1884
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:371, None



Context              (SEQ ID NO:2004):
ATTTTTTCTGAGATTAATGTACTCTTGGAGCCCGCTACTGTCGTTATTGATCACATCTGTGTGAAGCCAAAGCCCCGTGGTTGCCCATGAGAAGTGTCCT
W
GTTCATTTTCACCCAAATGAAGTGTGAACGTGATGTTTTCGGATGCAAACTCAGCTCAGGGATTCATTTTGTGTCTTAGTTTTATATGCATCCTTATTTT
Celera SNP ID:                hCV8870387
SNP Position Transcript:      2185
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,86|A,6) ; no_pop(T,1|A,1) ; no_pop(T,-|A,-) ; no_pop(T,604|A,
108)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:371, None



Context              (SEQ ID NO:2005):
ATATGCATCCTTATTTTTAATACACCTGCTTCACGTCCCTATGTTGGGAAGTCCATATTTGTCTGCTTTTCTTGCAGCATCATTTCCTTACAATACTGTC
Y
GGTGGACAAAATGACAATTGATATGTTTTTCTGATATAATTACTTTAGCTGCACTAACAGTACAATGCTTGTTAATGGTTAATATAGGCAGGGCGAATAC
Celera SNP ID:                hCV11743295
SNP Position Transcript:      2369
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,85|T,7) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-) ; no_pop(C,111|T,
9)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:371, None



Gene Number:                  49
Celera Gene:                  hCG2016586 - 209000073859476
Celera Transcript:            hCT2309552 - 209000073859477
Public Transcript Accession:  NM_004923
Celera Protein:               hCP1901812 - 209000073859516
Public Protein Accession:     NP_004914
Gene Symbol:                  MTL5
Protein Name:                  metallothionein-like 5, testis-specific (tesmin)
Celera Genomic Axis:          GA_x5YUV32VYAU(14153601..14209517)
Chromosome:                   11
OMIM NUMBER:                  604374
OMIM Information:


Transcript Sequence  (SEQ ID NO:111):
TTTCCCCACCTGAGCCTGGATCGGCTGAACCTGGGAGTGCCTCCCCTGACCCGCTCTGGCAACAGCGGCAGTCCAGGCCCCGCCCCTCGCGACTCTGTCT
CCTCCCGCCCCAGACCACGCCCACCACACCTCCCTGGCCCCGCCTTTACCTCCCCGCCCCGACCTCGACTCCGCCCCACGCCCAGGCCCCGCCCACTGCC
CGGGCGCCTCTTCCCCTCCCCCCAGGTTCCTGTCCCTCACCCTTCCCCCTTCTCCAACCGCCAACGGCCGCATGCGCATGAGGCCCGGCCCACGCCCCAT
CCCGCTCGATCCACGATGCGGCAGCCCCGGCGGCCCCAGGTGCGCGGCCCCCGCCATCCCGCCCCGCCGCCCTGCGCCATGGAGGAGGGCCCTCTGCCGG
GCGGGCTGCCCAGCCCCGAGGATGCGATGGTGACGGAGCTCTTAAGCCCCGAGGGTCCGTTCGCTTCGGAGAACATCGGCCTGAAGGCCCCCGTGAAGTA
CGAGGAGGACGAGTTCCACGTCTTCAAAGAAGCGTACCTGGGCCCGGCGGACCCCAAGGAACCCGTCCTGCACGCGTTCAACCCCGCGCTGGGCGCCGAC
TGCAAGGGCCAGGTCAAGGCGAAGCTCGCGGGGGGCGACAGCGACGGCGGGGAGCTCCTCGGGGAGTACCCCGGGATCCCAGAGCTCAGCGCGCTGGAGG
ACGTCGCGCTCCTGCAGGCCCCGCAGCCGCCCGCCTGCAACGTGCACTTCCTGTCCTCGCTGCTACCCGCGCACCGCAGCCCGGCGGTGTTGCCCCTGGG
CGCCTGGGTCCTGGAAGGAGCCTCCCACCCGGGCGTCCGCATGATCCCAGTTGAAATCAAGGAAGCAGGTGGTACTACTACAAGTAATAATCCGGAAGAA
GCAACTTTGCAGAATCTTCTTGCTCAGGAATCCTGTTGCAAGTTCCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCA
ACCCAATGGTGATATGCCAATTGAAAGGGGGCACACAAATGCTATGTATAGACAATTCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTA
TCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAAACCAATGACTGCTTTAGTAGGGAGATTTTTGCCAGCATCAACAAAATTAAATCTCATTACA
CAACAACTTGAGGGAGCCTTACCATCGGTAGTCAACGGGTCTGCTTTCCCCTCGGGATCAACTCTTCCAGGACCACCAAAAATAACTTTGGCTGGGTACT
GTGACTGCTTTGCCAGTGGGGACTTTTGCAACAACTGCAATTGTAATAATTGTTGCAACAACTTGCATCATGATATTGAACGGTTTAAAGCCATTAAGGC
ATGTCTTGGTAGAAATCCAGAAGCTTTCCAGCCAAAAATTGGGAAGGGCCAATTGGGCAATGTCAAGCCCCAGCACAACAAAGGGTGCAACTGCAGGAGG
TCAGGCTGCCTGAAGAATTACTGCGAGTGCTATGAGGCCCAAATTATGTGTTCTTCTATTTGCAAATGCATTGGTTGCAAAAATTATGAAGAAAGCCCAG
AACGAAAGACACTAATGAGCATGCCAAACTACATGCAGACTGGAGGTTTGGAAGGCAGCCATTACCTGCCACCAACGAAATTTTCAGGACTTCCAAGATT
CAGTCACGATAGGCGGCCTTCCTCATGCATCTCCTGGGAGGTGGTGGAGGCCACATGCGCCTGCCTGCTTGCTCAGGGAGAAGAGGCCGAGAAAGAACAC
TGCTCCAAGTGCCTGGCAGAGCAGATGATCCTGGAGGAATTTGGAAGGTGCTTATCACAGATTCTCCACACTGAGTTTAAATCTAAGGGATTGAAAATGG
AGTAGAGTATAAAGTGTGAATGCATGTTGATTTTGTCTTAGTCTAGAAATCTCTAGTTTAGAAAGGATGTTTAGGGGAACATGAGGCTGGCTCTGCAGCA
ACAACCAGGCTCCCCTGCATCCCTGGGCCCAGGGAGTTTACTCAGAGCTCTCTGAAGATGTGGCAACCCATGCCCCCTTTTCTGAGGAGGTGCATGGCCT
GAGCATTGTTTGTCTGGCCCAGAGGAGAGAGCTTGGGTTCCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGGCA
CAGCAGGCCCTGCGAAGGGCAGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTGCGGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCT
GGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTATTTAGAAATAAGTTCTCCGGATGGGCTGTTGTGATACCACTTAAAAT
CTCTAGAGAACTACTGAACACCTAAAGATTTTCTGTAGCGTAGATATTTCCCCAGAGGCACGCGAACTGTCAGTCTTTCCTAAGGCCCCCGGGAGACGCA
GGCAATGGGGCCTCGCAGGCCAGGCTTGCACCAGCATGTCTTGAGTTAGAGGACTTAAAATTATCCAGTTTCTTCTGTGTTTCTACTTGAATTGTGGAAA
AGCTCTATTATCCAATTAACTTCTCCATAATTATTGTTGTAATATTATTATTGTTTGTAAAACATGGTTCACATAACTAGCTTGTGGAAACCAGCAGGTA
AAATGAATTCTTAAGTTGACGCTTTTGGTTCTGTTGTAAAGCAAAGATGAATAAAAATTTCCAATGTCTTCAA


Protein Sequence     (SEQ ID NO:372):
MRQPRRPQVRGPRHPAPPPCAMEEGPLPGGLPSPEDAMVTELLSPEGPFASENIGLKAPVKYEEDEFHVFKEAYLGPADPKEPVLHAFNPALGADCKGQV
KAKLAGGDSDGGELLGEYPGIPELSALEDVALLQAPQPPACNVHFLSSLLPAHRSPAVLPLGAWVLEGASHPGVRMIPVEIKEAGGTTTSNNPEEATLQN
LLAQESCCKFPSSQELEDASCCSLKKDSNPMVICQLKGGTQMLCIDNSRTRELKALHLVPQYQDQNNYLQSDVPKPMTALVGRFLPASTKLNLITQQLEG
ALPSVVNGSAFPSGSTLPGPPKITLAGYCDCFASGDFCNNCNCNNCCNNLHHDIERFKAIKACLGRNPEAFQPKIGKGQLGNVKPQHNKGCNCRRSGCLK
NYCECYEAQIMCSSICKCIGCKNYEESPERKTLMSMPNYMQTGGLEGSHYLPPTKFSGLPRFSHDRRPSSCISWEVVEATCACLLAQGEEAEKEHCSKCL
AEQMILEEFGRCLSQILHTEFKSKGLKME*



SNP Information


Context              (SEQ ID NO:2006):
TCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTATCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAAACCAATGACTGCTTTAG
Y
AGGGAGATTTTTGCCAGCATCAACAAAATTAAATCTCATTACACAACAACTTGAGGGAGCCTTACCATCGGTAGTCAACGGGTCTGCTTTCCCCTCGGGA
Celera SNP ID:                hCV25606383
SNP Position Transcript:      1157
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:372, 281,(V,GTA) (A,GCA)



Context              (SEQ ID NO:2007):
CCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCAACCCAATGGTGATATGCCAATTGAAAGGGGGCACACAAATGCTA
Y
GTATAGACAATTCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTATCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAAACCAAT
Celera SNP ID:                hCV30689658
SNP Position Transcript:      1045
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:372, 244,(C,TGT) (R,CGT)



Context              (SEQ ID NO:2008):
AGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGGCACAGCAGGCCCTGCGAAGGGCAGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTG
Y
GGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCTGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTAT
Celera SNP ID:                hCV28958665
SNP Position Transcript:      2254
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:372, None



Gene Number:                  49
Celera Gene:                  hCG2016586 - 209000073859476
Celera Transcript:            hCT2309556 - 209000073859503
Public Transcript Accession:  NM_004923
Celera Protein:               hCP1901806 - 209000073859487
Public Protein Accession:     NP_004914
Gene Symbol:                  MTL5
Protein Name:                  metallothionein-like 5, testis-specific (tesmin)
Celera Genomic Axis:          GA_x5YUV32VYAU(14153601..14209517)
Chromosome:                   11
OMIM NUMBER:                  604374
OMIM Information:


Transcript Sequence  (SEQ ID NO:112):
GTGCGCGGCCCCCGCCATCCCGCCCCGCCGCCCTGCGCCATGGAGGAGGGCCCTCTGCCGGGCGGGCTGCCCAGCCCCGAGGATGCGATGGTGACGGAGC
TCTTAAGCCCCGAGGGTCCGTTCGCTTCGGAGAACATCGGCCTGAAGGCCCCCGTGAAGTACGAGGAGGACGAGTTCCACGTCTTCAAAGAAGCGTACCT
GGGCCCGGCGGACCCCAAGGAACCCGTCCTGCACGCGTTCAACCCCGCGCTGGGCGCCGACTGCAAGGGCCAGGTCAAGGCGAAGCTCGCGGGGGGCGAC
AGCGACGGCGGGGAGCTCCTCGGGGAGTACCCCGGGATCCCAGAGCTCAGCGCGCTGGAGGACGTCGCGCTCCTGCAGGCCCCGCAGCCGCCCGCCTGCA
ACGTGCACTTCCTGTCCTCGCTGCTACCCGCGCACCGCAGCCCGGCGGTGTTGCCCCTGGGCGCCTGGGTCCTGGAAGGAGCCTCCCACCCGGGCGTCCG
CATGATCCCAGTTGAAATCAAGGAAGCAGGTGGTACTACTACAAGTAATAATCCGGAAGAAGCAACTTTGCAGAATCTTCTTGCTCAGGAATCCTGTTGC
AAGTTCCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCAACCCAATGGTGATATGCCAATTGAAAGGGGGCACACAAA
TGCTATGTATAGACAATTCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTATCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAA
ACCAATGACTGCTTTAGTAGGGAGATTTTTGCCAGCATCAACAAAATTAAATCTCATTACACAACAACTTGAGGGAGCCTTACCATCGGTAGTCAACGGG
TCTGCTTTCCCCTCGGGATCAACTCTTCCAGGACCACCAAAAATAACTTTGGCTGGGTACTGTGACTGCTTTGCCAGTGGGGACTTTTGCAACAACTGCA
ATTGTAATAATTGTTGCAACAACTTGCATCATGATATTGAACGGTTTAAAGCCATTAAGGCATGTCTTGGTAGAAATCCAGAAGCTTTCCAGCCAAAAAT
TGGGAAGGGCCAATTGGGCAATGTCAAGCCCCAGCACAACAAAGGGTGCAACTGCAGGAGGTCAGGCTGCCTGAAGAATTACTGCGAGTGCTATGAGGCC
CAAATTATGTGTTCTTCTATTTGCAAATGCATTGGTTGCAAAAATTATGAAGAAAGCCCAGAACGAAAGACACTAATGAGCATGCCAAACTACATGCAGA
CTGGAGGTTTGGAAGGCAGCCATTACCTGCCACCAACGAAATTTTCAGGACTTCCAAGATTCAGTCACGATAGGCGGCCTTCCTCATGCATCTCCTGGGA
GGTGGTGGAGGCCACATGCGCCTGCCTGCTTGCTCAGGGAGAAGAGGCCGAGAAAGAACACTGCTCCAAGTGCCTGGCAGAGCAGATGATCCTGGAGGAA
TTTGGAAGGTGCTTATCACAGATTCTCCACACTGAGTTTAAATCTAAGGGATTGAAAATGGAGTAGAGTATAAAGTGTGAATGCATGTTGATTTTGTCTT
AGTCTAGAAATCTCTAGTTTAGAAAGGATGTTTAGGGGAACATGAGGCTGGCTCTGCAGCAACAACCAGGCTCCCCTGCATCCCTGGGCCCAGGGAGTTT
ACTCAGAGCTCTCTGAAGATGTGGCAACCCATGCCCCCTTTTCTGAGGAGGTGCATGGCCTGAGCATTGTTTGTCTGGCCCAGAGGAGAGAGCTTGGGTT
CCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAAGCAGGCCCTGCGGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTC
TGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTATTTAGAAATAAGTTCTCCGGATGGGCTGTTGTGATACCACTTAAAA
TCTCTAGAGAACTACTGAACACCTAAAGATTTTCTGTAGCGTAGATATTTCCCCAGAGGCACGCGAACTGTCAGTCTTTCCTAAGGCCCCCGGGAGACGC
AGGCAATGGGGCCTCGCAGGCCAGGCTTGCACCAGCATGTCTTGAGTTAGAGGACTTAAAATTATCCAGTTTCTTCTGTGTTTCTACTTGAATTGTGGAA
AAGCTCTATTATCCAATTAACTTCTCCATAATTATTGTTGTAATATTATTATTGTTTGTAAAACATGGTTCACATAACTAGCTTGTGGAAACCAGCAGGT
AAAATGAATTCTTAAGTTGACGCTTTTGGTTCTGTTGTAAAGCAAAGATGAATAAAAATTTCCAATGTCTTC


Protein Sequence     (SEQ ID NO:373):
MEEGPLPGGLPSPEDAMVTELLSPEGPFASENIGLKAPVKYEEDEFHVFKEAYLGPADPKEPVLHAFNPALGADCKGQVKAKLAGGDSDGGELLGEYPGI
PELSALEDVALLQAPQPPACNVHFLSSLLPAHRSPAVLPLGAWVLEGASHPGVRMIPVEIKEAGGTTTSNNPEEATLQNLLAQESCCKFPSSQELEDASC
CSLKKDSNPMVICQLKGGTQMLCIDNSRTRELKALHLVPQYQDQNNYLQSDVPKPMTALVGRFLPASTKLNLITQQLEGALPSVVNGSAFPSGSTLPGPP
KITLAGYCDCFASGDFCNNCNCNNCCNNLHHDIERFKAIKACLGRNPEAFQPKIGKGQLGNVKPQHNKGCNCRRSGCLKNYCECYEAQIMCSSICKCIGC
KNYEESPERKTLMSMPNYMQTGGLEGSHYLPPTKFSGLPRFSHDRRPSSCISWEVVEATCACLLAQGEEAEKEHCSKCLAEQMILEEFGRCLSQILHTEF
KSKGLKME*



SNP Information


Context              (SEQ ID NO:2009):
TCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTATCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAAACCAATGACTGCTTTAG
Y
AGGGAGATTTTTGCCAGCATCAACAAAATTAAATCTCATTACACAACAACTTGAGGGAGCCTTACCATCGGTAGTCAACGGGTCTGCTTTCCCCTCGGGA
Celera SNP ID:                hCV25606383
SNP Position Transcript:      818
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:373, 260,(V,GTA) (A,GCA)



Context              (SEQ ID NO:2010):
CCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCAACCCAATGGTGATATGCCAATTGAAAGGGGGCACACAAATGCTA
Y
GTATAGACAATTCTAGAACAAGAGAACTAAAAGCACTCCATTTGGTTCCTCAGTATCAAGATCAAAATAATTATCTACAGTCAGATGTCCCTAAACCAAT
Celera SNP ID:                hCV30689658
SNP Position Transcript:      706
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:373, 223,(C,TGT) (R,CGT)



Context              (SEQ ID NO:2011):
ATGGCCTGAGCATTGTTTGTCTGGCCCAGAGGAGAGAGCTTGGGTTCCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAAGCAGGCCCTG
Y
GGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCTGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTAT
Celera SNP ID:                hCV28958665
SNP Position Transcript:      1855
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:373, None



Gene Number:                  49
Celera Gene:                  hCG2016586 - 209000073859476
Celera Transcript:            hCT2309558 - 209000073859495
Public Transcript Accession:  NM_004923
Celera Protein:               hCP1901813 - 209000073859490
Public Protein Accession:     NP_004914
Gene Symbol:                  MTL5
Protein Name:                  metallothionein-like 5, testis-specific (tesmin)
Celera Genomic Axis:          GA_x5YUV32VYAU(14153601..14209517)
Chromosome:                   11
OMIM NUMBER:                  604374
OMIM Information:


Transcript Sequence  (SEQ ID NO:113):
TTTCCCCACCTGAGCCTGGATCGGCTGAACCTGGGAGTGCCTCCCCTGACCCGCTCTGGCAACAGCGGCAGTCCAGGCCCCGCCCCTCGCGACTCTGTCT
CCTCCCGCCCCAGACCACGCCCACCACACCTCCCTGGCCCCGCCTTTACCTCCCCGCCCCGACCTCGACTCCGCCCCACGCCCAGGCCCCGCCCACTGCC
CGGGCGCCTCTTCCCCTCCCCCCAGGTTCCTGTCCCTCACCCTTCCCCCTTCTCCAACCGCCAACGGCCGCATGCGCATGAGGCCCGGCCCACGCCCCAT
CCCGCTCGATCCACGATGCGGCAGCCCCGGCGGCCCCAGGTGCGCGGCCCCCGCCATCCCGCCCCGCCGCCCTGCGCCATGGAGGAGGGCCCTCTGCCGG
GCGGGCTGCCCAGCCCCGAGGATGCGATGGTGACGGAGCTCTTAAGCCCCGAGGGTCCGTTCGCTTCGGAGAACATCGGCCTGAAGGCCCCCGTGAAGTA
CGAGGAGGACGAGTTCCACGTCTTCAAAGAAGCGTACCTGGGCCCGGCGGACCCCAAGGAACCCGTCCTGCACGCGTTCAACCCCGCGCTGGGCGCCGAC
TGCAAGGGCCAGGTCAAGGCGAAGCTCGCGGGGGGCGACAGCGACGGCGGGGAGCTCCTCGGGGAGTACCCCGGGATCCCAGAGCTCAGCGCGCTGGAGG
ACGTCGCGCTCCTGCAGGCCCCGCAGCCGCCCGCCTGCAACGTGCACTTCCTGTCCTCGCTGCTACCCGCGCACCGCAGCCCGGCGGTGTTGCCCCTGGG
CGCCTGGGTCCTGGAAGGAGCCTCCCACCCGGGCGTCCGCATGATCCCAGTTGAAATCAAGGAAGCAGGTGGTACTACTACAAGTAATAATCCGGAAGAA
GCAACTTTGCAGAATCTTCTTGCTCAGGAATCCTGTTGCAAGTTCCCATCGTCCCAGGAACTAGAGGATGCCTCCTGCTGTTCTCTTAAGAAAGATTCCA
ACCCAATGCTTGAGGGAGCCTTACCATCGGTAGTCAACGGGTCTGCTTTCCCCTCGGGATCAACTCTTCCAGGACCACCAAAAATAACTTTGGCTGGGTA
CTGTGACTGCTTTGCCAGTGGGGACTTTTGCAACAACTGCAATTGTAATAATTGTTGCAACAACTTGCATCATGATATTGAACGGTTTAAAGCCATTAAG
GCATGTCTTGGTAGAAATCCAGAAGCTTTCCAGCCAAAAATTGGGAAGGGCCAATTGGGCAATGTCAAGCCCCAGCACAACAAAGGGTGCAACTGCAGGA
GGTCAGGCTGCCTGAAGAATTACTGCGAGTGCTATGAGGCCCAAATTATGTGTTCTTCTATTTGCAAATGCATTGGTTGCAAAAATTATGAAGAAAGCCC
AGAACGAAAGACACTAATGAGCATGCCAAACTACATGCAGACTGGAGGTTTGGAAGGCAGCCATTACCTGCCACCAACGAAATTTTCAGGACTTCCAAGA
TTCAGTCACGATAGGCGGCCTTCCTCATGCATCTCCTGGGAGGTGGTGGAGGCCACATGCGCCTGCCTGCTTGCTCAGGGAGAAGAGGCCGAGAAAGAAC
ACTGCTCCAAGTGCCTGGCAGAGCAGATGATCCTGGAGGAATTTGGAAGGTGCTTATCACAGATTCTCCACACTGAGTTTAAATCTAAGGGATTGAAAAT
GGAGTAGAGTATAAAGTGTGAATGCATGTTGATTTTGTCTTAGTCTAGAAATCTCTAGTTTAGAAAGGATGTTTAGGGGAACATGAGGCTGGCTCTGCAG
CAACAACCAGGCTCCCCTGCATCCCTGGGCCCAGGGAGTTTACTCAGAGCTCTCTGAAGATGTGGCAACCCATGCCCCCTTTTCTGAGGAGGTGCATGGC
CTGAGCATTGTTTGTCTGGCCCAGAGGAGAGAGCTTGGGTTCCCATAGTCCTGGGAGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGG
CACAGCAGGCCCTGCGAAGGGCAGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTGCGGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCT
CTGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTATTTAGAAATAAGTTCTCCGGATGGGCTGTTGTGATACCACTTAAA
ATCTCTAGAGAACTACTGAACACCTAAAGATTTTCTGTAGCGTAGATATTTCCCCAGAGGCACGCGAACTGTCAGTCTTTCCTAAGGCCCCCGGGAGACG
CAGGCAATGGGGCCTCGCAGGCCAGGCTTGCACCAGCATGTCTTGAGTTAGAGGACTTAAAATTATCCAGTTTCTTCTGTGTTTCTACTTGAATTGTGGA
AAAGCTCTATTATCCAATTAACTTCTCCATAATTATTGTTGTAATATTATTATTGTTTGTAAAACATGGTTCACATAACTAGCTTGTGGAAACCAGCAGG
TAAAATGAATTCTTAAGTTGACGCTTTTGGTTCTGTTGTAAAGCAAAGATGAATAAAAATTTCCAATGTCTTCAA


Protein Sequence     (SEQ ID NO:374):
MRQPRRPQVRGPRHPAPPPCAMEEGPLPGGLPSPEDAMVTELLSPEGPFASENIGLKAPVKYEEDEFHVFKEAYLGPADPKEPVLHAFNPALGADCKGQV
KAKLAGGDSDGGELLGEYPGIPELSALEDVALLQAPQPPACNVHFLSSLLPAHRSPAVLPLGAWVLEGASHPGVRMIPVEIKEAGGTTTSNNPEEATLQN
LLAQESCCKFPSSQELEDASCCSLKKDSNPMLEGALPSVVNGSAFPSGSTLPGPPKITLAGYCDCFASGDFCNNCNCNNCCNNLHHDIERFKAIKACLGR
NPEAFQPKIGKGQLGNVKPQHNKGCNCRRSGCLKNYCECYEAQIMCSSICKCIGCKNYEESPERKTLMSMPNYMQTGGLEGSHYLPPTKFSGLPRFSHDR
RPSSCISWEVVEATCACLLAQGEEAEKEHCSKCLAEQMILEEFGRCLSQILHTEFKSKGLKME*



SNP Information


Context              (SEQ ID NO:2012):
AGAGTGTCTGCAGGGCGGCGGAGGGCAGAGCAGGGCAGGGGAGGGCACAGCAGGCCCTGCGAAGGGCAGAGCGGGGCAGGGGAGGGCAGAGCAGGCCCTG
Y
GGAGAGCTCACTCTGGTCGACTCTTCCTCTCAGAGAATGTTGCTCTGGAGGCTGCTCTGCATGAAAACCCTAATGGTTTCTTGTTTGTTTTTCAAATTAT
Celera SNP ID:                hCV28958665
SNP Position Transcript:      2056
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:374, None



Gene Number:                  50
Celera Gene:                  hCG27192 - 104000117137572
Celera Transcript:            hCT1686652 - 104000117137600
Public Transcript Accession:  NM_002335
Celera Protein:               hCP1690976 - 197000069465056
Public Protein Accession:     NP_002326
Gene Symbol:                  LRP5
Protein Name:                  low density lipoprotein receptor-related protein 5
Celera Genomic Axis:          GA_x5YUV32VYAU(13757051..13906097)
Chromosome:                   11
OMIM NUMBER:                  603506
OMIM Information:             Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density/
variability 1], 601884 (3); Osteopetrosis, autosomal dominant, type I, 607634 (3); Hyperostosis, end
osteal, 144750 (3); van Buchem disease, type 2, 607636/(3); {Osteoporosis}, 166710 (3); Exudative vi
treoretinopathy, dominant, 133780 (3); Exudative vitreoretinopathy, recessive, 601813 (3)



Transcript Sequence  (SEQ ID NO:114):
ATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGC
TGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGT
CAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAG
GAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGG
TGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGA
CCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGC
ACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCT
TCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTA
CTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATC
CAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTT
TCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGA
CCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAG
GGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACC
CCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAA
GATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATC
GAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCT
ACTGGGGAGACGCCAAGACAGACAAGATCGAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTCGGGTT
CACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAG
CTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCT
TCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAG
CAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTG
TCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTG
ACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTT
CCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGCTACATCTACTGGACCGAGTGGGGCGGCAAGCCG
AGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTGGACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCC
TCTACTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCT
GACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGC
CACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCC
TTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCCGCCCACCACCTTCTTGCTGTTCAG
CCAGAAATCTGCCATCAGTCGGATGATCCCGGACGACCAGCACAGCCCGGATCTCATCCTGCCCCTGCATGGACTGAGGAACGTCAAAGCCATCGACTAT
GACCCACTGGACAAGTTCATCTACTGGGTGGATGGGCGCCAGAACATCAAGCGAGCCAAGGACGACGGGACCCAGGCAGTGCTCAGGAGTCTTGGTTTCT
TTGTCTTACAGCCCTTTGTTTTGACCTCTCTGAGCCAAGGCCAAAACCCAGACAGGCAGCCCCACGACCTCAGCATCGACATCTACAGCCGGACACTGTT
CTGGACGTGCGAGGCCACCAATACCATCAACGTCCACAGGCTGAGCGGGGAAGCCATGGGGGTGGTGCTGCGTGGGGACCGCGACAAGCCCAGGGCCATC
GTCGTCAACGCGGAGCGAGGGTACCTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCC
TCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTG
TGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGACGCCAACATCGTGCAGCCTCTGGGCCTGACCATCCTTGGCAAGCATCTCTACTGGATCGACCGC
CAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCATCCATGCAGTGGAGG
AAGTCAGCCTGGAGGAGTTCTCAGCCCACCCATGTGCCCGTGACAATGGTGGCTGCTCCCACATCTGTATTGCCAAGGGTGATGGGACACCACGGTGCTC
ATGCCCAGTCCACCTCGTGCTCCTGCAGAACCTGCTGACCTGTGGAGAGCCGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGAC
TGTATCCCCGGGGCCTGGCGCTGTGACGGCTTTCCCGAGTGCGATGACCAGAGCGACGAGGAGGGCTGCCCCGTGTGCTCCGCCGCCCAGTTCCCCTGCG
CGCGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGGCGGACTGTGACGCCATCTGCCTGCCCAA
CCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGAAATC
ACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTG
TGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGC
CCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTC
TACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCA
CGGACCCCTCCCTGTACAACATGGACATGTTCTACTCTTCAAACATTCCGGCCACTGCGAGACCGTACAGGCCCTACATCATTCGAGGAATGGCGCCCCC
GACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCC
TATCCACCCCCACCCACGCCCCACAGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGC
CCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTCGGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAA
TATATTTTATGATTTAAAAAATAAATATAATTGGGATTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGT
GGAGAAATATTTATAAACTTAATTTTGTAAAACAG


Protein Sequence     (SEQ ID NO:375):
MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQ
NVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGL
TIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRA
YLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNA
SLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTIS
RAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLV
DKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNI
KRAKDDGTQAVLRSLGFFVLQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQD
RAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKR
TRIQGRVAHLTGIHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIPGAWRCDGFPECDD
QSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIG
PVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSS
TKATLYPPILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAED
SCPPSPATERSYFHLFPPPPSPCTDSS*



SNP Information


Context              (SEQ ID NO:2013):
TCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTT
Y
GATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTG
Celera SNP ID:                hCV25755534
SNP Position Transcript:      2094
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,33)  total(C,1|T,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 682,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2014):
GCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAA
Y
AGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGCT
Celera SNP ID:                hCV16194976
SNP Position Transcript:      2268
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2208|T,764) ; no_pop(C,-|T,-) ; no_pop(C,840|T,228) ; no_pop(
C,202|T,30)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 740,(N,AAC) (N,AAT)



Context              (SEQ ID NO:2015):
CCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTGTGCCAACTTGGATGGGCAGGAGC
R
GCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCTACTGGGGAGACGCCAAGACAGACAAGATC
Celera SNP ID:                hCV27860162
SNP Position Transcript:      1529
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 494,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2016):
TGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATC
Y
TGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTG
Celera SNP ID:                hCV31728280
SNP Position Transcript:      1405
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 453,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2017):
AGCTCTACTGGGGAGACGCCAAGACAGACAAGATCGAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTT
Y
GGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTG
Celera SNP ID:                hCV780082
SNP Position Transcript:      1695
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2908|T,92) ; no_pop(C,-|T,-) ; no_pop(C,548|T,148) ; no_pop(C
,218|T,18)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 549,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2018):
TGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGT
R
GACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGACGCCA
Celera SNP ID:                hCV780057
SNP Position Transcript:      3441
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,404|A,300) ; no_pop(G,56|
A,176)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1131,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2019):
TCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGA
Y
ACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATC
Celera SNP ID:                hCV25604938
SNP Position Transcript:      2256
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,26|T,0)  total(C,59|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 736,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2020):
CGACCGCCAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCATCCATGCA
S
TGGAGGAAGTCAGCCTGGAGGAGTTCTCAGCCCACCCATGTGCCCGTGACAATGGTGGCTGCTCCCACATCTGTATTGCCAAGGGTGATGGGACACCACG
Celera SNP ID:                hCV31728310
SNP Position Transcript:      3694
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 1216,(V,GTG) (L,CTG)



Context              (SEQ ID NO:2021):
TCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTC
Y
GTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGT
Celera SNP ID:                hCV31728325
SNP Position Transcript:      4464
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1472,(S,TCC) (S,TCT)



Context              (SEQ ID NO:2022):
ACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCACGGACCCCTCCCTGTACAACATGGACATGTTCTACTCTTCAAACATTCCGGCCACTG
Y
GAGACCGTACAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAG
Celera SNP ID:                hCV8761786
SNP Position Transcript:      4658
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 1537,(A,GCG) (V,GTG)



Context              (SEQ ID NO:2023):
CAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCA
Y
GTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGG
Celera SNP ID:                hCV25604949
SNP Position Transcript:      2181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,0)  african american(C,26|T,2)  total(C,56|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 711,(H,CAC) (H,CAT)



Context              (SEQ ID NO:2024):
ATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGT
R
GCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTA
Celera SNP ID:                hCV27860160
SNP Position Transcript:      77
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:375, 10,(W,TGG) (*,TAG)



Context              (SEQ ID NO:2025):
CTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACG
Y
AGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCT
Celera SNP ID:                hCV27860164
SNP Position Transcript:      2605
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:375, 853,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2026):
AGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCA
Y
GTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCACGGACCCCTCCCTGT
Celera SNP ID:                hCV31728326
SNP Position Transcript:      4515
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1489,(H,CAC) (H,CAT)



Context              (SEQ ID NO:2027):
TGCAGGACAACGGCAGGACGTGTAAGGCAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTT
Y
ACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGG
Celera SNP ID:                hCV8761592
SNP Position Transcript:      1134
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 362,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2028):
GGTGCAGCCACCTGTGCTTCTTCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGA
R
GCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCT
Celera SNP ID:                hCV15883914
SNP Position Transcript:      1980
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2878|A,114) ; no_pop(G,-|A,-) ; no_pop(G,230|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 644,(E,GAG) (E,GAA)



Context              (SEQ ID NO:2029):
GTATCCCCGGGGCCTGGCGCTGTGACGGCTTTCCCGAGTGCGATGACCAGAGCGACGAGGAGGGCTGCCCCGTGTGCTCCGCCGCCCAGTTCCCCTGCGC
R
CGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGGCGGACTGTGACGCCATCTGCCTGCCCAACC
Celera SNP ID:                hCV25752054
SNP Position Transcript:      4002
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,32)  total(A,2|G,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1318,(A,GCG) (A,GCA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1318,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2030):
GTGTGCTCCGCCGCCCAGTTCCCCTGCGCGCGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGG
Y
GGACTGTGACGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGAC
Celera SNP ID:                hCV25752205
SNP Position Transcript:      4073
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,818|C,2178) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,28
|C,208)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 1342,(A,GCG) (V,GTG)



Context              (SEQ ID NO:2031):
GAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTCGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAG
Y
GGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGAACCAA
Celera SNP ID:                hCV27860163
SNP Position Transcript:      1756
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 570,(R,CGG) (W,TGG)



Context              (SEQ ID NO:2032):
GAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGT
S
TCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCC
Celera SNP ID:                hCV31728402
SNP Position Transcript:      372
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 108,(V,GTC) (V,GTG)



Context              (SEQ ID NO:2033):
GCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGAC
R
TGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAG
Celera SNP ID:                hCV25604912
SNP Position Transcript:      2047
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,38)  african american(A,1|G,35)  total(A,3|G,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 667,(V,GTG) (M,ATG)

SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 667,(V,GTG) (M,ATG)



Context              (SEQ ID NO:2034):
GCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGGGTACCTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGA
Y
GGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACC
Celera SNP ID:                hCV25604925
SNP Position Transcript:      3381
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,17|T,5)  total(C,56|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1111,(D,GAC) (D,GAT)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1111,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2035):
CGGACTGTGACGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGA
Y
GGCTCCGACGAGCTCATGTGTGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTC
Celera SNP ID:                hCV27473759
SNP Position Transcript:      4173
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1473|T,13) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:375, 1375,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2036):
GCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCC
Y
GAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCC
Celera SNP ID:                hCV27860161
SNP Position Transcript:      1330
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:375, 428,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2037):
GCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTG
R
GCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCC
Celera SNP ID:                hCV32370364
SNP Position Transcript:      2250
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:375, 734,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2038):
GCGCATTGAGAGCTGTGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGACGCCAACATCGTGCAGCCTCTGGGCCTGACCATCCTTGGCAAGCATCTC
Y
ACTGGATCGACCGCCAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCAT
Celera SNP ID:                hCV32370365
SNP Position Transcript:      3586
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 1180,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:2039):
GTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCC
K
ACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGT
Celera SNP ID:                hCV32370373
SNP Position Transcript:      379
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 111,(D,GAC) (Y,TAC)



Context              (SEQ ID NO:2040):
GATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGAC
R
CCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGG
Celera SNP ID:                hCV32370374
SNP Position Transcript:      688
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 214,(A,GCC) (T,ACC)



Context              (SEQ ID NO:2041):
ATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACG
Y
CAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGG
Celera SNP ID:                hCV32370375
SNP Position Transcript:      689
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 214,(A,GCC) (V,GTC)



Context              (SEQ ID NO:2042):
CACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGA
Y
AGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTG
Celera SNP ID:                hCV32370376
SNP Position Transcript:      806
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:375, 253,(I,ATA) (T,ACA)



Gene Number:                  50
Celera Gene:                  hCG27192 - 104000117137572
Celera Transcript:            hCT2310467 - 104000117137573
Public Transcript Accession:  NM_002335
Celera Protein:               hCP1901791 - 197000069465055
Public Protein Accession:     NP_002326
Gene Symbol:                  LRP5
Protein Name:                  low density lipoprotein receptor-related protein 5
Celera Genomic Axis:          GA_x5YUV32VYAU(13757051..13906097)
Chromosome:                   11
OMIM NUMBER:                  603506
OMIM Information:             Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density/
variability 1], 601884 (3); Osteopetrosis, autosomal dominant, type I, 607634 (3); Hyperostosis, end
osteal, 144750 (3); van Buchem disease, type 2, 607636/(3); {Osteoporosis}, 166710 (3); Exudative vi
treoretinopathy, dominant, 133780 (3); Exudative vitreoretinopathy, recessive, 601813 (3)



Transcript Sequence  (SEQ ID NO:115):
ATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGC
TGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGT
CAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAG
GAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGG
TGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGA
CCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGGATGGATGGCAGC
ACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCT
TCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTA
CTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATC
CAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTT
TCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGA
CCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAG
GGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACC
CCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAA
GATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATC
GAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCT
ACTGGGGAGACGCCAAGACAGACAAGATCGAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTCGGGTT
CACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAG
CTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCT
TCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAG
CAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTG
TCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTG
ACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTT
CCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGCTACATCTACTGGACCGAGTGGGGCGGCAAGCCG
AGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTGGACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCC
TCTACTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCT
GACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGC
CACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCC
TTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCCGCCCACCACCTTCTTGCTGTTCAG
CCAGAAATCTGCCATCAGTCGGATGATCCCGGACGACCAGCACAGCCCGGATCTCATCCTGCCCCTGCATGGACTGAGGAACGTCAAAGCCATCGACTAT
GACCCACTGGACAAGTTCATCTACTGGGTGGATGGGCGCCAGAACATCAAGCGAGCCAAGGACGACGGGACCCAGCCCTTTGTTTTGACCTCTCTGAGCC
AAGGCCAAAACCCAGACAGGCAGCCCCACGACCTCAGCATCGACATCTACAGCCGGACACTGTTCTGGACGTGCGAGGCCACCAATACCATCAACGTCCA
CAGGCTGAGCGGGGAAGCCATGGGGGTGGTGCTGCGTGGGGACCGCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGGGTACCTGTACTTCACC
AACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGG
TGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGA
CGCCAACATCGTGCAGCCTCTGGGCCTGACCATCCTTGGCAAGCATCTCTACTGGATCGACCGCCAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACC
GGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCATCCATGCAGTGGAGGAAGTCAGCCTGGAGGAGTTCTCAGCCCACCCATGTG
CCCGTGACAATGGTGGCTGCTCCCACATCTGTATTGCCAAGGGTGATGGGACACCACGGTGCTCATGCCCAGTCCACCTCGTGCTCCTGCAGAACCTGCT
GACCTGTGGAGAGCCGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGTATCCCCGGGGCCTGGCGCTGTGACGGCTTTCCC
GAGTGCGATGACCAGAGCGACGAGGAGGGCTGCCCCGTGTGCTCCGCCGCCCAGTTCCCCTGCGCGCGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCG
ACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGGCGGACTGTGACGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCAT
CAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGC
AGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGG
CCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGCAT
CGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGC
AGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCACGGACCCCTCCCTGTACAACATGGACATGTTCTACT
CTTCAAACATTCCGGCCACTGCGAGACCGTACAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGA
CTACAGCGCCAGCCGCTGGAAGGCCAGCAAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCACAGCCAGTACCTG
TCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTACTTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGACCTC
GGCCGGGCCACTCTGGCTTCTCTGTGCCCCTGTAAATAGTTTTAAATATGAACAAAGAAAAAAATATATTTTATGATTTAAAAAATAAATATAATTGGGA
TTTTAAAAACATGAGAAATGTGAACTGTGATGGGGTGGGCAGGGCTGGGAGAACTTTGTACAGTGGAGAAATATTTATAAACTTAATTTTGTAAAACAG


Protein Sequence     (SEQ ID NO:376):
MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQ
NVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGL
TIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRA
YLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNA
SLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTIS
RAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLV
DKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNI
KRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDG
TEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTG
IHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSA
AQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIGPVIGIILSLFVM
GGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNP
PPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSY
FHLFPPPPSPCTDSS*



SNP Information


Context              (SEQ ID NO:2043):
TCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTT
Y
GATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTG
Celera SNP ID:                hCV25755534
SNP Position Transcript:      2094
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,38)  african american(C,1|T,33)  total(C,1|T,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 682,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2044):
GCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAA
Y
AGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGGCT
Celera SNP ID:                hCV16194976
SNP Position Transcript:      2268
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2208|T,764) ; no_pop(C,-|T,-) ; no_pop(C,840|T,228) ; no_pop(
C,202|T,30)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 740,(N,AAC) (N,AAT)



Context              (SEQ ID NO:2045):
CCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTGTGCCAACTTGGATGGGCAGGAGC
R
GCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCTACTGGGGAGACGCCAAGACAGACAAGATC
Celera SNP ID:                hCV27860162
SNP Position Transcript:      1529
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 494,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2046):
TGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATC
Y
TGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGCCTCATGTACTGGACAGACTGGGGAGAGAACCCTAAAATCGAGTG
Celera SNP ID:                hCV31728280
SNP Position Transcript:      1405
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 453,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2047):
AGCTCTACTGGGGAGACGCCAAGACAGACAAGATCGAGGTGATCAATGTTGATGGGACGAAGAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTT
Y
GGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTG
Celera SNP ID:                hCV780082
SNP Position Transcript:      1695
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2908|T,92) ; no_pop(C,-|T,-) ; no_pop(C,548|T,148) ; no_pop(C
,218|T,18)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 549,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2048):
TGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGT
R
GACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGACGCCA
Celera SNP ID:                hCV780057
SNP Position Transcript:      3405
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,404|A,300) ; no_pop(G,56|
A,176)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1119,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2049):
TCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGA
Y
ACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCCTGGATC
Celera SNP ID:                hCV25604938
SNP Position Transcript:      2256
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,26|T,0)  total(C,59|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 736,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2050):
CGACCGCCAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCATCCATGCA
S
TGGAGGAAGTCAGCCTGGAGGAGTTCTCAGCCCACCCATGTGCCCGTGACAATGGTGGCTGCTCCCACATCTGTATTGCCAAGGGTGATGGGACACCACG
Celera SNP ID:                hCV31728310
SNP Position Transcript:      3658
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 1204,(V,GTG) (L,CTG)



Context              (SEQ ID NO:2051):
TCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTC
Y
GTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGT
Celera SNP ID:                hCV31728325
SNP Position Transcript:      4428
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1460,(S,TCC) (S,TCT)



Context              (SEQ ID NO:2052):
ACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCACGGACCCCTCCCTGTACAACATGGACATGTTCTACTCTTCAAACATTCCGGCCACTG
Y
GAGACCGTACAGGCCCTACATCATTCGAGGAATGGCGCCCCCGACGACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAG
Celera SNP ID:                hCV8761786
SNP Position Transcript:      4622
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 1525,(A,GCG) (V,GTG)



Context              (SEQ ID NO:2053):
CAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAGCCGCGCCTTCATGAACGGGAGCTCGGTGGAGCA
Y
GTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAACAGAATCGAAGTGG
Celera SNP ID:                hCV25604949
SNP Position Transcript:      2181
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,0)  african american(C,26|T,2)  total(C,56|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 711,(H,CAC) (H,CAT)



Context              (SEQ ID NO:2054):
ATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGT
R
GCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTA
Celera SNP ID:                hCV27860160
SNP Position Transcript:      77
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:376, 10,(W,TGG) (*,TAG)



Context              (SEQ ID NO:2055):
CTGGACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACG
Y
AGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCT
Celera SNP ID:                hCV27860164
SNP Position Transcript:      2605
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:376, 853,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2056):
AGCATGGCCCCTTCACAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCA
Y
GTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGATCCTGAACCCGCCGCCCTCCCCGGCCACGGACCCCTCCCTGT
Celera SNP ID:                hCV31728326
SNP Position Transcript:      4479
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1477,(H,CAC) (H,CAT)



Context              (SEQ ID NO:2057):
TGCAGGACAACGGCAGGACGTGTAAGGCAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTT
Y
ACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGG
Celera SNP ID:                hCV8761592
SNP Position Transcript:      1134
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 362,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2058):
GGTGCAGCCACCTGTGCTTCTTCACACCCCACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGCATCGTGCCTGA
R
GCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCT
Celera SNP ID:                hCV15883914
SNP Position Transcript:      1980
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2878|A,114) ; no_pop(G,-|A,-) ; no_pop(G,230|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 644,(E,GAG) (E,GAA)



Context              (SEQ ID NO:2059):
GTATCCCCGGGGCCTGGCGCTGTGACGGCTTTCCCGAGTGCGATGACCAGAGCGACGAGGAGGGCTGCCCCGTGTGCTCCGCCGCCCAGTTCCCCTGCGC
R
CGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGGCGGACTGTGACGCCATCTGCCTGCCCAACC
Celera SNP ID:                hCV25752054
SNP Position Transcript:      3966
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,32)  total(A,2|G,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1306,(A,GCG) (A,GCA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1306,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2060):
GTGTGCTCCGCCGCCCAGTTCCCCTGCGCGCGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAGGCAGACTGTCAGGACCGCTCAGACGAGG
Y
GGACTGTGACGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGAC
Celera SNP ID:                hCV25752205
SNP Position Transcript:      4037
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,818|C,2178) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,28
|C,208)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 1330,(A,GCG) (V,GTG)



Context              (SEQ ID NO:2061):
GAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTCGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACTGGCAGCGCCGCAGCATCGAG
Y
GGGTGCACAAGGTCAAGGCCAGCCGGGACGTCATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTCGGAACCAA
Celera SNP ID:                hCV27860163
SNP Position Transcript:      1756
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 570,(R,CGG) (W,TGG)



Context              (SEQ ID NO:2062):
GAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGT
S
TCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCC
Celera SNP ID:                hCV31728402
SNP Position Transcript:      372
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 108,(V,GTC) (V,GTG)



Context              (SEQ ID NO:2063):
GCTGAGTGACATGAAGACCTGCATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTCGAGACCAATAACAACGAC
R
TGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTGGACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAGACCATCAG
Celera SNP ID:                hCV25604912
SNP Position Transcript:      2047
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,38)  african american(A,1|G,35)  total(A,3|G,73)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 667,(V,GTG) (M,ATG)

SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 667,(V,GTG) (M,ATG)



Context              (SEQ ID NO:2064):
GCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGGGTACCTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGA
Y
GGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACC
Celera SNP ID:                hCV25604925
SNP Position Transcript:      3345
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,17|T,5)  total(C,56|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1099,(D,GAC) (D,GAT)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1099,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2065):
CGGACTGTGACGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGA
Y
GGCTCCGACGAGCTCATGTGTGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTC
Celera SNP ID:                hCV27473759
SNP Position Transcript:      4137
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1473|T,13) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:376, 1363,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2066):
GCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCC
Y
GAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCC
Celera SNP ID:                hCV27860161
SNP Position Transcript:      1330
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:376, 428,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2067):
GCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCCGAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTG
R
GCCGACACTGGGACCAACAGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCC
Celera SNP ID:                hCV32370364
SNP Position Transcript:      2250
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:376, 734,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2068):
GCGCATTGAGAGCTGTGACCTGTCAGGGGCCAACCGCCTGACCCTGGAGGACGCCAACATCGTGCAGCCTCTGGGCCTGACCATCCTTGGCAAGCATCTC
Y
ACTGGATCGACCGCCAGCAGCAGATGATCGAGCGTGTGGAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGCAT
Celera SNP ID:                hCV32370365
SNP Position Transcript:      3550
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 1168,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:2069):
GTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCC
K
ACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGT
Celera SNP ID:                hCV32370373
SNP Position Transcript:      379
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 111,(D,GAC) (Y,TAC)



Context              (SEQ ID NO:2070):
GATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGAC
R
CCAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGG
Celera SNP ID:                hCV32370374
SNP Position Transcript:      688
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 214,(A,GCC) (T,ACC)



Context              (SEQ ID NO:2071):
ATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTGACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACG
Y
CAAGCTCAGCTTCATCCACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGG
Celera SNP ID:                hCV32370375
SNP Position Transcript:      689
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 214,(A,GCC) (V,GTC)



Context              (SEQ ID NO:2072):
CACCGTGCCAACCTGGACGGCTCGTTCCGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGA
Y
AGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTG
Celera SNP ID:                hCV32370376
SNP Position Transcript:      806
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:376, 253,(I,ATA) (T,ACA)



Gene Number:                  51
Celera Gene:                  hCG27399 - 146000220312482
Celera Transcript:            hCT18539 - 146000220312504
Public Transcript Accession:  NM_003266
Celera Protein:               hCP43686 - 197000064928737
Public Protein Accession:     NP_003257
Gene Symbol:                  TLR4
Protein Name:                  toll-like receptor 4
Celera Genomic Axis:          GA_x5YUV32W1V9(4596116..4621277)
Chromosome:                   9
OMIM NUMBER:                  603030
OMIM Information:             Endotoxin hyporesponsiveness (3)


Transcript Sequence  (SEQ ID NO:116):
CTGTGACAAAAGAGATAACTATTAGAGAAACAAAAGTCCAGAATGCTAAGGTTGCCGCTTTCACTTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATA
CACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACT
GCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGAC
CAGAAAGCTGGGAGCCCTGCGTGGAGGTGGTTCCTAATATTACTTATCAATGCATGGAGCTGAATTTCTACAAAATCCCCGACAACCTCCCCTTCTCAAC
CAAGAACCTGGACCTGAGCTTTAATCCCCTGAGGCATTTAGGCAGCTATAGCTTCTTCAGTTTCCCAGAACTGCAGGTGCTGGATTTATCCAGGTGTGAA
ATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTCTACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTT
CTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAA
TGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGT
ATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGTGCAT
TTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTTGTATTCAAGGTCTGGCTGGTTTAGAAGTCCA
TCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGA
TTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGG
TAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCT
TACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGT
TGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAAC
AACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCA
TACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCA
GATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTC
AGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACAT
AATGACTTCCAAAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGT
TTCCTGCAATGGATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTT
TGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAAGTTCTATTT
TCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGG
AATGAGCTAGTAAAGAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCA
TCCATGAAGGTTTCCATAAAAGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGAC
CTGGCAGTTTCTGAGCAGTCGTGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTC
AGCAGGAACACTTACCTGGAGTGGGAGGACAGTGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATC
CAGAAGGAACAGTGGGTACAGGATGCAATTGGCAGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTC
CAACACTTGTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAA
TCTCAAGGAGCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAA
AGAAAGTCATTTCAACTCTTACCTCATCAAGTTGAATAAAGACAGAGAAAACAGAAAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTAT
TATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCACTTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGAC
TGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTG
ATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCA
TTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAA
AAGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGG
GGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCA
CCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTT
GATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGC
AGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAAT
GGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACAGAACATTCAAGAAAAGGACAATCAGGATGTCATCAGGGAAAT
GAAAATAAAAACCACAATGAGATATCACCTTATACCAGGTAGAATGGCTACTATAAAAAAATGAAGTGTCATCAAGGATATAGAGAAATTGGAACCCTTC
TTCACTGCTGGAGGGAATGGAAAATGGTGTAGCCGTTATGAAAAACAGTACGGAGGTTTCTCAAAAATTAAAAATAGAACTGCTATATGATCCAGCAATC
TCACTTCTGTATATATACCCAAAATAATTGAAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCA
AAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGA
ATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATAT
GAGGTTCTAAAATAGTCAAACTCATAGAAGCAGAGAATAGAACAGTGGTTCCTAGGGAAAAGGAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAAT
TGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTCGTATAATGAACAATACTGTATTATGCACTTAACATTTT
GTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTGGAGGTGATGGATATATTTATTACCTTGATTGTGGTGA
TGGTTTGACAGGTATGTGACTATGTCTAAACTCATCAAATTGTATACATTAAATATATGCAGTTTTATAATATCAATTATGTCTGAATGAAGCTATAAAA
AAGAAAAGACAACAAAATTCAGTTGTCAAAACTGGAAATATGACCACAGTCAGAAGTGTTTGTTACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGT
CTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTGTGCATTTGTGCACATATCCCTATGTATCCCTATCAGG
GCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGT
CTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATC
TCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGA
GATTAA


Protein Sequence     (SEQ ID NO:377):
MMSASRLAGTLIPAMAFLSCVRPESWEPCVEVVPNITYQCMELNFYKIPDNLPFSTKNLDLSFNPLRHLGSYSFFSFPELQVLDLSRCEIQTIEDGAYQS
LSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLASLENFPIGHLKTLKELNVAHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQ
MPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDI
IDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTS
LKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTF
LDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQL
LVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGV
PPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDS
VLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI*



SNP Information


Context              (SEQ ID NO:2073):
TTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGC
R
AGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCAT
Celera SNP ID:                hCV2317680
SNP Position Transcript:      177
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2074):
GGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAA
S
CAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAG
Celera SNP ID:                hCV16288693
SNP Position Transcript:      214
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2075):
ATAGCTTCTTCAGTTTCCCAGAACTGCAGGTGCTGGATTTATCCAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTC
Y
ACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAG
Celera SNP ID:                hCV25761144
SNP Position Transcript:      548
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,2|T,20)  total(C,2|T,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 105,(S,TCT) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 105,(S,TCT) (S,TCC)



Context              (SEQ ID NO:2076):
ACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTG
K
TTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACT
Celera SNP ID:                hCV16284839
SNP Position Transcript:      1151
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 306,(C,TGT) (W,TGG)



Context              (SEQ ID NO:2077):
TTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCC
R
ACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAG
Celera SNP ID:                hCV25606729
SNP Position Transcript:      1314
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 361,(N,AAC) (D,GAC)



Context              (SEQ ID NO:2078):
TTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTC
R
AAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCA
Celera SNP ID:                hCV31784026
SNP Position Transcript:      1653
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 474,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2079):
CTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTT
K
AGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCT
Celera SNP ID:                hCV31784024
SNP Position Transcript:      1388
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 385,(L,TTG) (F,TTT)



Context              (SEQ ID NO:2080):
GTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATT
Y
CTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGA
Celera SNP ID:                hCV31784025
SNP Position Transcript:      1562
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 443,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2081):
TGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAA
R
TTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACT
Celera SNP ID:                hCV31784029
SNP Position Transcript:      2192
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 653,(K,AAG) (K,AAA)



Context              (SEQ ID NO:2082):
GCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAA
Y
CAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCC
Celera SNP ID:                hCV11722237
SNP Position Transcript:      1429
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,2)  total(C,73|T,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 399,(T,ACC) (I,ATC)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,436|T,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 399,(T,ACC) (I,ATC)



Context              (SEQ ID NO:2083):
CCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTT
M
TTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGC
Celera SNP ID:                hCV25606727
SNP Position Transcript:      1829
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 532,(F,TTC) (L,TTA)



Context              (SEQ ID NO:2084):
AAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAA
R
AGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCA
Celera SNP ID:                hCV25606728
SNP Position Transcript:      1295
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,38|G,0)  total(A,77|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 354,(K,AAA) (K,AAG)



Context              (SEQ ID NO:2085):
TTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCA
R
ACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCT
Celera SNP ID:                hCV2317679
SNP Position Transcript:      165
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2086):
TAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGA
R
CCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGG
Celera SNP ID:                hCV2317681
SNP Position Transcript:      179
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2087):
TGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACA
R
AAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGG
Celera SNP ID:                hCV16288694
SNP Position Transcript:      211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2088):
GAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATG
R
TATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGG
Celera SNP ID:                hCV11722238
SNP Position Transcript:      1129
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,25|G,3)  african american(A,30|G,6)  total(A,55|G,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 299,(D,GAT) (G,GGT)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,26|G,436)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 299,(D,GAT) (G,GGT)



Context              (SEQ ID NO:2089):
CTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATG
K
TTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGA
Celera SNP ID:                hCV16284832
SNP Position Transcript:      1162
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 310,(V,GTT) (G,GGT)



Context              (SEQ ID NO:2090):
ACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCC
M
ATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGC
Celera SNP ID:                hCV25606733
SNP Position Transcript:      668
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|C,5)  african american(A,0|C,6)  total(A,1|C,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 145,(P,CCC) (P,CCA)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 145,(P,CCC) (P,CCA)



Context              (SEQ ID NO:2091):
AAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCA
K
TTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGA
Celera SNP ID:                hCV31784027
SNP Position Transcript:      1763
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 510,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:2092):
AGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCA
R
TCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGG
Celera SNP ID:                hCV32375268
SNP Position Transcript:      722
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:377, 163,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:2093):
CTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTC
R
AAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGT
Celera SNP ID:                hCV32375269
SNP Position Transcript:      796
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 188,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2094):
AACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTT
S
TATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGC
Celera SNP ID:                hCV32375270
SNP Position Transcript:      970
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 246,(C,TGT) (S,TCT)



Context              (SEQ ID NO:2095):
TACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATA
R
TTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAA
Celera SNP ID:                hCV32375271
SNP Position Transcript:      1219
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 329,(N,AAT) (S,AGT)



Context              (SEQ ID NO:2096):
AAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATG
R
ATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCT
Celera SNP ID:                hCV32375272
SNP Position Transcript:      2012
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:377, 593,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2097):
CTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAA
R
GAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTC
Celera SNP ID:                hCV32375273
SNP Position Transcript:      2314
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 694,(K,AAG) (R,AGG)



Context              (SEQ ID NO:2098):
AGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTC
R
TGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAG
Celera SNP ID:                hCV32375274
SNP Position Transcript:      2521
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 763,(H,CAT) (R,CGT)



Context              (SEQ ID NO:2099):
TGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGG
M
AGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCT
Celera SNP ID:                hCV32375275
SNP Position Transcript:      2733
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:377, 834,(K,AAG) (Q,CAG)



Context              (SEQ ID NO:2100):
GTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGG
M
GCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCA
Celera SNP ID:                hCV31784030
SNP Position Transcript:      2909
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2101):
AAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCA
Y
TTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTC
Celera SNP ID:                hCV31784031
SNP Position Transcript:      3156
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2102):
ACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTA
R
TGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTT
Celera SNP ID:                hCV8788483
SNP Position Transcript:      3277
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2103):
TCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGA
R
CATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATA
Celera SNP ID:                hCV8788490
SNP Position Transcript:      3338
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2104):
TTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAA
R
AGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGG
Celera SNP ID:                hCV31784032
SNP Position Transcript:      3501
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2105):
CTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAA
Y
GGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCA
Celera SNP ID:                hCV31784033
SNP Position Transcript:      3616
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2106):
GTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTA
K
AGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCA
Celera SNP ID:                hCV8788491
SNP Position Transcript:      3665
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2107):
AAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCA
K
GAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAA
Celera SNP ID:                hCV8788492
SNP Position Transcript:      3671
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2108):
TAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGAT
K
ACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAG
Celera SNP ID:                hCV8788498
SNP Position Transcript:      3686
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2109):
AAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGA
R
GTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGAT
Celera SNP ID:                hCV8788499
SNP Position Transcript:      3696
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2110):
GGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGA
W
GTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCA
Celera SNP ID:                hCV8788500
SNP Position Transcript:      3771
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2111):
GATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCT
M
TGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATA
Celera SNP ID:                hCV8788507
SNP Position Transcript:      3810
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2112):
AAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCT
M
TTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTG
Celera SNP ID:                hCV8788508
SNP Position Transcript:      3818
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2113):
AGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACC
Y
TTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGA
Celera SNP ID:                hCV29292007
SNP Position Transcript:      3859
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2114):
GAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTG
M
CAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTA
Celera SNP ID:                hCV8788509
SNP Position Transcript:      3869
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2115):
CCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAA
S
AGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACA
Celera SNP ID:                hCV31784034
SNP Position Transcript:      3958
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2116):
AAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTG
R
AAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACC
Celera SNP ID:                hCV15823907
SNP Position Transcript:      4431
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2117):
AATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAG
R
AAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTAT
Celera SNP ID:                hCV15823906
SNP Position Transcript:      4449
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2118):
AAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGG
R
ATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATAT
Celera SNP ID:                hCV15823899
SNP Position Transcript:      4500
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2119):
GAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTC
S
TATAATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTG
Celera SNP ID:                hCV29292008
SNP Position Transcript:      4763
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2120):
TACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTG
Y
GCATTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTA
Celera SNP ID:                hCV31784036
SNP Position Transcript:      5164
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2121):
TATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCT
R
TTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACC
Celera SNP ID:                hCV31784037
SNP Position Transcript:      5309
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2122):
TACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATAC
R
TTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCT
Celera SNP ID:                hCV31784038
SNP Position Transcript:      5379
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Context              (SEQ ID NO:2123):
CCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATA
Y
ATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA
Celera SNP ID:                hCV31784039
SNP Position Transcript:      5453
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:377, None



Gene Number:                  51
Celera Gene:                  hCG27399 - 146000220312482
Celera Transcript:            hCT1961394 - 146000220312489
Public Transcript Accession:  NM_003266
Celera Protein:               hCP1774277 - 197000064928735
Public Protein Accession:     NP_003257
Gene Symbol:                  TLR4
Protein Name:                  toll-like receptor 4
Celera Genomic Axis:          GA_x5YUV32W1V9(4596116..4621277)
Chromosome:                   9
OMIM NUMBER:                  603030
OMIM Information:             Endotoxin hyporesponsiveness (3)


Transcript Sequence  (SEQ ID NO:117):
CTGTGACAAAAGAGATAACTATTAGAGAAACAAAAGTCCAGAATGCTAAGGTTGCCGCTTTCACTTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATA
CACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACT
GCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGAC
CAGAAAGCTGGGAGCCCTGCGTGGAGACTTGGCCCTAAACCACACAGAAGAGCTGGCATGAAACCCAGAGCTTTCAGACTCCGGAGCCTCAGCCCTTCAC
CCCGATTCCATTGCTTCTTGCTAAATGCTGCCGTTTTATCACGGAGGTGGTTCCTAATATTACTTATCAATGCATGGAGCTGAATTTCTACAAAATCCCC
GACAACCTCCCCTTCTCAACCAAGAACCTGGACCTGAGCTTTAATCCCCTGAGGCATTTAGGCAGCTATAGCTTCTTCAGTTTCCCAGAACTGCAGGTGC
TGGATTTATCCAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTCTACCTTAATATTGACAGGAAACCCCATCCAGAG
TTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTC
AAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTT
CCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAA
CTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTTGTATTCAAGGT
CTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATT
TGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGT
GAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAA
CTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAA
ATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTC
AAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATTCCTATCACTCAGAAACCTC
ATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGAAAATGGCTGGCAATTCTT
TCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATT
TAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTT
GATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTT
GTACTTGTGAACACCAGAGTTTCCTGCAATGGATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCA
GGGCATGCCTGTGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTT
CTGGTCTATAAGTTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCC
AGGATGAGGACTGGGTAAGGAATGAGCTAGTAAAGAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGT
GGCCATTGCTGCCAACATCATCCATGAAGGTTTCCATAAAAGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTT
GAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTCGTGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGG
TGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAGTGGGAGGACAGTGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCT
GGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGGCAGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGC
ATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCAC
TAGATATGCAGGGCTGCTAATCTCAAGGAGCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTC
AGTCAAGGAACCCATGACAAAGAAAGTCATTTCAACTCTTACCTCATCAAGTTGAATAAAGACAGAGAAAACAGAAAGAGACATTGTTCTTTTCCTGAGT
CTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCACTTTTTCCTTTTTGATTGAATACAA
TTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGG
CTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTAT
TTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTA
TTTTTCAAGGAAGTATGGAAAAGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCAT
TGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGT
GGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTT
TTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTA
CGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTATCATTGAGAAA
ACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACAGAACATTCAAGAAAAGGACAAT
CAGGATGTCATCAGGGAAATGAAAATAAAAACCACAATGAGATATCACCTTATACCAGGTAGAATGGCTACTATAAAAAAATGAAGTGTCATCAAGGATA
TAGAGAAATTGGAACCCTTCTTCACTGCTGGAGGGAATGGAAAATGGTGTAGCCGTTATGAAAAACAGTACGGAGGTTTCTCAAAAATTAAAAATAGAAC
TGCTATATGATCCAGCAATCTCACTTCTGTATATATACCCAAAATAATTGAAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACT
CTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTAT
TCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATA
CTGCCTGATTTCATTTATATGAGGTTCTAAAATAGTCAAACTCATAGAAGCAGAGAATAGAACAGTGGTTCCTAGGGAAAAGGAGGAAGGGAGAAATGAG
GAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTCGTATAATGAACAATACTG
TATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTGGAGGTGATGGATATATT
TATTACCTTGATTGTGGTGATGGTTTGACAGGTATGTGACTATGTCTAAACTCATCAAATTGTATACATTAAATATATGCAGTTTTATAATATCAATTAT
GTCTGAATGAAGCTATAAAAAAGAAAAGACAACAAAATTCAGTTGTCAAAACTGGAAATATGACCACAGTCAGAAGTGTTTGTTACTGAGTGTTTCAGAG
TGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTGTGCATTTGTGCACATAT
CCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATA
CATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGT
TCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCTT
CTGAATTAGGCACAGTAAGAGATTAA


Protein Sequence     (SEQ ID NO:378):
MELNFYKIPDNLPFSTKNLDLSFNPLRHLGSYSFFSFPELQVLDLSRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLAS
LENFPIGHLKTLKELNVAHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQMPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSL
NVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDIIDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNC
KFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEF
SVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPY
KCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQLLVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLS
VLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQH
FIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI*



SNP Information


Context              (SEQ ID NO:2124):
TTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGC
R
AGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCAT
Celera SNP ID:                hCV2317680
SNP Position Transcript:      177
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2125):
GGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAA
S
CAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAG
Celera SNP ID:                hCV16288693
SNP Position Transcript:      214
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2126):
ATAGCTTCTTCAGTTTCCCAGAACTGCAGGTGCTGGATTTATCCAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTC
Y
ACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAG
Celera SNP ID:                hCV25761144
SNP Position Transcript:      668
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,2|T,20)  total(C,2|T,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 65,(S,TCT) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 65,(S,TCT) (S,TCC)



Context              (SEQ ID NO:2127):
ACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTG
K
TTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACT
Celera SNP ID:                hCV16284839
SNP Position Transcript:      1271
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 266,(C,TGT) (W,TGG)



Context              (SEQ ID NO:2128):
TTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCC
R
ACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAG
Celera SNP ID:                hCV25606729
SNP Position Transcript:      1434
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 321,(N,AAC) (D,GAC)



Context              (SEQ ID NO:2129):
GCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAGCCCTGCGTGGAGACTTGGCCCTAAACCACACAG
M
AGAGCTGGCATGAAACCCAGAGCTTTCAGACTCCGGAGCCTCAGCCCTTCACCCCGATTCCATTGCTTCTTGCTAAATGCTGCCGTTTTATCACGGAGGT
Celera SNP ID:                hCV31784009
SNP Position Transcript:      348
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2130):
TTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTC
R
AAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCA
Celera SNP ID:                hCV31784026
SNP Position Transcript:      1773
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 434,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2131):
CTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTT
K
AGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCT
Celera SNP ID:                hCV31784024
SNP Position Transcript:      1508
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 345,(L,TTG) (F,TTT)



Context              (SEQ ID NO:2132):
GTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATT
Y
CTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGA
Celera SNP ID:                hCV31784025
SNP Position Transcript:      1682
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 403,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2133):
TGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAA
R
TTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACT
Celera SNP ID:                hCV31784029
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 613,(K,AAG) (K,AAA)



Context              (SEQ ID NO:2134):
GCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAA
Y
CAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCC
Celera SNP ID:                hCV11722237
SNP Position Transcript:      1549
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,2)  total(C,73|T,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 359,(T,ACC) (I,ATC)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,436|T,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 359,(T,ACC) (I,ATC)



Context              (SEQ ID NO:2135):
CCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTT
M
TTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGC
Celera SNP ID:                hCV25606727
SNP Position Transcript:      1949
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 492,(F,TTC) (L,TTA)



Context              (SEQ ID NO:2136):
AAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAA
R
AGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCA
Celera SNP ID:                hCV25606728
SNP Position Transcript:      1415
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,38|G,0)  total(A,77|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 314,(K,AAA) (K,AAG)



Context              (SEQ ID NO:2137):
TTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCA
R
ACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCT
Celera SNP ID:                hCV2317679
SNP Position Transcript:      165
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2138):
TAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGA
R
CCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGG
Celera SNP ID:                hCV2317681
SNP Position Transcript:      179
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2139):
TGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACA
R
AAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGG
Celera SNP ID:                hCV16288694
SNP Position Transcript:      211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2140):
GAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATG
R
TATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGG
Celera SNP ID:                hCV11722238
SNP Position Transcript:      1249
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,25|G,3)  african american(A,30|G,6)  total(A,55|G,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 259,(D,GAT) (G,GGT)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,26|G,436)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 259,(D,GAT) (G,GGT)



Context              (SEQ ID NO:2141):
CTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATG
K
TTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGA
Celera SNP ID:                hCV16284832
SNP Position Transcript:      1282
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 270,(V,GTT) (G,GGT)



Context              (SEQ ID NO:2142):
ACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCC
M
ATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGC
Celera SNP ID:                hCV25606733
SNP Position Transcript:      788
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|C,5)  african american(A,0|C,6)  total(A,1|C,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 105,(P,CCC) (P,CCA)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 105,(P,CCC) (P,CCA)



Context              (SEQ ID NO:2143):
AAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCA
K
TTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGA
Celera SNP ID:                hCV31784027
SNP Position Transcript:      1883
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 470,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:2144):
AGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCA
R
TCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGG
Celera SNP ID:                hCV32375268
SNP Position Transcript:      842
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:378, 123,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:2145):
CTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTC
R
AAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGT
Celera SNP ID:                hCV32375269
SNP Position Transcript:      916
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 148,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2146):
AACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTT
S
TATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGC
Celera SNP ID:                hCV32375270
SNP Position Transcript:      1090
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 206,(C,TGT) (S,TCT)



Context              (SEQ ID NO:2147):
TACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATA
R
TTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAA
Celera SNP ID:                hCV32375271
SNP Position Transcript:      1339
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 289,(N,AAT) (S,AGT)



Context              (SEQ ID NO:2148):
AAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATG
R
ATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCT
Celera SNP ID:                hCV32375272
SNP Position Transcript:      2132
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:378, 553,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2149):
CTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAA
R
GAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTC
Celera SNP ID:                hCV32375273
SNP Position Transcript:      2434
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 654,(K,AAG) (R,AGG)



Context              (SEQ ID NO:2150):
AGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTC
R
TGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAG
Celera SNP ID:                hCV32375274
SNP Position Transcript:      2641
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 723,(H,CAT) (R,CGT)



Context              (SEQ ID NO:2151):
TGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGG
M
AGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCT
Celera SNP ID:                hCV32375275
SNP Position Transcript:      2853
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:378, 794,(K,AAG) (Q,CAG)



Context              (SEQ ID NO:2152):
GTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGG
M
GCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCA
Celera SNP ID:                hCV31784030
SNP Position Transcript:      3029
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2153):
AAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCA
Y
TTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTC
Celera SNP ID:                hCV31784031
SNP Position Transcript:      3276
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2154):
ACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTA
R
TGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTT
Celera SNP ID:                hCV8788483
SNP Position Transcript:      3397
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2155):
TCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGA
R
CATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATA
Celera SNP ID:                hCV8788490
SNP Position Transcript:      3458
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2156):
TTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAA
R
AGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGG
Celera SNP ID:                hCV31784032
SNP Position Transcript:      3621
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2157):
CTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAA
Y
GGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCA
Celera SNP ID:                hCV31784033
SNP Position Transcript:      3736
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2158):
GTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTA
K
AGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCA
Celera SNP ID:                hCV8788491
SNP Position Transcript:      3785
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2159):
AAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCA
K
GAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAA
Celera SNP ID:                hCV8788492
SNP Position Transcript:      3791
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2160):
TAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGAT
K
ACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAG
Celera SNP ID:                hCV8788498
SNP Position Transcript:      3806
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2161):
AAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGA
R
GTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGAT
Celera SNP ID:                hCV8788499
SNP Position Transcript:      3816
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2162):
GGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGA
W
GTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCA
Celera SNP ID:                hCV8788500
SNP Position Transcript:      3891
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2163):
GATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCT
M
TGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATA
Celera SNP ID:                hCV8788507
SNP Position Transcript:      3930
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2164):
AAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCT
M
TTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTG
Celera SNP ID:                hCV8788508
SNP Position Transcript:      3938
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2165):
AGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACC
Y
TTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGA
Celera SNP ID:                hCV29292007
SNP Position Transcript:      3979
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2166):
GAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTG
M
CAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTA
Celera SNP ID:                hCV8788509
SNP Position Transcript:      3989
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2167):
CCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAA
S
AGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACA
Celera SNP ID:                hCV31784034
SNP Position Transcript:      4078
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2168):
AAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTG
R
AAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACC
Celera SNP ID:                hCV15823907
SNP Position Transcript:      4551
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2169):
AATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAG
R
AAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTAT
Celera SNP ID:                hCV15823906
SNP Position Transcript:      4569
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2170):
AAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGG
R
ATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATAT
Celera SNP ID:                hCV15823899
SNP Position Transcript:      4620
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2171):
GAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTC
S
TATAATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTG
Celera SNP ID:                hCV29292008
SNP Position Transcript:      4883
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2172):
TACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTG
Y
GCATTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTA
Celera SNP ID:                hCV31784036
SNP Position Transcript:      5284
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2173):
TATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCT
R
TTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACC
Celera SNP ID:                hCV31784037
SNP Position Transcript:      5429
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2174):
TACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATAC
R
TTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCT
Celera SNP ID:                hCV31784038
SNP Position Transcript:      5499
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Context              (SEQ ID NO:2175):
CCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATA
Y
ATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA
Celera SNP ID:                hCV31784039
SNP Position Transcript:      5573
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:378, None



Gene Number:                  51
Celera Gene:                  hCG27399 - 146000220312482
Celera Transcript:            hCT1961395 - 146000220312483
Public Transcript Accession:  NM_138554
Celera Protein:               hCP1774243 - 197000064928734
Public Protein Accession:     NP_612564
Gene Symbol:                  TLR4
Protein Name:                  toll-like receptor 4
Celera Genomic Axis:          GA_x5YUV32W1V9(4596116..4621277)
Chromosome:                   9
OMIM NUMBER:                  603030
OMIM Information:             Endotoxin hyporesponsiveness (3)


Transcript Sequence  (SEQ ID NO:118):
CTGTGACAAAAGAGATAACTATTAGAGAAACAAAAGTCCAGAATGCTAAGGTTGCCGCTTTCACTTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATA
CACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACT
GCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGAC
CAGAAAGCTGGGAGCCCTGCGTGGAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTCTACCTTAATATTGACAGGAA
ACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCC
CATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAG
CACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCC
TGAACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAAC
TTGTATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAG
GGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTT
CATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTT
TCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTA
GATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTA
TTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATTCCTATC
ACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGAAAATG
GCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGT
CTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTC
CCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAG
AATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATGGATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACAC
CTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATC
TGTTGTAGCAGTTCTGGTCTATAAGTTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTT
ATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAAAGAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACT
TTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTCCATAAAAGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCG
CTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTCGTGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTG
CTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAGTGGGAGGACAGTGTCCTGGGGCGGCACATCTTCTGGAGACGACTCA
GAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGGCAGGAAGCAACATCTATCTGAAGAGGAAAAATAAA
AACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAA
TTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGGAGCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCA
TTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCATTTCAACTCTTACCTCATCAAGTTGAATAAAGACAGAGAAAACAGAAAGAGACATTGT
TCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCACTTTTTCCTTTT
TGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGT
TAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCT
GATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCC
ATATTAACCACTATTTTTCAAGGAAGTATGGAAAAGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTC
ATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAG
GCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGC
AGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACT
GCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGT
TATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACAGAACATTCA
AGAAAAGGACAATCAGGATGTCATCAGGGAAATGAAAATAAAAACCACAATGAGATATCACCTTATACCAGGTAGAATGGCTACTATAAAAAAATGAAGT
GTCATCAAGGATATAGAGAAATTGGAACCCTTCTTCACTGCTGGAGGGAATGGAAAATGGTGTAGCCGTTATGAAAAACAGTACGGAGGTTTCTCAAAAA
TTAAAAATAGAACTGCTATATGATCCAGCAATCTCACTTCTGTATATATACCCAAAATAATTGAAATCAGAATTTCAAGAAAATATTTACACTCCCATGT
TCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTAC
AATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAAC
AGAAAGACAAATACTGCCTGATTTCATTTATATGAGGTTCTAAAATAGTCAAACTCATAGAAGCAGAGAATAGAACAGTGGTTCCTAGGGAAAAGGAGGA
AGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTCGTATA
ATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTGGAGG
TGATGGATATATTTATTACCTTGATTGTGGTGATGGTTTGACAGGTATGTGACTATGTCTAAACTCATCAAATTGTATACATTAAATATATGCAGTTTTA
TAATATCAATTATGTCTGAATGAAGCTATAAAAAAGAAAAGACAACAAAATTCAGTTGTCAAAACTGGAAATATGACCACAGTCAGAAGTGTTTGTTACT
GAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTGTGCA
TTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATAT
TTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGC
TTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGA
TAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA


Protein Sequence     (SEQ ID NO:379):
MPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDI
IDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTS
LKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTF
LDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQL
LVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGV
PPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDS
VLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI*



SNP Information


Context              (SEQ ID NO:2176):
TTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGC
R
AGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCAT
Celera SNP ID:                hCV2317680
SNP Position Transcript:      177
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2177):
GGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAA
S
CAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAG
Celera SNP ID:                hCV16288693
SNP Position Transcript:      214
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2178):
CTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAGCCCTGCGTGGAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTC
Y
ACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAG
Celera SNP ID:                hCV25761144
SNP Position Transcript:      381
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,2|T,20)  total(C,2|T,22)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2179):
ACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTG
K
TTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACT
Celera SNP ID:                hCV16284839
SNP Position Transcript:      984
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 106,(C,TGT) (W,TGG)



Context              (SEQ ID NO:2180):
TTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCC
R
ACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAG
Celera SNP ID:                hCV25606729
SNP Position Transcript:      1147
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 161,(N,AAC) (D,GAC)



Context              (SEQ ID NO:2181):
TTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTC
R
AAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCA
Celera SNP ID:                hCV31784026
SNP Position Transcript:      1486
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 274,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2182):
CTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTT
K
AGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCT
Celera SNP ID:                hCV31784024
SNP Position Transcript:      1221
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 185,(L,TTG) (F,TTT)



Context              (SEQ ID NO:2183):
GTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATT
Y
CTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGA
Celera SNP ID:                hCV31784025
SNP Position Transcript:      1395
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:379, 243,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2184):
TGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAA
R
TTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACT
Celera SNP ID:                hCV31784029
SNP Position Transcript:      2025
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:379, 453,(K,AAG) (K,AAA)



Context              (SEQ ID NO:2185):
GCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAA
Y
CAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCC
Celera SNP ID:                hCV11722237
SNP Position Transcript:      1262
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,2)  total(C,73|T,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 199,(T,ACC) (I,ATC)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,436|T,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 199,(T,ACC) (I,ATC)



Context              (SEQ ID NO:2186):
CCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTT
M
TTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGC
Celera SNP ID:                hCV25606727
SNP Position Transcript:      1662
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 332,(F,TTC) (L,TTA)



Context              (SEQ ID NO:2187):
AAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAA
R
AGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCA
Celera SNP ID:                hCV25606728
SNP Position Transcript:      1128
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,38|G,0)  total(A,77|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:379, 154,(K,AAA) (K,AAG)



Context              (SEQ ID NO:2188):
TTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCA
R
ACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCT
Celera SNP ID:                hCV2317679
SNP Position Transcript:      165
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2189):
TAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGA
R
CCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGG
Celera SNP ID:                hCV2317681
SNP Position Transcript:      179
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2190):
TGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACA
R
AAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGG
Celera SNP ID:                hCV16288694
SNP Position Transcript:      211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2191):
GAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATG
R
TATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGG
Celera SNP ID:                hCV11722238
SNP Position Transcript:      962
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,25|G,3)  african american(A,30|G,6)  total(A,55|G,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 99,(D,GAT) (G,GGT)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,26|G,436)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 99,(D,GAT) (G,GGT)



Context              (SEQ ID NO:2192):
CTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATG
K
TTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGA
Celera SNP ID:                hCV16284832
SNP Position Transcript:      995
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 110,(V,GTT) (G,GGT)



Context              (SEQ ID NO:2193):
ACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCC
M
ATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGC
Celera SNP ID:                hCV25606733
SNP Position Transcript:      501
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|C,5)  african american(A,0|C,6)  total(A,1|C,11)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2194):
AAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCA
K
TTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGA
Celera SNP ID:                hCV31784027
SNP Position Transcript:      1596
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 310,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:2195):
AACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTT
S
TATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGC
Celera SNP ID:                hCV32375270
SNP Position Transcript:      803
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 46,(C,TGT) (S,TCT)



Context              (SEQ ID NO:2196):
TACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATA
R
TTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAA
Celera SNP ID:                hCV32375271
SNP Position Transcript:      1052
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 129,(N,AAT) (S,AGT)



Context              (SEQ ID NO:2197):
AAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATG
R
ATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCT
Celera SNP ID:                hCV32375272
SNP Position Transcript:      1845
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:379, 393,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2198):
CTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAA
R
GAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTC
Celera SNP ID:                hCV32375273
SNP Position Transcript:      2147
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 494,(K,AAG) (R,AGG)



Context              (SEQ ID NO:2199):
AGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTC
R
TGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAG
Celera SNP ID:                hCV32375274
SNP Position Transcript:      2354
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 563,(H,CAT) (R,CGT)



Context              (SEQ ID NO:2200):
TGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGG
M
AGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCT
Celera SNP ID:                hCV32375275
SNP Position Transcript:      2566
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:379, 634,(K,AAG) (Q,CAG)



Context              (SEQ ID NO:2201):
GTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGG
M
GCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCA
Celera SNP ID:                hCV31784030
SNP Position Transcript:      2742
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2202):
AAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCA
Y
TTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTC
Celera SNP ID:                hCV31784031
SNP Position Transcript:      2989
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2203):
ACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTA
R
TGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTT
Celera SNP ID:                hCV8788483
SNP Position Transcript:      3110
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2204):
TCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGA
R
CATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATA
Celera SNP ID:                hCV8788490
SNP Position Transcript:      3171
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2205):
TTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAA
R
AGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGG
Celera SNP ID:                hCV31784032
SNP Position Transcript:      3334
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2206):
CTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAA
Y
GGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCA
Celera SNP ID:                hCV31784033
SNP Position Transcript:      3449
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2207):
GTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTA
K
AGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCA
Celera SNP ID:                hCV8788491
SNP Position Transcript:      3498
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2208):
AAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCA
K
GAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAA
Celera SNP ID:                hCV8788492
SNP Position Transcript:      3504
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2209):
TAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGAT
K
ACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAG
Celera SNP ID:                hCV8788498
SNP Position Transcript:      3519
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2210):
AAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGA
R
GTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGAT
Celera SNP ID:                hCV8788499
SNP Position Transcript:      3529
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2211):
GGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGA
W
GTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCA
Celera SNP ID:                hCV8788500
SNP Position Transcript:      3604
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2212):
GATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCT
M
TGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATA
Celera SNP ID:                hCV8788507
SNP Position Transcript:      3643
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2213):
AAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCT
M
TTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTG
Celera SNP ID:                hCV8788508
SNP Position Transcript:      3651
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2214):
AGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACC
Y
TTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGA
Celera SNP ID:                hCV29292007
SNP Position Transcript:      3692
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2215):
GAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTG
M
CAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTA
Celera SNP ID:                hCV8788509
SNP Position Transcript:      3702
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2216):
CCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAA
S
AGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACA
Celera SNP ID:                hCV31784034
SNP Position Transcript:      3791
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2217):
AAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTG
R
AAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACC
Celera SNP ID:                hCV15823907
SNP Position Transcript:      4264
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2218):
AATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAG
R
AAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTAT
Celera SNP ID:                hCV15823906
SNP Position Transcript:      4282
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2219):
AAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGG
R
ATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATAT
Celera SNP ID:                hCV15823899
SNP Position Transcript:      4333
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2220):
GAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTC
S
TATAATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTG
Celera SNP ID:                hCV29292008
SNP Position Transcript:      4596
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2221):
TACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTG
Y
GCATTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTA
Celera SNP ID:                hCV31784036
SNP Position Transcript:      4997
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2222):
TATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCT
R
TTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACC
Celera SNP ID:                hCV31784037
SNP Position Transcript:      5142
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2223):
TACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATAC
R
TTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCT
Celera SNP ID:                hCV31784038
SNP Position Transcript:      5212
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2224):
CCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATA
Y
ATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA
Celera SNP ID:                hCV31784039
SNP Position Transcript:      5286
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2225):
AGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCA
R
TCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGG
Celera SNP ID:                hCV32375268
SNP Position Transcript:      555
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Context              (SEQ ID NO:2226):
CTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTC
R
AAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGT
Celera SNP ID:                hCV32375269
SNP Position Transcript:      629
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:379, None



Gene Number:                  51
Celera Gene:                  hCG27399 - 146000220312482
Celera Transcript:            hCT2316295 - 146000220312497
Public Transcript Accession:  NM_138554
Celera Protein:               hCP1796095 - 197000064928736
Public Protein Accession:     NP_612564
Gene Symbol:                  TLR4
Protein Name:                  toll-like receptor 4
Celera Genomic Axis:          GA_x5YUV32W1V9(4596116..4621277)
Chromosome:                   9
OMIM NUMBER:                  603030
OMIM Information:             Endotoxin hyporesponsiveness (3)


Transcript Sequence  (SEQ ID NO:119):
CTGTGACAAAAGAGATAACTATTAGAGAAACAAAAGTCCAGAATGCTAAGGTTGCCGCTTTCACTTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATA
CACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACT
GCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGAC
CAGAAAGCTGGGAGCCCTGCGTGGAGACTTGGCCCTAAACCACACAGAAGAGCTGGCATGAAACCCAGAGCTTTCAGACTCCGGAGCCTCAGCCCTTCAC
CCCGATTCCATTGCTTCTTGCTAAATGCTGCCGTTTTATCACGGAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTC
TACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTA
GCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTT
CTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAA
TCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGAT
AGTTTAAATGTAATGAAAACTTGTATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGT
TTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAA
TTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTT
AACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATC
TACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGA
TCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGT
GAGTTTTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCA
GTCTCGAAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCA
GTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTT
CCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAG
CTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATGGATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGA
ACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTC
CTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAAGTTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAA
ACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAAAGAATTTAGAAGAAGGGGTGCCTCCATTTCAGCT
CTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTCCATAAAAGCCGAAAGGTGATTGTTGTGGTGTCC
CAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTCGTGCTGGTATCATCTTCATTGTCCTGC
AGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAGTGGGAGGACAGTGTCCTGGGGCGGCA
CATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGGCAGGAAGCAACATCT
ATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGC
CTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGGAGCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATA
CAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCATTTCAACTCTTACCTCATCAAGTTGAATAAAGACAGAG
AAAACAGAAAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTG
GGTGTTCACTTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAA
GTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTA
TTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTT
AAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAAAAGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTG
CCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATC
ATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGAC
CTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCC
TCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCAC
ATTTTGGGAAGAGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCT
CCTCAGAAACAGAACATTCAAGAAAAGGACAATCAGGATGTCATCAGGGAAATGAAAATAAAAACCACAATGAGATATCACCTTATACCAGGTAGAATGG
CTACTATAAAAAAATGAAGTGTCATCAAGGATATAGAGAAATTGGAACCCTTCTTCACTGCTGGAGGGAATGGAAAATGGTGTAGCCGTTATGAAAAACA
GTACGGAGGTTTCTCAAAAATTAAAAATAGAACTGCTATATGATCCAGCAATCTCACTTCTGTATATATACCCAAAATAATTGAAATCAGAATTTCAAGA
AAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAA
GAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCT
ATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATATGAGGTTCTAAAATAGTCAAACTCATAGAAGCAGAGAATAGAACAGTG
GTTCCTAGGGAAAAGGAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGC
TGTATAGCAGAGTTCGTATAATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATA
CACAAGGAAGCTTTTGGAGGTGATGGATATATTTATTACCTTGATTGTGGTGATGGTTTGACAGGTATGTGACTATGTCTAAACTCATCAAATTGTATAC
ATTAAATATATGCAGTTTTATAATATCAATTATGTCTGAATGAAGCTATAAAAAAGAAAAGACAACAAAATTCAGTTGTCAAAACTGGAAATATGACCAC
AGTCAGAAGTGTTTGTTACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACT
AGTGAAAGTAGATGTGTGCATTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTAT
AGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAG
TCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTC
CTATACATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA


Protein Sequence     (SEQ ID NO:380):
MKPRAFRLRSLSPSPRFHCFLLNAAVLSRRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLASLENFPIGHLKTLKELNV
AHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQMPLLNLSLDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHR
LVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDIIDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLT
FTSNKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHT
HTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIM
TSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQLLVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFH
LMLLAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTW
QFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI*



SNP Information


Context              (SEQ ID NO:2227):
TTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGC
R
AGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCAT
Celera SNP ID:                hCV2317680
SNP Position Transcript:      177
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2228):
GGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAA
S
CAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAG
Celera SNP ID:                hCV16288693
SNP Position Transcript:      214
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2229):
CCCGATTCCATTGCTTCTTGCTAAATGCTGCCGTTTTATCACGGAGGTGTGAAATCCAGACAATTGAAGATGGGGCATATCAGAGCCTAAGCCACCTCTC
Y
ACCTTAATATTGACAGGAAACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAG
Celera SNP ID:                hCV25761144
SNP Position Transcript:      501
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,2|T,20)  total(C,2|T,22)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 48,(S,TCT) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 48,(S,TCT) (S,TCC)



Context              (SEQ ID NO:2230):
ACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTG
K
TTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACT
Celera SNP ID:                hCV16284839
SNP Position Transcript:      1104
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 249,(C,TGT) (W,TGG)



Context              (SEQ ID NO:2231):
TTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCC
R
ACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAG
Celera SNP ID:                hCV25606729
SNP Position Transcript:      1267
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 304,(N,AAC) (D,GAC)



Context              (SEQ ID NO:2232):
GCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGGGAGCCCTGCGTGGAGACTTGGCCCTAAACCACACAG
M
AGAGCTGGCATGAAACCCAGAGCTTTCAGACTCCGGAGCCTCAGCCCTTCACCCCGATTCCATTGCTTCTTGCTAAATGCTGCCGTTTTATCACGGAGGT
Celera SNP ID:                hCV31784009
SNP Position Transcript:      348
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2233):
TTCAGTATTCCTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTC
R
AAGTCTTGAAAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCA
Celera SNP ID:                hCV31784026
SNP Position Transcript:      1606
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 417,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2234):
CTCTCAAAAGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTT
K
AGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAACCAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCT
Celera SNP ID:                hCV31784024
SNP Position Transcript:      1341
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 328,(L,TTG) (F,TTT)



Context              (SEQ ID NO:2235):
GTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCCAATTTGAAACAAATGAGTGAGTTTTCAGTATT
Y
CTATCACTCAGAAACCTCATTTACCTTGACATTTCTCATACTCACACCAGAGTTGCTTTCAATGGCATCTTCAATGGCTTGTCCAGTCTCGAAGTCTTGA
Celera SNP ID:                hCV31784025
SNP Position Transcript:      1515
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 386,(F,TTC) (F,TTT)



Context              (SEQ ID NO:2236):
TGCTGAGTTTGAATATCACCTGTCAGATGAATAAGACCATCATTGGTGTGTCGGTCCTCAGTGTGCTTGTAGTATCTGTTGTAGCAGTTCTGGTCTATAA
R
TTCTATTTTCACCTGATGCTTCTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACT
Celera SNP ID:                hCV31784029
SNP Position Transcript:      2145
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 596,(K,AAG) (K,AAA)



Context              (SEQ ID NO:2237):
GCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCAAAGGTTGCTGTTCTCAAAGTGATTTTGGGACAA
Y
CAGCCTAAAGTATTTAGATCTGAGCTTCAATGGTGTTATTACCATGAGTTCAAACTTCTTGGGCTTAGAACAACTAGAACATCTGGATTTCCAGCATTCC
Celera SNP ID:                hCV11722237
SNP Position Transcript:      1382
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,2)  total(C,73|T,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 342,(T,ACC) (I,ATC)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,436|T,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 342,(T,ACC) (I,ATC)



Context              (SEQ ID NO:2238):
CCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCAGTTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTT
M
TTTTCATTGGATACGTTTCCTTATAAGTGTCTGAACTCCCTCCAGGTTCTTGATTACAGTCTCAATCACATAATGACTTCCAAAAAACAGGAACTACAGC
Celera SNP ID:                hCV25606727
SNP Position Transcript:      1782
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 475,(F,TTC) (L,TTA)



Context              (SEQ ID NO:2239):
AAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAA
R
AGGCTTACTTTCACTTCCAACAAAGGTGGGAATGCTTTTTCAGAAGTTGATCTACCAAGCCTTGAGTTTCTAGATCTCAGTAGAAATGGCTTGAGTTTCA
Celera SNP ID:                hCV25606728
SNP Position Transcript:      1248
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,38|G,0)  total(A,77|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 297,(K,AAA) (K,AAG)



Context              (SEQ ID NO:2240):
TTCCTCTCACCCTTTAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCA
R
ACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCT
Celera SNP ID:                hCV2317679
SNP Position Transcript:      165
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2241):
TAGCCCAGAACTGCTTTGAATACACCAATTGCTGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGA
R
CCACGCATTCACAGGGCCACTGCTGCTCACAGAAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGG
Celera SNP ID:                hCV2317681
SNP Position Transcript:      179
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2242):
TGTGGGGCGGCTCGAGGAAGAGAAGACACCAGTGCCTCAGAAACTGCTCGGTCAGACGGTGATAGCGAGCCACGCATTCACAGGGCCACTGCTGCTCACA
R
AAGCAGTGAGGATGATGCCAGGATGATGTCTGCCTCGCGCCTGGCTGGGACTCTGATCCCAGCCATGGCCTTCCTCTCCTGCGTGAGACCAGAAAGCTGG
Celera SNP ID:                hCV16288694
SNP Position Transcript:      211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2243):
GAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATG
R
TATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGG
Celera SNP ID:                hCV11722238
SNP Position Transcript:      1082
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,25|G,3)  african american(A,30|G,6)  total(A,55|G,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 242,(D,GAT) (G,GGT)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,26|G,436)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 242,(D,GAT) (G,GGT)



Context              (SEQ ID NO:2244):
CTAGAGGGCCTGTGCAATTTGACCATTGAAGAATTCCGATTAGCATACTTAGACTACTACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATG
K
TTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATAATTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGA
Celera SNP ID:                hCV16284832
SNP Position Transcript:      1115
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 253,(V,GTT) (G,GGT)



Context              (SEQ ID NO:2245):
ACCCCATCCAGAGTTTAGCCCTGGGAGCCTTTTCTGGACTATCAAGTTTACAGAAGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCC
M
ATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGC
Celera SNP ID:                hCV25606733
SNP Position Transcript:      621
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|C,5)  african american(A,0|C,6)  total(A,1|C,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 88,(P,CCC) (P,CCA)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 88,(P,CCC) (P,CCA)



Context              (SEQ ID NO:2246):
AAATGGCTGGCAATTCTTTCCAGGAAAACTTCCTTCCAGATATCTTCACAGAGCTGAGAAACTTGACCTTCCTGGACCTCTCTCAGTGTCAACTGGAGCA
K
TTGTCTCCAACAGCATTTAACTCACTCTCCAGTCTTCAGGTACTAAATATGAGCCACAACAACTTCTTTTCATTGGATACGTTTCCTTATAAGTGTCTGA
Celera SNP ID:                hCV31784027
SNP Position Transcript:      1716
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 453,(Q,CAG) (H,CAT)



Context              (SEQ ID NO:2247):
AGCTGGTGGCTGTGGAGACAAATCTAGCATCTCTAGAGAACTTCCCCATTGGACATCTCAAAACTTTGAAAGAACTTAATGTGGCTCACAATCTTATCCA
R
TCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTCAAAGTATTTATTGCACAGACTTGCGGG
Celera SNP ID:                hCV32375268
SNP Position Transcript:      675
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:380, 106,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:2248):
CTTAATGTGGCTCACAATCTTATCCAATCTTTCAAATTACCTGAGTATTTTTCTAATCTGACCAATCTAGAGCACTTGGACCTTTCCAGCAACAAGATTC
R
AAGTATTTATTGCACAGACTTGCGGGTTCTACATCAAATGCCCCTACTCAATCTCTCTTTAGACCTGTCCCTGAACCCTATGAACTTTATCCAACCAGGT
Celera SNP ID:                hCV32375269
SNP Position Transcript:      749
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 131,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2249):
AACCCTATGAACTTTATCCAACCAGGTGCATTTAAAGAAATTAGGCTTCATAAGCTGACTTTAAGAAATAATTTTGATAGTTTAAATGTAATGAAAACTT
S
TATTCAAGGTCTGGCTGGTTTAGAAGTCCATCGTTTGGTTCTGGGAGAATTTAGAAATGAAGGAAACTTGGAAAAGTTTGACAAATCTGCTCTAGAGGGC
Celera SNP ID:                hCV32375270
SNP Position Transcript:      923
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 189,(C,TGT) (S,TCT)



Context              (SEQ ID NO:2250):
TACCTCGATGATATTATTGACTTATTTAATTGTTTGACAAATGTTTCTTCATTTTCCCTGGTGAGTGTGACTATTGAAAGGGTAAAAGACTTTTCTTATA
R
TTTCGGATGGCAACATTTAGAATTAGTTAACTGTAAATTTGGACAGTTTCCCACATTGAAACTCAAATCTCTCAAAAGGCTTACTTTCACTTCCAACAAA
Celera SNP ID:                hCV32375271
SNP Position Transcript:      1172
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 272,(N,AAT) (S,AGT)



Context              (SEQ ID NO:2251):
AAAAACAGGAACTACAGCATTTTCCAAGTAGTCTAGCTTTCTTAAATCTTACTCAGAATGACTTTGCTTGTACTTGTGAACACCAGAGTTTCCTGCAATG
R
ATCAAGGACCAGAGGCAGCTCTTGGTGGAAGTTGAACGAATGGAATGTGCAACACCTTCAGATAAGCAGGGCATGCCTGTGCTGAGTTTGAATATCACCT
Celera SNP ID:                hCV32375272
SNP Position Transcript:      1965
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:380, 536,(*,TGA) (W,TGG)



Context              (SEQ ID NO:2252):
CTTGCTGGCTGCATAAAGTATGGTAGAGGTGAAAACATCTATGATGCCTTTGTTATCTACTCAAGCCAGGATGAGGACTGGGTAAGGAATGAGCTAGTAA
R
GAATTTAGAAGAAGGGGTGCCTCCATTTCAGCTCTGCCTTCACTACAGAGACTTTATTCCCGGTGTGGCCATTGCTGCCAACATCATCCATGAAGGTTTC
Celera SNP ID:                hCV32375273
SNP Position Transcript:      2267
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 637,(K,AAG) (R,AGG)



Context              (SEQ ID NO:2253):
AGCCGAAAGGTGATTGTTGTGGTGTCCCAGCACTTCATCCAGAGCCGCTGGTGTATCTTTGAATATGAGATTGCTCAGACCTGGCAGTTTCTGAGCAGTC
R
TGCTGGTATCATCTTCATTGTCCTGCAGAAGGTGGAGAAGACCCTGCTCAGGCAGCAGGTGGAGCTGTACCGCCTTCTCAGCAGGAACACTTACCTGGAG
Celera SNP ID:                hCV32375274
SNP Position Transcript:      2474
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 706,(H,CAT) (R,CGT)



Context              (SEQ ID NO:2254):
TGTCCTGGGGCGGCACATCTTCTGGAGACGACTCAGAAAAGCCCTGCTGGATGGTAAATCATGGAATCCAGAAGGAACAGTGGGTACAGGATGCAATTGG
M
AGGAAGCAACATCTATCTGAAGAGGAAAAATAAAAACCTCCTGAGGCATTTCTTGCCCAGCTGGGTCCAACACTTGTTCAGTTAATAAGTATTAAATGCT
Celera SNP ID:                hCV32375275
SNP Position Transcript:      2686
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:380, 777,(K,AAG) (Q,CAG)



Context              (SEQ ID NO:2255):
GTTCAGTTAATAAGTATTAAATGCTGCCACATGTCAGGCCTTATGCTAAGGGTGAGTAATTCCATGGTGCACTAGATATGCAGGGCTGCTAATCTCAAGG
M
GCTTCCAGTGCAGAGGGAATAAATGCTAGACTAAAATACAGAGTCTTCCAGGTGGGCATTTCAACCAACTCAGTCAAGGAACCCATGACAAAGAAAGTCA
Celera SNP ID:                hCV31784030
SNP Position Transcript:      2862
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2256):
AAGAGACATTGTTCTTTTCCTGAGTCTTTTGAATGGAAATTGTATTATGTTATAGCCATCATAAAACCATTTTGGTAGTTTTGACTGAACTGGGTGTTCA
Y
TTTTTCCTTTTTGATTGAATACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTC
Celera SNP ID:                hCV31784031
SNP Position Transcript:      3109
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2257):
ACAATTTAAATTCTACTTGATGACTGCAGTCGTCAAGGGGCTCCTGATGCAAGATGCCCCTTCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTA
R
TGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGAGCATGTTCTATTTTTTAACTAATCACCCCTGATATATTTT
Celera SNP ID:                hCV8788483
SNP Position Transcript:      3230
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2258):
TCCATTTTAAGTCTGTCTCCTTACAGAGGTTAAAGTCTAGTGGCTAATTCCTAAGGAAACCTGATTAACACATGCTCACAACCATCCTGGTCATTCTCGA
R
CATGTTCTATTTTTTAACTAATCACCCCTGATATATTTTTATTTTTATATATCCAGTTTTCATTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATA
Celera SNP ID:                hCV8788490
SNP Position Transcript:      3291
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2259):
TTTTTTTACGTCTTGCCTATAAGCTAATATCATAAATAAGGTTGTTTAAGACGTGCTTCAAATATCCATATTAACCACTATTTTTCAAGGAAGTATGGAA
R
AGTACACTCTGTCACTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGG
Celera SNP ID:                hCV31784032
SNP Position Transcript:      3454
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2260):
CTTTGTCACTCGATGTCATTCCAAAGTTATTGCCTACTAAGTAATGACTGTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAA
Y
GGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCA
Celera SNP ID:                hCV31784033
SNP Position Transcript:      3569
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2261):
GTCATGAAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTA
K
AGGCAGGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCA
Celera SNP ID:                hCV8788491
SNP Position Transcript:      3618
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2262):
AAAGCAGCATTGAAATAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCA
K
GAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAA
Celera SNP ID:                hCV8788492
SNP Position Transcript:      3624
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2263):
TAATTTGTTTAAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGAT
K
ACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAG
Celera SNP ID:                hCV8788498
SNP Position Transcript:      3639
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2264):
AAAGGGGGCACTCTTTTAAACGGGAAGAAAATTTCCGCTTCCTGGTCTTATCATGGACAATTTGGGCTAGAGGCAGGAAGGAAGTGGGATGACCTCAGGA
R
GTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGAT
Celera SNP ID:                hCV8788499
SNP Position Transcript:      3649
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2265):
GGAAGGAAGTGGGATGACCTCAGGAGGTCACCTTTTCTTGATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGA
W
GTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCA
Celera SNP ID:                hCV8788500
SNP Position Transcript:      3724
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2266):
GATTCCAGAAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCT
M
TGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATA
Celera SNP ID:                hCV8788507
SNP Position Transcript:      3763
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2267):
AAACATATGGGCTGATAAACCCGGGGTGACCTCATGAAATGAGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCT
M
TTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTG
Celera SNP ID:                hCV8788508
SNP Position Transcript:      3771
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2268):
AGTTGCAGCAGAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACC
Y
TTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGA
Celera SNP ID:                hCV29292007
SNP Position Transcript:      3812
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2269):
GAAGTTTATTTTTTTCAGAACAAGTGATGTTTGATGGACCTCTGAATCTCTTTAGGGAGACACAGATGGCTGGGATCCCTCCCCTGTACCCTTCTCACTG
M
CAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAAGAGTGGATGTTA
Celera SNP ID:                hCV8788509
SNP Position Transcript:      3822
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2270):
CCTTCTCACTGCCAGGAGAACTACGTGTGAAGGTATTCAAGGCAGGGAGTATACATTGCTGTTTCCTGTTGGGCAATGCTCCTTGACCACATTTTGGGAA
S
AGTGGATGTTATCATTGAGAAAACAATGTGTCTGGAATTAATGGGGTTCTTATAAAGAAGGTTCCCAGAAAAGAATGTTCATCCAGCCTCCTCAGAAACA
Celera SNP ID:                hCV31784034
SNP Position Transcript:      3911
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2271):
AAATCAGAATTTCAAGAAAATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTG
R
AAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACC
Celera SNP ID:                hCV15823907
SNP Position Transcript:      4384
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2272):
AATATTTACACTCCCATGTTCATTGTGGCACTCTTCACAATCACTGTTTCCAAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAG
R
AAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGGAATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTAT
Celera SNP ID:                hCV15823906
SNP Position Transcript:      4402
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2273):
AAAGTTATGGAAACAACCCAAATTTCCATTGAAAAATAAATGGACAAAGAAAATGTGCATATACGTACAATGGGATATTATTCAGCCTAAAAAAAGGGGG
R
ATCCTGTTATTTATGACAACATGAATAAACCCGGAGGCCATTATGCTATGTAAAATGAGCAAGTAACAGAAAGACAAATACTGCCTGATTTCATTTATAT
Celera SNP ID:                hCV15823899
SNP Position Transcript:      4453
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2274):
GAGGAAGGGAGAAATGAGGAAATAGGGAGTTGTCTAATTGGTATAAAATTATAGTATGCAAGATGAATTAGCTCTAAAGATCAGCTGTATAGCAGAGTTC
S
TATAATGAACAATACTGTATTATGCACTTAACATTTTGTTAAGAGGGTACCTCTCATGTTAAGTGTTCTTACCATATACATATACACAAGGAAGCTTTTG
Celera SNP ID:                hCV29292008
SNP Position Transcript:      4716
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2275):
TACTGAGTGTTTCAGAGTGTGTTTGGTTTGAGCAGGTCTAGGGTGATTGAACATCCCTGGGTGTGTTTCCATGTCTCATGTACTAGTGAAAGTAGATGTG
Y
GCATTTGTGCACATATCCCTATGTATCCCTATCAGGGCTGTGTGTATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTA
Celera SNP ID:                hCV31784036
SNP Position Transcript:      5117
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2276):
TATTTGAAAGTGTGTGTGTCCGCATGATCATATCTGTATAGAAGAGAGTGTGATTATATTTCTTGAAGAATACATCCATTTGAAATGGATGTCTATGGCT
R
TTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACC
Celera SNP ID:                hCV31784037
SNP Position Transcript:      5262
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2277):
TACATCCATTTGAAATGGATGTCTATGGCTGTTTGAGATGAGTTCTCTACTCTTGTGCTTGTACAGTAGTCTCCCCTTATCCCTTATGCTTGGTGGATAC
R
TTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATACATAAATACCTAAGATAAAGTTCATCT
Celera SNP ID:                hCV31784038
SNP Position Transcript:      5332
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Context              (SEQ ID NO:2278):
CCTTATCCCTTATGCTTGGTGGATACGTTCTTAGACCCCAAGTGGATCTCTGAGACCGCAGATGGTACCAAACCTCATATATGCAATATTTTTTCCTATA
Y
ATAAATACCTAAGATAAAGTTCATCTTCTGAATTAGGCACAGTAAGAGATTAA
Celera SNP ID:                hCV31784039
SNP Position Transcript:      5406
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:380, None



Gene Number:                  52
Celera Gene:                  hCG27420 - 104000116883218
Celera Transcript:            hCT18560 - 104000116883219
Public Transcript Accession:  NM_006611
Celera Protein:               hCP42994 - 197000069433244
Public Protein Accession:     NP_006602
Gene Symbol:                  KLRA1
Protein Name:                  killer cell lectin-like receptor subfamily A, member 1
Celera Genomic Axis:          GA_x5YUV32W45C(998133..1021269)
Chromosome:                   12
OMIM NUMBER:                  604274
OMIM Information:


Transcript Sequence  (SEQ ID NO:120):
CTGCCTTTCATGTTATAGCCCCTAAGGGATCCAGGACCCGAAAGGCCAGCTTCTCCCTCATTTTGAAATCAGTTTTCTCCACCTGCACCACTGCATAGCA
CAGATACAGAAACCATCCTATTTCAGGATTTGAATGCAAAACTTACCTTCTTACTCTAAAGATGAATGATCAGGGAGAGATTTATTCAACCCTGAGATTT
TTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTTTCAGTGCCCTGGCACCTCA
TTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCAAGAAAAACATCAACGGCA
GGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTC
AAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATA
CAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCA
ACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTA
AGATATTGAAGACAGGCTGGAGCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGTAAG
TGGAAATGGATTGATAATGGCACATCTCCTGGAATTAATTCTACAATAATGCGTTTTTCTTCTGGGAGAGGAGAATGTGCATTTTTGACCTCAACAAGAA
TGGCAACTATTGATTGCATTCAAACGTACAATTGTATCTGTGGGAAGAGAATAGACTCTATTTTCTCTGATTCGGTGTGCGCCAAGAAGAAAAGGTGAAA
ATGGAATGTTTTCTTTTTTTGTTTCCCATAATAATTTCTGATTATAAATCATTGCTTTTAACTGTGGGACTTAGTTAATTCTTCAAAAGATAAAGATGAA
CAGGAAGAAAAAGAAAATTATTTTGGACTATGACTTTAAAGATCAGATGCCATCTTTCTTCCTGGAGAAGAGGAGATTTTCTCTTTTGAGAGTGGTTGTT
CCTTCCTTTAATGTCCCTGAGGAATTATTCATTCTTTCTAATTCTCAGAACTACCTATACAACCAGTTAGAGAACTCTGATATTATATCCTGGGTCTTTT
TTCTTATCAATAGGATAAATCATTCCAGCATCTTCTGGTTTTGAAAGCAGTTGTGAACT


Protein Sequence     (SEQ ID NO:381):
MNDQGEIYSTLRFLQSPSESQNRLRPDDTQRPGKTDDKEFSVPWHLIAVTLGILCLLLLMIVTVLVTNIFQCIQEKHQRQEILRNCSEKYIMQNDNYLKE
QILTNKTLKYDVLKNSFQQKKELDSRLIQKNRCHRENEIVFKVLQNTGKFSEDHGSCCGVNCYYFTMQKKDWKGCKQTCQHCRSSLLKIDDKDELVFYIH
FYSLGLCFSMLDLRY*



SNP Information


Context              (SEQ ID NO:2279):
CATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAAT
W
TGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTT
Celera SNP ID:                hCV1666360
SNP Position Transcript:      490
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,8|T,8) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
; no_pop(A,190|T,50)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 110,(Y,TAT) (F,TTT)



Context              (SEQ ID NO:2280):
GCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCA
Y
GCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGG
Celera SNP ID:                hCV31376674
SNP Position Transcript:      537
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 126,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2281):
AAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATT
R
TAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTAAGATAT
Celera SNP ID:                hCV25607188
SNP Position Transcript:      706
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 182,(C,TGT) (Y,TAT)



Context              (SEQ ID NO:2282):
GACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATC
R
TTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAA
Celera SNP ID:                hCV1666361
SNP Position Transcript:      579
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,19|A,19)  african american(G,20|A,8)  total(G,39|A,27)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 140,(V,GTT) (I,ATT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,2418|A,542) ; no_pop(G,14|A,8) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 140,(V,GTT) (I,ATT)



Context              (SEQ ID NO:2283):
TTATTCAACCCTGAGATTTTTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTT
Y
CAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCA
Celera SNP ID:                hCV22272440
SNP Position Transcript:      282
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 41,(S,TCA) (P,CCA)



Context              (SEQ ID NO:2284):
AAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTC
R
GTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACA
Celera SNP ID:                hCV22271827
SNP Position Transcript:      373
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,6|A,18)  total(G,6|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 71,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 71,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2285):
GTCAACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGA
S
CTAAGATATTGAAGACAGGCTGGAGCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGT
Celera SNP ID:                hCV25607178
SNP Position Transcript:      797
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 212,(D,GAC) (E,GAG)



Context              (SEQ ID NO:2286):
AGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATT
Y
TACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTAC
Celera SNP ID:                hCV16290410
SNP Position Transcript:      655
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:381, 165,(F,TTT) (S,TCT)



Context              (SEQ ID NO:2287):
TGATGACAAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAAT
R
TCTTTCAGTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGAT
Celera SNP ID:                hCV25607202
SNP Position Transcript:      366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:381, None



Context              (SEQ ID NO:2288):
TGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTAAGATATTGAAGACAGGCTGG
W
GCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGTAAGTGGAAATGGATTGATAATGGC
Celera SNP ID:                hCV25607190
SNP Position Transcript:      821
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,38)  african american(T,2|A,36)  total(T,2|A,74)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:381, None



Gene Number:                  52
Celera Gene:                  hCG27420 - 104000116883218
Celera Transcript:            hCT1962896 - 104000116883230
Public Transcript Accession:
Celera Protein:               hCP1777131 - 197000069433246
Public Protein Accession:
Gene Symbol:                  KLRA1
Protein Name:                  killer cell lectin-like receptor subfamily A, member 1
Celera Genomic Axis:          GA_x5YUV32W45C(998133..1021269)
Chromosome:                   12
OMIM NUMBER:                  604274
OMIM Information:


Transcript Sequence  (SEQ ID NO:121):
CTGCCTTTCATGTTATAGCCCCTAAGGGATCCAGGACCCGAAAGGCCAGCTTCTCCCTCATTTTGAAATCAGTTTTCTCCACCTGCACCACTGCATAGCA
CAGATACAGAAACCATCCTATTTCAGGATTTGAATGCAAAACTTACCTTCTTACTCTAAAGATGAATGATCAGGGAGAGATTTATTCAACCCTGAGATTT
TTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTTTCAGTGCCCTGGCACCTCA
TTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCAAGAAAAACATCAACGGCA
GGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTC
AAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATA
CAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCA
ACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATAT
GATGAAAGGGAAAGTAAGTGGAAATGGATTGATAATGGCACATCTCCTGGAATTAATTCTACAATAATGCGTTTTTCTTCTGGGAGAGGAGAATGTGCAT
TTTTGACCTCAACAAGAATGGCAACTATTGATTGCATTCAAACGTACAATTGTATCTGTGGGAAGAGAATAGACTCTATTTTCTCTGATTCGGTGTGCGC
CAAGAAGAAAAGGTGAAAATGGAATGTTTTCTTTTTTTGTTTCCCATAATAATTTCTGATTATAAATCATTGCTTTTAACTGTGGGACTTAGTTAATTCT
TCAAAAGATAAAGATGAACAGGAAGAAAAAGAAAATTATTTTGGACTATGACTTTAAAGATCAGATGCCATCTTTCTTCCTGGAGAAGAGGAGATTTTCT
CTTTTGAGAGTGGTTGTTCCTTCCTTTAATGTCCCTGAGGAATTATTCATTCTTTCTAATTCTCAGAACTACCTATACAACCAGTTAGAGAACTCTGATA
TTATATCCTGGGTCTTTTTTCTTATCAATAGGATAAATCATTCCAGCATCTTCTGGTTTTGAAAGCAGTTGTGAACT


Protein Sequence     (SEQ ID NO:382):
MNDQGEIYSTLRFLQSPSESQNRLRPDDTQRPGKTDDKEFSVPWHLIAVTLGILCLLLLMIVTVLVTNIFQCIQEKHQRQEILRNCSEKYIMQNDNYLKE
QILTNKTLKYDVLKNSFQQKKELDSRLIQKNRCHRENEIVFKVLQNTGKFSEDHGSCCGVNCYYFTMQKKDWKGCKQTCQHCRSSLLKIDDKDELAFIQS
QIYENNYWIGLSYDERESKWKWIDNGTSPGINSTIMRFSSGRGECAFLTSTRMATIDCIQTYNCICGKRIDSIFSDSVCAKKKR*



SNP Information


Context              (SEQ ID NO:2289):
CATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAAT
W
TGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTT
Celera SNP ID:                hCV1666360
SNP Position Transcript:      490
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,8|T,8) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
; no_pop(A,190|T,50)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 110,(Y,TAT) (F,TTT)



Context              (SEQ ID NO:2290):
GCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCA
Y
GCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGG
Celera SNP ID:                hCV31376674
SNP Position Transcript:      537
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 126,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2291):
AAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATT
R
TAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAA
Celera SNP ID:                hCV25607188
SNP Position Transcript:      706
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 182,(C,TGT) (Y,TAT)



Context              (SEQ ID NO:2292):
GACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATC
R
TTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAA
Celera SNP ID:                hCV1666361
SNP Position Transcript:      579
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,19|A,19)  african american(G,20|A,8)  total(G,39|A,27)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 140,(V,GTT) (I,ATT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,2418|A,542) ; no_pop(G,14|A,8) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 140,(V,GTT) (I,ATT)



Context              (SEQ ID NO:2293):
TTATTCAACCCTGAGATTTTTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTT
Y
CAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCA
Celera SNP ID:                hCV22272440
SNP Position Transcript:      282
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 41,(S,TCA) (P,CCA)



Context              (SEQ ID NO:2294):
AAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTC
R
GTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACA
Celera SNP ID:                hCV22271827
SNP Position Transcript:      373
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,6|A,18)  total(G,6|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 71,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 71,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2295):
AGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATT
Y
TACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGCCTTCATT
Celera SNP ID:                hCV16290410
SNP Position Transcript:      655
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:382, 165,(F,TTT) (S,TCT)



Context              (SEQ ID NO:2296):
TGATGACAAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAAT
R
TCTTTCAGTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGAT
Celera SNP ID:                hCV25607202
SNP Position Transcript:      366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:382, None



Gene Number:                  52
Celera Gene:                  hCG27420 - 104000116883218
Celera Transcript:            hCT2298195 - 104000116883241
Public Transcript Accession:  NM_006611
Celera Protein:               hCP1889983 - 197000069433247
Public Protein Accession:     NP_006602
Gene Symbol:                  KLRA1
Protein Name:                  killer cell lectin-like receptor subfamily A, member 1
Celera Genomic Axis:          GA_x5YUV32W45C(998133..1021269)
Chromosome:                   12
OMIM NUMBER:                  604274
OMIM Information:


Transcript Sequence  (SEQ ID NO:122):
CTGCCTTTCATGTTATAGCCCCTAAGGGATCCAGGACCCGAAAGGCCAGCTTCTCCCTCATTTTGAAATCAGTTTTCTCCACCTGCACCACTGCATAGCA
CAGATACAGAAACCATCCTATTTCAGGATTTGAATGCAAAACTTACCTTCTTACTCTAAAGATGAATGATCAGGGAGAGATTTATTCAACCCTGAGATTT
TTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTTTCAGTGCCCTGGCACCTCA
TTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCAAGAAAAACATCAACGGCA
GGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTC
AAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATA
CAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCA
ACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTA
AGATATTGAAGACAGGCTGGAGCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGTAAG
TGGAAATGGATTGATAATGGCACATCTCCTGGAATTAATTCTACAATAATGCGTTTTTCTTCTGGGAGAGGAGAATGTGCATTTTTGACCTCAACAAGAA
TGGCAACTATTGATTGCATTCAAACGTACAATTGTATCTGTGGGAAGAGAATAGACTCTATTTTCTCTGATTCGGTGTGCGCCAAGAAGAAAAGGTGAAA
ATGGAATGTTTTCTTTTTTTGTTTCCCATAATAATTTCTGATTATAAATCATTGCTTTTAACTGTGGGACTTAGTTAATTCTTCAAAAGATAAAGATGAA
CAGGAAGAAAAAGAAAATTATTTTGGACTATGACTTTAAAGATCAGATGCCATCTTTCTTCCTGGAGAAGAGGAGATTTTCTCTTTTGAGAGTGGTTGTT
CCTTCCTTTAATGTCCCTGAGGAATTATTCATTCTTTTCCAGCATCTTCTGGTTTTGAAAGCAGTTGTGAACTAGAATGTAGTTATTTTTTTCTTCCCAT
CTAGAAGTTACCTCATCTTTTAAAACATTTGTTTTGCTACAAAATATAACTTCAAACTTACTGAAAGTTGCAAGCATAGTACAAGGAACTTCTATATAAC
CTTTACTCATACTTACTAGTTGTTTATATTTTGCTCTGCTTTATATTTCTCTCTTTCTATCTTCCACTTAATAATAAATTGAGGACTTCATGTCCCTTTG
TCTAAATATTTTCCAAGATCAAGGGCTTTGTTTTATATAATCACAGTGCAATTATCAAACTCAGGAAATTTAGCATTAGTACAGTACTATGATCTAATCT
GTAATCCATGTTCAAATTTTGTCAATTGTCCCAATAATGCCATTTATGTGTATTTCTTAAAAATCCATGTTCAGGATAATTCAATGCATTTGATTGTAAT
GTCTCTTTAGTCTTCTTTAATCTGAAACAGTTCTTTAGGCTTTTTCTTGACCTTGACATTTTAAAAATTAACTTTATTGAGTTATACTTTTCATGCAATA
AA


Protein Sequence     (SEQ ID NO:383):
MNDQGEIYSTLRFLQSPSESQNRLRPDDTQRPGKTDDKEFSVPWHLIAVTLGILCLLLLMIVTVLVTNIFQCIQEKHQRQEILRNCSEKYIMQNDNYLKE
QILTNKTLKYDVLKNSFQQKKELDSRLIQKNRCHRENEIVFKVLQNTGKFSEDHGSCCGVNCYYFTMQKKDWKGCKQTCQHCRSSLLKIDDKDELVFYIH
FYSLGLCFSMLDLRY*



SNP Information


Context              (SEQ ID NO:2297):
CATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAAT
W
TGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTT
Celera SNP ID:                hCV1666360
SNP Position Transcript:      490
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,8|T,8) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
; no_pop(A,190|T,50)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 110,(Y,TAT) (F,TTT)



Context              (SEQ ID NO:2298):
GCAAAATGACAACTACTTAAAAGAGCAGATTTTGACAAATAAGACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCA
Y
GCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGG
Celera SNP ID:                hCV31376674
SNP Position Transcript:      537
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 126,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2299):
AAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATT
R
TAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTAAGATAT
Celera SNP ID:                hCV25607188
SNP Position Transcript:      706
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 182,(C,TGT) (Y,TAT)



Context              (SEQ ID NO:2300):
GACTTTAAAATATGACGTTCTCAAAAATAGCTTTCAGCAGAAAAAGGAACTGGATTCACGCCTTATACAAAAGAACAGATGTCATAGAGAAAATGAGATC
R
TTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATTTTACCATGCAGAAGAAAGACTGGAA
Celera SNP ID:                hCV1666361
SNP Position Transcript:      579
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,19|A,19)  african american(G,20|A,8)  total(G,39|A,27)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 140,(V,GTT) (I,ATT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,2418|A,542) ; no_pop(G,14|A,8) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 140,(V,GTT) (I,ATT)



Context              (SEQ ID NO:2301):
TTATTCAACCCTGAGATTTTTGCAGTCTCCTTCAGAGTCACAGAATAGATTAAGGCCTGATGATACTCAAAGGCCTGGGAAAACTGATGACAAAGAATTT
Y
CAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTCAGTGTATTCA
Celera SNP ID:                hCV22272440
SNP Position Transcript:      282
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 41,(S,TCA) (P,CCA)



Context              (SEQ ID NO:2302):
AAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAATATCTTTC
R
GTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGATTTTGACA
Celera SNP ID:                hCV22271827
SNP Position Transcript:      373
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,6|A,18)  total(G,6|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 71,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 71,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2303):
GTCAACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGA
S
CTAAGATATTGAAGACAGGCTGGAGCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGT
Celera SNP ID:                hCV25607178
SNP Position Transcript:      797
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 212,(D,GAC) (E,GAG)



Context              (SEQ ID NO:2304):
AGATGTCATAGAGAAAATGAGATCGTTTTTAAAGTTTTGCAAAATACAGGCAAATTCTCTGAAGACCACGGGTCCTGTTGTGGAGTAAACTGTTATTATT
Y
TACCATGCAGAAGAAAGACTGGAAGGGATGTAAACAGACTTGTCAACATTGTAGATCATCCCTTTTGAAGATAGATGACAAAGATGAACTCGTATTTTAC
Celera SNP ID:                hCV16290410
SNP Position Transcript:      655
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:383, 165,(F,TTT) (S,TCT)



Context              (SEQ ID NO:2305):
TGATGACAAAGAATTTTCAGTGCCCTGGCACCTCATTGCAGTGACTCTTGGGATCCTCTGTTTACTTCTTCTGATGATAGTCACAGTGTTGGTGACAAAT
R
TCTTTCAGTGTATTCAAGAAAAACATCAACGGCAGGAAATTCTAAGAAACTGTAGTGAAAAGTACATCATGCAAAATGACAACTACTTAAAAGAGCAGAT
Celera SNP ID:                hCV25607202
SNP Position Transcript:      366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:383, None



Context              (SEQ ID NO:2306):
TGAAGATAGATGACAAAGATGAACTCGTATTTTACATTCACTTTTATTCTCTTGGACTCTGTTTCTCAATGTTGGACCTAAGATATTGAAGACAGGCTGG
W
GCCCAGAGCCTTCATTCAATCTCAGATTTATGAAAATAATTACTGGATTGGATTATCATATGATGAAAGGGAAAGTAAGTGGAAATGGATTGATAATGGC
Celera SNP ID:                hCV25607190
SNP Position Transcript:      821
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,38)  african american(T,2|A,36)  total(T,2|A,74)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:383, None



Context              (SEQ ID NO:2307):
GCAATTATCAAACTCAGGAAATTTAGCATTAGTACAGTACTATGATCTAATCTGTAATCCATGTTCAAATTTTGTCAATTGTCCCAATAATGCCATTTAT
R
TGTATTTCTTAAAAATCCATGTTCAGGATAATTCAATGCATTTGATTGTAATGTCTCTTTAGTCTTCTTTAATCTGAAACAGTTCTTTAGGCTTTTTCTT
Celera SNP ID:                hCV11355768
SNP Position Transcript:      1748
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3|A,2) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:383, None



Gene Number:                  53
Celera Gene:                  hCG27643 - 62000133384069
Celera Transcript:            hCT18784 - 62000133384087
Public Transcript Accession:  NM_004396
Celera Protein:               hCP43680 - 197000064924833
Public Protein Accession:     NP_004387
Gene Symbol:                  DDX5
Protein Name:                  DEAD (Asp-Glu-Ala-Asp) box polypeptide 5
Celera Genomic Axis:          GA_x5YUV32W3KM(353933..374581)
Chromosome:                   17
OMIM NUMBER:                  180630
OMIM Information:


Transcript Sequence  (SEQ ID NO:123):
CAGGACGTGAAACGGGGGCGGTTTGGGAAGTTTAGAGACCATTCTCCGCCGACCAAAACCCGTCAAAGGATTATCAGACACGCGGGTCGGACGGTCCACA
TCAGCCGGCAGCCCGGGCGGGTCCCGGGGTGCGAGCAGCGCACTTCCGTAGTGCAGCTTCGGCTGGTGTCATCGGTGTCCTTCCTCCGCTGCCGCCCCCG
CAAGGCTTCGCCGTCATCGAGGCCATTTCCAGCGACTTGTCGCACGCTTTTCTATATACTTCGTTCCCCGCCAACCGCAACCATTGACGCCATGTCGGGT
TATTCGAGTGACCGAGACCGCGGCCGGGACCGAGGGTTTGGTGCACCTCGATTTGGAGGAAGTAGGGCAGGGCCCTTATCTGGAAAGAAGTTTGGAAACC
CTGGGGAGAAATTAGTTAAAAAGAAGTGGAATCTTGATGAGCTGCCTAAATTTGAGAAGAATTTTTATCAAGAGCACCCTGATTTGGCTAGGCGCACAGC
ACAAGAGGTGGAAACATACAGAAGAAGCAAGGAAATTACAGTTAGAGGTCACAACTGCCCGAAGCCAGTTCTAAATTTTTATGAAGCCAATTTCCCTGCA
AATGTCATGGATGTTATTGCAAGACAGAATTTCACTGAACCCACTGCTATTCAAGCTCAGGGATGGCCAGTTGCTCTAAGTGGATTGGATATGGTTGGAG
TGGCACAGACTGGATCTGGGAAAACATTGTCTTATTTGCTTCCTGCCATTGTCCACATCAATCATCAGCCATTCCTAGAGAGAGGCGATGGGCCTATTTG
TTTGGTGCTGGCACCAACTCGGGAACTGGCCCAACAGGTGCAGCAAGTAGCTGCTGAATATTGTAGAGCATGTCGCTTGAAGTCTACTTGTATCTACGGT
GGTGCTCCTAAGGGACCACAAATACGTGATTTGGAGAGAGGTGTGGAAATCTGTATTGCAACACCTGGAAGACTGATTGACTTTTTAGAGTGTGGAAAAA
CCAATCTGAGAAGAACAACCTACCTTGTCCTTGATGAAGCAGATAGAATGCTTGATATGGGCTTTGAACCCCAAATAAGGAAGATTGTGGATCAAATAAG
ACCTGATAGGCAAACTCTAATGTGGAGTGCGACTTGGCCAAAAGAAGTAAGACAGCTTGCTGAAGATTTCCTGAAAGACTATATTCATATAAACATTGGT
GCACTTGAACTGAGTGCAAACCACAACATTCTTCAGATTGTGGATGTGTGTCATGACGTAGAAAAGGATGAAAAACTTATTCGTCTAATGGAAGAGATCA
TGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAACCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGAGGAGAGATGGGTGGCCTGCCATGGG
TATCCATGGTGACAAGAGTCAACAAGAGCGTGACTGGGTTCTAAATGAATTCAAACATGGAAAAGCTCCTATTCTGATTGCTACAGATGTGGCCTCCAGA
GGGCTAGATGTGGAAGATGTGAAATTTGTCATCAATTATGACTACCCTAACTCCTCAGAGGATTATATTCATCGAATTGGAAGAACTGCTCGCAGTACCA
AAACAGGCACAGCATACACTTTCTTTACACCTAATAACATAAAGCAAGTGAGCGACCTTATCTCTGTGCTTCGTGAAGCTAATCAAGCAATTAATCCCAA
GTTGCTTCAGTTGGTCGAAGACAGAGGTTCAGGTCGTTCCAGGGGTAGAGGAGGCATGAAGGATGACCGTCGGGACAGATACTCTGCGGGCAAAAGGGGT
GGATTTAATACCTTTAGAGACAGGGAAAATTATGACAGAGGTTACTCTAGCCTGCTTAAAAGAGATTTTGGGGCAAAAACTCAGAATGGTGTTTACAGTG
CTGCAAATTACACCAATGGGAGCTTTGGAAGTAATTTTGTGTCTGCTGGTATACAGACCAGTTTTAGGACTGGTAATCCAACAGGGACTTACCAGAATGG
TTATGATAGCACTCAGCAATACGGAAGTAATGTTCCAAATATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATG
ATTGGTTATCCAATGCCAACAGGATATTCCCAATAAGACTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGA
CAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAATGACTGCAGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTAC
ATTCCTGAAACAATTTTTAGGTTTTTTTTGTACTAGAAAATGCAGGCAGTGTTTTCACAAAAGTAAATGTACAGTGATTTGAAATACAATAAATGAAGGC
AATGCATGGCCTTCCAATAAAAAATATTTGAAGACTGAATTAAGTGGAAATTGTACTTTATTTTATATAATGTCATGTAAAACTTTGCTAGTATGGTTAA
ATGAGAAAATAGTAAAATAGATACAAAGTCATCTATATAGTGTGAGAACGTGGGTGACTTTTTCAAAGTTTATAATTTAAAAAGCTCCAAATAACTGGCT
TTTTCAAGAGACTTATACTCATGCTCTTGGCTATACTGTGAATTACTGAAATGTTGAACAAACCTGTGAAAGACATACATTAGCCCTTTAAGATGGCCAG
GAGCTAAGCTTGAGTCTCCTTTACTGAATTTCGTTCTTAGTGCAGGTTACTTGTAGATTCTAGTCTTCACAGGCTCCCTGGGGCTCTTAACTAGTCACAC
TGGGAGTCATGAATGTCTTTCCAATAATTCAGGGAATTCTAGAGATCCTCAAACTGTAAGGTCTATTCATACTCAACACAAGGAAAAAACCTCATTAAAA
TTAATGACTAATCAGGAGGCAACGTAACCAAAAGCACAGTGAATGAAAGTTTTCATGGTAGGTTCAACATGGGTTTATTGCTAGAAAGATCCAGGGGATA
GCTTTAGGTTTAACTTCGGCTCACCAACGTAACTTTCTAATCATTTATTTCAGTAATAGCTAGAAGTGGGTCTGAATGTTTTCCCAGAGTCTGATACGTG
TTTTTTTTTGCCAGAAGAGAGGTCTTCAGGAGACTTCATTTAAATTCTGATTATTAAACTGAGGCTTTAATTGATGTTAATGCCTTATGTCAAATGTAAA
GTTAGAATTTGCTAGGGCTGGGATAGGGAGTGATATTTCTAGGACTTAGACATTGAAAACTAATTCAGCCTGTAGTAACCTGGATGGTTTTCAATGGCAT
GGTTAGTCAAATTCATGGTTTTAAACTTAGAAGCAGCTTTCGGGGGAGAGGGTAGGTTGGAGCATTTATTACATATTTTACTGTTTAATGTCTTAACCGT
GGGCCTTTTAATTTGTAAACACTGAAATGATTGTTGGGCTGTGGAAAACATTTACCTATTTACCTTGGAAGTTTTAAAAGACAGTCCACTTTTTAGCATG
TGTGTTGTGTCCAGCCTGTGGTCGTCTTAACTAATAAATGTGATTTTTCTCCCCATT


Protein Sequence     (SEQ ID NO:384):
MSGYSSDRDRGRDRGFGAPRFGGSRAGPLSGKKFGNPGEKLVKKKWNLDELPKFEKNFYQEHPDLARRTAQEVETYRRSKEITVRGHNCPKPVLNFYEAN
FPANVMDVIARQNFTEPTAIQAQGWPVALSGLDMVGVAQTGSGKTLSYLLPAIVHINHQPFLERGDGPICLVLAPTRELAQQVQQVAAEYCRACRLKSTC
IYGGAPKGPQIRDLERGVEICIATPGRLIDFLECGKTNLRRTTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQLAEDFLKDYIHI
NIGALELSANHNILQIVDVCHDVEKDEKLIRLMEEIMSEKENKTIVFVETKRRCDELTRKMRRDGWPAMGIHGDKSQQERDWVLNEFKHGKAPILIATDV
ASRGLDVEDVKFVINYDYPNSSEDYIHRIGRTARSTKTGTAYTFFTPNNIKQVSDLISVLREANQAINPKLLQLVEDRGSGRSRGRGGMKDDRRDRYSAG
KRGGFNTFRDRENYDRGYSSLLKRDFGAKTQNGVYSAANYTNGSFGSNFVSAGIQTSFRTGNPTGTYQNGYDSTQQYGSNVPNMHNGMNQQAYAYPATAA
APMIGYPMPTGYSQ*



SNP Information


Context              (SEQ ID NO:2308):
AAATTAGTTAAAAAGAAGTGGAATCTTGATGAGCTGCCTAAATTTGAGAAGAATTTTTATCAAGAGCACCCTGATTTGGCTAGGCGCACAGCACAAGAGG
Y
GGAAACATACAGAAGAAGCAAGGAAATTACAGTTAGAGGTCACAACTGCCCGAAGCCAGTTCTAAATTTTTATGAAGCCAATTTCCCTGCAAATGTCATG
Celera SNP ID:                hCV25749997
SNP Position Transcript:      509
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,37|C,1)  total(T,75|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:384, 73,(V,GTG) (A,GCG)



Context              (SEQ ID NO:2309):
GAAAAACCAATCTGAGAAGAACAACCTACCTTGTCCTTGATGAAGCAGATAGAATGCTTGATATGGGCTTTGAACCCCAAATAAGGAAGATTGTGGATCA
R
ATAAGACCTGATAGGCAAACTCTAATGTGGAGTGCGACTTGGCCAAAAGAAGTAAGACAGCTTGCTGAAGATTTCCTGAAAGACTATATTCATATAAACA
Celera SNP ID:                hCV25753463
SNP Position Transcript:      1095
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,35)  total(G,1|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:384, 268,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:2310):
TTGGTGCACTTGAACTGAGTGCAAACCACAACATTCTTCAGATTGTGGATGTGTGTCATGACGTAGAAAAGGATGAAAAACTTATTCGTCTAATGGAAGA
K
ATCATGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAACCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGAGGAGAGATGGGTGGCCTGCCA
Celera SNP ID:                hCV29610625
SNP Position Transcript:      1296
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:384, 335,(E,GAG) (D,GAT)



Context              (SEQ ID NO:2311):
CAGGACGTGAAACGGGGGCGGTTTGGGAAGTTTAGAGACCATTCTCCGCCGACCAAAACCC
S
TCAAAGGATTATCAGACACGCGGGTCGGACGGTCCACATCAGCCGGCAGCCCGGGCGGGTCCCGGGGTGCGAGCAGCGCACTTCCGTAGTGCAGCTTCGG
Celera SNP ID:                hCV16069640
SNP Position Transcript:      62
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:384, None



Context              (SEQ ID NO:2312):
GCAATACGGAAGTAATGTTCCAAATATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATGATTGGTTATCCAATG
Y
CAACAGGATATTCCCAATAAGACTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAA
Celera SNP ID:                hDV69170450
SNP Position Transcript:      2116
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:384, 609,(P,CCA) (S,TCA)



Context              (SEQ ID NO:2313):
CTTATTCGTCTAATGGAAGAGATCATGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAACCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGA
R
GAGAGATGGGTGGCCTGCCATGGGTATCCATGGTGACAAGAGTCAACAAGAGCGTGACTGGGTTCTAAATGAATTCAAACATGGAAAAGCTCCTATTCTG
Celera SNP ID:                hCV2414998
SNP Position Transcript:      1376
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,528) ; no_pop(A,-|G,168)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:384, 362,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2314):
ACCTAATAACATAAAGCAAGTGAGCGACCTTATCTCTGTGCTTCGTGAAGCTAATCAAGCAATTAATCCCAAGTTGCTTCAGTTGGTCGAAGACAGAGGT
K
CAGGTCGTTCCAGGGGTAGAGGAGGCATGAAGGATGACCGTCGGGACAGATACTCTGCGGGCAAAAGGGGTGGATTTAATACCTTTAGAGACAGGGAAAA
Celera SNP ID:                hCV7450990
SNP Position Transcript:      1729
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,172|G,12) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:384, 480,(S,TCA) (A,GCA)



Context              (SEQ ID NO:2315):
AATATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATGATTGGTTATCCAATGCCAACAGGATATTCCCAATAAG
M
CTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAAT
Celera SNP ID:                hCV32325037
SNP Position Transcript:      2138
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:384, None



Context              (SEQ ID NO:2316):
CAATGCCAACAGGATATTCCCAATAAGACTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTT
R
TTTAAGAAACATGGGAATTGCAGAAATGACTGCAGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTACATTCCTGAAAC
Celera SNP ID:                hCV11418012
SNP Position Transcript:      2211
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:384, None



Context              (SEQ ID NO:2317):
GAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAATGACTG
Y
AGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTACATTCCTGAAACAATTTTTAGGTTTTTTTTGTACTAGAAAATGCA
Celera SNP ID:                hCV7450989
SNP Position Transcript:      2244
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:384, None



Context              (SEQ ID NO:2318):
TTTCCAATAATTCAGGGAATTCTAGAGATCCTCAAACTGTAAGGTCTATTCATACTCAACACAAGGAAAAAACCTCATTAAAATTAATGACTAATCAGGA
R
GCAACGTAACCAAAAGCACAGTGAATGAAAGTTTTCATGGTAGGTTCAACATGGGTTTATTGCTAGAAAGATCCAGGGGATAGCTTTAGGTTTAACTTCG
Celera SNP ID:                hCV30530223
SNP Position Transcript:      2918
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:384, None



Gene Number:                  53
Celera Gene:                  hCG27643 - 62000133384069
Celera Transcript:            hCT1971014 - 62000133384070
Public Transcript Accession:  NM_004396
Celera Protein:               hCP1783369 - 197000064924832
Public Protein Accession:     NP_004387
Gene Symbol:                  DDX5
Protein Name:                  DEAD (Asp-Glu-Ala-Asp) box polypeptide 5
Celera Genomic Axis:          GA_x5YUV32W3KM(353933..374581)
Chromosome:                   17
OMIM NUMBER:                  180630
OMIM Information:


Transcript Sequence  (SEQ ID NO:124):
AGGTCATAGAGCGGCTCCCAGCGTTCCCTGCGGCGTAGGAGGCGGTCCAGACTACAAAAGCGGCTGCCGGAAAGCGGCCGGCACCTCATTCATTTCTACC
GGTCTCTAGTAGTGCAGCTTCGGCTGGTGTCATCGGTGTCCTTCCTCCGCTGCCGCCCCCGCAAGGCTTCGCCGTCATCGAGGCCATTTCCAGCGACTTG
TCGCACGCTTTTCTATATACTTCGTTCCCCGCCAACCGCAACCATTGACGCCATGTCGGGTTATTCGAGTGACCGAGACCGCGGCCGGGACCGAGGGTTT
GGTGCACCTCGATTTGGAGGAAGTAGGGCAGGGCCCTTATCTGGAAAGAAGTTTGGAAACCCTGGGGAGAAATTAGTTAAAAAGAAGTGGAATCTTGATG
AGCTGCCTAAATTTGAGAAGAATTTTTATCAAGAGCACCCTGATTTGGCTAGGCGCACAGCACAAGAGGTGGAAACATACAGAAGAAGCAAGGAAATTAC
AGTTAGAGGTCACAACTGCCCGAAGCCAGTTCTAAATTTTTATGAAGCCAATTTCCCTGCAAATGTCATGGATGTTATTGCAAGACAGAATTTCACTGAA
CCCACTGCTATTCAAGCTCAGGGATGGCCAGTTGCTCTAAGTGGATTGGATATGGTTGGAGTGGCACAGACTGGATCTGGGAAAACATTGTCTTATTTGC
TTCCTGCCATTGTCCACATCAATCATCAGCCATTCCTAGAGAGAGGCGATGGGCCTATTTGTTTGGTGCTGGCACCAACTCGGGAACTGGCCCAACAGGT
GCAGCAAGTAGCTGCTGAATATTGTAGAGCATGTCGCTTGAAGTCTACTTGTATCTACGGTGGTGCTCCTAAGGGACCACAAATACGTGATTTGGAGAGA
GGTGTGGAAATCTGTATTGCAACACCTGGAAGACTGATTGACTTTTTAGAGTGTGGAAAAACCAATCTGAGAAGAACAACCTACCTTGTCCTTGATGAAG
CAGATAGAATGCTTGATATGGGCTTTGAACCCCAAATAAGGAAGATTGTGGATCAAATAAGACCTGATAGGCAAACTCTAATGTGGAGTGCGACTTGGCC
AAAAGAAGTAAGACAGCTTGCTGAAGATTTCCTGAAAGACTATATTCATATAAACATTGGTGCACTTGAACTGAGTGCAAACCACAACATTCTTCAGATT
GTGGATGTGTGTCATGACGTAGAAAAGGATGAAAAACTTATTCGTCTAATGGAAGAGATCATGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAA
CCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGAGGAGAGATGGGTGGCCTGCCATGGGTATCCATGGTGACAAGAGTCAACAAGAGCGTGACTGGGT
TCTAAATGAATTCAAACATGGAAAAGCTCCTATTCTGATTGCTACAGATGTGGCCTCCAGAGGGCTAGATGTGGAAGATGTGAAATTTGTCATCAATTAT
GACTACCCTAACTCCTCAGAGGATTATATTCATCGAATTGGAAGAACTGCTCGCAGTACCAAAACAGGCACAGCATACACTTTCTTTACACCTAATAACA
TAAAGCAAGTGAGCGACCTTATCTCTGTGCTTCGTGAAGCTAATCAAGCAATTAATCCCAAGTTGCTTCAGTTGGTCGAAGACAGAGGTTCAGGTCGTTC
CAGGGGTAGAGGAGGCATGAAGGATGACCGTCGGGACAGATACTCTGCGGGCAAAAGGGGTGGATTTAATACCTTTAGAGACAGGGAAAATTATGACAGA
GGTTACTCTAGCCTGCTTAAAAGAGATTTTGGGGCAAAAACTCAGAATGGTGTTTACAGTGCTGCAAATTACACCAATGGGAGCTTTGGAAGTAATTTTG
TGTCTGCTGGTATACAGACCAGTTTTAGGACTGGTAATCCAACAGGGACTTACCAGAATGGTTATGATAGCACTCAGCAATACGGAAGTAATGTTCCAAA
TATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATGATTGGTTATCCAATGCCAACAGGATATTCCCAATAAGAC
TTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAATG
ACTGCAGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTACATTCCTGAAACAATTTTTAGGTTTTTTTTGTACTAGAAA
ATGCAGGCAGTGTTTTCACAAAAGTAAATGTACAGTGATTTGAAATACAATAAATGAAGGCAATGCATGGCCTTCCAATAAAAAATATTTGAAGACTGAA
TTAAGTGGAAATTGTACTTTATTTTATATAATGTCATGTAAAACTTTGCTTAAGATGGTCTGGTTTTTTTTTTGTTTTTGTTTGGTTTTTTTTTTCCATG
AAAACAAATGACTGTTCCTTTTTATTTAATTTGGGAGGCAGGGGGAATCAGAAGGCCCTTCTTTATAATGAGCTATTCATATTGCAGGAGTCAGAATGAA
TTGATACAGGTGAATTTTTAGTTACAGGCTAAATTGCATAAAAGCTTTGTCAGCTTCCAGCATCAGGGGAGTCATTTAATAGCCTTTTTCCTTATTTGCT
AGTATGGTTAAATGAGAAAATAGTAAAATAGATACAAAGTCATCTATATAGTGTGAGAACGTGGGTGACTTTTTCAAAGTTTATAATTTAAAAAGCTCCA
AATAACTGGCTTTTTCAAGAGACTTATACTCATGCTCTTGGCTATACTGTGAATTACTGAAATGTTGAACAAACCTGTGAAAGACATACATTAGCCCTTT
AAGATGGCCAGGAGCTAAGCTTGAGTCTCCTTTACTGAATTTCGTTCTTAGTGCAGGTTACTTGTAGATTCTAGTCTTCACAGGCTCCCTGGGGCTCTTA
ACTAGTCACACTGGGAGTCATGAATGTCTTTCCAATAA


Protein Sequence     (SEQ ID NO:385):
MSGYSSDRDRGRDRGFGAPRFGGSRAGPLSGKKFGNPGEKLVKKKWNLDELPKFEKNFYQEHPDLARRTAQEVETYRRSKEITVRGHNCPKPVLNFYEAN
FPANVMDVIARQNFTEPTAIQAQGWPVALSGLDMVGVAQTGSGKTLSYLLPAIVHINHQPFLERGDGPICLVLAPTRELAQQVQQVAAEYCRACRLKSTC
IYGGAPKGPQIRDLERGVEICIATPGRLIDFLECGKTNLRRTTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQLAEDFLKDYIHI
NIGALELSANHNILQIVDVCHDVEKDEKLIRLMEEIMSEKENKTIVFVETKRRCDELTRKMRRDGWPAMGIHGDKSQQERDWVLNEFKHGKAPILIATDV
ASRGLDVEDVKFVINYDYPNSSEDYIHRIGRTARSTKTGTAYTFFTPNNIKQVSDLISVLREANQAINPKLLQLVEDRGSGRSRGRGGMKDDRRDRYSAG
KRGGFNTFRDRENYDRGYSSLLKRDFGAKTQNGVYSAANYTNGSFGSNFVSAGIQTSFRTGNPTGTYQNGYDSTQQYGSNVPNMHNGMNQQAYAYPATAA
APMIGYPMPTGYSQ*



SNP Information


Context              (SEQ ID NO:2319):
AAATTAGTTAAAAAGAAGTGGAATCTTGATGAGCTGCCTAAATTTGAGAAGAATTTTTATCAAGAGCACCCTGATTTGGCTAGGCGCACAGCACAAGAGG
Y
GGAAACATACAGAAGAAGCAAGGAAATTACAGTTAGAGGTCACAACTGCCCGAAGCCAGTTCTAAATTTTTATGAAGCCAATTTCCCTGCAAATGTCATG
Celera SNP ID:                hCV25749997
SNP Position Transcript:      470
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,38|C,0)  african american(T,37|C,1)  total(T,75|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:385, 73,(V,GTG) (A,GCG)



Context              (SEQ ID NO:2320):
AGGTCATAGAGCGGCTCCCAGCGTTCCCTGCGGCGTAGGAGGCGGTCCAGACTACAAAAGCGGCTGCCGGAAAGCGGCCGGCACCTCATTCATTTCTAC
S
GGTCTCTAGTAGTGCAGCTTCGGCTGGTGTCATCGGTGTCCTTCCTCCGCTGCCGCCCCCGCAAGGCTTCGCCGTCATCGAGGCCATTTCCAGCGACTTG
Celera SNP ID:                hCV27851854
SNP Position Transcript:      100
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,38)  african american(G,1|C,35)  total(G,1|C,73)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:385, None



Context              (SEQ ID NO:2321):
GAAAAACCAATCTGAGAAGAACAACCTACCTTGTCCTTGATGAAGCAGATAGAATGCTTGATATGGGCTTTGAACCCCAAATAAGGAAGATTGTGGATCA
R
ATAAGACCTGATAGGCAAACTCTAATGTGGAGTGCGACTTGGCCAAAAGAAGTAAGACAGCTTGCTGAAGATTTCCTGAAAGACTATATTCATATAAACA
Celera SNP ID:                hCV25753463
SNP Position Transcript:      1056
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,35)  total(G,1|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:385, 268,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:2322):
TTGGTGCACTTGAACTGAGTGCAAACCACAACATTCTTCAGATTGTGGATGTGTGTCATGACGTAGAAAAGGATGAAAAACTTATTCGTCTAATGGAAGA
K
ATCATGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAACCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGAGGAGAGATGGGTGGCCTGCCA
Celera SNP ID:                hCV29610625
SNP Position Transcript:      1257
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:385, 335,(E,GAG) (D,GAT)



Context              (SEQ ID NO:2323):
AGGTCATAGAGCGGCTCCCAGCGTTCCCTGCGGCGTAGGAGGCGGTCCAGACTA
Y
AAAAGCGGCTGCCGGAAAGCGGCCGGCACCTCATTCATTTCTACCGGTCTCTAGTAGTGCAGCTTCGGCTGGTGTCATCGGTGTCCTTCCTCCGCTGCCG
Celera SNP ID:                hCV11418014
SNP Position Transcript:      55
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|C,18)  african american(T,34|C,2)  total(T,54|C,20)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:385, None

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2004|C,964) ; no_pop(T,-|C,-) ; no_pop(T,536|C,144)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:385, None



Context              (SEQ ID NO:2324):
GCAATACGGAAGTAATGTTCCAAATATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATGATTGGTTATCCAATG
Y
CAACAGGATATTCCCAATAAGACTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAA
Celera SNP ID:                hDV69170450
SNP Position Transcript:      2077
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:385, 609,(P,CCA) (S,TCA)



Context              (SEQ ID NO:2325):
CTTATTCGTCTAATGGAAGAGATCATGAGTGAGAAGGAGAATAAAACCATTGTTTTTGTGGAAACCAAAAGAAGATGTGATGAGCTTACCAGAAAAATGA
R
GAGAGATGGGTGGCCTGCCATGGGTATCCATGGTGACAAGAGTCAACAAGAGCGTGACTGGGTTCTAAATGAATTCAAACATGGAAAAGCTCCTATTCTG
Celera SNP ID:                hCV2414998
SNP Position Transcript:      1337
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,528) ; no_pop(A,-|G,168)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:385, 362,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2326):
ACCTAATAACATAAAGCAAGTGAGCGACCTTATCTCTGTGCTTCGTGAAGCTAATCAAGCAATTAATCCCAAGTTGCTTCAGTTGGTCGAAGACAGAGGT
K
CAGGTCGTTCCAGGGGTAGAGGAGGCATGAAGGATGACCGTCGGGACAGATACTCTGCGGGCAAAAGGGGTGGATTTAATACCTTTAGAGACAGGGAAAA
Celera SNP ID:                hCV7450990
SNP Position Transcript:      1690
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,172|G,12) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:385, 480,(S,TCA) (A,GCA)



Context              (SEQ ID NO:2327):
AATATGCACAATGGTATGAACCAACAGGCATATGCATATCCTGCTACTGCAGCTGCACCTATGATTGGTTATCCAATGCCAACAGGATATTCCCAATAAG
M
CTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAAT
Celera SNP ID:                hCV32325037
SNP Position Transcript:      2099
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:385, None



Context              (SEQ ID NO:2328):
CAATGCCAACAGGATATTCCCAATAAGACTTTAGAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTT
R
TTTAAGAAACATGGGAATTGCAGAAATGACTGCAGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTACATTCCTGAAAC
Celera SNP ID:                hCV11418012
SNP Position Transcript:      2172
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:385, None



Context              (SEQ ID NO:2329):
GAAGTATATGTAAATGTCTGTTTTTCATAATTGCTCTTTATATTGTGTGTTATCTGACAAGATAGTTATTTAAGAAACATGGGAATTGCAGAAATGACTG
Y
AGTGCAGCAGTAATTATGGTGCACTTTTTCGCTATTTAAGTTGGATATTTCTCTACATTCCTGAAACAATTTTTAGGTTTTTTTTGTACTAGAAAATGCA
Celera SNP ID:                hCV7450989
SNP Position Transcript:      2205
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:385, None



Context              (SEQ ID NO:2330):
CCTTCCAATAAAAAATATTTGAAGACTGAATTAAGTGGAAATTGTACTTTATTTTATATAATGTCATGTAAAACTTTGCTTAAGATGGTCTGGTTTTTTT
Y
TTGTTTTTGTTTGGTTTTTTTTTTCCATGAAAACAAATGACTGTTCCTTTTTATTTAATTTGGGAGGCAGGGGGAATCAGAAGGCCCTTCTTTATAATGA
Celera SNP ID:                hCV31101030
SNP Position Transcript:      2471
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,118)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:385, None



Gene Number:                  54
Celera Gene:                  hCG27817 - 67000129076990
Celera Transcript:            hCT18959 - 67000129077003
Public Transcript Accession:  NM_015721
Celera Protein:               hCP45811 - 197000069434027
Public Protein Accession:     NP_056536
Gene Symbol:                  GEMIN4
Protein Name:                  gem (nuclear organelle) associated protein 4
Celera Genomic Axis:          GA_x5YUV32W2JD(14777957..14797861)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:125):
CGCGGCCGCCGTGGCTCCTGCGTCTCCCATCGTGCCGTGCGTCCCGCGCCGCGTTCGAGTTCTCGGAGGGGAGGGGGCGTTAGCCCCGCGCAGCCGCCGG
CGTCGCCGCCATGGACCTAGGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTCCACCCTAAGGCA
CTGGCAGAATTAACAAAGTCTGACTGGGAACGTGTTGGACGGCCCATCGTGGAGGCCTTAAGGGAGATCTCCTCGGCTGCAGCACACTCCCAGCCCTTTG
CCTGGAAGAAGAAAGCCCTGATCATCATCTGGGCCAAGGTTCTGCAGCCGCACCCCGTGACCCCGTCCGACACAGAGACACGGTGGCAGGAAGACCTGTT
CTTCTCGGTGGGCAACATGATCCCCACCATCAACCACACCATCCTCTTCGAGCTGCTCAAATCCCTGGAAGCTTCTGGACTCTTTATCCAGCTCCTGATG
GCCCTGCCCACCACCATCTGCCATGCAGAACTAGAGCGCTTTCTGGAACATGTGACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCT
GGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCC
CCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGCGTGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATC
CTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGACGACCCCCAGGAGGTGTCTGCAACCG
TGTATCTGGACAAACTGGCCACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGA
ACGGGATGTCAGCCTGACCTCGCTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAG
TTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGCGACGCTCTACCTGA
ACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGGTGCTGAAGAACAG
GGCCTTGGAGGATATCACAGCTTCCATTGCCATGGCCGTCATCCAGCAGAAGATGGACCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAG
TGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGAGAGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACG
TCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAA
AGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTT
AACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAA
TGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAA
TTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAGCTCCTGAACTGC
CTGATGAGTCCCGTGAAACCCCAAGGGATTCCAGTGGCTGCTCTTCTTGAGCCAGACGAGGTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATG
TTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACT
CCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATC
CATATCCTGGAGCTCCTGTGTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAG
AACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTC
AGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGCGTCTCCAGCGGCATCTCGGAG
AGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCTGGTGCAAGTCATGCCTTGGT
GCAGCCCTCAGGAGTGGCAGCGCCTTCACCAGCTGACCAGGAGACTGCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGT
TCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGG
CTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCCTTGGG
TTCAAGGACCAGAGCAGGACCTGACCCAGGAAGCCCTGTTTGTTTACACCCAGGTGTTCTGCCATGCTCTGCACATCATGGCCATGCTCCACCCGGAGGT
CTGTGAGCCACTCTACGTTTTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACAC
GAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGA
GCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAG
ACCCGAGCAGCCTGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTAC
AAACTATCATAAAAATTCTCCTCTTTCGCATCTCACTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTA
GTGTCTTCAAGATCAAATCCAGCCGGGAGGAACATGTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGT
GGAAAAAGCATTACATGGTACGTATAACCCCCTTCAAGAGTTATTTCGTCTTTTAATGTTTTTTTCTTGAGGTATCTTGGAAAGGACAGCAGCTTGGAAA
AGAA


Protein Sequence     (SEQ ID NO:386):
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHSQPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSV
GNMIPTINHTILFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEFPHPP
KRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALE
DITASIAMAVIQQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFREPDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKNKVLA
GILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLGQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFS
LCQLLDRFSKYWQLPKEKRCLSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKLSEDE
WTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDVGNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEP
LYVLALETLTCYETLSKTNPSVSSLLQRAHEQCFLKSIAEGIGPEERRQTLLQKMSSF*



SNP Information


Context              (SEQ ID NO:2331):
GACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAG
Y
TTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGCGTGCCCCACCATGCCCCT
Celera SNP ID:                hCV25608089
SNP Position Transcript:      654
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 182,(F,TTT) (L,CTT)



Context              (SEQ ID NO:2332):
CTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGAC
Y
GCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGT
Celera SNP ID:                hCV25608109
SNP Position Transcript:      2229
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 707,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2333):
ACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGC
R
TGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACC
Celera SNP ID:                hCV25608097
SNP Position Transcript:      737
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,26|A,0)  african american(G,28|A,2)  total(G,54|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 209,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,34|A,2)  total(G,72|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 209,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2334):
GCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCC
R
TCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAG
Celera SNP ID:                hCV25608117
SNP Position Transcript:      2847
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 913,(V,GTC) (I,ATC)



Context              (SEQ ID NO:2335):
CAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGT
R
TCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCA
Celera SNP ID:                hCV25608107
SNP Position Transcript:      1614
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 502,(I,ATC) (V,GTC)



Context              (SEQ ID NO:2336):
GGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGA
Y
GACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGCCACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGC
Celera SNP ID:                hCV2988796
SNP Position Transcript:      875
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,0|C,16)  total(T,3|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 255,(D,GAC) (D,GAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,36)  african american(T,4|C,32)  total(T,8|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 255,(D,GAC) (D,GAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,20|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 255,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2337):
GTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGT
R
ATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCC
Celera SNP ID:                hCV2988801
SNP Position Transcript:      2895
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,276|A,2720) ; no_pop(G,130|A,870) ; no_pop(G,-|A,-) ; no_pop(
G,276|A,1788)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 929,(D,GAT) (N,AAT)



Context              (SEQ ID NO:2338):
GACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGA
Y
TGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTG
Celera SNP ID:                hCV2988799
SNP Position Transcript:      2326
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,164|C,20) ; no_pop(T,20|C,8) ; no_pop(T,-|C,-) ; no_pop(T,580
|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 739,(I,ATT) (T,ACT)



Context              (SEQ ID NO:2339):
GTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGG
S
CCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGG
Celera SNP ID:                hCV7470252
SNP Position Transcript:      1846
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,3248|C,2096) ; no_pop(G,234|C,118) ; no_pop(G,1744|C,1400) ;
no_pop(G,1696|C,1056)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 579,(G,GGC) (A,GCC)



Context              (SEQ ID NO:2340):
TTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGC
K
TCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCT
Celera SNP ID:                hCV25608116
SNP Position Transcript:      2580
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 824,(V,GTC) (F,TTC)



Context              (SEQ ID NO:2341):
GTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCC
R
AGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAG
Celera SNP ID:                hCV22274225
SNP Position Transcript:      2161
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2336|A,592) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,20
8|A,32)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 684,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2342):
TGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCAC
R
CTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCT
Celera SNP ID:                hCV2988800
SNP Position Transcript:      2477
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,12)  african american(G,1|A,31)  total(G,1|A,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 789,(T,ACA) (T,ACG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,16|G,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 789,(T,ACA) (T,ACG)



Context              (SEQ ID NO:2343):
CGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTT
S
AAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCC
Celera SNP ID:                hCV25472127
SNP Position Transcript:      2456
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 782,(F,TTC) (L,TTG)



Context              (SEQ ID NO:2344):
AAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCC
Y
GGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTC
Celera SNP ID:                hCV25608108
SNP Position Transcript:      2356
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 749,(P,CCG) (L,CTG)



Context              (SEQ ID NO:2345):
AGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGC
R
ACGCTCTACCTGAACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGG
Celera SNP ID:                hCV25608098
SNP Position Transcript:      1187
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,37|A,1)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 359,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,|A,)  african american(G,17|A,1)  total(G,17|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 359,(A,GCG) (A,GCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 359,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2346):
TCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCAT
Y
GGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAG
Celera SNP ID:                hCV7470251
SNP Position Transcript:      3236
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,5080|T,1144) ; no_pop(C,-|T,-) ; no_pop(C,536|T,136)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 1042,(I,ATC) (I,ATT)



Context              (SEQ ID NO:2347):
GCCACTCTACGTTTTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAG
Y
GCTTCTTAAAGTCCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGC
Celera SNP ID:                hCV2988802
SNP Position Transcript:      3207
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,13|C,9)  african american(T,24|C,4)  total(T,37|C,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 1033,(C,TGC) (R,CGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,17)  african american(T,30|C,6)  total(T,51|C,23)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 1033,(C,TGC) (R,CGC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,2052|C,1116) ; no_pop(T,12|C,8) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 1033,(C,TGC) (R,CGC)



Context              (SEQ ID NO:2348):
ACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAG
W
GCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAG
Celera SNP ID:                hCV22274226
SNP Position Transcript:      1888
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 593,(E,GAG) (V,GTG)



Context              (SEQ ID NO:2349):
CGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACCTC
R
CTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCA
Celera SNP ID:                hCV25608096
SNP Position Transcript:      1022
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,1)  total(G,73|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:386, 304,(S,TCG) (S,TCA)



Context              (SEQ ID NO:2350):
AAATAAAGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACA
W
CTTTTAACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAA
Celera SNP ID:                hCV2988798
SNP Position Transcript:      1695
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,3|A,501) ; no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 529,(T,ACT) (S,TCT)



Context              (SEQ ID NO:2351):
CCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGA
S
AGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGAT
Celera SNP ID:                hCV2988797
SNP Position Transcript:      1458
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,132|G,876) ; no_pop(C,-|G,-) ; no_pop(C,-|G
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:386, 450,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:2352):
CGCGGCCGCCGTGGCTCCTGCGTCTCCCATCGTGCCGTGCGTCCCGCGCCGCGTTCGAGTTCTCGGAGGGG
R
GGGGGCGTTAGCCCCGCGCAGCCGCCGGCGTCGCCGCCATGGACCTAGGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCT
Celera SNP ID:                hCV598361
SNP Position Transcript:      72
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:386, None



Context              (SEQ ID NO:2353):
CCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAG
M
TTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGCCTGGACTTTACAGTTATGTGAAACTGTCC
Celera SNP ID:                hCV11446159
SNP Position Transcript:      3340
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:386, None



Context              (SEQ ID NO:2354):
GGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCC
R
AGCAGCCTGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACT
Celera SNP ID:                hCV7470245
SNP Position Transcript:      3405
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2544|A,588) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:386, None



Context              (SEQ ID NO:2355):
ACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGC
M
TGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACTATCATAA
Celera SNP ID:                hCV11446162
SNP Position Transcript:      3412
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:386, None



Context              (SEQ ID NO:2356):
TTCGCATCTCACTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTAGTGTCTTCAAGATCAAATCCAGCC
R
GGAGGAACATGTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGTGGAAAAAGCATTACATGGTACGTAT
Celera SNP ID:                hCV7470244
SNP Position Transcript:      3625
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,46|A,46) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:386, None



Gene Number:                  54
Celera Gene:                  hCG27817 - 67000129076990
Celera Transcript:            hCT2264559 - 67000129076991
Public Transcript Accession:
Celera Protein:               hCP1890761 - 197000069434025
Public Protein Accession:
Gene Symbol:                  GEMIN4
Protein Name:                  gem (nuclear organelle) associated protein 4
Celera Genomic Axis:          GA_x5YUV32W2JD(14777957..14797861)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:126):
CGCGCGGGCCCGGACCGAAACGTCCCCCGCGTCGGGGCGGGTCTAGGGGTCCCGGGGTGGCCTTGGCGGGGGGTGGTCCGGGTCCCGCCGCGCGTTGGGC
CGCGTCTTGCCGCCTCCGGCCCCCTGCGCTTGAAAACACGGAGCAGACGTGAAGTTAGAGCCCTTGGAAGCGCCCGGGGCTCGCGCACGTGCTTTGGGAA
ACGGGCTCCCTCCGAGCACCCCTGGGCGCCCCGACGGCCTCATTTCCTGAACGGCAGCTGCGTTCTTGAGCAAGTGTCTTAACGCTCCAAGTGTCTTACG
CTCATGACGTTTCCTCATCGACAGAGCGGGGAGAATGGAAGTGTGTCTCCCCACTGAGTTTTGGGCGACTTTGCATTGAGATCGCCGAGAGCTAGGGCCA
TGAGTACCTTGTTTTTGACTGGAAGGAGCTGTGGGGTGGACCGTTTCCCTGAAAGCTAGAAGAATGTTTGAAGCCTGTTCCCAAGGACCCTTGAACATCT
GTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTCCACCCTAAGGCACTGGCAGAATTAACAAAGTCTGACTGGGAACGTGT
TGGACGGCCCATCGTGGAGGCCTTAAGGGAGATCTCCTCGGCTGCAGCACACTCCCAGCCCTTTGCCTGGAAGAAGAAAGCCCTGATCATCATCTGGGCC
AAGGTTCTGCAGCCGCACCCCGTGACCCCGTCCGACACAGAGACACGGTGGCAGGAAGACCTGTTCTTCTCGGTGGGCAACATGATCCCCACCATCAACC
ACACCATCCTCTTCGAGCTGCTCAAATCCCTGGAAGCTTCTGGACTCTTTATCCAGCTCCTGATGGCCCTGCCCACCACCATCTGCCATGCAGAACTAGA
GCGCTTTCTGGAACATGTGACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAG
GACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACG
CGTGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAA
CCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGACGACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGCCACGGTGATCTCTGTG
TGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACCTCGCTGGCCAAACTCC
CCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAG
TTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGCGACGCTCTACCTGAACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTG
GTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGGTGCTGAAGAACAGGGCCTTGGAGGATATCACAGCTTCCATTGCCATGG
CCGTCATCCAGCAGAAGATGGACCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGG
GAGTAACAGGGCCCTCTTCCGAGAGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAG
ATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAA
AGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTT
GGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCAC
AAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAG
AAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAGCTCCTGAACTGCCTGATGAGTCCCGTGAAACCCCAAGGGATTCCAGT
GGCTGCTCTTCTTGAGCCAGACGAGGTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATC
CAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCA
GCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGTATCAGC
CAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAG
AGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGT
ACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGCGTCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAA
TCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCTGGTGCAAGTCATGCCTTGGTGCAGCCCTCAGGAGTGGCAGCGCCTTCACCAGCTG
ACCAGGAGACTGCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGT
TGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACT
CCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCCTTGGGTTCAAGGACCAGAGCAGGACCTGACCCAGGAAGCC
CTGTTTGTTTACACCCAGGTGTTCTGCCATGCTCTGCACATCATGGCCATGCTCCACCCGGAGGTCTGTGAGCCACTCTACGTTTTAGCCTTGGAAACCC
TCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCAT
CGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCA
GCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGCCTGGACTTTACAGTTATGTGAAAC
TGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACTATCATAAAAATTCTCCTCTTTCGCATCTCA
CTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTAGTGTCTTCAAGATCAAATCCAGCCGGGAGGAACAT
GTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGTGGAAAAAGCATTACATGGTACGTATAACCCCCTTC
AAGAGTTATTTCGTCTTTTAATGTTTTTTTCTTGAGGTATCTTGGAAAGGACAGCAGCTTGGAAAAGAA


Protein Sequence     (SEQ ID NO:387):
MFEACSQGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHSQPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDL
FFSVGNMIPTINHTILFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEF
PHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEA
ERDVSLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKN
RALEDITASIAMAVIQQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFREPDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKN
KVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLGQILTAFPALRFVEEQGP
NSSATFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFP
LLFSLCQLLDRFSKYWQLPKEKRCLSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKL
SEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDVGNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQF
VPLLNLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPE
VCEPLYVLALETLTCYETLSKTNPSVSSLLQRAHEQCFLKSIAEGIGPEERRQTLLQKMSSF*



SNP Information


Context              (SEQ ID NO:2357):
GACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAG
Y
TTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGCGTGCCCCACCATGCCCCT
Celera SNP ID:                hCV25608089
SNP Position Transcript:      1019
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 186,(F,TTT) (L,CTT)



Context              (SEQ ID NO:2358):
ACTGAGTTTTGGGCGACTTTGCATTGAGATCGCCGAGAGCTAGGGCCATGAGTACCTTGTTTTTGACTGGAAGGAGCTGTGGGGTGGACCGTTTCCCTGA
Y
AGCTAGAAGAATGTTTGAAGCCTGTTCCCAAGGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTC
Celera SNP ID:                hCV26749991
SNP Position Transcript:      453
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,4|C,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2359):
CTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGAC
Y
GCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGT
Celera SNP ID:                hCV25608109
SNP Position Transcript:      2594
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 711,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2360):
ACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGC
R
TGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACC
Celera SNP ID:                hCV25608097
SNP Position Transcript:      1102
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,26|A,0)  african american(G,28|A,2)  total(G,54|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 213,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,34|A,2)  total(G,72|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 213,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2361):
GCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCC
R
TCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAG
Celera SNP ID:                hCV25608117
SNP Position Transcript:      3212
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 917,(V,GTC) (I,ATC)



Context              (SEQ ID NO:2362):
CAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGT
R
TCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCA
Celera SNP ID:                hCV25608107
SNP Position Transcript:      1979
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 506,(I,ATC) (V,GTC)



Context              (SEQ ID NO:2363):
GGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGA
Y
GACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGCCACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGC
Celera SNP ID:                hCV2988796
SNP Position Transcript:      1240
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,0|C,16)  total(T,3|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 259,(D,GAC) (D,GAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,36)  african american(T,4|C,32)  total(T,8|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 259,(D,GAC) (D,GAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,20|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 259,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2364):
CGACAGAGCGGGGAGAATGGAAGTGTGTCTCCCCACTGAGTTTTGGGCGACTTTGCATTGAGATCGCCGAGAGCTAGGGCCATGAGTACCTTGTTTTTGA
Y
TGGAAGGAGCTGTGGGGTGGACCGTTTCCCTGAAAGCTAGAAGAATGTTTGAAGCCTGTTCCCAAGGACCCTTGAACATCTGTGAAGAAATGACTATTCT
Celera SNP ID:                hCV31558631
SNP Position Transcript:      419
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2365):
GTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGT
R
ATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCC
Celera SNP ID:                hCV2988801
SNP Position Transcript:      3260
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,276|A,2720) ; no_pop(G,130|A,870) ; no_pop(G,-|A,-) ; no_pop(
G,276|A,1788)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 933,(D,GAT) (N,AAT)



Context              (SEQ ID NO:2366):
GACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGA
Y
TGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTG
Celera SNP ID:                hCV2988799
SNP Position Transcript:      2691
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,164|C,20) ; no_pop(T,20|C,8) ; no_pop(T,-|C,-) ; no_pop(T,580
|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 743,(I,ATT) (T,ACT)



Context              (SEQ ID NO:2367):
GTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGG
S
CCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGG
Celera SNP ID:                hCV7470252
SNP Position Transcript:      2211
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,3248|C,2096) ; no_pop(G,234|C,118) ; no_pop(G,1744|C,1400) ;
no_pop(G,1696|C,1056)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 583,(G,GGC) (A,GCC)



Context              (SEQ ID NO:2368):
TTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGC
K
TCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCT
Celera SNP ID:                hCV25608116
SNP Position Transcript:      2945
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 828,(V,GTC) (F,TTC)



Context              (SEQ ID NO:2369):
GTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCC
R
AGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAG
Celera SNP ID:                hCV22274225
SNP Position Transcript:      2526
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2336|A,592) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,20
8|A,32)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 688,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2370):
TGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCAC
R
CTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCT
Celera SNP ID:                hCV2988800
SNP Position Transcript:      2842
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,12)  african american(G,1|A,31)  total(G,1|A,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 793,(T,ACA) (T,ACG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,16|G,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 793,(T,ACA) (T,ACG)



Context              (SEQ ID NO:2371):
CGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTT
S
AAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCC
Celera SNP ID:                hCV25472127
SNP Position Transcript:      2821
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 786,(F,TTC) (L,TTG)



Context              (SEQ ID NO:2372):
AAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCC
Y
GGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTC
Celera SNP ID:                hCV25608108
SNP Position Transcript:      2721
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 753,(P,CCG) (L,CTG)



Context              (SEQ ID NO:2373):
AGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGC
R
ACGCTCTACCTGAACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGG
Celera SNP ID:                hCV25608098
SNP Position Transcript:      1552
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,37|A,1)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 363,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,|A,)  african american(G,17|A,1)  total(G,17|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 363,(A,GCG) (A,GCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 363,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2374):
TCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCAT
Y
GGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAG
Celera SNP ID:                hCV7470251
SNP Position Transcript:      3601
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,5080|T,1144) ; no_pop(C,-|T,-) ; no_pop(C,536|T,136)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 1046,(I,ATC) (I,ATT)



Context              (SEQ ID NO:2375):
GCCACTCTACGTTTTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAG
Y
GCTTCTTAAAGTCCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGC
Celera SNP ID:                hCV2988802
SNP Position Transcript:      3572
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,13|C,9)  african american(T,24|C,4)  total(T,37|C,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 1037,(C,TGC) (R,CGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,17)  african american(T,30|C,6)  total(T,51|C,23)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 1037,(C,TGC) (R,CGC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,2052|C,1116) ; no_pop(T,12|C,8) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 1037,(C,TGC) (R,CGC)



Context              (SEQ ID NO:2376):
ACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAG
W
GCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAG
Celera SNP ID:                hCV22274226
SNP Position Transcript:      2253
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 597,(E,GAG) (V,GTG)



Context              (SEQ ID NO:2377):
CGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACCTC
R
CTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCA
Celera SNP ID:                hCV25608096
SNP Position Transcript:      1387
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,1)  total(G,73|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:387, 308,(S,TCG) (S,TCA)



Context              (SEQ ID NO:2378):
TGAGTTTTGGGCGACTTTGCATTGAGATCGCCGAGAGCTAGGGCCATGAGTACCTTGTTTTTGACTGGAAGGAGCTGTGGGGTGGACCGTTTCCCTGAAA
R
CTAGAAGAATGTTTGAAGCCTGTTCCCAAGGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTCCA
Celera SNP ID:                hCV26749992
SNP Position Transcript:      455
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,6|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2379):
AAATAAAGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACA
W
CTTTTAACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAA
Celera SNP ID:                hCV2988798
SNP Position Transcript:      2060
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,3|A,501) ; no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 533,(T,ACT) (S,TCT)



Context              (SEQ ID NO:2380):
CCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGA
S
AGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGAT
Celera SNP ID:                hCV2988797
SNP Position Transcript:      1823
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,132|G,876) ; no_pop(C,-|G,-) ; no_pop(C,-|G
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:387, 454,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:2381):
CCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAG
M
TTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGCCTGGACTTTACAGTTATGTGAAACTGTCC
Celera SNP ID:                hCV11446159
SNP Position Transcript:      3705
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2382):
GGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCC
R
AGCAGCCTGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACT
Celera SNP ID:                hCV7470245
SNP Position Transcript:      3770
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2544|A,588) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2383):
ACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGC
M
TGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACTATCATAA
Celera SNP ID:                hCV11446162
SNP Position Transcript:      3777
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:387, None



Context              (SEQ ID NO:2384):
TTCGCATCTCACTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTAGTGTCTTCAAGATCAAATCCAGCC
R
GGAGGAACATGTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGTGGAAAAAGCATTACATGGTACGTAT
Celera SNP ID:                hCV7470244
SNP Position Transcript:      3990
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,46|A,46) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:387, None



Gene Number:                  54
Celera Gene:                  hCG27817 - 67000129076990
Celera Transcript:            hCT2264561 - 67000129076998
Public Transcript Accession:
Celera Protein:               hCP1890762 - 197000069434026
Public Protein Accession:
Gene Symbol:                  GEMIN4
Protein Name:                  gem (nuclear organelle) associated protein 4
Celera Genomic Axis:          GA_x5YUV32W2JD(14777957..14797861)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:127):
GGACCCTTGAACATCTGTGAAGAAATGACTATTCTGCATGGAGGCTTCTTGCTGGCCGAGCAGCTGTTCCACCCTAAGGCACTGGCAGAATTAACAAAGT
CTGACTGGGAACGTGTTGGACGGCCCATCGTGGAGGCCTTAAGGGAGATCTCCTCGGCTGCAGCACACTCCCAGCCCTTTGCCTGGAAGAAGAAAGCCCT
GATCATCATCTGGGCCAAGGTTCTGCAGCCGCACCCCGTGACCCCGTCCGACACAGAGACACGGTGGCAGGAAGACCTGTTCTTCTCGGTGGGCAACATG
ATCCCCACCATCAACCACACCATCCTCTTCGAGCTGCTCAAATCCCTGGAAGCTTCTGGACTCTTTATCCAGCTCCTGATGGCCCTGCCCACCACCATCT
GCCATGCAGAACTAGAGCGCTTTCTGGAACATGTGACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCA
CAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTT
AGGTCAGACCCAGACGCGTGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGT
GCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGACGACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGC
CACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACC
TCGCTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCA
GCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGCGACGCTCTACCTGAACCGCACCAGCCTGTCCAA
GGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGGTGCTGAAGAACAGGGCCTTGGAGGATATCACA
GCTTCCATTGCCATGGCCGTCATCCAGCAGAAGATGGACCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGT
GGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGAGAGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGC
CATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGTATCCTG
CGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCAGAGTG
CCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGT
CAATCTCGGCACCCACAAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATG
GTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAGCTCCTGAACTGCCTGATGAGTCCCGTGAAAC
CCCAAGGGATTCCAGTGGCTGCTCTTCTTGAGCCAGACGAGGTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAG
TCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAG
CTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGT
GTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGT
GGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCC
CAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGCGTCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGG
TGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCTGGTGCAAGTCATGCCTTGGTGCAGCCCTCAGGAGTGGCA
GCGCCTTCACCAGCTGACCAGGAGACTGCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAG
CCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGA
ACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCCTTGGGTTCAAGGACCAGAGCAGGA
CCTGACCCAGGAAGCCCTGTTTGTTTACACCCAGGTGTTCTGCCATGCTCTGCACATCATGGCCATGCTCCACCCGGAGGTCTGTGAGCCACTCTACGTT
TTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGTGCTTCTTAAAGT
CCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCG
GGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGCCTGGACTT
TACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACTATCATAAAAATTCT
CCTCTTTCGCATCTCACTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTAGTGTCTTCAAGATCAAATC
CAGCCGGGAGGAACATGTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGTGGAAAAAGCATTACATGGT
ACGTATAACCCCCTTCAAGAGTTATTTCGTCTTTTAATGTTTTTTTCTTGAGGTATCTTGGAAAGGACAGCAGCTTGGAAAAGAA


Protein Sequence     (SEQ ID NO:388):
MTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHSQPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTI
LFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEFPHPPKRLRSDPDACP
TMPLLAMLLRGLTQIQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDVSLTSLAKLPSE
TIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVI
QQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFREPDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKNKVLAGILRSWGRKGL
SEKLLAYVEGFQEDLNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLGQILTAFPALRFVEEQGPNSSATFMVSCLKETV
WMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKY
WQLPKEKRCLSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKLSEDEWTSQAHPGYGA
GTGLLAWMECCCVSSGISERMLSLLVVDVGNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLLNLKPFAQELQL
SVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTC
YETLSKTNPSVSSLLQRAHEQCFLKSIAEGIGPEERRQTLLQKMSSF*



SNP Information


Context              (SEQ ID NO:2385):
GACCGTTGACACTTCTGCCGAAGACGTGGCCTTCTTCCTGGACGTCTGGTGGGAGGTGATGAAGCACAAGGGTCACCCGCAGGACCCCCTGCTCTCCCAG
Y
TTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGCGTGCCCCACCATGCCCCT
Celera SNP ID:                hCV25608089
SNP Position Transcript:      535
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 171,(F,TTT) (L,CTT)



Context              (SEQ ID NO:2386):
CTTCATCCAGACTCTAGAGGCAAACGCGTGCCGAGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGAC
Y
GCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGT
Celera SNP ID:                hCV25608109
SNP Position Transcript:      2110
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 696,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2387):
ACCCCCTGCTCTCCCAGTTTAGTGCAATGGCCCATAAGTACCTGCCTGCCTTAGATGAGTTCCCCCATCCTCCAAAGAGGCTTAGGTCAGACCCAGACGC
R
TGCCCCACCATGCCCCTGTTGGCCATGCTGCTCCGCGGGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACC
Celera SNP ID:                hCV25608097
SNP Position Transcript:      618
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,26|A,0)  african american(G,28|A,2)  total(G,54|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 198,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,34|A,2)  total(G,72|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 198,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2388):
GCTGGAGAAGCAGCTCCTCCATGTCCCTTATAGCCTGGAATATATTCAGTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCC
R
TCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGTGATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAG
Celera SNP ID:                hCV25608117
SNP Position Transcript:      2728
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 902,(V,GTC) (I,ATC)



Context              (SEQ ID NO:2389):
CAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGATCCTGGAATGTTACGCAGACCTCTCCCTGCCAGGTAAAAATAAAGTCCTTGCAGGT
R
TCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACAACTTTTAACCAGCTCACTCA
Celera SNP ID:                hCV25608107
SNP Position Transcript:      1495
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 491,(I,ATC) (V,GTC)



Context              (SEQ ID NO:2390):
GGCTGACACAGATCCAGAGTCGGATCCTGGGCCCGGGGAGGAAGTGCTGTGCGCTGGCCAACCTGGCTGACATGCTGACTGTGTTTGCGCTGACAGAGGA
Y
GACCCCCAGGAGGTGTCTGCAACCGTGTATCTGGACAAACTGGCCACGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGC
Celera SNP ID:                hCV2988796
SNP Position Transcript:      756
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,0|C,16)  total(T,3|C,33)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 244,(D,GAC) (D,GAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,36)  african american(T,4|C,32)  total(T,8|C,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 244,(D,GAC) (D,GAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,20|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 244,(D,GAC) (D,GAT)



Context              (SEQ ID NO:2391):
GTTTGTTCCCCTGCTCAACCTGAAGCCCTTTGCCCAGGAGTTGCAACTCTCCGTCCTCTTCCTGAGGACTTTCCAGTTTCTCTGCAGCCATAGCTGTCGT
R
ATTGGCTTCCTCTGGAAGGCTGGAACCACGTGGTCAAACTCCTCTGTGGCAGTCTGACCCGCCTCCTGGACTCAGTCAGGGCGATACAGGCAGCTGGCCC
Celera SNP ID:                hCV2988801
SNP Position Transcript:      2776
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,276|A,2720) ; no_pop(G,130|A,870) ; no_pop(G,-|A,-) ; no_pop(
G,276|A,1788)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 918,(D,GAT) (N,AAT)



Context              (SEQ ID NO:2392):
GACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGA
Y
TGTATCAGCCAATGCTGAGACCTTCTCCCCGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTG
Celera SNP ID:                hCV2988799
SNP Position Transcript:      2207
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,164|C,20) ; no_pop(T,20|C,8) ; no_pop(T,-|C,-) ; no_pop(T,580
|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 728,(I,ATT) (T,ACT)



Context              (SEQ ID NO:2393):
GTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGG
S
CCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAGAGCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGG
Celera SNP ID:                hCV7470252
SNP Position Transcript:      1727
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,3248|C,2096) ; no_pop(G,234|C,118) ; no_pop(G,1744|C,1400) ;
no_pop(G,1696|C,1056)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 568,(G,GGC) (A,GCC)



Context              (SEQ ID NO:2394):
TTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCTGC
K
TCTCCAGCGGCATCTCGGAGAGGATGCTGTCTCTCTTGGTGGTGGACGTGGGCAATCCTGAGGAGGTCAGACTGTTCAGCAAAGGCTTTCTGGTGGCCCT
Celera SNP ID:                hCV25608116
SNP Position Transcript:      2461
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 813,(V,GTC) (F,TTC)



Context              (SEQ ID NO:2395):
GTGCTGAAGGAATTTGTCCTGCCTTTCTTGAGGTTAGATGTTGAAGAGGTAGACCTCAGTCTGAGGATCTTCATCCAGACTCTAGAGGCAAACGCGTGCC
R
AGAGGAATACTGGCTCCAGACCTGCTCCCCGTTTCCACTCCTCTTCAGCTTGTGCCAGCTCTTGGACCGCTTCAGCAAATACTGGCAGCTTCCCAAGGAG
Celera SNP ID:                hCV22274225
SNP Position Transcript:      2042
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2336|A,592) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,20
8|A,32)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 673,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2396):
TGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTCAAGTGTGAAGTGCCAGCCAC
R
CTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCCTGGCCTGGATGGAGTGCTGCT
Celera SNP ID:                hCV2988800
SNP Position Transcript:      2358
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,12)  african american(G,1|A,31)  total(G,1|A,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 778,(T,ACA) (T,ACG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,16|G,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 778,(T,ACA) (T,ACG)



Context              (SEQ ID NO:2397):
CGGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTT
S
AAGTGTGAAGTGCCAGCCACACTTTTTGAGATCTGTAAGCTTTCAGAAGACGAGTGGACCTCCCAGGCCCACCCAGGGTACGGGGCTGGCACGGGGCTCC
Celera SNP ID:                hCV25472127
SNP Position Transcript:      2337
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 771,(F,TTC) (L,TTG)



Context              (SEQ ID NO:2398):
AAGGAGAAGCGGTGCCTCTCTTTGGATAGGAAGGATCTAGCGATCCATATCCTGGAGCTCCTGTGTGAGATTGTATCAGCCAATGCTGAGACCTTCTCCC
Y
GGATGTCTGGATCAAGTCCCTGTCCTGGCTCCACCGCAAGTTAGAACAGCTAGACTGGACTGTGGGCCTGAGGCTGAAGAGCTTCTTCGAGGGGCACTTC
Celera SNP ID:                hCV25608108
SNP Position Transcript:      2237
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 738,(P,CCG) (L,CTG)



Context              (SEQ ID NO:2399):
AGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCAGCCAGGGGACAAGTTACGACAGCTACCGGCTGTGCGACAGTCTGACTTCCTTCAGCCAGAACGC
R
ACGCTCTACCTGAACCGCACCAGCCTGTCCAAGGAGGACAGGCAGGTGGTCTCTGAGCTGGCGGAGTGTGTCAGGGACTTCCTGAGGAAAACGAGCACGG
Celera SNP ID:                hCV25608098
SNP Position Transcript:      1068
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,1)  african american(G,37|A,1)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 348,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,|A,)  african american(G,17|A,1)  total(G,17|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 348,(A,GCG) (A,GCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 348,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2400):
TCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAGTGCTTCTTAAAGTCCATTGCTGAGGGCAT
Y
GGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAG
Celera SNP ID:                hCV7470251
SNP Position Transcript:      3117
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,5080|T,1144) ; no_pop(C,-|T,-) ; no_pop(C,536|T,136)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 1031,(I,ATC) (I,ATT)



Context              (SEQ ID NO:2401):
GCCACTCTACGTTTTAGCCTTGGAAACCCTCACCTGCTATGAGACTTTGAGCAAGACCAACCCTTCTGTCAGCTCCTTGCTCCAGAGGGCACACGAGCAG
Y
GCTTCTTAAAGTCCATTGCTGAGGGCATCGGCCCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGC
Celera SNP ID:                hCV2988802
SNP Position Transcript:      3088
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,13|C,9)  african american(T,24|C,4)  total(T,37|C,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 1022,(C,TGC) (R,CGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,17)  african american(T,30|C,6)  total(T,51|C,23)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 1022,(C,TGC) (R,CGC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,2052|C,1116) ; no_pop(T,12|C,8) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 1022,(C,TGC) (R,CGC)



Context              (SEQ ID NO:2402):
ACGGTGAAGAAAATGTGCAGCCTGGCTGTGGTCAATCTCGGCACCCACAAGTTCCTGGGCCAGATTCTCACTGCCTTCCCTGCCCTTAGGTTTGTGGAAG
W
GCAGGGTCCCAATTCATCTGCCACTTTCATGGTGTCATGCCTCAAAGAAACCGTCTGGATGAAGTTCTCTACACCCAAGGAAGAAAAGCAATTTTTAGAG
Celera SNP ID:                hCV22274226
SNP Position Transcript:      1769
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 582,(E,GAG) (V,GTG)



Context              (SEQ ID NO:2403):
CGGTGATCTCTGTGTGGAACTCGGACACCCAGAATCCCTACCACCAGCAGGCGCTGGCAGAGAAGGTGAAGGAGGCAGAACGGGATGTCAGCCTGACCTC
R
CTGGCCAAACTCCCCAGTGAGACCATTTTCGTGGGCTGCGAGTTCCTGCACCACCTGCTGCGGGAGTGGGGGGAGGAGTTGCAGGCCGTGCTCCGCAGCA
Celera SNP ID:                hCV25608096
SNP Position Transcript:      903
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,1)  total(G,73|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:388, 293,(S,TCG) (S,TCA)



Context              (SEQ ID NO:2404):
AAATAAAGTCCTTGCAGGTATCCTGCGTTCCTGGGGGCGAAAGGGCCTCTCTGAAAAGTTGCTGGCTTATGTGGAGGGTTTTCAGGAAGACCTCAATACA
W
CTTTTAACCAGCTCACTCAGAGTGCCTCCGAACAGGGCTTGGCAAAAGCTGTGGCCTCCGTGGCCCGCCTGGTCATAGTGCACCCGGAAGTCACGGTGAA
Celera SNP ID:                hCV2988798
SNP Position Transcript:      1576
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,3|A,501) ; no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 518,(T,ACT) (S,TCT)



Context              (SEQ ID NO:2405):
CCGCCATATGGAAGTGTGCTACATTTTTGCCTCTGAGAAGAAGTGGGCCTTCTCGGACGAGTGGGTAGCCTGCCTGGGGAGTAACAGGGCCCTCTTCCGA
S
AGCCAGACTTGGTGTTGAGGCTGCTGGAAACAGTGATAGACGTCAGCACAGCTGACAGAGCCATCCCTGAGTCTCAGATCCGGCAGGTGATCCACCTGAT
Celera SNP ID:                hCV2988797
SNP Position Transcript:      1339
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,132|G,876) ; no_pop(C,-|G,-) ; no_pop(C,-|G
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:388, 439,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:2406):
CCTGAAGAACGGCGCCAAACCCTGTTGCAGAAGATGAGCAGCTTCTGACTTGGCGTGGGGAGCTGGGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAG
M
TTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGCCTGGACTTTACAGTTATGTGAAACTGTCC
Celera SNP ID:                hCV11446159
SNP Position Transcript:      3221
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:388, None



Context              (SEQ ID NO:2407):
GGCCCCAACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCC
R
AGCAGCCTGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACT
Celera SNP ID:                hCV7470245
SNP Position Transcript:      3286
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2544|A,588) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:388, None



Context              (SEQ ID NO:2408):
ACATGGCGGGTCTGCAGAAGATCAGCAGCTTCTTACCTGTGCGGGAGCGAAAAAGCTGGGCTTCAACATGGCAGGTCTGTAGGGGTCAGACCCGAGCAGC
M
TGGACTTTACAGTTATGTGAAACTGTCCACAAAAAGTCATGGCAATAATGGTGTAAAGAAAATAGTTTCTTGGGTATTTGTAACGTACAAACTATCATAA
Celera SNP ID:                hCV11446162
SNP Position Transcript:      3293
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:388, None



Context              (SEQ ID NO:2409):
TTCGCATCTCACTTTGTCTCTTCTAAGTCGGCCTCAGCAATAGCCCAGGATTAAATATGCTCTGAAATTGGGTTTAGTGTCTTCAAGATCAAATCCAGCC
R
GGAGGAACATGTTCATAACTGGACTTTTCCATCCTAGATTTTGGCAAATAAGCCCAAAGTTGAAACCATGTGAGTGGAAAAAGCATTACATGGTACGTAT
Celera SNP ID:                hCV7470244
SNP Position Transcript:      3506
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,46|A,46) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:388, None



Gene Number:                  55
Celera Gene:                  hCG28043 - 84000313656249
Celera Transcript:            hCT19189 - 84000313656250
Public Transcript Accession:  NM_003042
Celera Protein:               hCP43569 - 197000064936375
Public Protein Accession:     NP_003033
Gene Symbol:                  SLC6A1
Protein Name:                  solute carrier family 6 (neurotransmitter transporter, GABA), member
1

Celera Genomic Axis:          GA_x5YUV32VV34(10963869..11022380)
Chromosome:                   3
OMIM NUMBER:                  137165
OMIM Information:


Transcript Sequence  (SEQ ID NO:128):
GATCTCACCCAGGGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCC
TGTTACCCACCCCGTCCTCCTAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCG
TCCAAATTCCGAGACATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAA
CCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTATGCCAT
CGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGAGCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTC
CCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGCGG
CTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGAA
ACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTCAACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGC
AACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATCGCCTGGATCCTTGTGTATTTCTGTA
TCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACGCTGCC
CGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCA
TACGGGCTGGGCCTGGGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGT
GCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGG
GCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGAC
AGCCAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCA
TCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTGCTGTT
CCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTCTATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGG
TGGAAACTCTGCTGGTCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTT
TCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTC
CCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAGCTCCACCAGCAAG
GAGGCCTACATCTAGGGTGGGGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCA
TCTCAACCTACCTCGAGTGGCGAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAG
GATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACCTTTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCA
TTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGT
TATCTCGGACTTTGCAGGAGTTCCTTTCCCTCCGAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCT
TAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAG
GGGCGTCAGTCGATATTCCCAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCC
TGTCCCCTCCTCGCCGGGCCATTCTGATTGGACCTGGCCCAGTGCAATCTGTCCAGACAAGCCCTGCTTGCTGGAAAACTGCCACAAGCACAATTGATCT
CTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCAATTTCACAGAGTACAAAA
TAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACCACCCTCGCTGCCACCCA
CCCCAAGCTGCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAACCCACCCAGCCCACTAACTGAGGAGCTAGTGTT
AATCCAGAGAACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTCCTTTCTGGAATTGGGCTCCGTGGTGGCGGCGG
CACTTCAAGCAAAGACAGTTTCTTGCAAGCTCCAGTAGCTCCGCGTGTCTCATTTGCCAGGAAGATGGGTTCCCACGTAGCAAATCGTACATTGTGCCCT
GTAGCTCCTTAGCTAGTTAGCTCACAAGCCGTGTTTTATGACTAATCCTTAATAACTATGGTAAATAACTGTGACTGTGGGGTTTTTAATCTCTTGTCAT
TCTCATCCAAAAGTGACCAGCATACCAGTTCTTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACAT
ATGAACGCACAACATGCACATTCATCCTCACATGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAA
AATAGTCTCATTGCCAAGGCATCCCCAGTGCCAGCTGGTGAATCCATGATCAAAATGCATACGTATTGTTAAATGATAAGGTTTAGAATGACAGGAACCC
ATCACTGTGTCTCATGGTCCCACTTCCCCATCTGTGTGTGAATTCCTTTAGACTAAGGGCAGGAAGACTTCCAGCTTTCTCTTTGTTCTTCAATGTGAAA
CTGAGACCAAGTCTCTCTAAGACAAATGCAGTGTATTTAATGTTTGTAAGCAATTCTAAGTGAGATGTTTGGCAAGAAATCCCCTAACTGATTTCCATCC
AAACCTACCTTATAGAGCACAATATTAAGTGTTGTACAATTACTGTGAGAACTGTGAATATGTGTAACTTTTTTTTAGTATTTGCCCGGGGGGAAAAAGA
TATTGTATTATCATATATGCTTTTTTGCAATAAGGATTTATTCTCAGAACACCAAGTAAATCTATCTCTATATAAAAAATATATGTAATATATACATATT
CAAAGTATATACAGAGCCTGTTTTAAAAAATACAGTATTATTTAGTAAAATTATCTGTTCTATGGACCAAATGTAAAATATTTATAAATGAAGATGCATT
TTAAATGTCTATAAATGGTGTCATAACTAGAGCACGGGCGTTATGTAAGTTTCTAAGAATTTAGAGGATAAATAATAAAGGTTCTATGATATACAAC


Protein Sequence     (SEQ ID NO:389):
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLL
ECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQM
TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT
VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCW
SFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*



SNP Information


Context              (SEQ ID NO:2410):
GATCTCACCCA
R
GGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCCTGTTACCCACCC
Celera SNP ID:                hCV11986250
SNP Position Transcript:      12
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,977|A,583) ; no_pop(G,6|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2411):
GGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTC
R
CCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAG
Celera SNP ID:                hCV8757505
SNP Position Transcript:      1887
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:389, 558,(T,ACC) (A,GCC)



Context              (SEQ ID NO:2412):
TAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTCCGAGACATGGC
R
ACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGA
Celera SNP ID:                hCV11986245
SNP Position Transcript:      221
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,336|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 2,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2413):
CTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCC
Y
GGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATG
Celera SNP ID:                hCV15962826
SNP Position Transcript:      1862
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 549,(P,CCC) (P,CCT)



Context              (SEQ ID NO:2414):
GCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGC
S
GCCTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGA
Celera SNP ID:                hCV8755708
SNP Position Transcript:      1286
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 357,(A,GCG) (A,GCC)



Context              (SEQ ID NO:2415):
GGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGC
R
GGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTTCCTGGCAT
Celera SNP ID:                hCV25757959
SNP Position Transcript:      1217
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,33|G,1)  total(A,73|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 334,(A,GCA) (A,GCG)



Context              (SEQ ID NO:2416):
TCCCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGC
R
GCTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGA
Celera SNP ID:                hCV15962838
SNP Position Transcript:      599
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1491|A,7) ; no_pop(G,-|A,-) ; no_pop(G,96|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 128,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2417):
ACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCAC
K
CTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGC
Celera SNP ID:                hCV11986235
SNP Position Transcript:      866
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,624|T,56) ; no_pop(G,460|T,50) ; no_pop(G,1340|T,60)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 217,(T,ACG) (T,ACT)



Context              (SEQ ID NO:2418):
TCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGAC
R
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCT
Celera SNP ID:                hCV25609750
SNP Position Transcript:      995
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,35)  total(A,1|G,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 260,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,36)  total(A,2|G,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:389, 260,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2419):
GGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCTACCTCGAGTGG
Y
GAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCA
Celera SNP ID:                hCV8757504
SNP Position Transcript:      2121
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2420):
CACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACC
W
TTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACAT
Celera SNP ID:                hCV8757503
SNP Position Transcript:      2240
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2421):
GACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGACTTTGCAGGAGTTCCTTTCCCTC
Y
GAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTC
Celera SNP ID:                hCV1903631
SNP Position Transcript:      2433
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2422):
GGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAGTCGATATTC
Y
CAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTCCTCGCCGGGC
Celera SNP ID:                hCV16272769
SNP Position Transcript:      2619
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2423):
CACAAGCACAATTGATCTCTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCA
R
TTTCACAGAGTACAAAATAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACC
Celera SNP ID:                hCV15951245
SNP Position Transcript:      2883
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2424):
GTCTCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCTGCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAA
Y
CCACCCAGCCCACTAACTGAGGAGCTAGTGTTAATCCAGAGAACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTC
Celera SNP ID:                hCV16272762
SNP Position Transcript:      3068
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Context              (SEQ ID NO:2425):
TTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCAC
R
TGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCC
Celera SNP ID:                hCV11576905
SNP Position Transcript:      3532
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4) ; no_pop(A,-|G,-) ; no_pop(A,387|G,6
27) ; no_pop(A,79|G,41)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:389, None



Gene Number:                  55
Celera Gene:                  hCG28043 - 84000313656249
Celera Transcript:            hCT2274988 - 84000313657309
Public Transcript Accession:  NM_003042
Celera Protein:               hCP1803737 - 197000064936378
Public Protein Accession:     NP_003033
Gene Symbol:                  SLC6A1
Protein Name:                  solute carrier family 6 (neurotransmitter transporter, GABA), member
1

Celera Genomic Axis:          GA_x5YUV32VV34(10963869..11022380)
Chromosome:                   3
OMIM NUMBER:                  137165
OMIM Information:


Transcript Sequence  (SEQ ID NO:129):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCC
CGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACC
CAGGGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCCTGTTACCCA
CCCCGTCCTCCTAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTC
CGAGACATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGG
TCAAGGTGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTATGCCATCGGCCTGGG
CAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGAGCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTC
CTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGC
TATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGAAACAGTGCGA
CAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTCAACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCAT
CAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGG
GTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACGCTGCCCGGGGCCAA
GGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTG
GGCCTGGGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCA
TGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTT
CCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTC
TGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCT
ACCTGATCGGTCTCTCTAACATCACTCAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTGCTGTTCCTCGTGTT
CTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTCTATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTC
TGCTGGTCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGT
GGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCA
GCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTAC
ATCTAGGGTGGGGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCT
ACCTCGAGTGGCGAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGG
TGGCTTCTGGCACCTGGCGGGCTGGTGACCTTTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCC
CGCCAGGGAGTGTGATGCAGGAAGACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGA
CTTTGCAGGAGTTCCTTTCCCTCCGAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCA
GAAGCCGGCGGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAG
TCGATATTCCCAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTC
CTCGCCGGGCCATTCTGATTGGACCTGGCCCAGTGCAATCTGTCCAGACAAGCCCTGCTTGCTGGAAAACTGCCACAAGCACAATTGATCTCTTTTTATC
GCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCAATTTCACAGAGTACAAAATAGTTGTAG
GGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCT
GCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTCCGCGTGTCTCATTTGCCAGGAAGATGGGTTCCCACGTAGCAAATC
GTACATTGTGCCCTGTAGCTCCTTAGCTAGTTAGCTCACAAGCCGTGTTTTATGACTAATCCTTAATAACTATGGTAAATAACTGTGACTGTGGGGTTTT
TAATCTCTTGTCATTCTCATCCAAAAGTGACCAGCATACCAGTTCTTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAA
ATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCACATGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCT
GAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCCAGCTGGTGAATCCATGATCAAAATGCATACGTATTGTTAAATGATAAGGTTTAG
AATGACAGGAACCCATCACTGTGTCTCATGGTCCCACTTCCCCATCTGTGTGTGAATTCCTTTAGACTAAGGGCAGGAAGACTTCCAGCTTTCTCTTTGT
TCTTCAATGTGAAACTGAGACCAAGTCTCTCTAAGACAAATGCAGTGTATTTAATGTTTGTAAGCAATTCTAAGTGAGATGTTTGGCAAGAAATCCCCTA
ACTGATTTCCATCCAAACCTACCTTATAGAGCACAATATTAAGTGTTGTACAATTACTGTGAGAACTGTGAATATGTGTAACTTTTTTTTAGTATTTGCC
CGGGGGGAAAAAGATATTGTATTATCATATATGCTTTTTTGCAATAAGGATTTATTCTCAGAACACCAAGTAAATCTATCTCTATATAAAAAATATATGT
AATATATACATATTCAAAGTATATACAGAGCCTGTTTTAAAAAATACAGTATTATTTAGTAAAATTATCTGTTCTATGGACCAAATGTAAAATATTTATA
AATGAAGATGCATTTTAAATGTCTATAAATGGTGTCATAACTAGAGCACGGGCGTTATGTAAGTTTCTAAGAATTTAGAGGATAAATAATAAAGGTTCTA
TGATATACAAC


Protein Sequence     (SEQ ID NO:390):
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLL
ECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQM
TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT
VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCW
SFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*



SNP Information


Context              (SEQ ID NO:2426):
AGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACCCA
R
GGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCCTGTTACCCACCC
Celera SNP ID:                hCV11986250
SNP Position Transcript:      203
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,977|A,583) ; no_pop(G,6|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2427):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGAC
S
GCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCC
Celera SNP ID:                hCV26855732
SNP Position Transcript:      51
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2428):
GGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTC
R
CCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAG
Celera SNP ID:                hCV8757505
SNP Position Transcript:      2078
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:390, 558,(T,ACC) (A,GCC)



Context              (SEQ ID NO:2429):
TAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTCCGAGACATGGC
R
ACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGA
Celera SNP ID:                hCV11986245
SNP Position Transcript:      412
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,336|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 2,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2430):
CTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCC
Y
GGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATG
Celera SNP ID:                hCV15962826
SNP Position Transcript:      2053
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 549,(P,CCC) (P,CCT)



Context              (SEQ ID NO:2431):
GCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGC
S
GCCTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGA
Celera SNP ID:                hCV8755708
SNP Position Transcript:      1477
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 357,(A,GCG) (A,GCC)



Context              (SEQ ID NO:2432):
GGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGC
R
GGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTTCCTGGCAT
Celera SNP ID:                hCV25757959
SNP Position Transcript:      1408
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,33|G,1)  total(A,73|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 334,(A,GCA) (A,GCG)



Context              (SEQ ID NO:2433):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTG
S
CTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGC
Celera SNP ID:                hCV26855731
SNP Position Transcript:      49
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2434):
TCCCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGC
R
GCTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGA
Celera SNP ID:                hCV15962838
SNP Position Transcript:      790
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1491|A,7) ; no_pop(G,-|A,-) ; no_pop(G,96|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 128,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2435):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAG
R
AGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGT
Celera SNP ID:                hCV26855733
SNP Position Transcript:      65
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2436):
ACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCAC
K
CTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGC
Celera SNP ID:                hCV11986235
SNP Position Transcript:      1057
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,624|T,56) ; no_pop(G,460|T,50) ; no_pop(G,1340|T,60)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 217,(T,ACG) (T,ACT)



Context              (SEQ ID NO:2437):
TCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGAC
R
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCT
Celera SNP ID:                hCV25609750
SNP Position Transcript:      1186
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,35)  total(A,1|G,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 260,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,36)  total(A,2|G,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:390, 260,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2438):
GGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCTACCTCGAGTGG
Y
GAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCA
Celera SNP ID:                hCV8757504
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2439):
CACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACC
W
TTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACAT
Celera SNP ID:                hCV8757503
SNP Position Transcript:      2431
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2440):
GACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGACTTTGCAGGAGTTCCTTTCCCTC
Y
GAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTC
Celera SNP ID:                hCV1903631
SNP Position Transcript:      2624
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2441):
GGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAGTCGATATTC
Y
CAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTCCTCGCCGGGC
Celera SNP ID:                hCV16272769
SNP Position Transcript:      2810
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2442):
CACAAGCACAATTGATCTCTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCA
R
TTTCACAGAGTACAAAATAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACC
Celera SNP ID:                hCV15951245
SNP Position Transcript:      3074
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Context              (SEQ ID NO:2443):
TTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCAC
R
TGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCC
Celera SNP ID:                hCV11576905
SNP Position Transcript:      3546
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4) ; no_pop(A,-|G,-) ; no_pop(A,387|G,6
27) ; no_pop(A,79|G,41)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:390, None



Gene Number:                  55
Celera Gene:                  hCG28043 - 84000313656249
Celera Transcript:            hCT2274990 - 84000313656269
Public Transcript Accession:  NM_003042
Celera Protein:               hCP1803735 - 197000064936376
Public Protein Accession:     NP_003033
Gene Symbol:                  SLC6A1
Protein Name:                  solute carrier family 6 (neurotransmitter transporter, GABA), member
1

Celera Genomic Axis:          GA_x5YUV32VV34(10963869..11022380)
Chromosome:                   3
OMIM NUMBER:                  137165
OMIM Information:


Transcript Sequence  (SEQ ID NO:130):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCC
CGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACC
CAGGGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCCTGTTACCCA
CCCCGTCCTCCTAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTC
CGAGACATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGG
TCAAGGTGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTATGCCATCGGCCTGGG
CAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGAGCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTC
CTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGC
TATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGAAACAGTGCGA
CAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTCAACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCAT
CAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGG
GTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACGCTGCCCGGGGCCAA
GGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTG
GGCCTGGGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCA
TGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTT
CCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTC
TGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCT
ACCTGATCGGTCTCTCTAACATCACTCAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTGCTGTTCCTCGTGTT
CTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTCTATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTC
TGCTGGTCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGT
GGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCA
GCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTAC
ATCTAGGGTGGGGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCT
ACCTCGAGTGGCGAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGG
TGGCTTCTGGCACCTGGCGGGCTGGTGACCTTTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCC
CGCCAGGGAGTGTGATGCAGGAAGACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGA
CTTTGCAGGAGTTCCTTTCCCTCCGAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCA
GAAGCCGGCGGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAG
TCGATATTCCCAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTC
CTCGCCGGGCCATTCTGATTGGACCTGGCCCAGTGCAATCTGTCCAGACAAGCCCTGCTTGCTGGAAAACTGCCACAAGCACAATTGATCTCTTTTTATC
GCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCAATTTCACAGAGTACAAAATAGTTGTAG
GGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCT
GCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAACCCACCCAGCCCACTAACTGAGGAGCTAGTGTTAATCCAGAG
AACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTCCTTTCTGGAATTGGGCTCCGTGGTGGCGGCGGCACTTCAAG
CAAAGACAGTTTCTTGCAAGCTCCAGTAGCTCCGCGTGTCTCATTTGCCAGGAAGATGGGTTCCCACGTAGCAAATCGTACATTGTGCCCTGTAGCTCCT
TAGCTAGTTAGCTCACAAGCCGTGTTTTATGACTAATCCTTAATAACTATGGTAAATAACTGTGACTGTGGGGTTTTTAATCTCTTGTCATTCTCATCCA
AAAGTGACCAGCATACCAGTTCTTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCA
CAACATGCACATTCATCCTCACATGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTC
ATTGCCAAGGCATCCCCAGTGCCAGCTGGTGAATCCATGATCAAAATGCATACGTATTGTTAAATGATAAGGTTTAGAATGACAGGAACCCATCACTGTG
TCTCATGGTCCCACTTCCCCATCTGTGTGTGAATTCCTTTAGACTAAGGGCAGGAAGACTTCCAGCTTTCTCTTTGTTCTTCAATGTGAAACTGAGACCA
AGTCTCTCTAAGACAAATGCAGTGTATTTAATGTTTGTAAGCAATTCTAAGTGAGATGTTTGGCAAGAAATCCCCTAACTGATTTCCATCCAAACCTACC
TTATAGAGCACAATATTAAGTGTTGTACAATTACTGTGAGAACTGTGAATATGTGTAACTTTTTTTTAGTATTTGCCCGGGGGGAAAAAGATATTGTATT
ATCATATATGCTTTTTTGCAATAAGGATTTATTCTCAGAACACCAAGTAAATCTATCTCTATATAAAAAATATATGTAATATATACATATTCAAAGTATA
TACAGAGCCTGTTTTAAAAAATACAGTATTATTTAGTAAAATTATCTGTTCTATGGACCAAATGTAAAATATTTATAAATGAAGATGCATTTTAAATGTC
TATAAATGGTGTCATAACTAGAGCACGGGCGTTATGTAAGTTTCTAAGAATTTAGAGGATAAATAATAAAGGTTCTATGATATACAAC


Protein Sequence     (SEQ ID NO:391):
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLL
ECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQM
TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT
VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCW
SFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*



SNP Information


Context              (SEQ ID NO:2444):
AGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACCCA
R
GGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGAGGCAACTCCAAGGTCCTACTCTCTTTCTGTGCCTGTTACCCACCC
Celera SNP ID:                hCV11986250
SNP Position Transcript:      203
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,977|A,583) ; no_pop(G,6|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2445):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGAC
S
GCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCC
Celera SNP ID:                hCV26855732
SNP Position Transcript:      51
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2446):
GGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTC
R
CCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAG
Celera SNP ID:                hCV8757505
SNP Position Transcript:      2078
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:391, 558,(T,ACC) (A,GCC)



Context              (SEQ ID NO:2447):
TAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTCCGAGACATGGC
R
ACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGA
Celera SNP ID:                hCV11986245
SNP Position Transcript:      412
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,336|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 2,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2448):
CTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCC
Y
GGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATG
Celera SNP ID:                hCV15962826
SNP Position Transcript:      2053
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 549,(P,CCC) (P,CCT)



Context              (SEQ ID NO:2449):
GCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGC
S
GCCTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGA
Celera SNP ID:                hCV8755708
SNP Position Transcript:      1477
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 357,(A,GCG) (A,GCC)



Context              (SEQ ID NO:2450):
GGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGC
R
GGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTTCCTGGCAT
Celera SNP ID:                hCV25757959
SNP Position Transcript:      1408
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,33|G,1)  total(A,73|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 334,(A,GCA) (A,GCG)



Context              (SEQ ID NO:2451):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTG
S
CTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGC
Celera SNP ID:                hCV26855731
SNP Position Transcript:      49
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2452):
TCCCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGC
R
GCTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGA
Celera SNP ID:                hCV15962838
SNP Position Transcript:      790
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1491|A,7) ; no_pop(G,-|A,-) ; no_pop(G,96|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 128,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2453):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAG
R
AGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGT
Celera SNP ID:                hCV26855733
SNP Position Transcript:      65
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2454):
ACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCAC
K
CTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGC
Celera SNP ID:                hCV11986235
SNP Position Transcript:      1057
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,624|T,56) ; no_pop(G,460|T,50) ; no_pop(G,1340|T,60)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 217,(T,ACG) (T,ACT)



Context              (SEQ ID NO:2455):
TCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGAC
R
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCT
Celera SNP ID:                hCV25609750
SNP Position Transcript:      1186
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,35)  total(A,1|G,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 260,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,36)  total(A,2|G,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:391, 260,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2456):
GGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCTACCTCGAGTGG
Y
GAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCA
Celera SNP ID:                hCV8757504
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2457):
CACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACC
W
TTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACAT
Celera SNP ID:                hCV8757503
SNP Position Transcript:      2431
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2458):
GACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGACTTTGCAGGAGTTCCTTTCCCTC
Y
GAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTC
Celera SNP ID:                hCV1903631
SNP Position Transcript:      2624
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2459):
GGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAGTCGATATTC
Y
CAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTCCTCGCCGGGC
Celera SNP ID:                hCV16272769
SNP Position Transcript:      2810
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2460):
CACAAGCACAATTGATCTCTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCA
R
TTTCACAGAGTACAAAATAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACC
Celera SNP ID:                hCV15951245
SNP Position Transcript:      3074
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2461):
GTCTCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCTGCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAA
Y
CCACCCAGCCCACTAACTGAGGAGCTAGTGTTAATCCAGAGAACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTC
Celera SNP ID:                hCV16272762
SNP Position Transcript:      3259
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Context              (SEQ ID NO:2462):
TTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCAC
R
TGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCC
Celera SNP ID:                hCV11576905
SNP Position Transcript:      3723
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4) ; no_pop(A,-|G,-) ; no_pop(A,387|G,6
27) ; no_pop(A,79|G,41)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:391, None



Gene Number:                  55
Celera Gene:                  hCG28043 - 84000313656249
Celera Transcript:            hCT2274991 - 84000313657289
Public Transcript Accession:  NM_003042
Celera Protein:               hCP1803736 - 197000064936377
Public Protein Accession:     NP_003033
Gene Symbol:                  SLC6A1
Protein Name:                  solute carrier family 6 (neurotransmitter transporter, GABA), member
1

Celera Genomic Axis:          GA_x5YUV32VV34(10963869..11022380)
Chromosome:                   3
OMIM NUMBER:                  137165
OMIM Information:


Transcript Sequence  (SEQ ID NO:131):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCC
CGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACC
CAGGGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGAC
ATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTCCGAGACATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCG
AGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGACCTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGA
CTTCCTCATGTCCTGTGTGGGCTATGCCATCGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGAGCCTTCCTGATCCCC
TATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGG
CTCCTATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTA
CAACTCCTTCACCACGACACTGCCGTGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTCAACACTACCAACATG
ACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGG
CCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGAT
CATCCTGTTCTTCCGTGGAGTGACGCTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGG
CTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTGGGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGG
ACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTC
CATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTC
TTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACC
GCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGGGGGTATTTATGTCTTCAAACTCTTTGACTA
CTACTCTGCCAGTGGCATGAGCCTGCTGTTCCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTCTATGACAATATCCAA
GAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTCTGCTGGTCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGA
TGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACAT
GGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAG
CAGCCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTACATCTAGGGTGGGGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGA
CCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCTACCTCGAGTGGCGAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTA
GACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACCTTTTTAATCCAGGCCCCATCAGCATCCCACG
ATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGAC
TGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGACTTTGCAGGAGTTCCTTTCCCTCCGAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTA
CAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATT
GAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAGTCGATATTCCCAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGA
ATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTCCTCGCCGGGCCATTCTGATTGGACCTGGCCCAGTGCAATCTGTCCAGACAAGCCCTGCTTG
CTGGAAAACTGCCACAAGCACAATTGATCTCTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTC
TTAAGCTGCCCAATTTCACAGAGTACAAAATAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTC
TCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCTGCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAACCC
ACCCAGCCCACTAACTGAGGAGCTAGTGTTAATCCAGAGAACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTCCT
TTCTGGAATTGGGCTCCGTGGTGGCGGCGGCACTTCAAGCAAAGACAGTTTCTTGCAAGCTCCAGTAGCTCCGCGTGTCTCATTTGCCAGGAAGATGGGT
TCCCACGTAGCAAATCGTACATTGTGCCCTGTAGCTCCTTAGCTAGTTAGCTCACAAGCCGTGTTTTATGACTAATCCTTAATAACTATGGTAAATAACT
GTGACTGTGGGGTTTTTAATCTCTTGTCATTCTCATCCAAAAGTGACCAGCATACCAGTTCTTGCAATAAGATATTACCCTCAGAATATTAAGCACATTA
TTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCACATGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAA
TCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCCAGCTGGTGAATCCATGATCAAAATGCATACGTATTGTT
AAATGATAAGGTTTAGAATGACAGGAACCCATCACTGTGTCTCATGGTCCCACTTCCCCATCTGTGTGTGAATTCCTTTAGACTAAGGGCAGGAAGACTT
CCAGCTTTCTCTTTGTTCTTCAATGTGAAACTGAGACCAAGTCTCTCTAAGACAAATGCAGTGTATTTAATGTTTGTAAGCAATTCTAAGTGAGATGTTT
GGCAAGAAATCCCCTAACTGATTTCCATCCAAACCTACCTTATAGAGCACAATATTAAGTGTTGTACAATTACTGTGAGAACTGTGAATATGTGTAACTT
TTTTTTAGTATTTGCCCGGGGGGAAAAAGATATTGTATTATCATATATGCTTTTTTGCAATAAGGATTTATTCTCAGAACACCAAGTAAATCTATCTCTA
TATAAAAAATATATGTAATATATACATATTCAAAGTATATACAGAGCCTGTTTTAAAAAATACAGTATTATTTAGTAAAATTATCTGTTCTATGGACCAA
ATGTAAAATATTTATAAATGAAGATGCATTTTAAATGTCTATAAATGGTGTCATAACTAGAGCACGGGCGTTATGTAAGTTTCTAAGAATTTAGAGGATA
AATAATAAAGGTTCTATGATATACAAC


Protein Sequence     (SEQ ID NO:392):
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLL
ECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQM
TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCT
VEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCW
SFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI*



SNP Information


Context              (SEQ ID NO:2463):
AGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGTCCCGGGCAGCGCAGCCCCGGCCGCAGGATCTCACCCA
R
GGTGGCAGAAGGAGGCCTTCTGGAGCTGACCCACCCCCGACGACCATCAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATC
Celera SNP ID:                hCV11986250
SNP Position Transcript:      203
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,977|A,583) ; no_pop(G,6|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2464):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGAC
S
GCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCC
Celera SNP ID:                hCV26855732
SNP Position Transcript:      51
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2465):
GGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTC
R
CCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATGGTCCTGAGCAGCCCCAGGCGGGCAG
Celera SNP ID:                hCV8757505
SNP Position Transcript:      2017
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:392, 558,(T,ACC) (A,GCC)



Context              (SEQ ID NO:2466):
CAGGGTGCCCTTGAGCCGCAAAACTGCTGTCCACGTGGACCGGGGGTGACATCGCACGTCCATCTGCCAGGACCCCTGCGTCCAAATTCCGAGACATGGC
R
ACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCCCCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGA
Celera SNP ID:                hCV11986245
SNP Position Transcript:      351
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,336|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 2,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2467):
CTGTGCAGATGACGCCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATGGCTCTGTCTTCCATGGTCCTCATCCC
Y
GGGTACATGGCCTACATGTTCCTCACCTTAAAGGGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCAGAGAATG
Celera SNP ID:                hCV15962826
SNP Position Transcript:      1992
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 549,(P,CCC) (P,CCT)



Context              (SEQ ID NO:2468):
GCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGC
S
GCCTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTCTGGGCCATCCTCTTCTTCTCCATGCTGTTGA
Celera SNP ID:                hCV8755708
SNP Position Transcript:      1416
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 357,(A,GCG) (A,GCC)



Context              (SEQ ID NO:2469):
GGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCCATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGC
R
GGATTCGTCATCTTCTCCATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGCCCCGGGCTGGCGTTCCTGGCAT
Celera SNP ID:                hCV25757959
SNP Position Transcript:      1347
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,33|G,1)  total(A,73|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 334,(A,GCA) (A,GCG)



Context              (SEQ ID NO:2470):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTG
S
CTGCGCTGAGCCCAGGAGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGC
Celera SNP ID:                hCV26855731
SNP Position Transcript:      49
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2471):
TCCCACTCTTCCTGCTGGAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCTATGTTCAAGGGCGTGGGCCTTGC
R
GCTGCTGTGCTATCATTCTGGCTGAACATCTACTACATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCGTGGA
Celera SNP ID:                hCV15962838
SNP Position Transcript:      729
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1491|A,7) ; no_pop(G,-|A,-) ; no_pop(G,96|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 128,(A,GCG) (A,GCA)



Context              (SEQ ID NO:2472):
CCCTCCGCCCGCCCTCGGAAGACCGAGACAGCGGAGAGGTTGCGGGTGACTGCGCTGAGCCCAG
R
AGCCGAGGAGTCGGGAGCGCAGCGCAGCCCGAGCCCGAGCCCGAGCGGCCCCGCGTCCCGAGCGCATCGGAGCGGCCGAGCCGCCCGGTGCAGCGCCTGT
Celera SNP ID:                hCV26855733
SNP Position Transcript:      65
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2473):
ACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATGACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCAC
K
CTGGCCATCGCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGC
Celera SNP ID:                hCV11986235
SNP Position Transcript:      996
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,624|T,56) ; no_pop(G,460|T,50) ; no_pop(G,1340|T,60)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 217,(T,ACG) (T,ACT)



Context              (SEQ ID NO:2474):
TCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTCTACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGAC
R
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCTGACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCT
Celera SNP ID:                hCV25609750
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,1|G,35)  total(A,1|G,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 260,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,36)  total(A,2|G,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:392, 260,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2475):
GGGCCACTCACCGACCCGACACTCTCACCCCCCGACCTGGCTGAGTGCGACCACCACTTGATGTCTGAGGATACCTTCCATCTCAACCTACCTCGAGTGG
Y
GAGTCCAGACACCATCACCACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCA
Celera SNP ID:                hCV8757504
SNP Position Transcript:      2251
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2476):
CACGCAGAGAGGGGAGGTGGGAGGACAGTTAGACCCCTGGGTGGGCCCTGCCGTGGGCAAGGATACCCGGTGGCTTCTGGCACCTGGCGGGCTGGTGACC
W
TTTTAATCCAGGCCCCATCAGCATCCCACGATCGGCCTTGGTAACCGCCGCGGTAGATCATTTTTATCCCGCCAGGGAGTGTGATGCAGGAAGACCACAT
Celera SNP ID:                hCV8757503
SNP Position Transcript:      2370
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2477):
GACCACATGCGCTCCTGGCTTTTAAACCTGTTCCTGACTGTTCTCTTACTGCCGAAACCCTTGACTGTTATCTCGGACTTTGCAGGAGTTCCTTTCCCTC
Y
GAACGCTGCTCCATGCACAGGAAAAGGGCATTTTGTACAATGGGGACTTCCCGGGAACGCTTGCTCTTAAGTACCAGAAGCCGGCGGAGCTCTGGCTTTC
Celera SNP ID:                hCV1903631
SNP Position Transcript:      2563
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2478):
GGAGCTCTGGCTTTCGTGTTTTTGGTTTTCTCCTTCCCAAGGCAGCTGGATTGAAAAAACAAAACAAAACAAAAAAACCCAGGGGCGTCAGTCGATATTC
Y
CAGGGCCGCTTCTCCTGCAGTCTGTGGAGCGTCCTTGTCCCCGCCGCCGGAATGAATGAGCATTCTGCAGCCCGATGTCCCTGTCCCCTCCTCGCCGGGC
Celera SNP ID:                hCV16272769
SNP Position Transcript:      2749
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2479):
CACAAGCACAATTGATCTCTTTTTATCGCCATTCCAGGGGCCTCAGGTCCTACTGGGGAAACTTCCTATACCGGAGCTCCAGTTTCTCTTAAGCTGCCCA
R
TTTCACAGAGTACAAAATAGTTGTAGGGGAAATCAAGGTGAAGGATCTGTCCGACAGTCAAGACGGATCCACAGTAATCTTTCGGTCTCCTTAAACTACC
Celera SNP ID:                hCV15951245
SNP Position Transcript:      3013
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2480):
GTCTCCTTAAACTACCACCCTCGCTGCCACCCACCCCAAGCTGCTGCCGCCTCACCTTCCTTGAAATTTCTCAGCGGGAGTCTCCTCACTGCCACTAAAA
Y
CCACCCAGCCCACTAACTGAGGAGCTAGTGTTAATCCAGAGAACCCCCCGCAATGTGCTTCCGAGATTCAGACTGCTTCATTGGGAAGTATGATTTGTTC
Celera SNP ID:                hCV16272762
SNP Position Transcript:      3198
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Context              (SEQ ID NO:2481):
TTGCAATAAGATATTACCCTCAGAATATTAAGCACATTATTGTAGAGAAAAAAAAATATGTGTACACATATGAACGCACAACATGCACATTCATCCTCAC
R
TGTGGCACGTAAGGTCTCATTTGATATTGTGTAGGAAATCTGAAGCCTTTTCCTGAGGTCATCTGTAAAATAGTCTCATTGCCAAGGCATCCCCAGTGCC
Celera SNP ID:                hCV11576905
SNP Position Transcript:      3662
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4) ; no_pop(A,-|G,-) ; no_pop(A,387|G,6
27) ; no_pop(A,79|G,41)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:392, None



Gene Number:                  56
Celera Gene:                  hCG28169 - 62000133391402
Celera Transcript:            hCT19316 - 62000133391403
Public Transcript Accession:
Celera Protein:               hCP43682 - 197000064924870
Public Protein Accession:
Gene Symbol:                  POLG2
Protein Name:                  polymerase (DNA directed), gamma 2, accessory subunit
Celera Genomic Axis:          GA_x5YUV32W3KM(363776..395615)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:132):
TGGCCTCTCCGGATTCTGTTAACGGTAGTGGTGGCTTGTTGGGATCCGTTGAGTGATGGGAGAGTGTGCTCTTTAACTTCGGAGAGAGATGCGCTCTCGT
GTAGCCGTCAGGGCCTGCCATAAGGTCTGCAGGTGCCTGTTGTCTGGGTTTGGGGGTCGAGTAGATGCGGGGCAGCCGGAGCTGTTGACGGAAAGGAGTA
GCCCCAAAGGAGGGCATGTGAAGTCGCACGCGGAGCTCGAGGGGAACGGCGAGCACCCAGAAGCCCCCGGGTCTGGAGAGGGAAGCGAGGCGCTGTTAGA
GATCTGTCAGAGAAGGCATTTCCTAAGTGGAAGCAAGCAGCAGCTTAGCCGGGATTCTCTTCTGAGTGGGTGCCACCCCGGCTTCGGACCCTTGGGCGTA
GAGTTGCGGAAGAACCTGGCCGCAGAATGGTGGACCTCGGTGGTGGTGTTCAGGGAGCAGGTATTCCCGGTGGACGCCCTCCACCACAAACCAGGCCCTT
TGCTACCCGGGGACAGTGCCTTCAGGTTAGTTTCTGCAGAAACTCTACGCGAAATCTTGCAAGACAAAGAGCTGAGTAAGGAACAGCTAGTAGCATTTCT
TGAGAACGTATTAAAAACTTCTGGGAAACTACGGGAGAACCTTCTTCACGGTGCCTTGGAACACTATGTTAATTGCCTGGATCTGGTAAACAAGAGGCTA
CCTTATGGCCTTGCTCAGATTGGAGTGTGTTTTCATCCTGTTTTTGACACTAAGCAGATACGAAATGGTGTTAAAAGTATTGGTGAGAAGACTGAAGCTT
CGTTAGTATGGTTTACTCCTCCGAGAACTTCAAACCAGTGGCTTGATTTCTGGTTACGTCATCGACTCCAGTGGTGGAGAAAGTTTGCCATGAGTCCATC
TAACTTCAGCAGCAGTGACTGTCAGGATGAAGAAGGCCGGAAAGGAAACAAACTTTACTACAATTTTCCCTGGGGAAAGGAGTTAATAGAAACCCTGTGG
AACCTAGGAGATCACGAACTTTTACACATGTATCCTGGCAATGTGTCTAAATTACATGGCCGAGATGGACGAAAAAATGTGGTTCCTTGTGTTCTCTCTG
TAAATGGGGACCTAGACCGAGGCATGCTGGCCTACCTCTATGATTCTTTCCAGCTGACAGAGAACTCCTTTACAAGAAAGAAAAATCTTCATAGAAAGGT
ACTTAAACTTCACCCTTGTTTAGCCCCTATTAAGGTTGCTTTGGATGTAGGAAGAGGCCCCACATTGGAACTAAGACAGGTTTGTCAAGGGCTATTTAAT
GAGTTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGGAAACTATGCAGTCCTCATTGGAACAACTTTATTCGAAGTATGATGAAATGAGTATTC
TCTTCACAGTTTTGGTTACTGAAACTACTTTGGAGAATGGATTAATACATCTGAGAAGCAGAGACACCACAATGAAGGAAATGATGCATATATCCAAATT
AAAAGACTTTTTGATTAAGTATATATCATCAGCTAAGAATGTATAGATTTTTATATTTGTATAATAAATATTCTTCTCTCCTAATTTGGTTGTCTTATGT
TCACTTAGATTTATTTCTAGCCCCTTTGCACTTATAAAGTGGACATTTGTGGTGCTTGCTTTCATTCAGTGTTTATATTTTTTATGTCTTTCATTGTATC
AGGAATATGTTCAGCTACAAGAAACAAAAATCTACTATACTGGATTAAGCAAATTGGGGTTTGTTTTTCTTACATACAAGAACTCTAGCGGGTAGACTGT
CCAAAGCTAGTATTACTGTTTCTATAGTTAGGGACCCAGGCACTT


Protein Sequence     (SEQ ID NO:393):
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLSGSKQQLSRDSLLSGCHPGFG
PLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLV
NKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLVWFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELI
ETLWNLGDHELLHMYPGNVSKLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQ
GLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYISSAKNV*



SNP Information


Context              (SEQ ID NO:2482):
TGGCCTC
Y
CCGGATTCTGTTAACGGTAGTGGTGGCTTGTTGGGATCCGTTGAGTGATGGGAGAGTGTGCTCTTTAACTTCGGAGAGAGATGCGCTCTCGTGTAGCCGT
Celera SNP ID:                hCV25609472
SNP Position Transcript:      8
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|C,3)  african american(T,9|C,27)  total(T,46|C,30)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:393, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:393, None



Context              (SEQ ID NO:2483):
GCCCCACATTGGAACTAAGACAGGTTTGTCAAGGGCTATTTAATGAGTTACTAGAAAATGGGATTTCTGTGTGGCCTGGTTATTTGGAAACTATGCAGTC
Y
TCATTGGAACAACTTTATTCGAAGTATGATGAAATGAGTATTCTCTTCACAGTTTTGGTTACTGAAACTACTTTGGAGAATGGATTAATACATCTGAGAA
Celera SNP ID:                hCV25759092
SNP Position Transcript:      1357
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,4)  african american(T,3|C,17)  total(T,3|C,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:393, 423,(S,TCC) (S,TCT)



Context              (SEQ ID NO:2484):
GAGAGGGAAGCGAGGCGCTGTTAGAGATCTGTCAGAGAAGGCATTTCCTAAGTGGAAGCAAGCAGCAGCTTAGCCGGGATTCTCTTCTGAGTGGGTGCCA
Y
CCCGGCTTCGGACCCTTGGGCGTAGAGTTGCGGAAGAACCTGGCCGCAGAATGGTGGACCTCGGTGGTGGTGTTCAGGGAGCAGGTATTCCCGGTGGACG
Celera SNP ID:                hCV7450988
SNP Position Transcript:      376
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:393, 96,(H,CAC) (H,CAT)



Context              (SEQ ID NO:2485):
AGGCCCTTTGCTACCCGGGGACAGTGCCTTCAGGTTAGTTTCTGCAGAAACTCTACGCGAAATCTTGCAAGACAAAGAGCTGAGTAAGGAACAGCTAGTA
R
CATTTCTTGAGAACGTATTAAAAACTTCTGGGAAACTACGGGAGAACCTTCTTCACGGTGCCTTGGAACACTATGTTAATTGCCTGGATCTGGTAAACAA
Celera SNP ID:                hCV7450982
SNP Position Transcript:      593
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,640|A,96) ; no_pop(G,-|A,-) ; no_pop(G,420|A,268) ; no_pop(G,
876|A,68)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:393, 169,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2486):
AAGAATGTATAGATTTTTATATTTGTATAATAAATATTCTTCTCTCCTAATTTGGTTGTCTTATGTTCACTTAGATTTATTTCTAGCCCCTTTGCACTTA
Y
AAAGTGGACATTTGTGGTGCTTGCTTTCATTCAGTGTTTATATTTTTTATGTCTTTCATTGTATCAGGAATATGTTCAGCTACAAGAAACAAAAATCTAC
Celera SNP ID:                hCV25609473
SNP Position Transcript:      1635
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,33|C,1)  total(T,73|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:393, None



Gene Number:                  57
Celera Gene:                  hCG28898 - 116000144861368
Celera Transcript:            hCT1958819 - 116000144861369
Public Transcript Accession:  NM_003640
Celera Protein:               hCP1765593 - 197000069405633
Public Protein Accession:     NP_003631
Gene Symbol:                  IKBKAP
Protein Name:                  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
 complex-associated protein

Celera Genomic Axis:          GA_x5YUV32VU0F(11832795..11911673)
Chromosome:                   9
OMIM NUMBER:                  603722
OMIM Information:             Dysautonomia, familial, 223900 (3)


Transcript Sequence  (SEQ ID NO:133):
CGTGCGCACGCGCGCTGCTCTCAGGTCCGCAGGTTCCACCCCCCCCCCCGCCCCCCCCAATTACAGTGCTTTGGGGTTCGACATCAAAACAGAGATCAAA
TACAAAAGTTTGGGCAGATGGGCAAGAGGGCAGAGGGACAGGGGACGCGGCCAATGTAGCTCCTCTACCTCTACGGTGCCAGGCCTACAAAGAAGGCCGG
CCGCCGTAAGTGACCAGAAGCGGGCCCGGCCTCGCCCCCTCCGCCTGGTGACGTCACTCCCGCGCCGCACTCCCAGTGCTGCGGCTGCCTAGTTGACGCA
CCCATTGAGTCGCTGGCTTCTTTGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCC
GCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCG
GACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTA
TTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATG
GCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGG
TGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGAGTGTGTTGGG
AGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATT
TTGAGCCAATCCTGGAGCAGCAGATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATC
AGAAGGCAGACAAGCAGCTTTTCAGATGCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTT
TTTGCTGTGAGTGTTGTTTGCCCAGAAACAGGGGCTCGGAAGGTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGAC
TGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACT
CCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAA
GACCTTCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCA
CCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTG
GCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAG
ACTGTGGTTCCGCCTCCCATGTGCACCTACCAACTGCTGTTCCCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTG
CTGTTCTAGATGCCAGTAACCAGATTTCTGTTTATAAATGTGGTGATTGTCCAAGTGCTGACCCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATT
TAAAGTTTGCCTTAGAACTCCTCATTTGGAAAAGAGATACAAAATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTC
ACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATG
AAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCT
GGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCA
TGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAA
ATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATT
ACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTTGTGCCCCAGGACACAAAG
CTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAAACTTATGTTTAAAG
AGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTGGAAATGTGGAAACCTTCATTAAACA
GATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTAC
CTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATAC
TTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAG
TGCTGAAGAGGCCTTGAAATATTTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTA
GCTGAGAAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACT
TGAAACGATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGA
AGCTCTGAAGTTATATTCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGG
CTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACT
TTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAGTGTGC
CCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTATAGAA
ACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGG
TAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGT
GAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGC
CTCAAAGAAGGCAGTCCGCTGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTT
TAAAGGTACTCTTTCTCTTTGAGTTTGATGAACAAGGAAGGGAATTACAGAAGGCCTTTGAAGATACGCTGCAGTTGATGGAAAGGTCACTTCCAGAAAT
TTGGACTCTTACTTACCAGCAGAATTCAGCTACCCCGGTTCTAGGTCCCAATTCTACTGCAAATAGTATCATGGCATCTTATCAGCAACAGAAGACTTCG
GTTCCTGTTCTTGATGCTGAGCTTTTTATACCACCAAAGATCAACAGAAGAACCCAGTGGAAGCTGAGCCTGCTAGACTGAGTGACTGCAGTTAGGAGGG
ATCCGACAGAGAAGACCATTTCCACTCATTCCTGTTGTCCTACCACCCCTTGCTCTTTGAGGGCTGGCTATTGAGAACTGGAAAGAGTAAAATGATAACT
TACCTTAGCATTGCCAAGAACTTCAGCAGACAACAAGCAATTCTATTTATTTTATGTTGTGTATACATCTTGATCATTAGCAAGACATTAAGCTTTAACC
ATTATGGCACCATTTTGTGAGAATGATTGTTCTTTCACTTGGGCTGTTTGAGAGCATAATTATGGTAATCATGAGATTAATGTTTCATGATTTCTACCTC
CAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAAT
CACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATC
TTACCAGGTCATGTGCTTTCAGTTATAACTGGGCTGAGCCTCCTATAATTACAATGTCTATAGGGACTGTTTTACTGCCTGTGTATTTTCTGCTAGAGAG
TTAGCAATGTTAGAGCTAGAACAGATTAGAATTTCTAAACAGTATCATGCACAGTTGGTGTGAGTGATCAGTGTGCATTGTATGGCATGCATGGTTGTGA
ATTATTCTCTGTTCTCCAAATACTGTTTCTTTAACTCAGATATTTTTGTTAGTGTCTAGGCCACTTCATTTATTTTTCGTCATGGTACTTTACTGACTTC
TCTTTATTCAATTCTCCACGCCCTCACCAAAAAAAACTGTCTCAAAATGAGAATATTTTATTTTCATGGTGAGTCTAGAAAACGCCCACTTCATTCTGAT
TAAAAATTCTTCCATGTTTTAAATATCAGAACCAGACCTTTCTTACTGTGTATCTTAGCCCATTTGTGTCTCTATAACAACAACCAGCTTTCAAAGGAAC
TAATAGAGTGAAAACTCACTCATTACCACGAGGATGGCACAAGCGATTCACGTAGGATCTGCCCCTGTGACCAAAACACCTCCCATTGGGCCCCACTTCC
AACACTGGTGATCACATTTCAACATGAGGTTTAGGGAAACAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAA
AGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAAC
TTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTAC
ATGGGTTTGCTGTAATTAAGTGCCCAATATTGAAAGGCTGCAAGTACTTTGTAATCACTCTTTGGCATGGGTAAATAAGCATGGTAACTTATATTGAAAT
ATAGTGCTCTTGCTTTGGATAACTGTAAAGGGACCCATGCTGATAGACTGGAAATAGAAGTAAATGTGTTTATTGATAA


Protein Sequence     (SEQ ID NO:394):
MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQ
QLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTW
RGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV
LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVL
VTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNP
LKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP
VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTV
VPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAP
VTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF
DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEH
MYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYN
RLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKA
ERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASY
QQQKTSVPVLDAELFIPPKINRRTQWKLSLLD*



SNP Information


Context              (SEQ ID NO:2487):
TACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAA
R
AAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAA
Celera SNP ID:                hCV11720303
SNP Position Transcript:      1516
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 312,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2488):
CGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCT
S
TTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTG
Celera SNP ID:                hCV15879225
SNP Position Transcript:      512
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1313|C,175) ; no_pop(G,-|C,-) ; no_pop(G,112|C,8)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2489):
GGCCTACAAAGAAGGCCGGCCGCCGTAAGTGACCAGAAGCGGGCCCGGCCTCGCCCCCTCCGCCTGGTGACGTCACTCCCGCGCCGCACTCCCAGTGCTG
S
GGCTGCCTAGTTGACGCACCCATTGAGTCGCTGGCTTCTTTGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTC
Celera SNP ID:                hCV15879296
SNP Position Transcript:      282
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2490):
CATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTCAGA
W
GCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAA
Celera SNP ID:                hCV29800267
SNP Position Transcript:      1127
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 182,(M,ATG) (K,AAG)



Context              (SEQ ID NO:2491):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hDV68539590
SNP Position Transcript:      2468
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 629,(R,CGC) (H,CAC)



Context              (SEQ ID NO:2492):
AAGAGTGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGA
K
ATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAAC
Celera SNP ID:                hCV11720307
SNP Position Transcript:      3891
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1103,(D,GAT) (E,GAG)



Context              (SEQ ID NO:2493):
TAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAG
W
GTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTAT
Celera SNP ID:                hCV25970515
SNP Position Transcript:      3796
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,208|A,3
2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1072,(C,TGT) (S,AGT)



Context              (SEQ ID NO:2494):
AATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACC
S
CAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCT
Celera SNP ID:                hCV25966183
SNP Position Transcript:      3127
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 849,(P,CCA) (A,GCA)



Context              (SEQ ID NO:2495):
GTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAA
M
TAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCC
Celera SNP ID:                hCV15853498
SNP Position Transcript:      3028
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|A,40)  african american(C,14|A,24)  total(C,14|A,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 816,(I,ATA) (L,CTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|A,55)  african american(C,|A,)  total(C,15|A,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 816,(I,ATA) (L,CTA)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 816,(I,ATA) (L,CTA)



Context              (SEQ ID NO:2496):
CTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGT
R
GGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCA
Celera SNP ID:                hCV26000584
SNP Position Transcript:      1725
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,36|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 381,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2497):
TTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAAC
Y
CATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGC
Celera SNP ID:                hCV15853497
SNP Position Transcript:      2547
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 655,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,58)  african american(T,|C,)  total(T,8|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 655,(T,ACC) (T,ACT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 655,(T,ACC) (T,ACT)



Context              (SEQ ID NO:2498):
TCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGC
R
GTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGG
Celera SNP ID:                hCV25956023
SNP Position Transcript:      868
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 96,(S,AGT) (G,GGT)



Context              (SEQ ID NO:2499):
TTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCT
S
ACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGG
Celera SNP ID:                hCV375448
SNP Position Transcript:      3651
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,17)  african american(G,30|C,6)  total(G,53|C,23)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 1023,(L,CTG) (L,CTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,38)  african american(G,|C,)  total(G,38|C,38)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 1023,(L,CTG) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,2) ; no_pop(G,-|C,-) ; no_pop(G,504|C,
160)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 1023,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2500):
TGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACAC
R
AGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAAT
Celera SNP ID:                hCV25996379
SNP Position Transcript:      1352
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 257,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2501):
GAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACG
R
CTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCC
Celera SNP ID:                hCV26000610
SNP Position Transcript:      1711
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 377,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2502):
CCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCA
W
ATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTAC
Celera SNP ID:                hCV15853503
SNP Position Transcript:      3437
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 952,(K,AAA) (I,ATA)



Context              (SEQ ID NO:2503):
TGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTG
R
AAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCT
Celera SNP ID:                hCV15879259
SNP Position Transcript:      2876
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,12)  total(G,65|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 765,(G,GGA) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,59|A,17)  african american(G,|A,)  total(G,59|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 765,(G,GGA) (E,GAA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,860) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 765,(G,GGA) (E,GAA)



Context              (SEQ ID NO:2504):
CTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTT
Y
ACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAG
Celera SNP ID:                hCV25999962
SNP Position Transcript:      1416
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,26)  african american(T,1|C,11)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 278,(F,TTT) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,52)  african american(T,|C,)  total(T,2|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 278,(F,TTT) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 278,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2505):
GGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATA
S
TTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCT
Celera SNP ID:                hCV25962666
SNP Position Transcript:      552
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2506):
TCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGC
K
GACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTA
Celera SNP ID:                hCV15879306
SNP Position Transcript:      457
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2507):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hDV68539582
SNP Position Transcript:      3795
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1071,(E,GAG) (D,GAC)



Context              (SEQ ID NO:2508):
ACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGC
R
GTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGT
Celera SNP ID:                hCV15853504
SNP Position Transcript:      3619
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1013,(G,GGT) (S,AGT)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1013,(G,GGT) (S,AGT)



Context              (SEQ ID NO:2509):
GACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTAC
Y
CCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCG
Celera SNP ID:                hCV375442
SNP Position Transcript:      4055
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,462|T,90) ; no_pop(C,760|T,226) ; no_pop(C,-|T,-) ; no_pop(C,
210|T,30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1158,(P,CCC) (L,CTC)



Context              (SEQ ID NO:2510):
AAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAA
M
CCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTG
Celera SNP ID:                hCV31954518
SNP Position Transcript:      3125
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 848,(T,ACC) (N,AAC)



Context              (SEQ ID NO:2511):
TGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCG
M
TGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTT
Celera SNP ID:                hCV8779777
SNP Position Transcript:      4219
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1213,(L,CTG) (M,ATG)



Context              (SEQ ID NO:2512):
TCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTT
R
CGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTG
Celera SNP ID:                hDV68539585
SNP Position Transcript:      3617
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 1012,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:2513):
ACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCAT
R
AATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAA
Celera SNP ID:                hCV15853499
SNP Position Transcript:      3072
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 830,(I,ATA) (M,ATG)



Context              (SEQ ID NO:2514):
TGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACC
K
TCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAAT
Celera SNP ID:                hCV25969190
SNP Position Transcript:      2340
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|G,1)  african american(T,32|G,0)  total(T,69|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 586,(P,CCT) (P,CCG)



Context              (SEQ ID NO:2515):
AGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCT
Y
CCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTC
Celera SNP ID:                hCV15853485
SNP Position Transcript:      771
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,37)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 63,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,72)  african american(T,|C,)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 63,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,76)  african american(T,|C,)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 63,(L,CTC) (L,CTT)



Context              (SEQ ID NO:2516):
TTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCAC
S
GATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATT
Celera SNP ID:                hCV27531038
SNP Position Transcript:      2669
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 696,(R,CGG) (P,CCG)



Context              (SEQ ID NO:2517):
TTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGC
Y
GCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGA
Celera SNP ID:                hCV27509811
SNP Position Transcript:      790
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 70,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2518):
AATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCC
R
GTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATC
Celera SNP ID:                hCV8779778
SNP Position Transcript:      2156
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 525,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2519):
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
R
ATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTC
Celera SNP ID:                hCV8057200
SNP Position Transcript:      1023
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,32|A,4)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 147,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,67|A,7)  african american(G,|A,)  total(G,67|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 147,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2462|A,538) ; no_pop(G,16|A,2) ; no_pop(G,-|A,-) ; no_pop(G,1
866|A,198)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 147,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:2520):
AAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAAC
R
ATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTG
Celera SNP ID:                hDV68539586
SNP Position Transcript:      3407
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 942,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2521):
CATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACC
Y
TCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGT
Celera SNP ID:                hDV68539595
SNP Position Transcript:      1505
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 308,(L,CTT) (P,CCT)



Context              (SEQ ID NO:2522):
AGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCAC
R
TCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCG
Celera SNP ID:                hCV25964025
SNP Position Transcript:      2508
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 642,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,61|A,7)  african american(G,|A,)  total(G,61|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 642,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 642,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2523):
GAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGG
Y
TGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGC
Celera SNP ID:                hCV25993956
SNP Position Transcript:      2303
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 574,(A,GCT) (V,GTT)



Context              (SEQ ID NO:2524):
TCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGA
Y
CTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCC
Celera SNP ID:                hCV31954473
SNP Position Transcript:      4074


Context              (SEQ ID NO:2525):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hCV31954501
SNP Position Transcript:      3795


Context              (SEQ ID NO:2526):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hCV31954526
SNP Position Transcript:      2468


Context              (SEQ ID NO:2527):
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
Y
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
Celera SNP ID:                hCV32387852
SNP Position Transcript:      3323
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:394, 914,(L,CTC) (P,CCC)



Context              (SEQ ID NO:2528):
TGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGG
Y
TGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGC
Celera SNP ID:                hCV32387855
SNP Position Transcript:      1657
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:394, 359,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2529):
GAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCT
R
TTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTT
Celera SNP ID:                hCV31954458
SNP Position Transcript:      4973
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2530):
AGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTC
W
TGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGC
Celera SNP ID:                hCV11720313
SNP Position Transcript:      5016
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2531):
CAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTT
S
CCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGT
Celera SNP ID:                hCV31954457
SNP Position Transcript:      5840
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2532):
AAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTG
Y
CAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTT
Celera SNP ID:                hCV31954456
SNP Position Transcript:      5841
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:394, None



Context              (SEQ ID NO:2533):
AAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCT
M
ATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTG
Celera SNP ID:                hCV27979356
SNP Position Transcript:      5932
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:394, None



Gene Number:                  57
Celera Gene:                  hCG28898 - 116000144861368
Celera Transcript:            hCT1958820 - 116000144861410
Public Transcript Accession:  NM_003640
Celera Protein:               hCP1765579 - 197000069405634
Public Protein Accession:     NP_003631
Gene Symbol:                  IKBKAP
Protein Name:                  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
 complex-associated protein

Celera Genomic Axis:          GA_x5YUV32VU0F(11832795..11911673)
Chromosome:                   9
OMIM NUMBER:                  603722
OMIM Information:             Dysautonomia, familial, 223900 (3)


Transcript Sequence  (SEQ ID NO:134):
ATGGCGACCTCCGGCGCCGCCACCCCCGCCCTCCGGGACCCCAGCGCTTCCTCCGCGCAGCCCGGACTGGGCGTGCTCTTCCGGCGCACAGCGCGTGTCG
TGCGCACGCGCGCTGCTCTCAGGTCCGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGA
GCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGG
CCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGG
ATATTCAAGGTCCAGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGT
CTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAG
GAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTG
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
GATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTT
CAGATGCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCC
CAGAAACAGGGGCTCGGAAGGTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAA
ACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTT
CCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAGAAAGCT
CCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGT
GTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGC
GTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGT
GCACCTACCAACTGCTGTTCCCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTGCTGTTCTAGATGCCAGTAACCA
GATTTCTGTTTATAAATGTGGTGATTGTCCAAGTGCTGACCCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATTTAAAGTTTGCCTTAGAACTCCT
CATTTGGAAAAGAGATACAAAATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCT
TCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGT
CAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAG
TACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCA
TGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATA
TGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAAT
CATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGG
GAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACC
AGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCAT
AAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCT
CTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTT
TGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGG
TTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAG
ATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCA
CATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGT
GTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCA
TGGTTTTGGAAGAGTGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAA
CAGACTGGATATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGGTGAGGGTTCCATTTTAGATAGAATTCCTCATTTGGAAGAAGCCCAGAAAAAT
TATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTC
TGGATGATGAGGTACCCCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAA
CTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCGCTGGAGGACCTGGCCCTCCTG
GAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTTTGAGTTTGATGAACAAGGAA
GGGAATTACAGAAGGCCTTTGAAGATACGCTGCAGTTGATGGAAAGGTCACTTCCAGAAATTTGGACTCTTACTTACCAGCAGAATTCAGCTACCCCGGT
TCTAGGTCCCAATTCTACTGCAAATAGTATCATGGCATCTTATCAGCAACAGAAGACTTCGGTTCCTGTTCTTGATGCTGAGCTTTTTATACCACCAAAG
ATCAACAGAAGAACCCAGTGGAAGCTGAGCCTGCTAGACTGAGTGACTGCAGTTAGGAGGGATCCGACAGAGAAGACCATTTCCACTCATTCCTGTTGTC
CTACCACCCCTTGCTCTTTGAGGGCTGGCTATTGAGAACTGGAAAGAGTAAAATGATAACTTACCTTAGCATTGCCAAGAACTTCAGCAGACAACAAGCA
ATTCTATTTATTTTATGTTGTGTATACATCTTGATCATTAGCAAGACATTAAGCTTTAACCATTATGGCACCATTTTGTGAGAATGATTGTTCTTTCACT
TGGGCTGTTTGAGAGCATAATTATGGTAATCATGAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGT
CTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAA
TAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGCTTTCAGTTATAACTGGGCTGAGC
CTCCTATAATTACAATGTCTATAGGGACTGTTTTACTGCCTGTGTATTTTCTGCTAGAGAGTTAGCAATGTTAGAGCTAGAACAGATTAGAATTTCTAAA
CAGTATCATGCACAGTTGGTGTGAGTGATCAGTGTGCATTGTATGGCATGCATGGTTGTGAATTATTCTCTGTTCTCCAAATACTGTTTCTTTAACTCAG
ATATTTTTGTTAGTGTCTAGGCCACTTCATTTATTTTTCGTCATGGTACTTTACTGACTTCTCTTTATTCAATTCTCCACGCCCTCACCAAAAAAAACTG
TCTCAAAATGAGAATATTTTATTTTCATGGTGAGTCTAGAAAACGCCCACTTCATTCTGATTAAAAATTCTTCCATGTTTTAAATATCAGAACCAGACCT
TTCTTACTGTGTATCTTAGCCCATTTGTGTCTCTATAACAACAACCAGCTTTCAAAGGAACTAATAGAGTGAAAACTCACTCATTACCACGAGGATGGCA
CAAGCGATTCACGTAGGATCTGCCCCTGTGACCAAAACACCTCCCATTGGGCCCCACTTCCAACACTGGTGATCACATTTCAACATGAGGTTTAGGGAAA
CAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTT
GCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAG
TTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTGAAAGGCT
GCAAGTACTTTGTAATCACTCTTTGGCATGGGTAAATAAGCATGGTAACTTATATTGAAATATAGTGCTCTTGCTTTGGATAACTGTAAAGGGACCCATG
CTGATAGACTGGAAATAGAAGTAAATGTGTTTATTGATAA


Protein Sequence     (SEQ ID NO:395):
MATSGAATPALRDPSASSAQPGLGVLFRRTARVVRTRAALRSAALQRFPLEGASILGGLVPSEREREPRTETRAQFGADSGCGLWELTLGSRLRVAGEAR
PDAPLFGGPQLYLSRGNHFIMRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQ
ESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF
QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTL
PFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRS
VGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP
HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFK
YLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSN
HVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPH
KYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQR
FTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALC
VAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEGEGSILDRIPHLEEAQKN
YMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALL
EALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPK
INRRTQWKLSLLD*



SNP Information


Context              (SEQ ID NO:2534):
TACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAA
R
AAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAA
Celera SNP ID:                hCV11720303
SNP Position Transcript:      1294
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 432,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2535):
CGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCT
S
TTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAG
Celera SNP ID:                hCV15879225
SNP Position Transcript:      315
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1313|C,175) ; no_pop(G,-|C,-) ; no_pop(G,112|C,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 105,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2536):
CATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTCAGA
W
GCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAA
Celera SNP ID:                hCV29800267
SNP Position Transcript:      905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 302,(M,ATG) (K,AAG)



Context              (SEQ ID NO:2537):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hDV68539590
SNP Position Transcript:      2246
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 749,(R,CGC) (H,CAC)



Context              (SEQ ID NO:2538):
AAGAGTGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGA
K
ATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGGTGAGGGTTCCATTTTAGATAGAATTCCTCATTTGGAAGAAGCCCAGAAAAATTATATGGCAT
Celera SNP ID:                hCV11720307
SNP Position Transcript:      3510
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1170,(D,GAT) (E,GAG)



Context              (SEQ ID NO:2539):
TAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAG
W
GTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTAT
Celera SNP ID:                hCV25970515
SNP Position Transcript:      3415
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,208|A,3
2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1139,(C,TGT) (S,AGT)



Context              (SEQ ID NO:2540):
AATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACC
S
CAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCT
Celera SNP ID:                hCV25966183
SNP Position Transcript:      2746
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 916,(P,CCA) (A,GCA)



Context              (SEQ ID NO:2541):
TCGGAAGTGGTTGGACAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAA
M
TAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCC
Celera SNP ID:                hCV15853498
SNP Position Transcript:      2647
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|A,40)  african american(C,14|A,24)  total(C,14|A,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 883,(I,ATA) (L,CTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|A,55)  african american(C,|A,)  total(C,15|A,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 883,(I,ATA) (L,CTA)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 883,(I,ATA) (L,CTA)



Context              (SEQ ID NO:2542):
CTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGT
R
GGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCA
Celera SNP ID:                hCV26000584
SNP Position Transcript:      1503
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,36|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 501,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2543):
TTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAAC
Y
CATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGC
Celera SNP ID:                hCV15853497
SNP Position Transcript:      2325
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 775,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,58)  african american(T,|C,)  total(T,8|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 775,(T,ACC) (T,ACT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 775,(T,ACC) (T,ACT)



Context              (SEQ ID NO:2544):
TCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGC
R
GTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGG
Celera SNP ID:                hCV25956023
SNP Position Transcript:      646
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 216,(S,AGT) (G,GGT)



Context              (SEQ ID NO:2545):
TTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCT
S
ACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGG
Celera SNP ID:                hCV375448
SNP Position Transcript:      3270
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,17)  african american(G,30|C,6)  total(G,53|C,23)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 1090,(L,CTG) (L,CTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,38)  african american(G,|C,)  total(G,38|C,38)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 1090,(L,CTG) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,2) ; no_pop(G,-|C,-) ; no_pop(G,504|C,
160)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 1090,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2546):
TGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACAC
R
AGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAAT
Celera SNP ID:                hCV25996379
SNP Position Transcript:      1130
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 377,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2547):
GAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACG
R
CTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCC
Celera SNP ID:                hCV26000610
SNP Position Transcript:      1489
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 497,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2548):
CCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCA
W
ATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTAC
Celera SNP ID:                hCV15853503
SNP Position Transcript:      3056
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1019,(K,AAA) (I,ATA)



Context              (SEQ ID NO:2549):
CTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTT
Y
ACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAG
Celera SNP ID:                hCV25999962
SNP Position Transcript:      1194
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,26)  african american(T,1|C,11)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 398,(F,TTT) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,52)  african american(T,|C,)  total(T,2|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 398,(F,TTT) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 398,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2550):
TCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGC
K
GACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATC
Celera SNP ID:                hCV15879306
SNP Position Transcript:      260
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 87,(L,CTG) (R,CGG)



Context              (SEQ ID NO:2551):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hDV68539582
SNP Position Transcript:      3414
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1138,(E,GAG) (D,GAC)



Context              (SEQ ID NO:2552):
ACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGC
R
GTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGT
Celera SNP ID:                hCV15853504
SNP Position Transcript:      3238
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1080,(G,GGT) (S,AGT)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1080,(G,GGT) (S,AGT)



Context              (SEQ ID NO:2553):
GACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTAC
Y
CCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCG
Celera SNP ID:                hCV375442
SNP Position Transcript:      3716
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,462|T,90) ; no_pop(C,760|T,226) ; no_pop(C,-|T,-) ; no_pop(C,
210|T,30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1239,(P,CCC) (L,CTC)



Context              (SEQ ID NO:2554):
AAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAA
M
CCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTG
Celera SNP ID:                hCV31954518
SNP Position Transcript:      2744
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 915,(T,ACC) (N,AAC)



Context              (SEQ ID NO:2555):
TGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCG
M
TGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTT
Celera SNP ID:                hCV8779777
SNP Position Transcript:      3880
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1294,(L,CTG) (M,ATG)



Context              (SEQ ID NO:2556):
TCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTT
R
CGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTG
Celera SNP ID:                hDV68539585
SNP Position Transcript:      3236
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1079,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:2557):
ACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCAT
R
AATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAA
Celera SNP ID:                hCV15853499
SNP Position Transcript:      2691
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 897,(I,ATA) (M,ATG)



Context              (SEQ ID NO:2558):
TGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACC
K
TCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAAT
Celera SNP ID:                hCV25969190
SNP Position Transcript:      2118
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|G,1)  african american(T,32|G,0)  total(T,69|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 706,(P,CCT) (P,CCG)



Context              (SEQ ID NO:2559):
AGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCT
Y
CCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTC
Celera SNP ID:                hCV15853485
SNP Position Transcript:      549
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,37)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,72)  african american(T,|C,)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,76)  african american(T,|C,)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 183,(L,CTC) (L,CTT)



Context              (SEQ ID NO:2560):
TTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCAC
S
GATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATT
Celera SNP ID:                hCV27531038
SNP Position Transcript:      2447
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 816,(R,CGG) (P,CCG)



Context              (SEQ ID NO:2561):
TTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGC
Y
GCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGA
Celera SNP ID:                hCV27509811
SNP Position Transcript:      568
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 190,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2562):
AATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCC
R
GTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATC
Celera SNP ID:                hCV8779778
SNP Position Transcript:      1934
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 645,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2563):
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
R
ATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTC
Celera SNP ID:                hCV8057200
SNP Position Transcript:      801
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,32|A,4)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 267,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,67|A,7)  african american(G,|A,)  total(G,67|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 267,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2462|A,538) ; no_pop(G,16|A,2) ; no_pop(G,-|A,-) ; no_pop(G,1
866|A,198)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 267,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:2564):
AAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAAC
R
ATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTG
Celera SNP ID:                hDV68539586
SNP Position Transcript:      3026
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 1009,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2565):
CATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACC
Y
TCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGT
Celera SNP ID:                hDV68539595
SNP Position Transcript:      1283
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 428,(L,CTT) (P,CCT)



Context              (SEQ ID NO:2566):
AGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCAC
R
TCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCG
Celera SNP ID:                hCV25964025
SNP Position Transcript:      2286
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 762,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,61|A,7)  african american(G,|A,)  total(G,61|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 762,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 762,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2567):
GAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGG
Y
TGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGC
Celera SNP ID:                hCV25993956
SNP Position Transcript:      2081
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 694,(A,GCT) (V,GTT)



Context              (SEQ ID NO:2568):
TCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGA
Y
CTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCC
Celera SNP ID:                hCV31954473
SNP Position Transcript:      3735


Context              (SEQ ID NO:2569):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hCV31954501
SNP Position Transcript:      3414


Context              (SEQ ID NO:2570):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hCV31954526
SNP Position Transcript:      2246


Context              (SEQ ID NO:2571):
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
Y
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
Celera SNP ID:                hCV32387852
SNP Position Transcript:      2942
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:395, 981,(L,CTC) (P,CCC)



Context              (SEQ ID NO:2572):
TGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGG
Y
TGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGC
Celera SNP ID:                hCV32387855
SNP Position Transcript:      1435
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:395, 479,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2573):
AGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAG
S
TGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCTT
Celera SNP ID:                hCV25962666
SNP Position Transcript:      331
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:395, None



Context              (SEQ ID NO:2574):
GAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCT
R
TTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTT
Celera SNP ID:                hCV31954458
SNP Position Transcript:      4634
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:395, None



Context              (SEQ ID NO:2575):
AGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTC
W
TGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGC
Celera SNP ID:                hCV11720313
SNP Position Transcript:      4677
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:395, None



Context              (SEQ ID NO:2576):
CAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTT
S
CCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGT
Celera SNP ID:                hCV31954457
SNP Position Transcript:      5501
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:395, None



Context              (SEQ ID NO:2577):
AAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTG
Y
CAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTT
Celera SNP ID:                hCV31954456
SNP Position Transcript:      5502
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:395, None



Context              (SEQ ID NO:2578):
AAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCT
M
ATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTG
Celera SNP ID:                hCV27979356
SNP Position Transcript:      5593
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:395, None



Gene Number:                  57
Celera Gene:                  hCG28898 - 116000144861368
Celera Transcript:            hCT20054 - 116000144861450
Public Transcript Accession:  NM_003640
Celera Protein:               hCP44240 - 197000069405635
Public Protein Accession:     NP_003631
Gene Symbol:                  IKBKAP
Protein Name:                  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
 complex-associated protein

Celera Genomic Axis:          GA_x5YUV32VU0F(11832795..11911673)
Chromosome:                   9
OMIM NUMBER:                  603722
OMIM Information:             Dysautonomia, familial, 223900 (3)


Transcript Sequence  (SEQ ID NO:135):
CGTGCGCACGCGCGCTGCTCTCAGGTCCGCAGGTTCCACCCCCCCCCCCGCCCCCCCCAATTACAGTGCTTTGGGGTTCGACATCAAAACAGAGATCAAA
TACAAAAGTTTGGGCAGATGGGCAAGAGGGCAGAGGGACAGGGGACGCGGCCAATGTAGCTCCTCTACCTCTACGGTGCCAGGCCTACAAAGAAGGCCGG
CCGCCGTAAGTGACCAGAAGCGGGCCCGGCCTCGCCCCCTCCGCCTGGTGACGTCACTCCCGCGCCGCACTCCCAGTGCTGCGGCTGCCTAGTTGACGCA
CCCATTGAGTCGCTGGCTTCTTTGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCC
GCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCG
GACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTA
TTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATG
GCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGG
TGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGAGTGTGTTGGG
AGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATT
TTGAGCCAATCCTGGAGCAGCAGATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATC
AGAAGGCAGACAAGCAGCTTTTCAGATGCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTT
TTTGCTGTGAGTGTTGTTTGCCCAGAAACAGGGGCTCGGAAGGTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGAC
TGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACT
CCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAA
GACCTTCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCA
CCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTG
GCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAG
ACTGTGGTTCCGCCTCCCATGTGCACCTACCAACTGCTGTTCCCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTG
CTGTTCTAGATGCCAGTAACCAGATTTCTGTTTATAAATGTGGTGATTGTCCAAGTGCTGACCCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATT
TAAAGTTTGCCTTAGAACTCCTCATTTGGAAAAGAGATACAAAATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTC
ACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATG
AAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCT
GGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCA
TGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAA
ATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATT
ACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTTGTGCCCCAGGACACAAAG
CTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAAACTTATGTTTAAAG
AGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTGGAAATGTGGAAACCTTCATTAAACA
GATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTAC
CTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATAC
TTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAG
TGCTGAAGAGGCCTTGAAATATTTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTA
GCTGAGAAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACT
TGAAACGATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGA
AGCTCTGAAGTTATATTCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGG
CTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACT
TTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATA
CAAATATAACAGACTGGATATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACA
TTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAG
ACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCG
CCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCGCTGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAA
AACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTTTGAGTTTGATGAACAAGGAAGGGAATTACAGAAGGCCTTTGAAGATACGCTGC
AGTTGATGGAAAGGTCACTTCCAGAAATTTGGACTCTTACTTACCAGCAGAATTCAGCTACCCCGGTTCTAGGTCCCAATTCTACTGCAAATAGTATCAT
GGCATCTTATCAGCAACAGAAGACTTCGGTTCCTGTTCTTGATGCTGAGCTTTTTATACCACCAAAGATCAACAGAAGAACCCAGTGGAAGCTGAGCCTG
CTAGACTGAGTGACTGCAGTTAGGAGGGATCCGACAGAGAAGACCATTTCCACTCATTCCTGTTGTCCTACCACCCCTTGCTCTTTGAGGGCTGGCTATT
GAGAACTGGAAAGAGTAAAATGATAACTTACCTTAGCATTGCCAAGAACTTCAGCAGACAACAAGCAATTCTATTTATTTTATGTTGTGTATACATCTTG
ATCATTAGCAAGACATTAAGCTTTAACCATTATGGCACCATTTTGTGAGAATGATTGTTCTTTCACTTGGGCTGTTTGAGAGCATAATTATGGTAATCAT
GAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCT
ATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCT
TTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGCTTTCAGTTATAACTGGGCTGAGCCTCCTATAATTACAATGTCTATAGGGACTGTTT
TACTGCCTGTGTATTTTCTGCTAGAGAGTTAGCAATGTTAGAGCTAGAACAGATTAGAATTTCTAAACAGTATCATGCACAGTTGGTGTGAGTGATCAGT
GTGCATTGTATGGCATGCATGGTTGTGAATTATTCTCTGTTCTCCAAATACTGTTTCTTTAACTCAGATATTTTTGTTAGTGTCTAGGCCACTTCATTTA
TTTTTCGTCATGGTACTTTACTGACTTCTCTTTATTCAATTCTCCACGCCCTCACCAAAAAAAACTGTCTCAAAATGAGAATATTTTATTTTCATGGTGA
GTCTAGAAAACGCCCACTTCATTCTGATTAAAAATTCTTCCATGTTTTAAATATCAGAACCAGACCTTTCTTACTGTGTATCTTAGCCCATTTGTGTCTC
TATAACAACAACCAGCTTTCAAAGGAACTAATAGAGTGAAAACTCACTCATTACCACGAGGATGGCACAAGCGATTCACGTAGGATCTGCCCCTGTGACC
AAAACACCTCCCATTGGGCCCCACTTCCAACACTGGTGATCACATTTCAACATGAGGTTTAGGGAAACAAATGCCTAAACTACAGCACTGTACATAAACT
AACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAA
TCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTG
CTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTGAAAGGCTGCAAGTACTTTGTAATCACTCTTTGGCATGGGT
AAATAAGCATGGTAACTTATATTGAAATATAGTGCTCTTGCTTTGGATAACTGTAAAGGGACCCATGCTGATAGACTGGAAATAGAAGTAAATGTGTTTA
TTGATAA


Protein Sequence     (SEQ ID NO:396):
MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQ
QLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTW
RGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV
LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVL
VTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQFENNEDQDVNP
LKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP
VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTV
VPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHINLFFTELKEEDVTKTMYPAP
VTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF
DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEH
MYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFL
DSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSE
VVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRT
QWKLSLLD*



SNP Information


Context              (SEQ ID NO:2579):
TACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAA
R
AAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAA
Celera SNP ID:                hCV11720303
SNP Position Transcript:      1516
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 312,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2580):
CGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCT
S
TTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTG
Celera SNP ID:                hCV15879225
SNP Position Transcript:      512
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1313|C,175) ; no_pop(G,-|C,-) ; no_pop(G,112|C,8)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2581):
GGCCTACAAAGAAGGCCGGCCGCCGTAAGTGACCAGAAGCGGGCCCGGCCTCGCCCCCTCCGCCTGGTGACGTCACTCCCGCGCCGCACTCCCAGTGCTG
S
GGCTGCCTAGTTGACGCACCCATTGAGTCGCTGGCTTCTTTGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTC
Celera SNP ID:                hCV15879296
SNP Position Transcript:      282
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2582):
CATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTCAGA
W
GCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAA
Celera SNP ID:                hCV29800267
SNP Position Transcript:      1127
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 182,(M,ATG) (K,AAG)



Context              (SEQ ID NO:2583):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hDV68539590
SNP Position Transcript:      2468
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 629,(R,CGC) (H,CAC)



Context              (SEQ ID NO:2584):
TGGGCCTCGGCAGAACTCTGGCAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGA
K
ATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAAC
Celera SNP ID:                hCV11720307
SNP Position Transcript:      3819
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1079,(D,GAT) (E,GAG)



Context              (SEQ ID NO:2585):
AATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACC
S
CAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCT
Celera SNP ID:                hCV25966183
SNP Position Transcript:      3127
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 849,(P,CCA) (A,GCA)



Context              (SEQ ID NO:2586):
GTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAA
M
TAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCC
Celera SNP ID:                hCV15853498
SNP Position Transcript:      3028
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|A,40)  african american(C,14|A,24)  total(C,14|A,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 816,(I,ATA) (L,CTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|A,55)  african american(C,|A,)  total(C,15|A,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 816,(I,ATA) (L,CTA)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 816,(I,ATA) (L,CTA)



Context              (SEQ ID NO:2587):
CTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGT
R
GGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCA
Celera SNP ID:                hCV26000584
SNP Position Transcript:      1725
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,36|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 381,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2588):
TTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAAC
Y
CATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGC
Celera SNP ID:                hCV15853497
SNP Position Transcript:      2547
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 655,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,58)  african american(T,|C,)  total(T,8|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 655,(T,ACC) (T,ACT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 655,(T,ACC) (T,ACT)



Context              (SEQ ID NO:2589):
TCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGC
R
GTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGG
Celera SNP ID:                hCV25956023
SNP Position Transcript:      868
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 96,(S,AGT) (G,GGT)



Context              (SEQ ID NO:2590):
TTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCT
S
ACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGAAGCTGTGC
Celera SNP ID:                hCV375448
SNP Position Transcript:      3651
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,17)  african american(G,30|C,6)  total(G,53|C,23)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 1023,(L,CTG) (L,CTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,38)  african american(G,|C,)  total(G,38|C,38)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 1023,(L,CTG) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,2) ; no_pop(G,-|C,-) ; no_pop(G,504|C,
160)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 1023,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2591):
TGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACAC
R
AGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAAT
Celera SNP ID:                hCV25996379
SNP Position Transcript:      1352
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 257,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2592):
GAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACG
R
CTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCC
Celera SNP ID:                hCV26000610
SNP Position Transcript:      1711
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 377,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2593):
CCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCA
W
ATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTAC
Celera SNP ID:                hCV15853503
SNP Position Transcript:      3437
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 952,(K,AAA) (I,ATA)



Context              (SEQ ID NO:2594):
TGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTG
R
AAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCT
Celera SNP ID:                hCV15879259
SNP Position Transcript:      2876
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,12)  total(G,65|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 765,(G,GGA) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,59|A,17)  african american(G,|A,)  total(G,59|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 765,(G,GGA) (E,GAA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,860) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 765,(G,GGA) (E,GAA)



Context              (SEQ ID NO:2595):
CTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTT
Y
ACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAG
Celera SNP ID:                hCV25999962
SNP Position Transcript:      1416
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,26)  african american(T,1|C,11)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 278,(F,TTT) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,52)  african american(T,|C,)  total(T,2|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 278,(F,TTT) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 278,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2596):
GGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATA
S
TTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCT
Celera SNP ID:                hCV25962666
SNP Position Transcript:      552
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2597):
TCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGC
K
GACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGAGATTAATGATTCATCAAGGGATAGTTGTA
Celera SNP ID:                hCV15879306
SNP Position Transcript:      457
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2598):
ACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGC
R
GTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGT
Celera SNP ID:                hCV15853504
SNP Position Transcript:      3619
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1013,(G,GGT) (S,AGT)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1013,(G,GGT) (S,AGT)



Context              (SEQ ID NO:2599):
GACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTAC
Y
CCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCG
Celera SNP ID:                hCV375442
SNP Position Transcript:      3983
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,462|T,90) ; no_pop(C,760|T,226) ; no_pop(C,-|T,-) ; no_pop(C,
210|T,30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1134,(P,CCC) (L,CTC)



Context              (SEQ ID NO:2600):
AAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAA
M
CCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTG
Celera SNP ID:                hCV31954518
SNP Position Transcript:      3125
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 848,(T,ACC) (N,AAC)



Context              (SEQ ID NO:2601):
TGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCG
M
TGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTT
Celera SNP ID:                hCV8779777
SNP Position Transcript:      4147
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1189,(L,CTG) (M,ATG)



Context              (SEQ ID NO:2602):
TCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTT
R
CGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTG
Celera SNP ID:                hDV68539585
SNP Position Transcript:      3617
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 1012,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:2603):
ACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCAT
R
AATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAA
Celera SNP ID:                hCV15853499
SNP Position Transcript:      3072
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 830,(I,ATA) (M,ATG)



Context              (SEQ ID NO:2604):
TGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACC
K
TCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAAT
Celera SNP ID:                hCV25969190
SNP Position Transcript:      2340
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|G,1)  african american(T,32|G,0)  total(T,69|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 586,(P,CCT) (P,CCG)



Context              (SEQ ID NO:2605):
AGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCT
Y
CCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTC
Celera SNP ID:                hCV15853485
SNP Position Transcript:      771
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,37)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 63,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,72)  african american(T,|C,)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 63,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,76)  african american(T,|C,)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 63,(L,CTC) (L,CTT)



Context              (SEQ ID NO:2606):
TTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCAC
S
GATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATT
Celera SNP ID:                hCV27531038
SNP Position Transcript:      2669
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 696,(R,CGG) (P,CCG)



Context              (SEQ ID NO:2607):
TTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGC
Y
GCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGA
Celera SNP ID:                hCV27509811
SNP Position Transcript:      790
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 70,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2608):
AATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCC
R
GTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATC
Celera SNP ID:                hCV8779778
SNP Position Transcript:      2156
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 525,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2609):
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
R
ATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTC
Celera SNP ID:                hCV8057200
SNP Position Transcript:      1023
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,32|A,4)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 147,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,67|A,7)  african american(G,|A,)  total(G,67|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 147,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2462|A,538) ; no_pop(G,16|A,2) ; no_pop(G,-|A,-) ; no_pop(G,1
866|A,198)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 147,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:2610):
AAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAAC
R
ATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTG
Celera SNP ID:                hDV68539586
SNP Position Transcript:      3407
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 942,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2611):
CATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACC
Y
TCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGT
Celera SNP ID:                hDV68539595
SNP Position Transcript:      1505
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 308,(L,CTT) (P,CCT)



Context              (SEQ ID NO:2612):
AGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCAC
R
TCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCG
Celera SNP ID:                hCV25964025
SNP Position Transcript:      2508
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 642,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,61|A,7)  african american(G,|A,)  total(G,61|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 642,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 642,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2613):
GAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGG
Y
TGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGC
Celera SNP ID:                hCV25993956
SNP Position Transcript:      2303
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 574,(A,GCT) (V,GTT)



Context              (SEQ ID NO:2614):
TCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGA
Y
CTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCC
Celera SNP ID:                hCV31954473
SNP Position Transcript:      4002


Context              (SEQ ID NO:2615):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hCV31954526
SNP Position Transcript:      2468


Context              (SEQ ID NO:2616):
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
Y
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
Celera SNP ID:                hCV32387852
SNP Position Transcript:      3323
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:396, 914,(L,CTC) (P,CCC)



Context              (SEQ ID NO:2617):
TGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGG
Y
TGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGC
Celera SNP ID:                hCV32387855
SNP Position Transcript:      1657
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:396, 359,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2618):
GAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCT
R
TTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTT
Celera SNP ID:                hCV31954458
SNP Position Transcript:      4901
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2619):
AGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTC
W
TGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGC
Celera SNP ID:                hCV11720313
SNP Position Transcript:      4944
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2620):
CAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTT
S
CCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGT
Celera SNP ID:                hCV31954457
SNP Position Transcript:      5768
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2621):
AAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTG
Y
CAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTT
Celera SNP ID:                hCV31954456
SNP Position Transcript:      5769
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:396, None



Context              (SEQ ID NO:2622):
AAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCT
M
ATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTG
Celera SNP ID:                hCV27979356
SNP Position Transcript:      5860
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:396, None



Gene Number:                  57
Celera Gene:                  hCG28898 - 116000144861368
Celera Transcript:            hCT2276860 - 116000144861531
Public Transcript Accession:  NM_003640
Celera Protein:               hCP1872373 - 197000069405637
Public Protein Accession:     NP_003631
Gene Symbol:                  IKBKAP
Protein Name:                  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
 complex-associated protein

Celera Genomic Axis:          GA_x5YUV32VU0F(11832795..11911673)
Chromosome:                   9
OMIM NUMBER:                  603722
OMIM Information:             Dysautonomia, familial, 223900 (3)


Transcript Sequence  (SEQ ID NO:136):
ATGGCGACCTCCGGCGCCGCCACCCCCGCCCTCCGGGACCCCAGCGCTTCCTCCGCGCAGCCCGGACTGGGCGTGCTCTTCCGGCGCACAGCGCGTGTCG
TGCGCACGCGCGCTGCTCTCAGGTCCGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGA
GCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGG
CCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGG
ATATTCAAGGTCCAGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGT
CTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAG
GAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTG
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
GATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTT
CAGATGCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCC
CAGAAACAGGGGCTCGGAAGGTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAA
ACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTT
CCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAGAAAGCT
CCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGT
GTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGC
GTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGT
GCACCTACCAACTGCTGTTCCCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTGCTGTTCTAGATGCCAGTAACCA
GATTTCTGTTTATAAATGTGGTGATTGTCCAAGTGCTGACCCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATTTAAAGTTTGCCTTAGAACTCCT
CATTTGGAAAAGAGATACAAAATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCT
TCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGT
CAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAG
TACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCA
TGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATA
TGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAAT
CATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGG
GAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAA
GCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTGGAAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATT
AACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGA
ATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGAC
AACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATAT
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
CCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCAT
TGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCA
AGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTG
CCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGG
CCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAGTGTGCCCAGGATTATGAAGAAGCTGTG
CTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTATAGAAACCAACGTAAAGCCTTCCATTT
TAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCA
AGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGC
AAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCGCTGG
AGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTTTGA
GTTTGATGAACAAGGAAGGGAATTACAGAAGGCCTTTGAAGATACGCTGCAGTTGATGGAAAGGTCACTTCCAGAAATTTGGACTCTTACTTACCAGCAG
AATTCAGCTACCCCGGTTCTAGGTCCCAATTCTACTGCAAATAGTATCATGGCATCTTATCAGCAACAGAAGACTTCGGTTCCTGTTCTTGATGCTGAGC
TTTTTATACCACCAAAGATCAACAGAAGAACCCAGTGGAAGCTGAGCCTGCTAGACTGAGTGACTGCAGTTAGGAGGGATCCGACAGAGAAGACCATTTC
CACTCATTCCTGTTGTCCTACCACCCCTTGCTCTTTGAGGGCTGGCTATTGAGAACTGGAAAGAGTAAAATGATAACTTACCTTAGCATTGCCAAGAACT
TCAGCAGACAACAAGCAATTCTATTTATTTTATGTTGTGTATACATCTTGATCATTAGCAAGACATTAAGCTTTAACCATTATGGCACCATTTTGTGAGA
ATGATTGTTCTTTCACTTGGGCTGTTTGAGAGCATAATTATGGTAATCATGAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAA
CAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCAC
CTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGCTTTCAG
TTATAACTGGGCTGAGCCTCCTATAATTACAATGTCTATAGGGACTGTTTTACTGCCTGTGTATTTTCTGCTAGAGAGTTAGCAATGTTAGAGCTAGAAC
AGATTAGAATTTCTAAACAGTATCATGCACAGTTGGTGTGAGTGATCAGTGTGCATTGTATGGCATGCATGGTTGTGAATTATTCTCTGTTCTCCAAATA
CTGTTTCTTTAACTCAGATATTTTTGTTAGTGTCTAGGCCACTTCATTTATTTTTCGTCATGGTACTTTACTGACTTCTCTTTATTCAATTCTCCACGCC
CTCACCAAAAAAAACTGTCTCAAAATGAGAATATTTTATTTTCATGGTGAGTCTAGAAAACGCCCACTTCATTCTGATTAAAAATTCTTCCATGTTTTAA
ATATCAGAACCAGACCTTTCTTACTGTGTATCTTAGCCCATTTGTGTCTCTATAACAACAACCAGCTTTCAAAGGAACTAATAGAGTGAAAACTCACTCA
TTACCACGAGGATGGCACAAGCGATTCACGTAGGATCTGCCCCTGTGACCAAAACACCTCCCATTGGGCCCCACTTCCAACACTGGTGATCACATTTCAA
CATGAGGTTTAGGGAAACAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTG
TAATTTAAGAAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTT
TCACAATCTCATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTG
CCCAATATTGAAAGGCTGCAAGTACTTTGTAATCACTCTTTGGCATGGGTAAATAAGCATGGTAACTTATATTGAAATATAGTGCTCTTGCTTTGGATAA
CTGTAAAGGGACCCATGCTGATAGACTGGAAATAGAAGTAAATGTGTTTATTGATAA


Protein Sequence     (SEQ ID NO:397):
MATSGAATPALRDPSASSAQPGLGVLFRRTARVVRTRAALRSAALQRFPLEGASILGGLVPSEREREPRTETRAQFGADSGCGLWELTLGSRLRVAGEAR
PDAPLFGGPQLYLSRGNHFIMRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQ
ESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF
QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTL
PFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRS
VGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP
HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFK
YLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSN
HVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHI
NLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSILTSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKY
LLHLVDVNELYDHSLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSP
SSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAV
LLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSG
KYSHSNSRISARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFEDTLQLMERSLPEIWTLTYQQ
NSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSLLD*



SNP Information


Context              (SEQ ID NO:2623):
TACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAA
R
AAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAA
Celera SNP ID:                hCV11720303
SNP Position Transcript:      1294
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 432,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2624):
CGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCT
S
TTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAG
Celera SNP ID:                hCV15879225
SNP Position Transcript:      315
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1313|C,175) ; no_pop(G,-|C,-) ; no_pop(G,112|C,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 105,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2625):
CATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTCAGA
W
GCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAA
Celera SNP ID:                hCV29800267
SNP Position Transcript:      905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 302,(M,ATG) (K,AAG)



Context              (SEQ ID NO:2626):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hDV68539590
SNP Position Transcript:      2246
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 749,(R,CGC) (H,CAC)



Context              (SEQ ID NO:2627):
AAGAGTGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGA
K
ATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAAC
Celera SNP ID:                hCV11720307
SNP Position Transcript:      3669
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1223,(D,GAT) (E,GAG)



Context              (SEQ ID NO:2628):
TAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAG
W
GTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTAT
Celera SNP ID:                hCV25970515
SNP Position Transcript:      3574
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,208|A,3
2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1192,(C,TGT) (S,AGT)



Context              (SEQ ID NO:2629):
AATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACC
S
CAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCT
Celera SNP ID:                hCV25966183
SNP Position Transcript:      2905
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 969,(P,CCA) (A,GCA)



Context              (SEQ ID NO:2630):
GTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAA
M
TAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCC
Celera SNP ID:                hCV15853498
SNP Position Transcript:      2806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|A,40)  african american(C,14|A,24)  total(C,14|A,64)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 936,(I,ATA) (L,CTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|A,55)  african american(C,|A,)  total(C,15|A,55)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 936,(I,ATA) (L,CTA)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 936,(I,ATA) (L,CTA)



Context              (SEQ ID NO:2631):
CTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGT
R
GGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCA
Celera SNP ID:                hCV26000584
SNP Position Transcript:      1503
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,36|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 501,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2632):
TTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAAC
Y
CATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGC
Celera SNP ID:                hCV15853497
SNP Position Transcript:      2325
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 775,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,58)  african american(T,|C,)  total(T,8|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 775,(T,ACC) (T,ACT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 775,(T,ACC) (T,ACT)



Context              (SEQ ID NO:2633):
TCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGC
R
GTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGG
Celera SNP ID:                hCV25956023
SNP Position Transcript:      646
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 216,(S,AGT) (G,GGT)



Context              (SEQ ID NO:2634):
TTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCT
S
ACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGG
Celera SNP ID:                hCV375448
SNP Position Transcript:      3429
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,17)  african american(G,30|C,6)  total(G,53|C,23)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 1143,(L,CTG) (L,CTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,38)  african american(G,|C,)  total(G,38|C,38)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 1143,(L,CTG) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,2) ; no_pop(G,-|C,-) ; no_pop(G,504|C,
160)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 1143,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2635):
TGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACAC
R
AGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAAT
Celera SNP ID:                hCV25996379
SNP Position Transcript:      1130
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 377,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2636):
GAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACG
R
CTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCC
Celera SNP ID:                hCV26000610
SNP Position Transcript:      1489
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 497,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2637):
CCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCA
W
ATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTAC
Celera SNP ID:                hCV15853503
SNP Position Transcript:      3215
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1072,(K,AAA) (I,ATA)



Context              (SEQ ID NO:2638):
TGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTG
R
AAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAAGAAGAAGATGTCACGAAGACCATGTACCCT
Celera SNP ID:                hCV15879259
SNP Position Transcript:      2654
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,12)  total(G,65|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 885,(G,GGA) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,59|A,17)  african american(G,|A,)  total(G,59|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 885,(G,GGA) (E,GAA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,860) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 885,(G,GGA) (E,GAA)



Context              (SEQ ID NO:2639):
CTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTT
Y
ACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAG
Celera SNP ID:                hCV25999962
SNP Position Transcript:      1194
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,26)  african american(T,1|C,11)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 398,(F,TTT) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,52)  african american(T,|C,)  total(T,2|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 398,(F,TTT) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 398,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2640):
TCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGC
K
GACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATC
Celera SNP ID:                hCV15879306
SNP Position Transcript:      260
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 87,(L,CTG) (R,CGG)



Context              (SEQ ID NO:2641):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hDV68539582
SNP Position Transcript:      3573
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1191,(E,GAG) (D,GAC)



Context              (SEQ ID NO:2642):
ACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGC
R
GTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGT
Celera SNP ID:                hCV15853504
SNP Position Transcript:      3397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1133,(G,GGT) (S,AGT)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1133,(G,GGT) (S,AGT)



Context              (SEQ ID NO:2643):
GACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTAC
Y
CCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCG
Celera SNP ID:                hCV375442
SNP Position Transcript:      3833
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,462|T,90) ; no_pop(C,760|T,226) ; no_pop(C,-|T,-) ; no_pop(C,
210|T,30)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1278,(P,CCC) (L,CTC)



Context              (SEQ ID NO:2644):
AAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAA
M
CCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTG
Celera SNP ID:                hCV31954518
SNP Position Transcript:      2903
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 968,(T,ACC) (N,AAC)



Context              (SEQ ID NO:2645):
TGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCG
M
TGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTT
Celera SNP ID:                hCV8779777
SNP Position Transcript:      3997
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1333,(L,CTG) (M,ATG)



Context              (SEQ ID NO:2646):
TCACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTT
R
CGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTG
Celera SNP ID:                hDV68539585
SNP Position Transcript:      3395
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1132,(C,TGC) (Y,TAC)



Context              (SEQ ID NO:2647):
ACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCAT
R
AATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAA
Celera SNP ID:                hCV15853499
SNP Position Transcript:      2850
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 950,(I,ATA) (M,ATG)



Context              (SEQ ID NO:2648):
TGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACC
K
TCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAAT
Celera SNP ID:                hCV25969190
SNP Position Transcript:      2118
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|G,1)  african american(T,32|G,0)  total(T,69|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 706,(P,CCT) (P,CCG)



Context              (SEQ ID NO:2649):
AGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCT
Y
CCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTC
Celera SNP ID:                hCV15853485
SNP Position Transcript:      549
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,37)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,72)  african american(T,|C,)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,76)  african american(T,|C,)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 183,(L,CTC) (L,CTT)



Context              (SEQ ID NO:2650):
TTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCAC
S
GATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATT
Celera SNP ID:                hCV27531038
SNP Position Transcript:      2447
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 816,(R,CGG) (P,CCG)



Context              (SEQ ID NO:2651):
TTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGC
Y
GCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGA
Celera SNP ID:                hCV27509811
SNP Position Transcript:      568
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 190,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2652):
AATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCC
R
GTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATC
Celera SNP ID:                hCV8779778
SNP Position Transcript:      1934
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 645,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2653):
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
R
ATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTC
Celera SNP ID:                hCV8057200
SNP Position Transcript:      801
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,32|A,4)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 267,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,67|A,7)  african american(G,|A,)  total(G,67|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 267,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2462|A,538) ; no_pop(G,16|A,2) ; no_pop(G,-|A,-) ; no_pop(G,1
866|A,198)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 267,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:2654):
AAGTCACAGAAGGATCCCAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAAC
R
ATATGAAAAAGCCATTGGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTG
Celera SNP ID:                hDV68539586
SNP Position Transcript:      3185
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1062,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2655):
CATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACC
Y
TCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGT
Celera SNP ID:                hDV68539595
SNP Position Transcript:      1283
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 428,(L,CTT) (P,CCT)



Context              (SEQ ID NO:2656):
AGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCAC
R
TCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCG
Celera SNP ID:                hCV25964025
SNP Position Transcript:      2286
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 762,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,61|A,7)  african american(G,|A,)  total(G,61|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 762,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 762,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2657):
GAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGG
Y
TGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGC
Celera SNP ID:                hCV25993956
SNP Position Transcript:      2081
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 694,(A,GCT) (V,GTT)



Context              (SEQ ID NO:2658):
TCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGA
Y
CTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCC
Celera SNP ID:                hCV31954473
SNP Position Transcript:      3852


Context              (SEQ ID NO:2659):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hCV31954501
SNP Position Transcript:      3573


Context              (SEQ ID NO:2660):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hCV31954526
SNP Position Transcript:      2246


Context              (SEQ ID NO:2661):
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
Y
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
Celera SNP ID:                hCV32387852
SNP Position Transcript:      3101
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:397, 1034,(L,CTC) (P,CCC)



Context              (SEQ ID NO:2662):
TGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGG
Y
TGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGC
Celera SNP ID:                hCV32387855
SNP Position Transcript:      1435
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:397, 479,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2663):
AGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAG
S
TGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCTT
Celera SNP ID:                hCV25962666
SNP Position Transcript:      331
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:397, None



Context              (SEQ ID NO:2664):
GAGATTAATGTTTCATGATTTCTACCTCCAAAGTGTGAAGACAAGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCT
R
TTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTCTTGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTT
Celera SNP ID:                hCV31954458
SNP Position Transcript:      4751
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:397, None



Context              (SEQ ID NO:2665):
AGTAAAACAATGTTTCTAAATTGTCTTATTTTGTTGGCGGAGAAGATTACAATGGCTATTAGTGCTACATTTGGTCAAATGTAATCACTTAAATAGCTTC
W
TGTCACCTTAAACTAAAGCAGAATAAAAAGTATCCTTTGAAATTATAAGCCCTCCTTTGCTGACAGCTATTATTTTGTAACATCTTACCAGGTCATGTGC
Celera SNP ID:                hCV11720313
SNP Position Transcript:      4794
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:397, None



Context              (SEQ ID NO:2666):
CAAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTT
S
CCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGT
Celera SNP ID:                hCV31954457
SNP Position Transcript:      5618
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:397, None



Context              (SEQ ID NO:2667):
AAATGCCTAAACTACAGCACTGTACATAAACTAACAGGAAATGCTGCTTTTGATCCTCAAAGAAGTGATATAGCCAAAATTGTAATTTAAGAAGCCTTTG
Y
CAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCTCATAGGAGTT
Celera SNP ID:                hCV31954456
SNP Position Transcript:      5619
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:397, None



Context              (SEQ ID NO:2668):
AAGCCTTTGCCAGTATAGCAAGATGTTAACTATAGAATCAATCTAGGAGTATTCACTGTAAAATTCAACTTTTCTGTATGTTTGAACATTTTCACAATCT
M
ATAGGAGTTTTTAAAAAGAAGAGAAAGAAGATATACTTTGCTTTGGAGAAATCTACTTTTTGACTTACATGGGTTTGCTGTAATTAAGTGCCCAATATTG
Celera SNP ID:                hCV27979356
SNP Position Transcript:      5710
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:397, None



Gene Number:                  57
Celera Gene:                  hCG28898 - 116000144861368
Celera Transcript:            hCT2276864 - 116000144861490
Public Transcript Accession:
Celera Protein:               hCP1872372 - 197000069405636
Public Protein Accession:
Gene Symbol:                  IKBKAP
Protein Name:                  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase
 complex-associated protein

Celera Genomic Axis:          GA_x5YUV32VU0F(11832795..11911673)
Chromosome:                   9
OMIM NUMBER:                  603722
OMIM Information:             Dysautonomia, familial, 223900 (3)


Transcript Sequence  (SEQ ID NO:137):
ATGGCGACCTCCGGCGCCGCCACCCCCGCCCTCCGGGACCCCAGCGCTTCCTCCGCGCAGCCCGGACTGGGCGTGCTCTTCCGGCGCACAGCGCGTGTCG
TGCGCACGCGCGCTGCTCTCAGGTCCGCAGCGCTTCAGCGTTTTCCCCTGGAGGGCGCCTCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGA
GCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGG
CCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGG
ATATTCAAGGTCCAGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGT
CTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAG
GAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTG
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
GATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTT
CAGATGCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCC
CAGAAACAGGGGCTCGGAAGGTCAGAGTGTGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAA
ACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTT
CCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAGAAAGCT
CCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGT
GTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGC
GTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGT
GCACCTACCAACTGCTGTTCCCACACCCTGTGAATCAAGTCACATTCTTAGCACACCCTCAAAAGAGTAATGACCTTGCTGTTCTAGATGCCAGTAACCA
GATTTCTGTTTATAAATGTGGTGATTGTCCAAGTGCTGACCCTACAGTGAAACTGGGAGCTGTGGGTGGAAGTGGATTTAAAGTTTGCCTTAGAACTCCT
CATTTGGAAAAGAGATACAAAATCCAGTTTGAGAATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCT
TCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCCGGTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGT
CAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAG
TACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCA
TGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATA
TGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAAT
CATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCACGGATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGG
GAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATTCGGAAGTGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAA
GCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTGGAAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATT
AACTTGTTTTTTACAGAATTGAAGTAAAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAA
TAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACA
ACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATT
TGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATCC
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
GGCCACCTCAGCAAATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAA
GCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGC
CCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGC
CTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAGTGTGCCCAGGATTATGAAGAAGCTGTGC
TCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTATAGAAACCAACGTAAAGCCTTCCATTTT
AGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAA
GCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCA
AATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCGCTGGA
GGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTTTGAG
TTTGATGAACAAGGAAGGGAATTACAGAAGGCCTTTGAAGATACGCTGCAGTTGATGGAAAGGTCACTTCCAGAAATTTGGACTCTTACTTACCAGCAGA
ATTCAGCTACCCCGACATGGGGAGAGGGAGTCTTGCTGTGTTGCCCAAGCTGGTCT


Protein Sequence     (SEQ ID NO:398):
MATSGAATPALRDPSASSAQPGLGVLFRRTARVVRTRAALRSAALQRFPLEGASILGGLVPSEREREPRTETRAQFGADSGCGLWELTLGSRLRVAGEAR
PDAPLFGGPQLYLSRGNHFIMRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGRIVGVQDLLDQ
ESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF
QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTL
PFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLHVLCQGWHYLAYDWHWTTDRS
VGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLFPHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP
HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFK
YLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSN
HVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHI
NLFFTELK*



SNP Information


Context              (SEQ ID NO:2669):
TACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAA
R
AAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAA
Celera SNP ID:                hCV11720303
SNP Position Transcript:      1294
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 432,(E,GAA) (K,AAA)



Context              (SEQ ID NO:2670):
CGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCT
S
TTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAG
Celera SNP ID:                hCV15879225
SNP Position Transcript:      315
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1313|C,175) ; no_pop(G,-|C,-) ; no_pop(G,112|C,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 105,(L,CTG) (L,CTC)



Context              (SEQ ID NO:2671):
CATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTCAGA
W
GCAAATGCATGAGTCTGCTTTGCCCTGGGATGACCATAGACCACAAGTTACCTGGCGGGGGGATGGACAGTTTTTTGCTGTGAGTGTTGTTTGCCCAGAA
Celera SNP ID:                hCV29800267
SNP Position Transcript:      905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 302,(M,ATG) (K,AAG)



Context              (SEQ ID NO:2672):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hDV68539590
SNP Position Transcript:      2246
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 749,(R,CGC) (H,CAC)



Context              (SEQ ID NO:2673):
CTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGT
R
GGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCCGCCTCCCATGTGCA
Celera SNP ID:                hCV26000584
SNP Position Transcript:      1503
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,36|A,2)  total(G,74|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 501,(V,GTG) (V,GTA)



Context              (SEQ ID NO:2674):
TTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAAC
Y
CATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGC
Celera SNP ID:                hCV15853497
SNP Position Transcript:      2325
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 775,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,58)  african american(T,|C,)  total(T,8|C,58)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 775,(T,ACC) (T,ACT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 775,(T,ACC) (T,ACT)



Context              (SEQ ID NO:2675):
TCTCCCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGC
R
GTCTCAGCACACAACAGCTGGAGTGTGTTGGGAGTGTAGCCAGTGGTATCTCTGTTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGG
Celera SNP ID:                hCV25956023
SNP Position Transcript:      646
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 216,(S,AGT) (G,GGT)



Context              (SEQ ID NO:2676):
TGGAACCGAGAGTTTGCTTTGCAGTCAACCAGTGAGCCTGTGGCAGGACTGGGACCAGCCCTGGCTTGGAAACCCTCAGGCAGTTTGATTGCATCTACAC
R
AGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAAT
Celera SNP ID:                hCV25996379
SNP Position Transcript:      1130
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 377,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:2677):
GAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGGCTGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACG
R
CTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGCTGTCATTGATGGAAACAGGGTGTTGGTGACAGTCTTCCGGCAGACTGTGGTTCC
Celera SNP ID:                hCV26000610
SNP Position Transcript:      1489
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,38)  african american(G,1|A,37)  total(G,1|A,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 497,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2678):
TGGTTGGACAAACTTATGTTTAAAGAGGCATTTGAATGCATGAGAAAGCTGAGAATCAATCTCAATCTGATTTATGATCATAACCCTAAGGTGTTTCTTG
R
AAATGTGGAAACCTTCATTAAACAGATAGATTCTGTGAATCATATTAACTTGTTTTTTACAGAATTGAAGTAAAAGATGTCACGAAGACCATGTACCCTG
Celera SNP ID:                hCV15879259
SNP Position Transcript:      2654
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,12)  total(G,65|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 885,(G,GGA) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,59|A,17)  african american(G,|A,)  total(G,59|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 885,(G,GGA) (E,GAA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,860) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 885,(G,GGA) (E,GAA)



Context              (SEQ ID NO:2679):
CTTGGAAACCCTCAGGCAGTTTGATTGCATCTACACAAGATAAACCCAACCAGCAGGATATTGTGTTTTTTGAGAAAAATGGACTCCTTCATGGACACTT
Y
ACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACCTTCAGAGAGAAG
Celera SNP ID:                hCV25999962
SNP Position Transcript:      1194
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,26)  african american(T,1|C,11)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 398,(F,TTT) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,52)  african american(T,|C,)  total(T,2|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 398,(F,TTT) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 398,(F,TTT) (F,TTC)



Context              (SEQ ID NO:2680):
TCCATCCTTGGAGGCCTAGTGCCGTCGGAGAGAGAGCGGGAGCCGCGGACAGAGACGCGTGCGCAATTCGGAGCCGACTCTGGGTGCGGACTGTGGGAGC
K
GACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAGTTGTACTTGTCTCGTGGGAATCACTTCATC
Celera SNP ID:                hCV15879306
SNP Position Transcript:      260
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 87,(L,CTG) (R,CGG)



Context              (SEQ ID NO:2681):
TGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGGCTGATGGCCAGATATTTAAGTACCTTTGGGAGTCACC
K
TCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAAT
Celera SNP ID:                hCV25969190
SNP Position Transcript:      2118
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,37|G,1)  african american(T,32|G,0)  total(T,69|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 706,(P,CCT) (P,CCG)



Context              (SEQ ID NO:2682):
AGGGGACGGTGCTCATTGGTTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCT
Y
CCAGAGGATGGAAGTGGCCGCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTC
Celera SNP ID:                hCV15853485
SNP Position Transcript:      549
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,1|C,37)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,72)  african american(T,|C,)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 183,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|C,76)  african american(T,|C,)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 183,(L,CTC) (L,CTT)



Context              (SEQ ID NO:2683):
TTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCGGCCTGAGCAGCAATCATGTGTCCCATGGGGAAGTTCTGCGGAAAGTGGAGAGGGGTTCAC
S
GATTGTCACTGTTGTGCCCCAGGACACAAAGCTTGTATTACAGATGCCAAGGGGAAACTTAGAAGTTGTTCATCATCGAGCCCTGGTTTTAGCTCAGATT
Celera SNP ID:                hCV27531038
SNP Position Transcript:      2447
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 816,(R,CGG) (P,CCG)



Context              (SEQ ID NO:2684):
TTCAGAACATGGCCTGATAGAAGTAGACCCTGTCTCAAGAGAAGTGAAAAATGAAGTTTCTTTGGTGGCAGAAGGCTTTCTCCCAGAGGATGGAAGTGGC
Y
GCATTGTTGGTGTTCAGGACTTGCTGGATCAGGAGTCTGTGTGTGTGGCCACAGCCTCTGGAGACGTCATACTCTGCAGTCTCAGCACACAACAGCTGGA
Celera SNP ID:                hCV27509811
SNP Position Transcript:      568
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 190,(R,CGC) (C,TGC)



Context              (SEQ ID NO:2685):
AATAATGAAGATCAAGATGTAAACCCGCTGAAACTAGGCCTTCTCACTTGGATTGAAGAAGACGTCTTCCTGGCTGTAAGCCACAGTGAGTTCAGCCCCC
R
GTCTGTCATTCACCATTTGACTGCAGCTTCTTCTGAGATGGATGAAGAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATC
Celera SNP ID:                hCV8779778
SNP Position Transcript:      1934
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 645,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:2686):
TTATGAGTTGGAGTCCTGACCAAGAGCTGGTGCTTCTTGCCACAGGTCAACAGACCCTGATTATGATGACAAAAGATTTTGAGCCAATCCTGGAGCAGCA
R
ATCCATCAGGATGATTTTGGTGAAAGCAAGTTTATCACTGTTGGATGGGGTAGGAAGGAGACACAGTTCCATGGATCAGAAGGCAGACAAGCAGCTTTTC
Celera SNP ID:                hCV8057200
SNP Position Transcript:      801
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,7)  african american(G,32|A,4)  total(G,65|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 267,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,67|A,7)  african american(G,|A,)  total(G,67|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 267,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2462|A,538) ; no_pop(G,16|A,2) ; no_pop(G,-|A,-) ; no_pop(G,1
866|A,198)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 267,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:2687):
CATGGACACTTTACACTTCCCTTCCTTAAAGATGAGGTTAAGGTAAATGACTTGCTCTGGAATGCAGATTCCTCTGTGCTTGCAGTCTGGCTGGAAGACC
Y
TCAGAGAGAAGAAAGCTCCATTCCGAAAACCTGTGTTCAGCTCTGGACTGTTGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGT
Celera SNP ID:                hDV68539595
SNP Position Transcript:      1283
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 428,(L,CTT) (P,CCT)



Context              (SEQ ID NO:2688):
AGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTCGCTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCAC
R
TCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGTTTTTGCCTGAGGGATGCTTCATTTAAAACATTACAGGCCG
Celera SNP ID:                hCV25964025
SNP Position Transcript:      2286
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,34|A,2)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 762,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,61|A,7)  african american(G,|A,)  total(G,61|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 762,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 762,(T,ACG) (T,ACA)



Context              (SEQ ID NO:2689):
GAGCATGGACAGCTCAATGTCAGTTCATCTGCAGCGGTGGATGGGGTCATAATCAGTCTATGTTGCAATTCCAAGACCAAGTCAGTAGTATTACAGCTGG
Y
TGATGGCCAGATATTTAAGTACCTTTGGGAGTCACCTTCTCTGGCTATTAAACCATGGAAGAACTCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGC
Celera SNP ID:                hCV25993956
SNP Position Transcript:      2081
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:398, 694,(A,GCT) (V,GTT)



Context              (SEQ ID NO:2690):
TCTGGTGGATTTCCTGTTCGGTTTCCTTATCCATGCACCCAGACCGAATTGGCCATGATTGGAGAAGAGGAATGTGTCCTTGGTCTGACTGACAGGTGTC
R
CTTTTTCATCAATGACATTGAGGTTGCGTCAAATATCACGTCATTTGCAGTATATGATGAGTTTTTATTGTTGACAACCCATTCCCATACCTGCCAGTGT
Celera SNP ID:                hCV31954526
SNP Position Transcript:      2246


Context              (SEQ ID NO:2691):
TGGAAACTATCACTGGTATCTCAAGCAAAGTTTATCCTTCAGCACCTGTGGGAAGAGCAAGATTGTGTCTCTGATGTGGGACCCTGTGACCCCATACCGG
Y
TGCATGTTCTCTGTCAGGGCTGGCATTACCTCGCCTATGATTGGCACTGGACGACTGACCGGAGCGTGGGAGATAATTCAAGTGACTTGTCCAATGTGGC
Celera SNP ID:                hCV32387855
SNP Position Transcript:      1435
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:398, 479,(L,CTG) (L,TTG)



Context              (SEQ ID NO:2692):
AGCCGACTCTGGGTGCGGACTGTGGGAGCTGACTCTGGGTAGCCGGCTGCGCGTGGCTGGGGAGGCGAGGCCGGACGCACCTCTGTTTGGGGGTCCTCAG
S
TGTACTTGTCTCGTGGGAATCACTTCATCATGCGAAATCTGAAATTATTTCGGACCCTGGAGTTCAGGGATATTCAAGGTCCAGGGAATCCTCAGTGCTT
Celera SNP ID:                hCV25962666
SNP Position Transcript:      331
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2693):
TGTTTTTTACAGAATTGAAGTAAAAGATGTCACGAAGACCATGTACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAA
M
TAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCC
Celera SNP ID:                hCV15853498
SNP Position Transcript:      2805
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|A,40)  african american(C,14|A,24)  total(C,14|A,64)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|A,55)  african american(C,|A,)  total(C,15|A,55)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2694):
ACCCTGCACCAGTTACCAGCAGTGTCTACCTGTCCAGGGATCCTGACGGGAATAAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCAT
R
AATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACCCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAA
Celera SNP ID:                hCV15853499
SNP Position Transcript:      2849
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2695):
AAAATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAA
M
CCCAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTG
Celera SNP ID:                hCV31954518
SNP Position Transcript:      2902
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2696):
AATAGACCTTGTCTGCGATGCTATGAGAGCAGTCATGGAGAGCATAAATCCTCATAAATACTGCCTATCCATACTTACATCTCATGTAAAGAAGACAACC
S
CAGAACTGGAAATTGTACTGCAAAAAGTACACGAGCTTCAAGGAAATGCTCCCTCTGATCCTGATGCTGTGAGTGCTGAAGAGGCCTTGAAATATTTGCT
Celera SNP ID:                hCV25966183
SNP Position Transcript:      2904
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2697):
TTGCTGCATCTGGTAGATGTTAATGAATTATATGATCATTCTCTTGGCACCTATGACTTTGATTTGGTCCTCATGGTAGCTGAGAAGTCACAGAAGGATC
Y
CAAAGAATATCTTCCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATT
Celera SNP ID:                hCV32387852
SNP Position Transcript:      3100
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2698):
CCATTTCTTAATACACTTAAGAAAATGGAAACTAATTATCAGCGGTTTACTATAGACAAATACTTGAAACGATATGAAAAAGCCATTGGCCACCTCAGCA
W
ATGTGGACCTGAGTACTTCCCAGAATGCTTAAACTTGATAAAAGATAAAAACTTGTATAACGAAGCTCTGAAGTTATATTCACCAAGCTCACAACAGTAC
Celera SNP ID:                hCV15853503
SNP Position Transcript:      3214
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2699):
ACCAAGCTCACAACAGTACCAGGATATCAGCATTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGC
R
GTGCCCACGAGAAAGCTCTCTCAGCCTTTCTGACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGT
Celera SNP ID:                hCV15853504
SNP Position Transcript:      3396
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2700):
TTGCTTATGGGGAGCACCTGATGCAGGAGCACATGTATGAGCCAGCGGGGCTCATGTTTGCCCGTTGCGGTGCCCACGAGAAAGCTCTCTCAGCCTTTCT
S
ACATGTGGCAACTGGAAGCAAGCCCTCTGTGTGGCAGCCCAGCTTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGG
Celera SNP ID:                hCV375448
SNP Position Transcript:      3428
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|C,17)  african american(G,30|C,6)  total(G,53|C,23)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,38)  african american(G,|C,)  total(G,38|C,38)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,14|C,2) ; no_pop(G,-|C,-) ; no_pop(G,504|C,
160)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2701):
TTAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGA
S
TGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTA
Celera SNP ID:                hCV31954501
SNP Position Transcript:      3572


Context              (SEQ ID NO:2702):
TAACTTTACCAAAGACCAGCTGGTGGGCCTCGGCAGAACTCTGGCAGGAAAGCTGGTTGAGCAGAGGAAGCACATTGATGCGGCCATGGTTTTGGAAGAG
W
GTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGATATTAT
Celera SNP ID:                hCV25970515
SNP Position Transcript:      3573
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,-|A,-) ; no_pop(T,208|A,3
2)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2703):
AAGAGTGTGCCCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTATACAAATATAACAGACTGGA
K
ATTATAGAAACCAACGTAAAGCCTTCCATTTTAGAAGCCCAGAAAAATTATATGGCATTTCTGGACTCTCAGACAGCCACATTCAGTCGCCACAAGAAAC
Celera SNP ID:                hCV11720307
SNP Position Transcript:      3668
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2704):
GACTCTCAGACAGCCACATTCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTAC
Y
CCACGGGCAAGAGTCAGACCTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCG
Celera SNP ID:                hCV375442
SNP Position Transcript:      3832
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,462|T,90) ; no_pop(C,760|T,226) ; no_pop(C,-|T,-) ; no_pop(C,
210|T,30)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Context              (SEQ ID NO:2705):
TCAGTCGCCACAAGAAACGTTTATTGGTAGTTCGAGAGCTCAAGGAGCAAGCCCAGCAGGCAGGTCTGGATGATGAGGTACCCCACGGGCAAGAGTCAGA
Y
CTCTTCTCTGAAACTAGCAGTGTCGTGAGTGGCAGTGAGATGAGTGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCC
Celera SNP ID:                hCV31954473
SNP Position Transcript:      3851


Context              (SEQ ID NO:2706):
TGGCAAATACTCCCATAGTAACTCCAGGATATCAGCGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAGCCTCAAAGAAGGCAGTCCG
M
TGGAGGACCTGGCCCTCCTGGAGGCACTGAGTGAAGTGGTGCAGAACACTGAAAACCTGAAAGATGAAGTATACCATATTTTAAAGGTACTCTTTCTCTT
Celera SNP ID:                hCV8779777
SNP Position Transcript:      3996
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:398, None



Gene Number:                  58
Celera Gene:                  hCG28901 - 116000144845829
Celera Transcript:            hCT1965001 - 116000144845840
Public Transcript Accession:  NM_017832
Celera Protein:               hCP1779465 - 197000069405655
Public Protein Accession:     NP_060302
Gene Symbol:                  FLJ20457
Protein Name:                  hypothetical protein FLJ20457
Celera Genomic Axis:          GA_x5YUV32VU0F(11899365..11918144)
Chromosome:                   9
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:138):
TAGGCCTGGCACCGTAGAGGTAGAGGAGCTACATTGGCCGCGTCCCCTGTCCCTCTGCCCTCTTGCCCATCTGCCCAAACTTTTGTATTTGATCTCTGTT
TTGATGTCGAACCCCAAAGCACTGTAATTGGGGGGGGCGGGGGGGGGGGTGGAACCTGCGGACCTGAGAGCAGCGCGCGTGCGCACGACACGCGCTGTGC
GCCGGAAGAGCACGCCCAGTCCGGGCTGCGCGGAGGAAGCGCTGGGGTCCCGGAGGGCGGGGGTGGCGGCGCCGGAGGTCGCCATGGCTACCGAGCCCGA
AGCCGCGGAGCCGGTGGTGCCTTCGCTCGTGGATCGATACTTCACTCGCTGGTACAAACCGGAATATGTGTCATCACATTGGCAGAATCTCATCCAGTTC
TTCAAAGTGGAAAAACAATTAAAAGCATTTCCTATCAGATCAGTACCAACTGTAGCAGACTTCAGAACAAGGTCTCTGGGAAATTTAAGCGGGGGGCACA
GTTTCTAACAGAGCTTGCACCTCTCTGTAAGATTTACTGCTCAGATGGTGAAGAATATACTGTGTCTAGTTGTGTTAGAGGACGTTTGATGGAAGTGAAT
GAAAACATCCTCCATAAGCCATCTATTCTTCAAGAAAAGCCATCTACTGAAGGCTACATTGCAGTTGTGTTACCCAAATTTGAAGAAAGTAAAAGCATAA
CAGAAGGGTTACTGACACAAAAACAATATGAAGAAGTCATGGTGAAACGCATTAATGCCACAACAGCTACGTCATGAGGATTGACATGGAACAAAAAGCA
AAGTGGGATTCTTGTTACCTGGCCTAAACCATCAGGGTACTAAAGGAGAAGAACCAGTATATGTAAAGCATACCTAACAGCCAGCCATATGCAGGGGAGG
CCTAGTGCTTCACTTAGTTTTCCCTCTCTGTCTTCATAATGAGCCTTGGTTCCCATTTGTCTACAGCCTGCCAGATCTGGCCTGCCCATGTACTCACACT
GTTCTCTTGCATCTCTCTAACAACTGGCATGCAAGGCATGTTTTTCTGATTAAAAACAAACAAAGCTCTTTGAAGAAGATTTAGAAAATACAGAAGAGTT
TTAAGTAGCCAAGTAAAAATAATTTACCCATCATCCCATAATCCAGAAGTAAATACATTTGACCCTTGAGCAACATAGGTTTGAACTGCAAGGGTCCACT
TATGCATGGACTATTTTCAACTATAAACGAGTCAAAAATATATCATTAACCAAACACGAAACCCACTTATAGAGCAGGTTCATATACTCAGGTTCCAAAG
GGCCAACTGCAGGACTTGAGTTCTCACGTATGGATTTGGGTATATGTGGAAGTTCCTGGAACCAATCCCCTATGTAAACCAAGGGATAACTACTACATTT
TAACCTACTTCTGTTTGAACATATGGTATGGTTATTGCTTTTGCCTCGTTTTCCTAACAGTTTGAAGTTTAAAAAAACCTAACCCACCTTTCTTACCCAG
TCTTCTATAATGTGCCTACCAAAAAGCCTAGTCCTAGCCCATCTGCCTCAACTCCTCTCCCTTTTAGGTTGTAGGGAAGAGGCCGGAGTGTAGAGTATAT
TATATCTTCTGTCCCCCTTATGCCAACAAGATGGCCTTCCCCTCTGAAACAAAGTAAAACTGCAACACTGTGACTTCTTAAATGAGGGATATGTGAAAAG
GCTATGAAAAATACAAAGGCTTTCCTAGGAAATGTGTTATAATGCAGCGGGAAGCTAATTCTTGAAATATGCACATTATAGTTACTCAGTCTCACATACT
CTAGTTACTGGCAAAGAAGTTACTGAGAATATGTCATTCAAAGGCATAGGGGCCTTTGAATGGAACAAATGCTTTCACATCATTTAAAGTAAAAAAAAAC
CTCCAACAACTGTGAATTTATAGTTTAAGAGTGATTTACACTGAATTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATAC
ATGTCAATATCACTGTTTTTAAATAAAATATACTTTTATACAGAAGAAAT


Protein Sequence     (SEQ ID NO:399):
AWHRRGRGATLAASPVPLPSCPSAQTFVFDLCFDVEPQSTVIGGGGGGGGTCGPESSARAHDTRCAPEEHAQSGLRGGSAGVPEGGGGGAGGRHGYRARS
RGAGGAFARGSILHSLVQTGICVITLAESHPVLQSGKTIKSISYQISTNCSRLQNKVSGKFKRGAQFLTELAPLCKIYCSDGEEYTVSSCVRGRLMEVNE
NILHKPSILQEKPSTEGYIAVVLPKFEESKSITEGLLTQKQYEEVMVKRINATTATS*



SNP Information


Context              (SEQ ID NO:2707):
CTTCTATAATGTGCCTACCAAAAAGCCTAGTCCTAGCCCATCTGCCTCAACTCCTCTCCCTTTTAGGTTGTAGGGAAGAGGCCGGAGTGTAGAGTATATT
R
TATCTTCTGTCCCCCTTATGCCAACAAGATGGCCTTCCCCTCTGAAACAAAGTAAAACTGCAACACTGTGACTTCTTAAATGAGGGATATGTGAAAAGGC
Celera SNP ID:                hCV27094128
SNP Position Transcript:      1602
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:399, None



Context              (SEQ ID NO:2708):
GTGAATTTATAGTTTAAGAGTGATTTACACTGAATTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATACATGTCAATATC
M
CTGTTTTTAAATAAAATATACTTTTATACAGAAGAAAT
Celera SNP ID:                hCV11720300
SNP Position Transcript:      2012
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:399, None



Context              (SEQ ID NO:2709):
TTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATACATGTCAATATCACTGTTTTTAAATAAAATATACTTTTATACAGAA
R
AAAT
Celera SNP ID:                hCV27466455
SNP Position Transcript:      2046
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:399, None



Gene Number:                  58
Celera Gene:                  hCG28901 - 116000144845829
Celera Transcript:            hCT20057 - 116000144845830
Public Transcript Accession:  NM_017832
Celera Protein:               hCP44241 - 197000069405654
Public Protein Accession:     NP_060302
Gene Symbol:                  FLJ20457
Protein Name:                  hypothetical protein FLJ20457
Celera Genomic Axis:          GA_x5YUV32VU0F(11899365..11918144)
Chromosome:                   9
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:139):
CTTACGGCGGCCGGCCTTCTTTGTAGGCCTGGCACCGTAGAGGTAGAGGAGCTACATTGGCCGCGTCCCCTGTCCCTCTGCCCTCTTGCCCATCTGCCCA
AACTTTTGTATTTGATCTCTGTTTTGATGTCGAACCCCAAAGCACTGTAATTGGGGGGGGCGGGGGGGGGGGTGGAACCTGCGGACCTGAGAGCAGCGCG
CGTGCGCACGACACGCGCTGTGCGCCGGAAGAGCACGCCCAGTCCGGGCTGCGCGGAGGAAGCGCTGGGGTCCCGGAGGGCGGGGGTGGCGGCGCCGGAG
GTCGCCATGGCTACCGAGCCCGAAGCCGCGGAGCCGGTGGTGCCTTCGCTCGTGGATCGATACTTCACTCGCTGGTACAAACCGGATGTCAAAGGAAAAT
TTTGTGAGGACCACTGTATACTACAGCACTCTAACCGAATATGTGTCATCACATTGGCAGAATCTCATCCAGTTCTTCAAAGTGGAAAAACAATTAAAAG
CATTTCCTATCAGATCAGTACCAACTGTAGCAGACTTCAGAACAAGGTCTCTGGGAAATTTAAGCGGGGGGCACAGTTTCTAACAGAGCTTGCACCTCTC
TGTAAGATTTACTGCTCAGATGGTGAAGAATATACTGTGTCTAGTTGTGTTAGAGGACGTTTGATGGAAGTGAATGAAAACATCCTCCATAAGCCATCTA
TTCTTCAAGAAAAGCCATCTACTGAAGGCTACATTGCAGTTGTGTTACCCAAATTTGAAGAAAGTAAAAGCATAACAGAAGGGTTACTGACACAAAAACA
ATATGAAGAAGTCATGGTGAAACGCATTAATGCCACAACAGCTACGTCATGAGGATTGACATGGAACAAAAAGCAAAGTGGGATTCTTGTTACCTGGCCT
AAACCATCAGGGTACTAAAGGAGAAGAACCAGTATATGTAAAGCATACCTAACAGCCAGCCATATGCAGGGGAGGCCTAGTGCTTCACTTAGTTTTCCCT
CTCTGTCTTCATAATGAGCCTTGGTTCCCATTTGTCTACAGCCTGCCAGATCTGGCCTGCCCATGTACTCACACTGTTCTCTTGCATCTCTCTAACAACT
GGCATGCAAGGCATGTTTTTCTGATTAAAAACAAACAAAGCTCTTTGAAGAAGATTTAGAAAATACAGAAGAGTTTTAAGTAGCCAAGTAAAAATAATTT
ACCCATCATCCCATAATCCAGAAGTAAATACATTTGACCCTTGAGCAACATAGGTTTGAACTGCAAGGGTCCACTTATGCATGGACTATTTTCAACTATA
AACGAGTCAAAAATATATCATTAACCAAACACGAAACCCACTTATAGAGCAGGTTCATATACTCAGGTTCCAAAGGGCCAACTGCAGGACTTGAGTTCTC
ACGTATGGATTTGGGTATATGTGGAAGTTCCTGGAACCAATCCCCTATGTAAACCAAGGGATAACTACTACATTTTAACCTACTTCTGTTTGAACATATG
GTATGGTTATTGCTTTTGCCTCGTTTTCCTAACAGTTTGAAGTTTAAAAAAACCTAACCCACCTTTCTTACCCAGTCTTCTATAATGTGCCTACCAAAAA
GCCTAGTCCTAGCCCATCTGCCTCAACTCCTCTCCCTTTTAGGTTGTAGGGAAGAGGCCGGAGTGTAGAGTATATTATATCTTCTGTCCCCCTTATGCCA
ACAAGATGGCCTTCCCCTCTGAAACAAAGTAAAACTGCAACACTGTGACTTCTTAAATGAGGGATATGTGAAAAGGCTATGAAAAATACAAAGGCTTTCC
TAGGAAATGTGTTATAATGCAGCGGGAAGCTAATTCTTGAAATATGCACATTATAGTTACTCAGTCTCACATACTCTAGTTACTGGCAAAGAAGTTACTG
AGAATATGTCATTCAAAGGCATAGGGGCCTTTGAATGGAACAAATGCTTTCACATCATTTAAAGTAAAAAAAAACCTCCAACAACTGTGAATTTATAGTT
TAAGAGTGATTTACACTGAATTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATACATGTCAATATCACTGTTTTTAAATA
AAATATACTTTTATACAGAAGAAAT


Protein Sequence     (SEQ ID NO:400):
MATEPEAAEPVVPSLVDRYFTRWYKPDVKGKFCEDHCILQHSNRICVITLAESHPVLQSGKTIKSISYQISTNCSRLQNKVSGKFKRGAQFLTELAPLCK
IYCSDGEEYTVSSCVRGRLMEVNENILHKPSILQEKPSTEGYIAVVLPKFEESKSITEGLLTQKQYEEVMVKRINATTATS*



SNP Information


Context              (SEQ ID NO:2710):
CTTCTATAATGTGCCTACCAAAAAGCCTAGTCCTAGCCCATCTGCCTCAACTCCTCTCCCTTTTAGGTTGTAGGGAAGAGGCCGGAGTGTAGAGTATATT
R
TATCTTCTGTCCCCCTTATGCCAACAAGATGGCCTTCCCCTCTGAAACAAAGTAAAACTGCAACACTGTGACTTCTTAAATGAGGGATATGTGAAAAGGC
Celera SNP ID:                hCV27094128
SNP Position Transcript:      1677
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:400, None



Context              (SEQ ID NO:2711):
GTGAATTTATAGTTTAAGAGTGATTTACACTGAATTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATACATGTCAATATC
M
CTGTTTTTAAATAAAATATACTTTTATACAGAAGAAAT
Celera SNP ID:                hCV11720300
SNP Position Transcript:      2087
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:400, None



Context              (SEQ ID NO:2712):
TTTCAAATAAAAGGACTATAAAACGTGTTATTTTTCTGTAAGGGCTATAACATACATGTCAATATCACTGTTTTTAAATAAAATATACTTTTATACAGAA
R
AAAT
Celera SNP ID:                hCV27466455
SNP Position Transcript:      2121
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:400, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT1814575 - 83000099460719
Public Transcript Accession:  NM_000028
Celera Protein:               hCP1769436 - 197000064921204
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:140):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACT
TCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGTCTCACTATGTTGCCCAGGTTGATATTGAACTCCTGGACTCA
AGCAACCCTCCCTCTTTGGCCTCTGAAAGTACTGGGATTACAAGCATAAGCCACCGGGCATGGCCCCAATTCTGAGCATTAATTTATTTATTGGGTATGA
GCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTTTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTC
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGT
GGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTG
CCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCA
ATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGA
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
CGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCT
CCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGC
CCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGA
GATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGC
AGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGT
TCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTA
ATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCC
GCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTAC
CCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGAT
TACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGG
ATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACAT
GAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATG
GGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGT
TGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAA
AATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAA
GATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAG
CATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAA
TGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTA
TATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTT
GGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTA
TGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGT
TTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCA
GAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTC
TATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTG
AATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGA
AGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAA
CAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATT
GAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCA
ACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGA
ATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAAT
CTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTG
TTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATAC
CTAATAAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGA
AATTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTAC
TTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAAT
CCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCT
TGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGT
ACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAA
AATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAG
AAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACAT
TATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGAT
AAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGC
TGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATG
TCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:401):
MAPILSINLFIGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVG
ADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDV
VYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRL
LTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKL
GPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEIT
ATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAI
AHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKG
FIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESK
IVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEK
EDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYT
TLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGR
YVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQ
FRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRH
GKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKT
LDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCE
TQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2713):
CTGAAAGTACTGGGATTACAAGCATAAGCCACCGGGCATGGCCCCAATTCTGAGCATTAATTTATTTATTGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      323
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 22,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2714):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3096
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 946,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2715):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      582
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 108,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2716):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      3969
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1237,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2717):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 685,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2718):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGTCTCACTATGTTGCCCAGGTTGATAT
Celera SNP ID:                hCV566770
SNP Position Transcript:      84
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2719):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4670
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1471,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2720):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 369,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2721):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:401, 53,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:401, 53,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2722):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3470
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1071,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2723):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1105
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:401, 282,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2724):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4553
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1432,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2725):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3013
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:401, 918,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2726):
GGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGAAACTGGGT
Celera SNP ID:                hCV11894038
SNP Position Transcript:      59
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2727):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3410
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1051,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1051,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1051,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2728):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      3893
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 1212,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2729):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1494
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 412,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2730):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      897
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 213,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 213,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2731):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3554
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1099,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1099,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2732):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3655
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 1132,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2733):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      3830
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1191,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1191,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2734):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3642
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1128,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2735):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1371
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 371,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 371,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2736):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4060
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:401, 1267,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2737):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1800
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 514,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2738):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      3863
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 1202,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2739):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2801
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 848,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2740):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2250
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:401, 664,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2741):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4403
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:401, 1382,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2742):
CTCACTATGTTGCCCAGGTTGATATTGAACTCCTGGACTCAAGCAACCCTCCCTCTTTGGCCTCTGAAAGTACTGGGATTACAAGCATAAGCCACCGGGC
R
TGGCCCCAATTCTGAGCATTAATTTATTTATTGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTA
Celera SNP ID:                hCV31051733
SNP Position Transcript:      260
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2743):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5082
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2744):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5542
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2745):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      5838
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2746):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6034
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2747):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6106
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2748):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6351
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2749):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      6868
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2750):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7122
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Context              (SEQ ID NO:2751):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7171
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:401, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT22678 - 83000099460795
Public Transcript Accession:  NM_000645
Celera Protein:               hCP45415 - 197000064921206
Public Protein Accession:     NP_000636
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:141):
TGTATAAGAATTTGCACATCCCAAGTTGCTATGTGAATAGGAATGCGTTTCCAGGGGAAGGAGAAAGAGACATTACAGAGCAGACAGCTCTATGATGTTT
ACTATACTTGCTAAAATGTGAAATTCAGCTAAATTGGAATACAAAGTAGTGCCAAAACAGCATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAAT
CAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGA
GCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTTTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTC
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGT
GGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTG
CCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCA
ATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGA
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
CGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCT
CCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGC
CCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGA
GATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGC
AGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGT
TCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTA
ATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCC
GCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTAC
CCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGAT
TACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGG
ATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACAT
GAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATG
GGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGT
TGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAA
AATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAA
GATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAG
CATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAA
TGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTA
TATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTT
GGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTA
TGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGT
TTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCA
GAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTC
TATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTG
AATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGA
AGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAA
CAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATT
GAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCA
ACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGA
ATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAAT
CTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTG
TTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATAC
CTAATAAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGA
AATTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTAC
TTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAAT
CCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCT
TGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGT
ACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAA
AATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAG
AAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACAT
TATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGAT
AAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGC
TGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATG
TCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:402):
MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGA
DNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVV
YNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLL
TQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLG
PVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITA
TYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIA
HALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGF
IQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKI
VKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKE
DGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTT
LLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRY
VEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQF
RERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHG
KAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTL
DPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCET
QAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2752):
CATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAATCAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTA
Y
GATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTAC
Celera SNP ID:                hCV16195671
SNP Position Transcript:      261
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,4)  african american(C,21|T,17)  total(C,47|T,21)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:402, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2753):
TAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      323
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 21,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2754):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3096
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 945,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2755):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      582
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 107,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2756):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      3969
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1236,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2757):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 684,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2758):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4670
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1470,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2759):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 368,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2760):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:402, 52,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:402, 52,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2761):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3470
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1070,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2762):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1105
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:402, 281,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2763):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4553
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1431,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2764):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3013
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:402, 917,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2765):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3410
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1050,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1050,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1050,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2766):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      3893
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 1211,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2767):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1494
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 411,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2768):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      897
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 212,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 212,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2769):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3554
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1098,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1098,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2770):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3655
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 1131,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2771):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      3830
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1190,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1190,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2772):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3642
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1127,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2773):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1371
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 370,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 370,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2774):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4060
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:402, 1266,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2775):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1800
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 513,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2776):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      3863
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 1201,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2777):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2801
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 847,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2778):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2250
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:402, 663,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2779):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4403
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:402, 1381,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2780):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5082
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2781):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5542
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2782):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      5838
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2783):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6034
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2784):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6106
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2785):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6351
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2786):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      6868
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2787):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7122
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Context              (SEQ ID NO:2788):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7171
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:402, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT23064 - 83000099460869
Public Transcript Accession:  NM_000028
Celera Protein:               hCP45416 - 197000064921208
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:142):
CCCGGAAGTGGGCCAGAGGTACGGTCCGCTCCCACCTGGGGCGAGTGCGCGCACGGCCAGGTTGGGTACCGGGTGCGCCCAGGAACCCGCGCGAGGCGAA
GTCGCTGAGACTCTGCCTGCTTCTCACCCAGCTGCCTCGGCGCTGCCCCGGTCGCTCGCCGCCCCTCCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGG
GCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCCCCGACCGTAGCACCAGAGTCGCGGGTCCTGCAGT
GCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAA
ATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCC
GATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTG
GGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAG
AAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAG
CTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGG
ACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTA
GTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGAACATCCAGAAT
GTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAA
AGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTTTGGGAA
TTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTA
CGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAAT
TGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTT
TTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCAT
TTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCC
TCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAG
GACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTC
ACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTT
TGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCT
GTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGC
ATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCA
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
GCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAA
GACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTG
CATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCA
GATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAG
AAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTCGAAATCATCT
GACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACT
TTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATG
CAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGAT
TGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGT
TACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTT
CAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACC
TTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGA
AGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATG
GTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAAT
GGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTG
TTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAG
GTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGA
CAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTA
TCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACA
ACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGG
AGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCT
TTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACA
ATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAG
ATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTT
CCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGT
TTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCT
CATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATAT
CATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTCTATTTGTACAG
AAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTG
GTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCT
ACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTT
ATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAA
GATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAG
TCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAA
AATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCAC
AAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGA
AAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATA
ATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAG
AAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTAT
CTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTT
AAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATA
TACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTT
GATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTT
CACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTG
GTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTA
TGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTA
TTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTT
AATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTAC
TGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:403):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2789):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      512
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 38,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2790):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3285
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 962,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2791):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      771
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 124,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2792):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      4158
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1253,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2793):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2501
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 701,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2794):
CGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:                hCV566770
SNP Position Transcript:      416
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 6,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2795):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4859
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1487,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2796):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1555
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 385,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2797):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      607
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:403, 69,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:403, 69,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2798):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3659
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1087,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2799):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1294
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:403, 298,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2800):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4742
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1448,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2801):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3202
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:403, 934,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2802):
GTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:                hCV11894038
SNP Position Transcript:      391
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2803):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3599
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1067,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1067,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1067,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2804):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      4082
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 1228,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2805):
CCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGGGCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCC
S
CGACCGTAGCACCAGAGTCGCGGGTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTC
Celera SNP ID:                hCV27853782
SNP Position Transcript:      267
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|G,3)  african american(C,30|G,0)  total(C,61|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2806):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1683
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 428,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2807):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      1086
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 229,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 229,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2808):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3743
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1115,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1115,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2809):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3844
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 1148,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2810):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      4019
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1207,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1207,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2811):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3831
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1144,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2812):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1560
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 387,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 387,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2813):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4249
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:403, 1283,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2814):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1989
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 530,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2815):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      4052
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 1218,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2816):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2990
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 864,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2817):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2439
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:403, 680,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2818):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4592
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:403, 1398,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2819):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5271
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2820):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5731
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2821):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      6027
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2822):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6223
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2823):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6295
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2824):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6540
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2825):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      7057
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2826):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7311
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Context              (SEQ ID NO:2827):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7360
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:403, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT23065 - 83000099460681
Public Transcript Accession:  NM_000028
Celera Protein:               hCP45417 - 197000064921203
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:143):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTGTAAGCAGAAGTGCCATTCGGAGTCTCCAGAGCCCTGTGGCTTGGGGCTGGGAATGTCCCCCTGACTTCA
GGCTTTCCTAAGTGTATTGCTTTTCTCTGAGAATGGTCTAGGTTTTTAATTTTTTAATTGTAAGAATCTGTAATACAGCATTTTTATTTCGGTCTTATTC
GTTGTGCTCAAAGGCAGGAAACAACTATTAATTTGCCTTCTCGAATCTTAATAGTTATAAGATTCATTCTCTTTCATTGCTCTGCTAGGCATAAAACACA
CTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAACAGATTC
GAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGG
AAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAACAGAAAGAGAA
GATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAG
TTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGA
TGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCC
CTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAAT
GGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGAACATCCAGAATGTGCCTATAATCTTGTGAATTC
TCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAGAAAAGGGAATACCTGCTTTG
ATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTTTGGGAATTTTTCCAAGTAGATGTCAACA
AAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATA
CAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTT
CATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAAC
GACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCAT
GGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTCTTCGAAACTTTGCTGAACCG
GGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGACTGTCCTTATCTCTGGGCAC
ACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTCACGTAGCTGAGTACATGTTGGA
TGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTGTTACTAGACTGGGCATTAGT
TCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGTTGGATCCTTTGTTCAGCCCT
GTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGCATAGATCAGCGTATGATGCTCT
TCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAA
CGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAAC
TTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCA
GTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAA
GTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAG
AACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTC
TCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTCGAAATCATCTGACACAATTCAGTCCTCACTTT
AAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCC
TTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTC
TGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTT
ATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTG
ATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTC
ATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACA
AAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTA
GAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGG
TGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATT
CTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAA
TGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGT
TGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATC
CCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTT
ATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGT
TTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGAC
TATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAAT
TGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAA
AGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACT
GCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATG
CCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGC
AATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCT
CAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTG
AGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAA
TAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTGGTTCATTAATATTAACACCACG
TACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGA
GCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGA
AACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATG
GAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCT
AGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAG
ATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACA
TTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCAT
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
CTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTC
TGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCT
GACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATC
TGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGG
GTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAG
GTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCA
TTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAG
ATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTA
GATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTT
GGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTG
GGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCA
TTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:404):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2828):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      590
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 38,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2829):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3363
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 962,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2830):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      849
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 124,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2831):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      4236
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1253,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2832):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2579
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 701,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2833):
AAACACACTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:                hCV566770
SNP Position Transcript:      494
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 6,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2834):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4937
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1487,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2835):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1633
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 385,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2836):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      685
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:404, 69,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:404, 69,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2837):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3737
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1087,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2838):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1372
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:404, 298,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2839):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4820
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1448,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2840):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3280
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:404, 934,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2841):
CTCTTTCATTGCTCTGCTAGGCATAAAACACACTTCGAACATGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:                hCV11894038
SNP Position Transcript:      469
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2842):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3677
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1067,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1067,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1067,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2843):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      4160
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 1228,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2844):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1761
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 428,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2845):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      1164
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 229,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 229,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2846):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3821
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1115,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1115,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2847):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3922
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 1148,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2848):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      4097
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1207,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1207,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2849):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3909
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1144,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2850):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1638
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 387,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 387,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2851):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4327
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:404, 1283,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2852):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      2067
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 530,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2853):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      4130
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 1218,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2854):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      3068
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 864,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2855):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2517
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:404, 680,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2856):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4670
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:404, 1398,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2857):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5349
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2858):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5809
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2859):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      6105
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2860):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6301
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2861):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6373
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2862):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6618
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2863):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      7135
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2864):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7389
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Context              (SEQ ID NO:2865):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7438
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:404, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT2328473 - 83000099460757
Public Transcript Accession:  NM_000028
Celera Protein:               hCP1788564 - 197000064921205
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:144):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAAT
GGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGA
TTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGG
AAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAA
AAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAGCT
AAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGGAC
TATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGT
GGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGAACATCCAGAATGT
GCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAG
AAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTTTGGGAATT
TTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACG
ATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTG
AAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTT
GGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTT
GAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTC
TTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGA
CTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTCAC
GTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTG
TTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGT
TGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGCAT
AGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGA
TTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGC
CAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGA
CACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCA
TCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGA
TATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAA
ATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTCGAAATCATCTGA
CACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTT
GGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCA
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
ACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTA
CCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCA
ACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTT
ATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAG
GGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGT
CTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGG
TTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTT
TGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGT
TTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACA
GAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATC
CAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAAC
TTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAG
CTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTT
GGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAAT
GACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGAT
TGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCC
AGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTT
ATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCA
TTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCA
TTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTCTATTTGTACAGAA
ATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAATACGCTGTGGT
TCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAGTTTCCATCTAC
AATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTAT
ATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGA
TAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTC
ATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAA
TATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAA
AAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAA
ACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAAT
GGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAA
AACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCT
GCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAA
GGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATA
CCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGA
TATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCA
CAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGT
TCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATG
GTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATT
TCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAA
TAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTG
TGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:405):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2866):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      310
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 38,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2867):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3083
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 962,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2868):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      569
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 124,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2869):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      3956
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1253,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2870):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2299
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 701,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2871):
GAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:                hCV566770
SNP Position Transcript:      214
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 6,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2872):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4657
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1487,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2873):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1353
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 385,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2874):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:405, 69,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:405, 69,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2875):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3457
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1087,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2876):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1092
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:405, 298,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2877):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4540
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1448,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2878):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3000
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:405, 934,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2879):
GGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:                hCV11894038
SNP Position Transcript:      189
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2880):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1067,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1067,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1067,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2881):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      3880
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 1228,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2882):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1481
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 428,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2883):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      884
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 229,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 229,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2884):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3541
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1115,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1115,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2885):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3642
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 1148,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2886):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      3817
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1207,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1207,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2887):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3629
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1144,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2888):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1358
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 387,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 387,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2889):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4047
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:405, 1283,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2890):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1787
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 530,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2891):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      3850
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 1218,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2892):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2788
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 864,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2893):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2237
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:405, 680,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2894):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4390
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:405, 1398,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2895):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5069
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2896):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5529
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2897):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      5825
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2898):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6021
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2899):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6093
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2900):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6338
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2901):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      6855
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2902):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7109
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Context              (SEQ ID NO:2903):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7158
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:405, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT2328477 - 83000099460907
Public Transcript Accession:  NM_000645
Celera Protein:               hCP1788568 - 197000064921209
Public Protein Accession:     NP_000636
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:145):
TGTATAAGAATTTGCACATCCCAAGTTGCTATGTGAATAGGAATGCGTTTCCAGGGGAAGGAGAAAGAGACATTACAGAGCAGACAGCTCTATGATGTTT
ACTATACTTGCTAAAATGTGAAATTCAGCTAAATTGGAATACAAAGTAGTGCCAAAACAGCATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAAT
CAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGA
GCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGT
TCTCTGGATTGGGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTC
AAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCA
GACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTG
CAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATG
TTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGA
ACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAA
GGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTA
AACTTTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAA
CCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGG
CCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAG
TTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTT
TACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATG
GGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGA
ATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTC
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
GACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATG
GAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTG
TCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTA
GTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCG
GCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGA
AGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGC
AAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGA
ATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGG
GCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTT
GGAATTCTTCGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTT
CTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAA
CTGGTCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTG
AGATCTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCT
ACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTC
AAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCA
CCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTG
GTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATT
TGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGT
ATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTG
GCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGA
TCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATG
GATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTG
TTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTG
GAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGC
ATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTA
CAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAAT
TTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGT
GCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGA
GATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGA
GACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGC
TCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAA
TTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCAT
GTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAA
TACATACTGAATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATG
AATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAAT
GAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTG
AGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTC
TAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACA
TTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGC
CTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGT
TTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCT
CATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTA
TGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGT
GTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAAT
AGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAG
TTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTT
TGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGT
GACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTG
TTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCAT
GTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTG
ATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGT
TTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATT
TCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:406):
MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGA
DNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVV
YNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLL
TQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLG
PVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITA
TYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIA
HALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKVV
LSASQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNE
SKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESE
EKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGA
YTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLIT
GRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQG
IQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVK
RHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGM
KTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFS
CETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2904):
CATTAGGTTTGCGGAGTTATTTTAAACATAATTGAAAAATCAAGGTTTTTTAATACTTTAAATAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTA
Y
GATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTAC
Celera SNP ID:                hCV16195671
SNP Position Transcript:      261
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,4)  african american(C,21|T,17)  total(C,47|T,21)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:406, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2905):
TAAAACATCTGTTTTTCAATGTGGTAATTTAAGTCCTACGATGAGTTTATTAACATGTGCTTTTTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      323
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 21,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2906):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3105
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 948,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2907):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      582
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 107,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2908):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      3978
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1239,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2909):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGC
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2312
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 684,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2910):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4679
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1473,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2911):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1366
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 368,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2912):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:406, 52,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:406, 52,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2913):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3479
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1073,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2914):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1105
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:406, 281,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2915):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4562
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1434,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2916):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3022
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:406, 920,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2917):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3419
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1053,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1053,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1053,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2918):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      3902
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 1214,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2919):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1494
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 411,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2920):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      897
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 212,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 212,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2921):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3563
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1101,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1101,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2922):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3664
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 1134,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2923):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      3839
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1193,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1193,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2924):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3651
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1130,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2925):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1371
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 370,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 370,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2926):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4069
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:406, 1269,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2927):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1800
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 513,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2928):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      3872
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 1204,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2929):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2810
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 850,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2930):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2250
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:406, 663,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2931):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4412
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:406, 1384,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2932):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5091
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2933):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5551
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2934):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      5847
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2935):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6043
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2936):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6115
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2937):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6360
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2938):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      6877
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2939):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7131
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Context              (SEQ ID NO:2940):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7180
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:406, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT2328478 - 83000099460831
Public Transcript Accession:  NM_000028
Celera Protein:               hCP1788566 - 197000064921207
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:146):
CTGTCTACGGCAGCTATTCCAGAGGCAACAACTGCTTCCCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCC
ACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGAC
CCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGA
GAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAAT
CTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGT
GCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGC
TACAACATGATTCATTTTACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGAC
CTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATAC
TGCTGCTAATAGTAAATGGATCCAGGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTT
TGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAA
TTTGGGAGGATATTTTTCCAAAGCTTAAACTTTGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAA
TAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTA
ACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGAC
TCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAG
AAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTT
CTGATGGCACACAATGGATGGGTAATGGGAGATGATCCTCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGG
GAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCA
GGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCT
GAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATG
AAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCTGTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTT
TATGGATATTACGCATGATAATGAGTGTCCTATTGTGCATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGT
GGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAA
ACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTA
TGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCC
AAGACTTCATTTTACAGCAAGGAAGTGCCTCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAAC
CTTATAGGAAGGATGAGAATTCAATCAATGGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGC
TGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCA
CATGCACAAGTCGCTGTTGGAATTCTTCGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATAT
TAAAAATTCCTTTTGCTTCTCTTGCCTCCAGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGG
GTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCAT
CCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGT
TGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATAC
AGCATGGAAGCAGATGTCAAGCTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCT
TCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCT
TACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAG
GAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTG
TGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATT
CTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAA
TGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTC
AATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGG
GCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAA
GGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAAT
CTGGTTCACAAACGTGGCATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGG
CCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGA
TATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
ATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGAC
ATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTC
AATTGCTACTATTCTTGAGACACTTTATGATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAA
TGCCTTATATGCACAGGCTCAAGTTGTTTTAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATG
TACAGAGGTAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGT
TTGGAAAAGAAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATA
TATAATCTTCAGTAACAATACATACTGAATACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATA
AATATTTAATAAATGATGAATGATAGAAGTTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATA
TATTAATTTTTGTGTAATGAATGCCAACAGTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGT
TTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAG
AATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCT
ACATTGACAAGTTTAACATTGAGAAGAATCTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGA
TAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTA
GATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCT
ATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACA
TACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATAC
CCATGCTTGAAAGCTCGTGTAATTTACTTTAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCT
GGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAA
TCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTAT
CAAAGGTTTATGTAGTTTTGTTGCTGTACCCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAA
TCGCTGACAGTTAAATGTGACCAAAAAAATTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTA
AATTTTTAGGATATTGTGTTGCACTAGAAAACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTT
TAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGA
ATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATG
ATAAATGAATTTACCAGTTTAGTATGCTGTGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACA
TGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTA
AAGGTCTGTA


Protein Sequence     (SEQ ID NO:407):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTP
DITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPR
YLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWG
RDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLEL
SKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
PELTNENAQYCPFSCETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2941):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      250
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 38,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2942):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3023
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 962,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2943):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      509
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 124,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2944):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      3896
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1253,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2945):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAG
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2239
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 701,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2946):
CCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:                hCV566770
SNP Position Transcript:      154
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 6,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2947):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4597
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1487,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2948):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1293
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 385,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2949):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      345
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:407, 69,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:407, 69,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2950):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3397
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1087,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2951):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1032
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:407, 298,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2952):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4480
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1448,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2953):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      2940
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:407, 934,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2954):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1067,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1067,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1067,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2955):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      3820
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 1228,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2956):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1421
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 428,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2957):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      824
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 229,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 229,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2958):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3481
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1115,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1115,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2959):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3582
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 1148,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:2960):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      3757
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1207,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1207,(A,GCA) (T,ACA)



Context              (SEQ ID NO:2961):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3569
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1144,(I,ATT) (N,AAT)



Context              (SEQ ID NO:2962):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1298
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 387,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 387,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:2963):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      3987
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:407, 1283,(A,GCT) (A,GCC)



Context              (SEQ ID NO:2964):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1727
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 530,(S,TCA) (*,TGA)



Context              (SEQ ID NO:2965):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      3790
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 1218,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2966):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2728
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 864,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2967):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2177
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:407, 680,(*,TAG) (W,TGG)



Context              (SEQ ID NO:2968):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4330
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:407, 1398,(G,GGG) (W,TGG)



Context              (SEQ ID NO:2969):
CCTCTGTTCTCATCTCCCCATTGGTGGCTGGCGACCCGAATTTGGGAATGGGGAGATTGCCCACCTGTTATCTTTGAGCAGACTAATCTCTTAAGCCAAA
R
TGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCG
Celera SNP ID:                hCV11894038
SNP Position Transcript:      139
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     Acceptor splice site
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2970):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5009
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2971):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5469
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2972):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      5765
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2973):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      5961
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2974):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6033
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2975):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6278
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2976):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      6795
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2977):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7049
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Context              (SEQ ID NO:2978):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7098
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:407, None



Gene Number:                  59
Celera Gene:                  hCG31497 - 83000099460680
Celera Transcript:            hCT2328479 - 83000099460943
Public Transcript Accession:  NM_000028
Celera Protein:               hCP1788569 - 197000064921210
Public Protein Accession:     NP_000019
Gene Symbol:                  AGL
Protein Name:                  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranch
ing enzyme, glycogen storage disease type III)

Celera Genomic Axis:          GA_x5YUV32VY6P(3688993..3774927)
Chromosome:                   1
OMIM NUMBER:                  232400
OMIM Information:             Glycogen storage disease IIIa (3); Glycogen storage disease IIIb (3)


Transcript Sequence  (SEQ ID NO:147):
CCCGGAAGTGGGCCAGAGGTACGGTCCGCTCCCACCTGGGGCGAGTGCGCGCACGGCCAGGTTGGGTACCGGGTGCGCCCAGGAACCCGCGCGAGGCGAA
GTCGCTGAGACTCTGCCTGCTTCTCACCCAGCTGCCTCGGCGCTGCCCCGGTCGCTCGCCGCCCCTCCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGG
GCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCCCCGACCGTAGCACCAGAGTCGCGGGTCCTGCAGT
GCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAA
ATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCC
GATTAGGCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTG
GGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAG
AAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAG
CTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATGATTCATTTTACCCCATTGCAGACTCTTGG
ACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAATTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTA
GTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCCAGGAACATCCAGAAT
GTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCAGAAGGGAAATACAA
AGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTTTGGGAA
TTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTA
CGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAAT
TGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTT
TTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCAGGTATTTTACTTTCCCAT
TTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGGGTAATGGGAGATGATCC
TCTTCGAAACTTTGCTGAACCGGGTTCAGAAGTTTACCTAAGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAG
GACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTC
ACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTGGACAATGTCTT
TGTTACTAGACTGGGCATTAGTTCCTTAATAAGAGAGGCAATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCT
GTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTGTTTATGGATATTACGCATGATAATGAGTGTCCTATTGTGC
ATAGATCAGCGTATGATGCTCTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCA
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
GCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGG
CAGTAACAAGACACTCACCTAGCATCCATCAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGCAAGGAAGTGCC
TCAAATGTGCATCCCTGGCAAAATTGAAGAAGTAGTTCTTGAAGCTAGAACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAAT
GGAACACCAGATATCACAGTAGAAATTAGAGAACATATTCAGCTTAATGAAAGTAAAATTGTTAAACAAGCTGGAGTTGCCACAAAAGGGCCCAATGAAT
ATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTTCG
AAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTCC
AGATTAACTTTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCC
TTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGA
TTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAG
ATCCCACGTTACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGATACAGCATGGAAGCAGATGTCAAGCTTTGTTC
AGAATGGTTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAAT
GGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGC
TGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCC
TGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTA
CTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGAT
CAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGA
AGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGG
AGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTG
CTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATGGAAAGGCTATAAAGGTCTCATATGATGAGTGGAACAGAAAAA
TACAAGACAACTTTGAAAAGCTATTTCATGTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGCATATACAAAGA
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
TGGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATG
CATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATA
TTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAGATCCCCTTGG
AAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGGTCAATTGCTACTATTCTTGAGACACTTTATG
ATTTATAGTTTATTACAGATATTAAGTATGCAATTACTTGTATTATAGGATGCAAGGTCATCATATGTAAATGCCTTATATGCACAGGCTCAAGTTGTTT
TAAAAATCTCATTTATTATAATATTGATGCTCAATTAGGTAAGATTGTAAAAGCATTGATTTTTTTTAATGTACAGAGGTAGATTTCAATTTGAATCAGA
AAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAAGAAAAATCATGTCATCTTCTA
TTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTTCAGTAACAATACATACTGAA
TACGCTGTGGTTCATTAATATTAACACCACGTACTATAGTATTCTTAATACAGTGCTCACTGCATTTAATAAATATTTAATAAATGATGAATGATAGAAG
TTTCCATCTACAATATATGTTCCTAAATGGAGCACAGATGTTCAAACTATGCTTTCATTTTTTCACTGATATATTAATTTTTGTGTAATGAATGCCAACA
GTATATTTTATATGATTTACTTATGTGAGGAAACATGCAAAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGA
GTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGTCGGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAAC
TATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAGTAGATACTGGTTTTCTATTAACTCAAAACCTACATTGACAAGTTTAACATTGAGAAGAAT
CTTAACAAAAATATGGATATGAATTCAGTAGATATCTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCT
TAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTACATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTT
TTCTTAAGAAAACAGTTAAATCATTATGCATTCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCT
AATAAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAA
TTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTT
TAAGATTATCTGCCTGCTCTTCTTCAAAGCTGACCTTGCTTTAGAAATAGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCC
TACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAATACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTG
TTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTCCTTGAGAGAACCATTAGTTTATCAAAGGTTTATGTAGTTTTGTTGCTGTAC
CCTAACTTTGATATTCAGGGAGGTAGGAAAGGTAACAGAAAACCAGCATATTTAATCAAAGCAAGAAGTAATCGCTGACAGTTAAATGTGACCAAAAAAA
TTAAAAGTTCACAATTTTTTTAATGTAGCCATTTGGGGTTATCTCTAGTAAGGCAGATACCCACGTTGGTAAATTTTTAGGATATTGTGTTGCACTAGAA
AACTAAGTGGTTCATATTTCTAATGAGGAAGATTAATGAAAGAACATTGTTATATTCTGCGTGGTATATTTTAAAGTTTAAGAAGGCATGTTAAACATTA
TTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTCGGTAGAATGCTTCATACTTGAGTGATGCTGGATAA
GGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTAACATGATAAATGAATTTACCAGTTTAGTATGCTG
TGGTATTTTAATAAGTTTTCAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTC
TTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA


Protein Sequence     (SEQ ID NO:408):
MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNE
KSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQL
VEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCL
LGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPE
DCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA
ARCAISKLHQELGAKVVLSASQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSIN
GTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLAS
RLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQ
IPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFR
CWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLD
QPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWL
LELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKA
WKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPW
KGLPELTNENAQYCPFSCETQAWSIATILETLYDL*



SNP Information


Context              (SEQ ID NO:2979):
TAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCA
R
CTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAATCCAAC
Celera SNP ID:                hCV25952842
SNP Position Transcript:      512
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 38,(T,ACT) (A,GCT)



Context              (SEQ ID NO:2980):
TCAGCCCTTAAATATGCAGGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGAT
S
TGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTG
Celera SNP ID:                hCV25612128
SNP Position Transcript:      3294
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 965,(S,TCT) (C,TGT)



Context              (SEQ ID NO:2981):
TTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCATGTGCTACCCT
W
GGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGCTACAACATG
Celera SNP ID:                hCV566774
SNP Position Transcript:      771
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 124,(L,TTG) (*,TAG)



Context              (SEQ ID NO:2982):
AGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATC
R
TTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGCTGTGGAAATT
Celera SNP ID:                hCV31051213
SNP Position Transcript:      4167
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1256,(R,CGT) (H,CAT)



Context              (SEQ ID NO:2983):
GATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGGAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA
K
CCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGTTGTTCTTTCTGCTTCTCAGGTGTATGTGGATCAAGTTGATGAAGACATAGTGGC
Celera SNP ID:                hCV27471187
SNP Position Transcript:      2501
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 701,(A,GCC) (S,TCC)



Context              (SEQ ID NO:2984):
CGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCTAGAAGCCAAAATGGGACACAGTAAA
Y
AGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTT
Celera SNP ID:                hCV566770
SNP Position Transcript:      416
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 6,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:2985):
GCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGTTAAAAATGTTCTTTCC
S
GACATTATGTTCATCTTGAGAGATCCCCTTGGAAAGGACTTCCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTG
Celera SNP ID:                hCV31051741
SNP Position Transcript:      4868
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1490,(R,CGA) (G,GGA)



Context              (SEQ ID NO:2986):
TTGCACTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAA
K
CATCGACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTG
Celera SNP ID:                hCV25612139
SNP Position Transcript:      1555
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 385,(K,AAG) (N,AAT)



Context              (SEQ ID NO:2987):
GCCCAACTTTACAGGGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAAAAATTCCGTTCTCTGGATTGGGAAAA
Y
CCAACAGAAAGAGAAGATGATTCTGATAAATACTGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGGAAATGAGAAAAGTG
Celera SNP ID:                hCV15852417
SNP Position Transcript:      607
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,31)  african american(C,0|T,38)  total(C,1|T,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:408, 69,(N,AAT) (N,AAC)

SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:408, 69,(N,AAT) (N,AAC)



Context              (SEQ ID NO:2988):
CCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCA
S
GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGC
Celera SNP ID:                hCV30493285
SNP Position Transcript:      3668
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1090,(G,GGC) (R,CGC)



Context              (SEQ ID NO:2989):
AATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCATATGAATTCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACT
Y
TGGGAATTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAAC
Celera SNP ID:                hCV190827
SNP Position Transcript:      1294
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,870|T,2074) ; no_pop(C,12|T,8) ; no_pop(C,-|T,-) ; no_pop(C,1
40|T,540) ; no_pop(C,70|T,170)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:408, 298,(L,CTT) (L,CTC)



Context              (SEQ ID NO:2990):
GAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCTAAAGGTTTCAATTATCACCAA
S
GACCTGAGTGGCTGTGGCCTATTGGGTATTTTCTTCGTGCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTGGT
Celera SNP ID:                hCV1007140
SNP Position Transcript:      4751
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1451,(G,GGA) (R,CGA)



Context              (SEQ ID NO:2991):
TGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGAGGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGC
M
GGTCTTCAAGGTTTAATGTCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTGAGATCTGGAGATTGGATGATTG
Celera SNP ID:                hCV25612137
SNP Position Transcript:      3211
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,35|C,1)  total(A,75|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:408, 937,(A,GCA) (A,GCC)



Context              (SEQ ID NO:2992):
GTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTCTTATGAAAGATTTCAAATCCTCT
R
GAAGCCAAAATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAGACCCTCTTCAGACTTGAACAAGGGTATGAGC
Celera SNP ID:                hCV11894038
SNP Position Transcript:      391
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1628|A,1356) ; no_pop(G,10|A,6) ; no_pop(G,-|A,-) ; no_pop(G,
870|A,1230) ; no_pop(G,120|A,120)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:2993):
TTCAACCTTTGTGAAACACCTTTCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCACCTGCCCTAATGGATGTA
Y
CTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGTTGTGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGG
Celera SNP ID:                hCV25612120
SNP Position Transcript:      3608
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,7|T,1)  total(C,40|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1070,(P,CCT) (S,TCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,7|T,1)  total(C,42|T,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1070,(P,CCT) (S,TCT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1762|T,54) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1070,(P,CCT) (S,TCT)



Context              (SEQ ID NO:2994):
CACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGAT
Y
GAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATGGA
Celera SNP ID:                hCV1007141
SNP Position Transcript:      4091
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 1231,(R,CGA) (*,TGA)



Context              (SEQ ID NO:2995):
CCCTTTGCCCTTCACGGCGCCCGGCCCTCCTTGGGCTGCGGCTTCTGTGCGAGGCTGGGCAGCCAGCCCTTCCCCTTCTGTTTCTCCCCGTCCCCTCCCC
S
CGACCGTAGCACCAGAGTCGCGGGTCCTGCAGTGCCCCAGAAGCCGCACGTATAACTCCCTCGGCGGGTAACTCATTCGACTGTGGAGTTCTTTTAATTC
Celera SNP ID:                hCV27853782
SNP Position Transcript:      267
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|G,3)  african american(C,30|G,0)  total(C,61|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:2996):
CAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACTAGAAAGCATCCTTTAGTTACCA
R
GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCCATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGATGG
Celera SNP ID:                hCV29989418
SNP Position Transcript:      1683
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 428,(R,AGG) (K,AAG)



Context              (SEQ ID NO:2997):
GATGTTGGACAGCTAGTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCATACTGCTGCTAATAGTAAATGGATCC
R
GGAACATCCAGAATGTGCCTATAATCTTGTGAATTCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGATGTTGCA
Celera SNP ID:                hCV25612146
SNP Position Transcript:      1086
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,35|G,1)  african american(A,8|G,0)  total(A,43|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 229,(Q,CAG) (R,CGG)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 229,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:2998):
TGTTTCTCTAGCTGCAGGCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGAAGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACT
R
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
Celera SNP ID:                hCV16182201
SNP Position Transcript:      3752
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,5|G,33)  african american(A,0|G,8)  total(A,5|G,41)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1118,(G,GGA) (R,AGA)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2346|A,630) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1118,(G,GGA) (R,AGA)



Context              (SEQ ID NO:2999):
GACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAATTTATGCCAGATA
S
AATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCCAGAA
Celera SNP ID:                hCV27859145
SNP Position Transcript:      3853
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 1151,(Y,TAC) (*,TAG)



Context              (SEQ ID NO:3000):
CATTCTCAAGTGCCCAGTTTCCAGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAA
R
CAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGG
Celera SNP ID:                hCV3193463
SNP Position Transcript:      4028
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,36)  african american(A,1|G,7)  total(A,1|G,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1210,(A,GCA) (T,ACA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,994|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1210,(A,GCA) (T,ACA)



Context              (SEQ ID NO:3001):
CTGCTGATTACTGGACGCTATGTAGAAGCCAGGAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTGGGTGAAGGAA
W
TTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGTATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGC
Celera SNP ID:                hCV25612106
SNP Position Transcript:      3840
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1147,(I,ATT) (N,AAT)



Context              (SEQ ID NO:3002):
CTAACGACTTTCATACCACATGACAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAATTAAATTCAGAGAAGCATC
R
ACTCATTAACTATCATCAGGAACAGGCAGTTAATTGCCTTTTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT
Celera SNP ID:                hCV25764859
SNP Position Transcript:      1560
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,8)  total(A,1|G,45)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 387,(R,CGA) (Q,CAA)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 387,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:3003):
GAGGAAATCGTTTCAATTGTGGCACATGGATGGATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAGAGATGGGTCTGC
Y
GTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTATCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG
Celera SNP ID:                hCV25612155
SNP Position Transcript:      4258
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,35)  african american(C,0|T,8)  total(C,1|T,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:408, 1286,(A,GCT) (A,GCC)



Context              (SEQ ID NO:3004):
AATAAACCAGAGGACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTCCAGGGAGTACGTCTTGATAACTGCCACT
S
AACACCTCTTCACGTAGCTGAGTACATGTTGGATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGTGAAGATCTG
Celera SNP ID:                hCV27860958
SNP Position Transcript:      1989
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 530,(S,TCA) (*,TGA)



Context              (SEQ ID NO:3005):
TACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTGGATCAGCCATTGTTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTC
Y
GAGAAAGGAATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTTTTAATATAACTGCAGGAGTTGATGAAGAAACAGGATTTGTTTATGGAGG
Celera SNP ID:                hCV27540606
SNP Position Transcript:      4061
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 1221,(R,CGA) (*,TGA)



Context              (SEQ ID NO:3006):
ATATATTCAAGAAATAGAATTTGAAAACTTGTCTCCAGGAAGTGTTATTATATTCAGAGTTAGTCTTGATCCACATGCACAAGTCGCTGTTGGAATTCTT
Y
GAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCTGTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTCTCTTGCCTC
Celera SNP ID:                hCV877624
SNP Position Transcript:      2999
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 867,(R,CGA) (*,TGA)



Context              (SEQ ID NO:3007):
GTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTATGATGAATTAGTGCCTCATCAGATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGT
Y
GAATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCAGCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGA
Celera SNP ID:                hCV877623
SNP Position Transcript:      2439
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:408, 680,(*,TAG) (W,TGG)



Context              (SEQ ID NO:3008):
TAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAATTTTACCATAGCAATGGTTGTGGCCCCTGAGCTCTTTACTACAGAAAAAGCA
K
GGAAAGCTTTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGATGATATGGTTTACTGTGGAATTTATGACAATGC
Celera SNP ID:                hCV32321312
SNP Position Transcript:      4601
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:408, 1401,(G,GGG) (W,TGG)



Context              (SEQ ID NO:3009):
TAGATTTCAATTTGAATCAGAAAGAAATATCATTACCAATGAAATGTGTTTGAGTTCAGTAAGAATTATTCAAATGCCTAGAAATCCATAGTTTGGAAAA
K
AAAAATCATGTCATCTTCTATTTGTACAGAAATGAAAATAAAATATGAAAATAATGAAAGAAATGAAAAGATAGCTTTTAATTGTGGTATATATAATCTT
Celera SNP ID:                hCV8395384
SNP Position Transcript:      5280
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,936|G,630) ; no_pop(T,-|G,-) ; no_pop(T,42|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3010):
AAGCATTAGGAAATTTATTTCCTAAAAACAGTTTTGTAAAATTAGTATTGAGTTCTATTGAGTATTATAAGATAGCTTACATTTTCAAAATGGAAATTGT
Y
GGTCATATTTCTAGAACTTTAAAGAAAAAAGAATGTTATATTAGTTTTCTAAAACTCAACTATCTTTAGTCATGTTCAAAAATCTATTGCTAGATCATAG
Celera SNP ID:                hCV3193450
SNP Position Transcript:      5740
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,320|T,784) ; no_pop(C,9|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3011):
CTTAAATTCAATAAAATCACTGGAAGTTTTTCATGATAACTTATTTTAAGATGCCTTAAAAATCTTAAAGTCACAAAAGGAAAAAGGTTTTTAACATTTA
Y
ATGAGTTAACATTTTTTCATAGAACTTATTTCCTAGATAGAATTTTTTACTGTTTTTTACTGTTTTCTTAAGAAAACAGTTAAATCATTATGCATTCAGT
Celera SNP ID:                hCV3193449
SNP Position Transcript:      6036
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,12|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3012):
TCAGTTGGAAGAAAGTAGTGGCAAGAATTCTTTCATTGCTATATAATATTCAGTGGCTCATTTATACCTAATAAAATAATGGTATTTTAAAATAATGCTA
Y
TTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTAAAGAAGAAAACCAGCAAACTAAAACTTCT
Celera SNP ID:                hCV3193448
SNP Position Transcript:      6232
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,15|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3013):
AAAATAATGGTATTTTAAAATAATGCTACTTTCAAAGTAGCATTTTTTTAGTTAGTTTACAGGTTACATACCCAAAACCTTAACTATGACTAAGAAATTA
M
AGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAAAAATATATAAATGCTTCAGATGTCAAATACCCATGCTTGAAAGCTCGTGTAATTTACTTTAAG
Celera SNP ID:                hCV3193447
SNP Position Transcript:      6304
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,596|C,904) ; no_pop(A,12|C,4) ; no_pop(A,-|C,-) ; no_pop(A,40
8|C,308)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3014):
AGTTTTAACTAGCTTAGTTTTCTGGTTTCCAAAACTAAAATAGATTAAATCCTACAAATTTAAGGACAGTTGTGACAGTAATCTGACCACTATCTATAAA
Y
ACATTGGACATTGGTTTCCAAATCTCCCTTTCTTCTTCAGTTCCTTCCTTGTTCAATATATACCCTTCTCTAAACTGTGCGGGTAAAAGGAATGACTGTC
Celera SNP ID:                hCV3193446
SNP Position Transcript:      6549
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,1|T,9) ; no_pop(C,-|T,-) ; no_pop(C,118|T,2
34)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3015):
ATATTTTAAAGTTTAAGAAGGCATGTTAAACATTATTTCCTCTATGGTAGTTAAAATACAGAATTAGATTTTTAACAGGTGTCATTTGACTAAACGTTTC
R
GTAGAATGCTTCATACTTGAGTGATGCTGGATAAGGTATTGTATTTCAACAATGGACTATGCCTTGGTTTTTCACTAATCAAAATCAAAATTACTCTTTA
Celera SNP ID:                hCV31051244
SNP Position Transcript:      7066
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3016):
CAAAGATAATTGGGAAAACATGAGACTGGTCATATTGATGAATATTGTAACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGT
R
GGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTTCTAAAGGTCTGTA
Celera SNP ID:                hCV8395385
SNP Position Transcript:      7320
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Context              (SEQ ID NO:3017):
ACATGTGAATTGTGATCCATTTCTGATATGTCTTGAACTACTGTGTCTAGTGGGCAAATGTCATTGTTACCTCTGTGTGTTAAGAAAATAAAAATATTTT
Y
TAAAGGTCTGTA
Celera SNP ID:                hCV8395386
SNP Position Transcript:      7369
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:408, None



Gene Number:                  60
Celera Gene:                  hCG2039665 - 209000071840823
Celera Transcript:            hCT2344424 - 209000071840842
Public Transcript Accession:
Celera Protein:               hCP1909721 - 209000071840794
Public Protein Accession:
Gene Symbol:                  ABCC4
Protein Name:                  ATP-binding cassette, sub-family C (CFTR/MRP), member 4
Celera Genomic Axis:          GA_x5YUV32W8MG(8767245..9060595)
Chromosome:                   13
OMIM NUMBER:                  605250
OMIM Information:


Transcript Sequence  (SEQ ID NO:148):
GCGCCCGCCCCGCCCGGCAAGATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAACCTCTGCTCACGCGTGTTCTTCTGATGGA
GTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAGCCTCCACCTCCTGTGTTCAAGCAGTCCTCCTGCCTCAGCCACCAG
ACTAGCAGGTCTCCCCCGCCTCTTTCTTGGAAGGACACTTGCCATTGGATTTAGGACCCACTTGGATAATCCAGGATGATGTCTTCACTCCAACATCCTC
AGTTTAATTCCATGTGCAAATACCCTTTTCCCAAATAACATTCAATTCTTTACCAGGAAAGGTGGCTCAATCCCTTGTTTAAAATTGGCCATAAACGGAG
ATTAGAGGAAGATGATATGTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGAAGTTTTAAGAGCT
GAGAATGACGCACAGAAGCCTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTAATTGAGGAAAGTG
CCAAAGTAATCCAGCCCATATTTTTGGGAAAAATTATTAATTATTTTGAAAATTATGATCCCATGGATTCTGTGGCTTTGAACACAGCGTACGCCTATGC
CACGGTGCTGACTTTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGC
CATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGT
TTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCT
TGCTGGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCC
AGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGA
AGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCAC
CTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCA
GCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGTCAGCTGCCGTCAG
ATGGTAAAAAGATGGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGACCTGG
CGAATTGTTAGCTGTGGTCGGCCCCGTGGGAGCAGGGAAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTG
CATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATG
AAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAACCACGCTGAGTGGAGG
GCAGAAAGCACGGGTAAACCTTGCAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGCGGAAGTTAGCAGA
CACTTGTTCGAACTGTGTATTTGTCAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGA
TATTGAAAGATGGTAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTATAGATTTTGGCTCCCTTTTAAAGAAGGATAATGAGGAAAG
TGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGT


Protein Sequence     (SEQ ID NO:409):
MLPVYQEVKPNPLQDANLCSRVFF*


SNP Information


Context              (SEQ ID NO:3018):
GCGCCCGCCCCGCCCGGCAAGATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAAC
M
TCTGCTCACGCGTGTTCTTCTGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAGCCTCCACCTCCTGTGTTC
Celera SNP ID:                hCV31356532
SNP Position Transcript:      73
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,535|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:409, 18,(L,CTC) (I,ATC)



Context              (SEQ ID NO:3019):
GTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGAAGTTTTAAGAGCTGAGAATGACGCACAGAAG
S
CTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTAATTGAGGAAAGTGCCAAAGTAATCCAGCCCAT
Celera SNP ID:                hCV31356485
SNP Position Transcript:      519
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,1|C,551)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3020):
TGCCACGGTGCTGACTTTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATG
K
GCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAA
Celera SNP ID:                hCV30633961
SNP Position Transcript:      798
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3021):
CTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACA
Y
GGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCA
Celera SNP ID:                hCV31356446
SNP Position Transcript:      838
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,550|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3022):
CTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATG
K
GGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACT
Celera SNP ID:                hCV31356445
SNP Position Transcript:      846
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,522|T,30)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3023):
CCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGAT
Y
GCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGT
Celera SNP ID:                hCV7466770
SNP Position Transcript:      956
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,7|C,27)  total(T,15|C,59)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,798|C,3310) ; no_pop(T,8|C,6) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3024):
ATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGC
Y
GGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGA
Celera SNP ID:                hCV31356444
SNP Position Transcript:      1004
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3025):
TCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCT
R
ATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATG
Celera SNP ID:                hCV31356443
SNP Position Transcript:      1019
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3026):
ATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAA
R
AGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAG
Celera SNP ID:                hCV31356439
SNP Position Transcript:      1164
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3027):
CCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAA
K
AAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCA
Celera SNP ID:                hCV16181780
SNP Position Transcript:      1199
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,174|G,930) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3028):
AGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCA
R
AGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGC
Celera SNP ID:                hCV30316196
SNP Position Transcript:      1237
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3029):
GGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAG
R
GGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCG
Celera SNP ID:                hCV25473870
SNP Position Transcript:      1238
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,15)  african american(G,15|A,23)  total(G,38|A,38)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,574|A,530) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3030):
CCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTC
R
TTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGC
Celera SNP ID:                hCV25473942
SNP Position Transcript:      1256
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,13)  african american(G,28|A,10)  total(G,51|A,23)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,686|A,418) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3031):
GAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGT
R
ATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGG
Celera SNP ID:                hCV31356438
SNP Position Transcript:      1322
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,550|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3032):
TCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGA
Y
GCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTT
Celera SNP ID:                hCV31356437
SNP Position Transcript:      1354
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3033):
CCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGTCAGCTGC
Y
GTCAGATGGTAAAAAGATGGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGA
Celera SNP ID:                hCV25611309
SNP Position Transcript:      1495
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,37)  total(T,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,1102|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3034):
CTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGACCTGGCGAATTGTTAGCTGTGGTCGGCCCCGTGGGAGCAGG
R
AAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGG
Celera SNP ID:                hCV29454129
SNP Position Transcript:      1637
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,7|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3035):
CACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTC
R
GGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGT
Celera SNP ID:                hCV31356420
SNP Position Transcript:      1745
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3036):
CTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGG
R
AACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTG
Celera SNP ID:                hCV31356419
SNP Position Transcript:      1747
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3037):
AAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAG
R
AATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCG
Celera SNP ID:                hCV25611298
SNP Position Transcript:      1779
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,1096|G,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3038):
ACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATA
Y
GAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAA
Celera SNP ID:                hCV7466669
SNP Position Transcript:      1784
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,7|C,31)  total(T,7|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1212|T,76) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3039):
CAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGCGGAAGTTAGCAGACACTTGTTCGAACTGTGTATTTG
Y
CAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGC
Celera SNP ID:                hCV31356405
SNP Position Transcript:      2024
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Context              (SEQ ID NO:3040):
ATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTAT
R
GATTTTGGCTCCCTTTTAAAGAAGGATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGT
Celera SNP ID:                hCV31356400
SNP Position Transcript:      2162
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:409, None



Gene Number:                  60
Celera Gene:                  hCG2039665 - 209000071840823
Celera Transcript:            hCT2344425 - 209000071840789
Public Transcript Accession:  NM_005845
Celera Protein:               hCP1909723 - 209000071840790
Public Protein Accession:     NP_005836
Gene Symbol:                  ABCC4
Protein Name:                  ATP-binding cassette, sub-family C (CFTR/MRP), member 4
Celera Genomic Axis:          GA_x5YUV32W8MG(8767245..9060595)
Chromosome:                   13
OMIM NUMBER:                  605250
OMIM Information:


Transcript Sequence  (SEQ ID NO:149):
ATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAACCTCTGCTCACGCGTGTTCTTCTGGTGGCTCAATCCCTTGTTTAAAATTG
GCCATAAACGGAGATTAGAGGAAGATGATATGTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGA
AGTTTTAAGAGCTGAGAATGACGCACAGAAGCCTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTA
ATTGAGGAAAGTGCCAAAGTAATCCAGCCCATATTTTTGGGAAAAATTATTAATTATTTTGAAAATTATGATCCCATGGATTCTGTGGCTTTGAACACAG
CGTACGCCTATGCCACGGTGCTGACTTTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACG
AGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAAT
GATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAG
GAATATCGTGCCTTGCTGGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAAC
TTTCACGGATGCCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACC
AATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTG
TGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCT
CTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGT
CAGCTGCCGTCAGATGGTAAAAAGATGGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTA
CTGTCAGACCTGGCGAATTGTTAGCTGTGGTCGGCCCCGTGGGAGCAGGGAAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGG
GCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAA
AAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAACCA
CGCTGAGTGGAGGGCAGAAAGCACGGGTAAACCTTGCAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGC
GGAAGTTAGCAGACACTTGTTCGAACTGTGTATTTGTCAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCA
AGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTATAGATTTTGGCTCCCTTTTAAAGAAGG
ATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGTCTTCGGTTTGGTCTCAACAATCTTCTAGACC
CTCCTTGAAAGATGGTGCTCTGGAGAGCCAAGATACAGAGAATGTCCCAGTTACACTATCAGAGGAGAACCGTTCTGAAGGAAAAGTTGGTTTTCAGGCC
TATAAGAATTACTTCAGAGCTGGTGCTCACTGGATTGTCTTCATTTTCCTTATTCTCCTAAACACTGCAGCTCAGGTTGCCTATGTGCTTCAAGATTGGT
GGCTTTCATACTGGGCAAACAAACAAAGTATGCTAAATGTCACTGTAAATGGAGGAGGAAATGTAACCGAGAAGCTAGATCTTAACTGGTACTTAGGAAT
TTATTCAGGTTTAACTGTAGCTACCGTTCTTTTTGGCATAGCAAGATCTCTATTGGTATTCTACGTCCTTGTTAACTCTTCACAAACTTTGCACAACAAA
ATGTTTGAGTCAATTCTGAAAGCTCCGGTATTATTCTTTGATAGAAATCCAATAGGAAGAATTTTAAATCGTTTCTCCAAAGACATTGGACACTTGGATG
ATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCTGTGGCCGTGATTCCTTGGATCGCAATACC
CTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGAGATGTGAAGCGCCTGGAATCTACAACTCGGAGTCCAGTG
TTTTCCCACTTGTCATCTTCTCTCCAGGGGCTCTGGACCATCCGGGCATACAAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTAC
ATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGGTTCGCCGTCCGTCTGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTC
CCTGATTCTGGCAAAAACTCTGGATGCCGGGCAGGTTGGTTTGGCACTGTCCTATGCCCTCACGCTCATGGGGATGTTTCAGTGGTGTGTTCGACAAAGT
GCTGAAGTTGAGAATATGATGATCTCAGTAGAAAGGGTCATTGAATACACAGACCTTGAAAAAGAAGCACCTTGGGAATATCAGAAACGCCCACCACCAG
CCTGGCCCCATGAAGGAGTGATAATCTTTGACAATGTGAACTTCATGTACAGTCCAGGTGGGCCTCTGGTACTGAAGCATCTGACAGCACTCATTAAATC
ACAAGAAAAGGTTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAAATTTGGATT
GATAAGATCTTGACAACTGAAATTGGACTTCACGATTTAAGGAAGAAGATGTCAATCATACCTCAGGAACCTGTTTTGTTCACTGGAACAATGAGGAAAA
ACCTGGATCCCTTTAATGAGCACACGGATGAGGAACTGTGGAATGCCTTACAAGAGGTACAACTTAAAGAAACCATTGAAGATCTTCCTGGTAAAATGGA
TACTGAATTAGCAGAATCAGGATCCAATTTTAGTGTTGGACAAAGACAACTGGTGTGCCTTGCCAGGGCAATTCTCAGGAAAAATCAGATATTGATTATT
GATGAAGCGACGGCAAATGTGGATCCAAGAACTGATGAGTTAATACAAAAAAAAATCCGGGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACA
GATTGAACACCATTATTGACAGCGACAAGATAATGGTTTTAGATTCAGGAAGACTGAAAGAATATGATGAGCCGTATGTTTTGCTGCAAAATAAAGAGAG
CCTATTTTACAAGATGGTGCAACAACTGGGCAAGGCAGAAGCCGCTGCCCTCACTGAAACAGCAAAACAGGTATACTTCAAAAGAAATTATCCACATATT
GGTCACACTGACCACATGGTTACAAACACTTCCAATGGACAGCCCTCGACCTTAACTATTTTCGAGACAGCACTGTGAATCCAACCAAAATGTCAAGTCC
GTTCCGAAGGCATTTTCCACTAGTTTTTGGACTATGTAAACCACATTGTACTTTTTTTTACTTTGGCAACAAATATTTATACATACAAGATGCTAGTTCA
TTTGAATATTTCTCCCAACTTATCCAAGGATCTCCAGCTCTAACAAAATGGTTTATTTTTATTTAAATGTCAATAGTTGTTTTTTAAAATCCAAATCAGA
GGTGCAGGCCACCAGTTAAATGCCGTCTATCAGGTTTTGTGCCTTAAGAGACTACAGAGTCAAAGCTCATTTTTAAAGGAGTAGGACAAAGTTGTCACAG
GTTTTTGTTGTTGTTTTTATTGCCCCCAAAATTACATGTTAATTTCCATTTATATCAGGGATTCTATTTACTTGAAGACTGTGAAGTTGCCATTTTGTCT
CATTGTTTTCTTTGACATAACTAGGATCCATTATTTCCCCTGAAGGCTTCTTGTTAGAAAATAGTACAGTTACAACCAATAGGAACAACAAAAAGAAAAA
GTTTGTGACATTGTAGTAGGGAGTGTGTACCCCTTACTCCCCATCAAAAAAAAAAATGGATACATGGTTAAAGGATAGAAGGGCAATATTTTATCATATG
TTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAATGGAAGCCCTTAAAGGTGCTTTGATACTGAAGGACACAAATGTGACCGTCCATCCTCCTT
TAGAGTTGCATGACTTGGACACGGTAACTGTTGCAGTTTTAGACTCAGCATTGTGACACTTCCCAAGAAGGCCAAACCTCTAACCGACATTCCTGAAATA
CGTGGCATTATTCTTTTTTGGATTTCTCATTTATGGAAGGCTAACCCTCTGTTGACTGTAAGCCTTTTGGTTTGGGCTGTATTGAAATCCTTTCTAAATT
GCATGAATAGGCTCTGCTAACGTGATGAGACAAACTGAAAATTATTGCAAGCATTGACTATAATTATGCAGTACGTTCTCAGGATGCATCCAGGGGTTCA
TTTTCATGAGCCTGTCCAGGTTAGTTTACTCCTGACCACTAATAGCATTGTCATTTGGGCTTTCTGTTGAATGAATCAACAAACCACAATACTTCCTGGG
ACCTTTTGTACTTTATTTGAACTATGAGTCTTTAATTTTTCCTGATGATGGTGGCTGTAATATGTTGAGTTCAGTTTACTAAAGGTTTTACTATTATGGT
TTGAAGTGGAGTCTCATGACCTCTCAGAATAAGGTGTCACCTCCCTGAAATTGCATATATGTATATAGACATGCACACGTGTGCATTTGTTTGTATACAT
ATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAACCGATGTTTTATTGAGTGAAGCCTTAAAAAGCACACACCACACACAGCTAAC
TGCCAAAATACATTGACCGTAGTAGCTGTTCAACTCCTAGTACTTAGAAATACACGTATGGTTAATGTTCAGTCCAACAAACCACACACAGTAAATGTTT
ATTAATAGTCATGGTTCGTATTTTAGGTGACTGAAATTGCAACAGTGATCATAATGAGGTTTGTTAAAACGATAGCTATATTCAAAATGTCTATATGTTT
ATTTGGACTTTTGAGGTTAAAGACAGTCATATAAACGTCCTGTTTCTGTTTTAATGTTATCATAGAATTTTTTAATGAAACTAAATTCAATTGAAATAAA
TGATAGTTTTCATCTC


Protein Sequence     (SEQ ID NO:410):
MLPVYQEVKPNPLQDANLCSRVFFWWLNPLFKIGHKRRLEEDDMYSVLPEDRSQHLGEELQGFWDKEVLRAENDAQKPSLTRAIIKCYWKSYLVLGIFTL
IEESAKVIQPIFLGKIINYFENYDPMDSVALNTAYAYATVLTFCTLILAILHHLYFYHVQCAGMRLRVAMCHMIYRKALRLSNMAMGKTTTGQIVNLLSN
DVNKFDQVTVFLHFLWAGPLQAIAVTALLWMEIGISCLAGMAVLIILLPLQSCFGKLFSSLRSKTATFTDARIRTMNEVITGIRIIKMYAWEKSFSNLIT
NLRKKEISKILRSSCLRGMNLASFFSASKIIVFVTFTTYVLLGSVITASRVFVAVTLYGAVRLTVTLFFPSAIERVSEAIVSIRRIQTFLLLDEISQRNR
QLPSDGKKMVHVQDFTAFWDKASETPTLQGLSFTVRPGELLAVVGPVGAGKSSLLSAVLGELAPSHGLVSVHGRIAYVSQQPWVFSGTLRSNILFGKKYE
KERYEKVIKACALKKDLQLLEDGDLTVIGDRGTTLSGGQKARVNLARAVYQDADIYLLDDPLSAVDAEVSRHLFELCICQILHEKITILVTHQLQYLKAA
SQILILKDGKMVQKGTYTEFLKSGIDFGSLLKKDNEESEQPPVPGTPTLRNRTFSESSVWSQQSSRPSLKDGALESQDTENVPVTLSEENRSEGKVGFQA
YKNYFRAGAHWIVFIFLILLNTAAQVAYVLQDWWLSYWANKQSMLNVTVNGGGNVTEKLDLNWYLGIYSGLTVATVLFGIARSLLVFYVLVNSSQTLHNK
MFESILKAPVLFFDRNPIGRILNRFSKDIGHLDDLLPLTFLDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLESTTRSPV
FSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFVIIVAFGSLILAKTLDAGQVGLALSYALTLMGMFQWCVRQS
AEVENMMISVERVIEYTDLEKEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGIVGRTGAGKSSLISALFRLSEPEGKIWI
DKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNEHTDEELWNALQEVQLKETIEDLPGKMDTELAESGSNFSVGQRQLVCLARAILRKNQILII
DEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLKEYDEPYVLLQNKESLFYKMVQQLGKAEAAALTETAKQVYFKRNYPHI
GHTDHMVTNTSNGQPSTLTIFETAL*



SNP Information


Context              (SEQ ID NO:3041):
CCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAAATTTGGATTGATAAGATCTTGACAACTGAAATTGGACTTCACGATTTAAGGAAGAA
R
ATGTCAATCATACCTCAGGAACCTGTTTTGTTCACTGGAACAATGAGGAAAAACCTGGATCCCTTTAATGAGCACACGGATGAGGAACTGTGGAATGCCT
Celera SNP ID:                hCV1901918
SNP Position Transcript:      3348
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,118|A,434) ; no_pop(G,5|A,2) ; no_pop(G,-|A,-) ; no_pop(G,158
|A,558)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1116,(K,AAG) (K,AAA)



Context              (SEQ ID NO:3042):
GCCGCTGCCCTCACTGAAACAGCAAAACAGGTATACTTCAAAAGAAATTATCCACATATTGGTCACACTGACCACATGGTTACAAACACTTCCAATGGAC
R
GCCCTCGACCTTAACTATTTTCGAGACAGCACTGTGAATCCAACCAAAATGTCAAGTCCGTTCCGAAGGCATTTTCCACTAGTTTTTGGACTATGTAAAC
Celera SNP ID:                hCV31356289
SNP Position Transcript:      3941
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 1314,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3043):
CTTGCCAGGGCAATTCTCAGGAAAAATCAGATATTGATTATTGATGAAGCGACGGCAAATGTGGATCCAAGAACTGATGAGTTAATACAAAAAAAAATCC
R
GGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACAGATTGAACACCATTATTGACAGCGACAAGATAATGGTTTTAGATTCAGGAAGACTGAAA
Celera SNP ID:                hCV31356305
SNP Position Transcript:      3659
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 1220,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3044):
GGACTTCACGATTTAAGGAAGAAGATGTCAATCATACCTCAGGAACCTGTTTTGTTCACTGGAACAATGAGGAAAAACCTGGATCCCTTTAATGAGCACA
Y
GGATGAGGAACTGTGGAATGCCTTACAAGAGGTACAACTTAAAGAAACCATTGAAGATCTTCCTGGTAAAATGGATACTGAATTAGCAGAATCAGGATCC
Celera SNP ID:                hCV31356316
SNP Position Transcript:      3425
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 1142,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3045):
TGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGGTTCGCCGTCCGTCTGGATGCCATCT
S
TGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGGCAGGTTGGTTTGGCACTGTCCTATGCCCTCACGCTC
Celera SNP ID:                hCV31356339
SNP Position Transcript:      2867
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,1|G,551)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 956,(C,TGT) (S,TCT)



Context              (SEQ ID NO:3046):
CATACAAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGGTTCGC
Y
GTCCGTCTGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGGCAGGTTGGTTTGGCAC
Celera SNP ID:                hCV31356340
SNP Position Transcript:      2847
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,549|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 949,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3047):
TAGCAGAATCAGGATCCAATTTTAGTGTTGGACAAAGACAACTGGTGTGCCTTGCCAGGGCAATTCTCAGGAAAAATCAGATATTGATTATTGATGAAGC
R
ACGGCAAATGTGGATCCAAGAACTGATGAGTTAATACAAAAAAAAATCCGGGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACAGATTGAACA
Celera SNP ID:                hCV25472789
SNP Position Transcript:      3609
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,3)  total(G,71|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1203,(A,GCG) (A,GCA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,1036|A,68)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1203,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3048):
CCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGTCAGCTGC
Y
GTCAGATGGTAAAAAGATGGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGA
Celera SNP ID:                hCV25611309
SNP Position Transcript:      1208
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,37)  total(T,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 403,(P,CCG) (L,CTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,1102|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 403,(P,CCG) (L,CTG)



Context              (SEQ ID NO:3049):
TGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGGCAGGTTGGTTTGGCACTGTCCTA
Y
GCCCTCACGCTCATGGGGATGTTTCAGTGGTGTGTTCGACAAAGTGCTGAAGTTGAGAATATGATGATCTCAGTAGAAAGGGTCATTGAATACACAGACC
Celera SNP ID:                hCV25611330
SNP Position Transcript:      2955
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,37|C,1)  total(T,77|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 985,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:3050):
CAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGCGGAAGTTAGCAGACACTTGTTCGAACTGTGTATTTG
Y
CAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGC
Celera SNP ID:                hCV31356405
SNP Position Transcript:      1737
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 579,(C,TGT) (C,TGC)



Context              (SEQ ID NO:3051):
TCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGA
Y
GCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTT
Celera SNP ID:                hCV31356437
SNP Position Transcript:      1067
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 356,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3052):
TCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCT
R
ATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATG
Celera SNP ID:                hCV31356443
SNP Position Transcript:      732
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 244,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3053):
ACTGCACCGTGCTAACCATTGCACACAGATTGAACACCATTATTGACAGCGACAAGATAATGGTTTTAGATTCAGGAAGACTGAAAGAATATGATGAGCC
R
TATGTTTTGCTGCAAAATAAAGAGAGCCTATTTTACAAGATGGTGCAACAACTGGGCAAGGCAGAAGCCGCTGCCCTCACTGAAACAGCAAAACAGGTAT
Celera SNP ID:                hCV25611322
SNP Position Transcript:      3774
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1258,(P,CCG) (P,CCA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,1092|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1258,(P,CCG) (P,CCA)



Context              (SEQ ID NO:3054):
TCACAAACTTTGCACAACAAAATGTTTGAGTCAATTCTGAAAGCTCCGGTATTATTCTTTGATAGAAATCCAATAGGAAGAATTTTAAATCGTTTCTCCA
R
AGACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCTGTGGCCGTG
Celera SNP ID:                hCV25611279
SNP Position Transcript:      2480
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 827,(K,AAA) (R,AGA)



Context              (SEQ ID NO:3055):
GGGCATACAAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGGTT
Y
GCCGTCCGTCTGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGGCAGGTTGGTTTGG
Celera SNP ID:                hCV7466330
SNP Position Transcript:      2844
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,35)  african american(T,2|C,34)  total(T,5|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 948,(F,TTC) (F,TTT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,3240|T,864) ; no_pop(C,-|T,-) ; no_pop(C,632|T,56)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 948,(F,TTC) (F,TTT)



Context              (SEQ ID NO:3056):
ATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGC
Y
GGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGA
Celera SNP ID:                hCV31356444
SNP Position Transcript:      717
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 239,(A,GCT) (A,GCC)



Context              (SEQ ID NO:3057):
CTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATG
K
GGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACT
Celera SNP ID:                hCV31356445
SNP Position Transcript:      559
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,522|T,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 187,(G,GGG) (W,TGG)



Context              (SEQ ID NO:3058):
AAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAG
R
AATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCG
Celera SNP ID:                hCV25611298
SNP Position Transcript:      1492
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 498,(K,AAA) (E,GAA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,1096|G,8)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 498,(K,AAA) (E,GAA)



Context              (SEQ ID NO:3059):
AGCTCAGGTTGCCTATGTGCTTCAAGATTGGTGGCTTTCATACTGGGCAAACAAACAAAGTATGCTAAATGTCACTGTAAATGGAGGAGGAAATGTAACC
R
AGAAGCTAGATCTTAACTGGTACTTAGGAATTTATTCAGGTTTAACTGTAGCTACCGTTCTTTTTGGCATAGCAAGATCTCTATTGGTATTCTACGTCCT
Celera SNP ID:                hCV27478235
SNP Position Transcript:      2269
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1838|A,216) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 757,(E,GAG) (K,AAG)



Context              (SEQ ID NO:3060):
CAAAGACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCTGTGGCC
R
TGATTCCTTGGATCGCAATACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGAGATGTGAAGCGCCTGGA
Celera SNP ID:                hCV31356349
SNP Position Transcript:      2578
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,550|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 860,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3061):
CCAAAGACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCTGTGGC
Y
GTGATTCCTTGGATCGCAATACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGAGATGTGAAGCGCCTGG
Celera SNP ID:                hCV31356350
SNP Position Transcript:      2577
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 859,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3062):
ATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAA
R
AGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAG
Celera SNP ID:                hCV31356439
SNP Position Transcript:      877
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 293,(K,AAG) (E,GAG)



Context              (SEQ ID NO:3063):
ATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAAC
M
TCTGCTCACGCGTGTTCTTCTGGTGGCTCAATCCCTTGTTTAAAATTGGCCATAAACGGAGATTAGAGGAAGATGATATGTATTCAGTGCTGCCAGAAGA
Celera SNP ID:                hCV31356532
SNP Position Transcript:      52
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,535|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 18,(L,CTC) (I,ATC)



Context              (SEQ ID NO:3064):
ACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATA
Y
GAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAA
Celera SNP ID:                hCV7466669
SNP Position Transcript:      1497
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,7|C,31)  total(T,7|C,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 499,(Y,TAC) (Y,TAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1212|T,76) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 499,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3065):
CTGGATTGTCTTCATTTTCCTTATTCTCCTAAACACTGCAGCTCAGGTTGCCTATGTGCTTCAAGATTGGTGGCTTTCATACTGGGCAAACAAACAAAGT
R
TGCTAAATGTCACTGTAAATGGAGGAGGAAATGTAACCGAGAAGCTAGATCTTAACTGGTACTTAGGAATTTATTCAGGTTTAACTGTAGCTACCGTTCT
Celera SNP ID:                hCV25611283
SNP Position Transcript:      2230
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,2|A,36)  total(G,2|A,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 744,(M,ATG) (V,GTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,1088|G,16)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 744,(M,ATG) (V,GTG)



Context              (SEQ ID NO:3066):
CCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAA
K
AAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCA
Celera SNP ID:                hCV16181780
SNP Position Transcript:      912
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,174|G,930) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 304,(K,AAG) (N,AAT)



Context              (SEQ ID NO:3067):
CTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGACCTGGCGAATTGTTAGCTGTGGTCGGCCCCGTGGGAGCAGG
R
AAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGG
Celera SNP ID:                hCV29454129
SNP Position Transcript:      1350
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,7|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 450,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3068):
TGAAGGAGTGATAATCTTTGACAATGTGAACTTCATGTACAGTCCAGGTGGGCCTCTGGTACTGAAGCATCTGACAGCACTCATTAAATCACAAGAAAAG
R
TTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAAATTTGGATTGATAAGATCTT
Celera SNP ID:                hCV31356330
SNP Position Transcript:      3211
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 1071,(V,GTT) (I,ATT)



Context              (SEQ ID NO:3069):
TTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGAGATGTGAAGCGCCTGGAATCTACAACTCGGAGTCCAGTGTTTTCCCACTT
R
TCATCTTCTCTCCAGGGGCTCTGGACCATCCGGGCATACAAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTT
Celera SNP ID:                hCV7466337
SNP Position Transcript:      2712
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,3)  african american(G,34|A,2)  total(G,71|A,5)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 904,(L,TTG) (L,TTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,3206|A,882) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 904,(L,TTG) (L,TTA)



Context              (SEQ ID NO:3070):
AATTTTAAATCGTTTCTCCAAAGACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTG
K
TCTCTGTGGCTGTGGCCGTGATTCCTTGGATCGCAATACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAG
Celera SNP ID:                hCV31356351
SNP Position Transcript:      2560
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 854,(V,GTC) (F,TTC)



Context              (SEQ ID NO:3071):
TAACCGAGAAGCTAGATCTTAACTGGTACTTAGGAATTTATTCAGGTTTAACTGTAGCTACCGTTCTTTTTGGCATAGCAAGATCTCTATTGGTATTCTA
Y
GTCCTTGTTAACTCTTCACAAACTTTGCACAACAAAATGTTTGAGTCAATTCTGAAAGCTCCGGTATTATTCTTTGATAGAAATCCAATAGGAAGAATTT
Celera SNP ID:                hCV31356392
SNP Position Transcript:      2364
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 788,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3072):
CCTCCTTGAAAGATGGTGCTCTGGAGAGCCAAGATACAGAGAATGTCCCAGTTACACTATCAGAGGAGAACCGTTCTGAAGGAAAAGTTGGTTTTCAGGC
Y
TATAAGAATTACTTCAGAGCTGGTGCTCACTGGATTGTCTTCATTTTCCTTATTCTCCTAAACACTGCAGCTCAGGTTGCCTATGTGCTTCAAGATTGGT
Celera SNP ID:                hCV31356395
SNP Position Transcript:      2100
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,550|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 700,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3073):
ATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGTCTTCGGTTTGGTCTCAACAATCTTCTAGACC
Y
TCCTTGAAAGATGGTGCTCTGGAGAGCCAAGATACAGAGAATGTCCCAGTTACACTATCAGAGGAGAACCGTTCTGAAGGAAAAGTTGGTTTTCAGGCCT
Celera SNP ID:                hCV31356398
SNP Position Transcript:      2001
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,550|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 667,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3074):
CACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTC
R
GGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGT
Celera SNP ID:                hCV31356420
SNP Position Transcript:      1458
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 486,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3075):
GTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGAAGTTTTAAGAGCTGAGAATGACGCACAGAAG
S
CTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTAATTGAGGAAAGTGCCAAAGTAATCCAGCCCAT
Celera SNP ID:                hCV31356485
SNP Position Transcript:      232
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,1|C,551)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 78,(P,CCT) (A,GCT)



Context              (SEQ ID NO:3076):
GGTTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAAATTTGGATTGATAAGATC
Y
TGACAACTGAAATTGGACTTCACGATTTAAGGAAGAAGATGTCAATCATACCTCAGGAACCTGTTTTGTTCACTGGAACAATGAGGAAAAACCTGGATCC
Celera SNP ID:                hCV31356328
SNP Position Transcript:      3310
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,535|C,17)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1104,(L,TTG) (L,CTG)



Context              (SEQ ID NO:3077):
CAGGTGGGCCTCTGGTACTGAAGCATCTGACAGCACTCATTAAATCACAAGAAAAGGTTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCAT
M
TCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAAATTTGGATTGATAAGATCTTGACAACTGAAATTGGACTTCACGATTTAAGGAAGAAGATGTCAA
Celera SNP ID:                hCV31356329
SNP Position Transcript:      3255
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,549|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1085,(I,ATC) (I,ATA)



Context              (SEQ ID NO:3078):
CCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTC
R
TTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGC
Celera SNP ID:                hCV25473942
SNP Position Transcript:      969
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,13)  african american(G,28|A,10)  total(G,51|A,23)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 323,(S,TCA) (S,TCG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,686|A,418) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 323,(S,TCA) (S,TCG)



Context              (SEQ ID NO:3079):
GGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAG
R
GGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCG
Celera SNP ID:                hCV25473870
SNP Position Transcript:      951
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,15)  african american(G,15|A,23)  total(G,38|A,38)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 317,(R,AGA) (R,AGG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,574|A,530) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 317,(R,AGA) (R,AGG)



Context              (SEQ ID NO:3080):
TTCTACGTCCTTGTTAACTCTTCACAAACTTTGCACAACAAAATGTTTGAGTCAATTCTGAAAGCTCCGGTATTATTCTTTGATAGAAATCCAATAGGAA
K
AATTTTAAATCGTTTCTCCAAAGACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTG
Celera SNP ID:                hCV31356362
SNP Position Transcript:      2459
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 820,(R,AGA) (I,ATA)



Context              (SEQ ID NO:3081):
GATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGTCTTCGGTTTGGTCTCAACAATCTTCTAGAC
Y
CTCCTTGAAAGATGGTGCTCTGGAGAGCCAAGATACAGAGAATGTCCCAGTTACACTATCAGAGGAGAACCGTTCTGAAGGAAAAGTTGGTTTTCAGGCC
Celera SNP ID:                hCV31356399
SNP Position Transcript:      2000
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 667,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3082):
ATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTAT
R
GATTTTGGCTCCCTTTTAAAGAAGGATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGTCTTCGG
Celera SNP ID:                hCV31356400
SNP Position Transcript:      1875
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 625,(I,ATA) (M,ATG)



Context              (SEQ ID NO:3083):
AGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCA
R
AGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGC
Celera SNP ID:                hCV30316196
SNP Position Transcript:      950
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 317,(R,AGA) (K,AAA)



Context              (SEQ ID NO:3084):
CCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGAT
Y
GCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGT
Celera SNP ID:                hCV7466770
SNP Position Transcript:      669
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,7|C,27)  total(T,15|C,59)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 223,(I,ATT) (I,ATC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,798|C,3310) ; no_pop(T,8|C,6) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 223,(I,ATT) (I,ATC)



Context              (SEQ ID NO:3085):
ATCCAAGAACTGATGAGTTAATACAAAAAAAAATCCGGGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACAGATTGAACACCATTATTGACAG
Y
GACAAGATAATGGTTTTAGATTCAGGAAGACTGAAAGAATATGATGAGCCGTATGTTTTGCTGCAAAATAAAGAGAGCCTATTTTACAAGATGGTGCAAC
Celera SNP ID:                hCV31356304
SNP Position Transcript:      3723
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 1241,(S,AGC) (S,AGT)



Context              (SEQ ID NO:3086):
ACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGAGATGTGAAGCGCCTGGAATCTACAACTCGGAGTCCA
K
TGTTTTCCCACTTGTCATCTTCTCTCCAGGGGCTCTGGACCATCCGGGCATACAAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTT
Celera SNP ID:                hCV31356341
SNP Position Transcript:      2698
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,550|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 900,(V,GTG) (L,TTG)



Context              (SEQ ID NO:3087):
CTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGG
R
AACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTG
Celera SNP ID:                hCV31356419
SNP Position Transcript:      1460
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 487,(G,GGA) (E,GAA)



Context              (SEQ ID NO:3088):
GAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGT
R
ATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGG
Celera SNP ID:                hCV31356438
SNP Position Transcript:      1035
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,550|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:410, 345,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3089):
CTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACA
Y
GGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCA
Celera SNP ID:                hCV31356446
SNP Position Transcript:      551
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,550|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 184,(M,ATG) (T,ACG)



Context              (SEQ ID NO:3090):
TGCCACGGTGCTGACTTTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATG
K
GCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAA
Celera SNP ID:                hCV30633961
SNP Position Transcript:      511
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:410, 171,(C,TGC) (G,GGC)



Context              (SEQ ID NO:3091):
ATGGTTACAAACACTTCCAATGGACAGCCCTCGACCTTAACTATTTTCGAGACAGCACTGTGAATCCAACCAAAATGTCAAGTCCGTTCCGAAGGCATTT
K
CCACTAGTTTTTGGACTATGTAAACCACATTGTACTTTTTTTTACTTTGGCAACAAATATTTATACATACAAGATGCTAGTTCATTTGAATATTTCTCCC
Celera SNP ID:                hCV8059522
SNP Position Transcript:      4016
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,335|G,217) ; no_pop(T,4|G,1) ; no_pop(T,-|G,-) ; no_pop(T,588
|G,450)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3092):
ATCCAAATCAGAGGTGCAGGCCACCAGTTAAATGCCGTCTATCAGGTTTTGTGCCTTAAGAGACTACAGAGTCAAAGCTCATTTTTAAAGGAGTAGGACA
R
AGTTGTCACAGGTTTTTGTTGTTGTTTTTATTGCCCCCAAAATTACATGTTAATTTCCATTTATATCAGGGATTCTATTTACTTGAAGACTGTGAAGTTG
Celera SNP ID:                hCV30633960
SNP Position Transcript:      4289
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3093):
AGAAAATAGTACAGTTACAACCAATAGGAACAACAAAAAGAAAAAGTTTGTGACATTGTAGTAGGGAGTGTGTACCCCTTACTCCCCATCAAAAAAAAAA
A
TGGATACATGGTTAAAGGATAGAAGGGCAATATTTTATCATATGTTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAATGGAAGCCCTTAAAGG
Celera SNP ID:                hCV26558234
SNP Position Transcript:      4556
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,3|-,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3094):
AGGATAGAAGGGCAATATTTTATCATATGTTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAATGGAAGCCCTTAAAGGTGCTTTGATACTGAA
R
GACACAAATGTGACCGTCCATCCTCCTTTAGAGTTGCATGACTTGGACACGGTAACTGTTGCAGTTTTAGACTCAGCATTGTGACACTTCCCAAGAAGGC
Celera SNP ID:                hCV29165754
SNP Position Transcript:      4672
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3095):
AATATTTTATCATATGTTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAATGGAAGCCCTTAAAGGTGCTTTGATACTGAAGGACACAAATGTG
R
CCGTCCATCCTCCTTTAGAGTTGCATGACTTGGACACGGTAACTGTTGCAGTTTTAGACTCAGCATTGTGACACTTCCCAAGAAGGCCAAACCTCTAACC
Celera SNP ID:                hCV8059530
SNP Position Transcript:      4685
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,4|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3096):
CACTTCCCAAGAAGGCCAAACCTCTAACCGACATTCCTGAAATACGTGGCATTATTCTTTTTTGGATTTCTCATTTATGGAAGGCTAACCCTCTGTTGAC
Y
GTAAGCCTTTTGGTTTGGGCTGTATTGAAATCCTTTCTAAATTGCATGAATAGGCTCTGCTAACGTGATGAGACAAACTGAAAATTATTGCAAGCATTGA
Celera SNP ID:                hCV7461507
SNP Position Transcript:      4857
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,837|T,751) ; no_pop(C,-|T,-) ; no_pop(C,166|T,142)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3097):
CTGTTGACTGTAAGCCTTTTGGTTTGGGCTGTATTGAAATCCTTTCTAAATTGCATGAATAGGCTCTGCTAACGTGATGAGACAAACTGAAAATTATTGC
R
AGCATTGACTATAATTATGCAGTACGTTCTCAGGATGCATCCAGGGGTTCATTTTCATGAGCCTGTCCAGGTTAGTTTACTCCTGACCACTAATAGCATT
Celera SNP ID:                hCV8059531
SNP Position Transcript:      4949
SNP Source:                   dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,4|G,3) ; no_pop(A,296|G,24)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3098):
ATATGTTGAGTTCAGTTTACTAAAGGTTTTACTATTATGGTTTGAAGTGGAGTCTCATGACCTCTCAGAATAAGGTGTCACCTCCCTGAAATTGCATATA
Y
GTATATAGACATGCACACGTGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAACCGATGTTTTAT
Celera SNP ID:                hCV30633959
SNP Position Transcript:      5260
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3099):
CTAAAGGTTTTACTATTATGGTTTGAAGTGGAGTCTCATGACCTCTCAGAATAAGGTGTCACCTCCCTGAAATTGCATATATGTATATAGACATGCACAC
R
TGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAACCGATGTTTTATTGAGTGAAGCCTTAAAAAG
Celera SNP ID:                hCV30622624
SNP Position Transcript:      5279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3100):
ATAAGGTGTCACCTCCCTGAAATTGCATATATGTATATAGACATGCACACGTGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTT
Y
GCTCATCAGCAGAGAGCAACCGATGTTTTATTGAGTGAAGCCTTAAAAAGCACACACCACACACAGCTAACTGCCAAAATACATTGACCGTAGTAGCTGT
Celera SNP ID:                hCV7461512
SNP Position Transcript:      5329
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3101):
ATTGCATATATGTATATAGACATGCACACGTGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAAC
M
GATGTTTTATTGAGTGAAGCCTTAAAAAGCACACACCACACACAGCTAACTGCCAAAATACATTGACCGTAGTAGCTGTTCAACTCCTAGTACTTAGAAA
Celera SNP ID:                hCV8059537
SNP Position Transcript:      5350
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,3|C,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3102):
ACTTAGAAATACACGTATGGTTAATGTTCAGTCCAACAAACCACACACAGTAAATGTTTATTAATAGTCATGGTTCGTATTTTAGGTGACTGAAATTGCA
W
CAGTGATCATAATGAGGTTTGTTAAAACGATAGCTATATTCAAAATGTCTATATGTTTATTTGGACTTTTGAGGTTAAAGACAGTCATATAAACGTCCTG
Celera SNP ID:                hCV29165753
SNP Position Transcript:      5542
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3103):
CAGTCCAACAAACCACACACAGTAAATGTTTATTAATAGTCATGGTTCGTATTTTAGGTGACTGAAATTGCAACAGTGATCATAATGAGGTTTGTTAAAA
Y
GATAGCTATATTCAAAATGTCTATATGTTTATTTGGACTTTTGAGGTTAAAGACAGTCATATAAACGTCCTGTTTCTGTTTTAATGTTATCATAGAATTT
Celera SNP ID:                hCV8059538
SNP Position Transcript:      5570
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,163|T,117) ; no_pop(C,5|T,1) ; no_pop(C,-|T,-) ; no_pop(C,64|
T,56)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Context              (SEQ ID NO:3104):
GATAGCTATATTCAAAATGTCTATATGTTTATTTGGACTTTTGAGGTTAAAGACAGTCATATAAACGTCCTGTTTCTGTTTTAATGTTATCATAGAATTT
Y
TTAATGAAACTAAATTCAATTGAAATAAATGATAGTTTTCATCTC
Celera SNP ID:                hCV30064130
SNP Position Transcript:      5671
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:410, None



Gene Number:                  60
Celera Gene:                  hCG2039665 - 209000071840823
Celera Transcript:            hCT2344426 - 209000071840861
Public Transcript Accession:
Celera Protein:               hCP1909722 - 209000071840796
Public Protein Accession:
Gene Symbol:                  ABCC4
Protein Name:                  ATP-binding cassette, sub-family C (CFTR/MRP), member 4
Celera Genomic Axis:          GA_x5YUV32W8MG(8767245..9060595)
Chromosome:                   13
OMIM NUMBER:                  605250
OMIM Information:


Transcript Sequence  (SEQ ID NO:150):
GCGCCCGCCCCGCCCGGCAAGATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAACCTCTGCTCACGCGTGTTCTTCTGGTCTC
CCCCGCCTCTTTCTTGGAAGGACACTTGCCATTGGATTTAGGACCCACTTGGATAATCCAGGATGATGTCTTCACTCCAACATCCTCAGTTTAATTCCAT
GTGCAAATACCCTTTTCCCAAATAACATTCAATTCTTTACCAGGAAAGGTGGCTCAATCCCTTGTTTAAAATTGGCCATAAACGGAGATTAGAGGAAGAT
GATATGTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGAAGTTTTAAGAGCTGAGAATGACGCAC
AGAAGCCTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTAATTGAGGAAAGTGCCAAAGTAATCCA
GCCCATATTTTTGGGAAAAATTATTAATTATTTTGAAAATTATGATCCCATGGATTCTGTGGCTTTGAACACAGCGTACGCCTATGCCACGGTGCTGACT
TTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATC
GGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGAC
AGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCA
GTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCA
TGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAA
GATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTC
GGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGG
TGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGTCAGCTGCCGTCAGATGGTAAAAAGAT
GGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGACCTGGCGAATTGTTAGCT
GTGGTCGGCCCCGTGGGAGCAGGGAAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTG
CCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAA
GGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAACCACGCTGAGTGGAGGGCAGAAAGCACGG
GTAAACCTTGCAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGCGGAAGTTAGCAGACACTTGTTCGAAC
TGTGTATTTGTCAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGG
TAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTATAGATTTTGGCTCCCTTTTAAAGAAGGATAATGAGGAAAGTGAACAACCTCCA
GTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGT


Protein Sequence     (SEQ ID NO:411):
MLPVYQEVKPNPLQDANLCSRVFFWSPPPLSWKDTCHWI*


SNP Information


Context              (SEQ ID NO:3105):
GCGCCCGCCCCGCCCGGCAAGATGCTGCCCGTGTACCAGGAGGTGAAGCCCAACCCGCTGCAGGACGCGAAC
M
TCTGCTCACGCGTGTTCTTCTGGTCTCCCCCGCCTCTTTCTTGGAAGGACACTTGCCATTGGATTTAGGACCCACTTGGATAATCCAGGATGATGTCTTC
Celera SNP ID:                hCV31356532
SNP Position Transcript:      73
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,535|A,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:411, 18,(L,CTC) (I,ATC)



Context              (SEQ ID NO:3106):
GTATTCAGTGCTGCCAGAAGACCGCTCACAGCACCTTGGAGAGGAGTTGCAAGGGTTCTGGGATAAAGAAGTTTTAAGAGCTGAGAATGACGCACAGAAG
S
CTTCTTTAACAAGAGCAATCATAAAGTGTTACTGGAAATCTTATTTAGTTTTGGGAATTTTTACGTTAATTGAGGAAAGTGCCAAAGTAATCCAGCCCAT
Celera SNP ID:                hCV31356485
SNP Position Transcript:      406
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,1|C,551)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3107):
TGCCACGGTGCTGACTTTTTGCACGCTCATTTTGGCTATACTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATG
K
GCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAA
Celera SNP ID:                hCV30633961
SNP Position Transcript:      685
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3108):
CTGCATCACTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACA
Y
GGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCA
Celera SNP ID:                hCV31356446
SNP Position Transcript:      725
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,550|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3109):
CTTATATTTTTATCACGTTCAGTGTGCTGGGATGAGGTTACGAGTAGCCATGTGCCATATGATTTATCGGAAGGCACTTCGTCTTAGTAACATGGCCATG
K
GGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACT
Celera SNP ID:                hCV31356445
SNP Position Transcript:      733
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,522|T,30)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3110):
CCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGAT
Y
GCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGT
Celera SNP ID:                hCV7466770
SNP Position Transcript:      843
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,7|C,27)  total(T,15|C,59)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,798|C,3310) ; no_pop(T,8|C,6) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3111):
ATCAGGTGACAGTGTTCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGC
Y
GGGATGGCAGTTCTAATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGA
Celera SNP ID:                hCV31356444
SNP Position Transcript:      891
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3112):
TCTTACACTTCCTGTGGGCAGGACCACTGCAGGCGATTGCAGTGACTGCCCTACTCTGGATGGAGATAGGAATATCGTGCCTTGCTGGGATGGCAGTTCT
R
ATCATTCTCCTGCCCTTGCAAAGCTGTTTTGGGAAGTTGTTCTCATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATG
Celera SNP ID:                hCV31356443
SNP Position Transcript:      906
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3113):
ATCACTGAGGAGTAAAACTGCAACTTTCACGGATGCCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAA
R
AGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAG
Celera SNP ID:                hCV31356439
SNP Position Transcript:      1051
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3114):
CCAGGATCAGGACCATGAATGAAGTTATAACTGGTATAAGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAA
K
AAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCA
Celera SNP ID:                hCV16181780
SNP Position Transcript:      1086
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,174|G,930) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3115):
AGGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCA
R
AGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGC
Celera SNP ID:                hCV30316196
SNP Position Transcript:      1124
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3116):
GGATAATAAAAATGTACGCCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAG
R
GGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCG
Celera SNP ID:                hCV25473870
SNP Position Transcript:      1125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,15)  african american(G,15|A,23)  total(G,38|A,38)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,574|A,530) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3117):
CCTGGGAAAAGTCATTTTCAAATCTTATTACCAATTTGAGAAAGAAGGAGATTTCCAAGATTCTGAGAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTC
R
TTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGC
Celera SNP ID:                hCV25473942
SNP Position Transcript:      1143
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,13)  african american(G,28|A,10)  total(G,51|A,23)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,686|A,418) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3118):
GAAGTTCCTGCCTCAGAGGGATGAATTTGGCTTCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGT
R
ATCACAGCCAGCCGCGTGTTCGTGGCAGTGACGCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGG
Celera SNP ID:                hCV31356438
SNP Position Transcript:      1209
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,550|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3119):
TCATTTTTCAGTGCAAGCAAAATCATCGTGTTTGTGACCTTCACCACCTACGTGCTCCTCGGCAGTGTGATCACAGCCAGCCGCGTGTTCGTGGCAGTGA
Y
GCTGTATGGGGCTGTGCGGCTGACGGTTACCCTCTTCTTCCCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTT
Celera SNP ID:                hCV31356437
SNP Position Transcript:      1241
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,551|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3120):
CCCTCAGCCATTGAGAGGGTGTCAGAGGCAATCGTCAGCATCCGAAGAATCCAGACCTTTTTGCTACTTGATGAGATATCACAGCGCAACCGTCAGCTGC
Y
GTCAGATGGTAAAAAGATGGTGCATGTGCAGGATTTTACTGCTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGA
Celera SNP ID:                hCV25611309
SNP Position Transcript:      1382
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,37)  total(T,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,1102|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3121):
CTTTTTGGGATAAGGCATCAGAGACCCCAACTCTACAAGGCCTTTCCTTTACTGTCAGACCTGGCGAATTGTTAGCTGTGGTCGGCCCCGTGGGAGCAGG
R
AAGTCATCACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGG
Celera SNP ID:                hCV29454129
SNP Position Transcript:      1524
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,7|A,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3122):
CACTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTC
R
GGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGT
Celera SNP ID:                hCV31356420
SNP Position Transcript:      1632
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3123):
CTGTTAAGTGCCGTGCTCGGGGAATTGGCCCCAAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGG
R
AACTCTGAGGAGTAATATTTTATTTGGGAAGAAATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTG
Celera SNP ID:                hCV31356419
SNP Position Transcript:      1634
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,551|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3124):
AAGTCACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAG
R
AATACGAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCG
Celera SNP ID:                hCV25611298
SNP Position Transcript:      1666
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,1096|G,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3125):
ACGGGCTGGTCAGCGTGCATGGAAGAATTGCCTATGTGTCTCAGCAGCCCTGGGTGTTCTCGGGAACTCTGAGGAGTAATATTTTATTTGGGAAGAAATA
Y
GAAAAGGAACGATATGAAAAAGTCATAAAGGCTTGTGCTCTGAAAAAGGATTTACAGCTGTTGGAGGATGGTGATCTGACTGTGATAGGAGATCGGGGAA
Celera SNP ID:                hCV7466669
SNP Position Transcript:      1671
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,7|C,31)  total(T,7|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1212|T,76) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3126):
CAAGAGCAGTGTATCAAGATGCTGACATCTATCTCCTGGACGATCCTCTCAGTGCAGTAGATGCGGAAGTTAGCAGACACTTGTTCGAACTGTGTATTTG
Y
CAAATTTTGCATGAGAAGATCACAATTTTAGTGACTCATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGC
Celera SNP ID:                hCV31356405
SNP Position Transcript:      1911
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,551|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Context              (SEQ ID NO:3127):
ATCAGTTGCAGTACCTCAAAGCTGCAAGTCAGATTCTGATATTGAAAGATGGTAAAATGGTGCAGAAGGGGACTTACACTGAGTTCCTAAAATCTGGTAT
R
GATTTTGGCTCCCTTTTAAAGAAGGATAATGAGGAAAGTGAACAACCTCCAGTTCCAGGAACTCCCACACTAAGGAATCGTACCTTCTCAGAGT
Celera SNP ID:                hCV31356400
SNP Position Transcript:      2049
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,551|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:411, None



Gene Number:                  61
Celera Gene:                  hCG32295 - 109000100674326
Celera Transcript:            hCT2272341 - 109000100674356
Public Transcript Accession:
Celera Protein:               hCP1806337 - 197000064938978
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VWMC(1794696..1848294)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:151):
GGAGTTTCACTTTGTAACTTTTAAGTGGTCGGAACACGCCCCGCGCTGCTGGGTCCCGCCAGACACGCCGCCGCCGCAGGAAAGTCTACAGTTTGGTACC
CCAGGACTCGCTGGTCAGGAAAGCCCTGCAGGACATGAGTGTTAGGCCCGACGCCTGGCCCTTGGCAGCTTGGGAGGTGGCTGGGGCTGCTTTTGCCTTT
GCCAGAGACAGCTCCAACTGAGGACCTCTCCAACGGGCCCATCCACAGTCCTTCCTTCCCCTAGTGTCTGGGAAGACAGGCGCGATGATGGACTCCCCGT
TCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAGCTGGGACTCGGGGACCGGCCCAACGACTCCTATTGCTACAACTCGGCCAAAAACAG
CACCGTGCTCCAGGGGGTCACCTTTGGTGGCATCCCCACTGTCCTGCTCATAGACGTCAGCTGCTTCCTGTTCTTAATCTTGGTGTTTTCTATTATAAGA
AGAAGATTCTGGGACTATGGCCGCATTGCCCTGGTGTCAGAAGCAGACAGCGAGTCCAGATTTCAGAGATTGTCATCGACTTCCTCCTCAGGTCAACAAG
ACTTTGAAAATGAGCTGGGATGCTGTCCCTGGCTGACTGCCATCTTCCGTCTGCATGATGACCAGATCCTGGAATGGTGTGGGGAGGACGCCATCCACTA
CCTGTCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTCATCCTGCCTGTCAACCTCTCAGGGGACTTGCTGGAC
AAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTTACCTCTTCC
TCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTACAAAGAGGAGAACCTGGTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGC
CAGGAAGGAGACTGTGGAGAGCCACTTCCGGGACGCGTATCCCACGTGTGAGGTGGTTGATGTGCAGCTGTGCTACAACGTGGCCAAACTGATCTACCTG
TGCAAGGAGAAAAAGAAGACTGAGAAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCATCAACCCCAAGCCCTGTGGCC
AGTTTTGCTGCTGTGAAGTGCTGGGCTGTGAGTGGGAAGACGCCATCTCTTACTACACACGGATGAAGGACAGGCTGCTGGAGAGGATCACAGAGGAAGA
ACGCCACGTCCAGGACCAGCCCCTGGGAATGGCCTTCGTCACCTTCCAGGAGAAGTCCATGGCCACCTACATCCTGAAAGATTTCAATGCCTGCAAGTGT
CAGAGCCTTCAGTGCAAAGGTGAGCCCCAGCCGTCCTCCCATAGCAGGGAGCTCTATACCTCCAAGTGGACAGTCACCTTTGCTGCTGACCCTGAGGACA
TCTGCTGGAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTACAGTGGCTGGGCATCAACTTCACCCTCTTCCTGGGGCTATTTTTCCTGACCACACC
CTCCATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAATAACCCGATCATCAGCCAGTTCTTCCCCACCCTCCTGCTC
TGGTCCTTCTCGGCCCTGCTCCCCTCCATTGTCTACTACTCTACACTGCTGGAGTCTCACTGGACCAAGTCGGGGGAAAACCAGATCATGATGACCAAAG
TCTACATATTCTTGATCTTCATGGTGCTGATCCTGCCCTCCCTGGGTCTCACCAGTCTAGATTTTTTCTTCCGGTGGCTCTTTGACAAAACTTCCTCGGA
GGCCTCCATCAGGTTGGAGTGCGTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTCGGCCTTCATCGGCAATGGCATGGAGCTG
CTGCGGCTGCCAGGTCTCATCCTCTATACCTTCCGCATGATCATGGCCAAGACGGCTGCTGACCGCAGGAATGTCAAGCAGAACCAGGCCTTCCAGTACG
AGTTTGGAGCCATGTATGCATGGATGCTGTGTGTCTTCACTGTCATCGTGGCCTACAGCATCACTTGTCCCATCATCGCGCCATTTGGCCTCATCTACAT
CCTGCTCAAGCACATGGTGGACCGGCACAACCTCTACTTCGTCTACCTCCCAGCCAAGCTGGAGAAGGGGATCCACTTTGCCGCTGTGAACCAGGCCTTG
GCAGCCCCCATCCTGTGCCTCTTCTGGCTCTACTTCTTTTCCTTCCTGCGCCTGGGTATGAAGGCCCCCGCCACTCTGTTCACCTTCCTGGTGCTGCTGC
TCACCATCCTGGTCTGCCTGGCTCACACCTGCTTTGGATGCTTCAAGCACCTCAGCCCTCTGAACTACAAAACAGAAGAGCCTGCAAGTGACAAAGGAAG
TGAGGCAGAGGCCCACATGCCCCCACCGTTCACACCCTACGTGCCTCGGATTCTGAACGGCTTGGCCTCGGAGAGGACAGCACTGTCTCCGCAGCAGCAG
CAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGACTATCCCTGGACAGTGCTTGGCGCAGAGCGCCACGGGCAGTGTGGCTGCTGCCCCCCAGG
AGGCCTGAGGCTGGGTCTCACTGCTCTGAAAAGACACAACCAGAATGGCCTGGGGCTCAGGCCCTTGGCTGAGTGGGAATGCGTTGGGACTGCCCAGCTG
AGCTATCAGGTGCCCATCTTTTCTGGTCCCAGCAGTGGTGAGGAGAGCACAGGCAGGCCTCGCCCCTCCCTTGCTCACCCAGTTTCCCCTCCGGCACAAG
CTTCCAGCTCTGCAGCTGGGGTGACATCCCCAGTGGTTTGTCGCCAAGACCATGTGGTGGACTTTTCGCCCCCCAAACTGATGAGTCCGGGAGAATATAT
GGAGAGAGAGATGTAACAAGGGGAAGGCCTCCTCCCTTCTGAGCACACACACAACCGATAACCAAAGAGATGCTGCAGTCCAGGTCTGAGGTCCCGCTGG
CATCCAGCTCCCTGCTCCATGGCCAGTCCCTCCCCAGCCCAGCAGTCCCTCCAGGCTACATCCAGGAAACTATGAAGAACTTTGAGATGGGCAAGACAAT
TCCTGGGTGTCTTCTGGACAAGATCTAGGGAGTTACCTAGCAGACCTT


Protein Sequence     (SEQ ID NO:412):
MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSCFLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTS
SSGQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCVILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFA
VIYLFLTVGFMRHHTQSIKYKEENLVRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLIN
PKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSLQCKGEPQPSSHSRELYTSKWTVTFA
ADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFNVTKPIHALNNPIISQFFPTLLLWSFSALLPSIVYYSTLLESHWTKSGENQ
IMMTKVYIFLIFMVLILPSLGLTSLDFFFRWLFDKTSSEASIRLECVFLPDQGAFFVNYVIASAFIGNGMELLRLPGLILYTFRMIMAKTAADRRNVKQN
QAFQYEFGAMYAWMLCVFTVIVAYSITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLEKGIHFAAVNQALAAPILCLFWLYFFSFLRLGMKAPATLFT
FLVLLLTILVCLAHTCFGCFKHLSPLNYKTEEPASDKGSEAEAHMPPPFTPYVPRILNGLASERTALSPQQQQQQTYGAIHNISGTIPGQCLAQSATGSV
AAAPQEA*



SNP Information


Context              (SEQ ID NO:3128):
CTGCTGACCCTGAGGACATCTGCTGGAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTACAGTGGCTGGGCATCAACTTCACCCTCTTCCTGGGGCT
R
TTTTTCCTGACCACACCCTCCATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAATAACCCGATCATCAGCCAGTTCT
Celera SNP ID:                hCV15968469
SNP Position Transcript:      1583
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,0|A,8)  total(G,2|A,42)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 433,(L,CTA) (L,CTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2510|G,490) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 433,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3129):
GGACAGCACTGTCTCCGCAGCAGCAGCAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGACTATCCCTGGACAGTGCTTGGCGCAGAGCGCCAC
R
GGCAGTGTGGCTGCTGCCCCCCAGGAGGCCTGAGGCTGGGTCTCACTGCTCTGAAAAGACACAACCAGAATGGCCTGGGGCTCAGGCCCTTGGCTGAGTG
Celera SNP ID:                hCV15968471
SNP Position Transcript:      2675
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,2)  african american(G,8|A,0)  total(G,44|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 797,(T,ACG) (T,ACA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2500|A,484) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 797,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3130):
CCATCCACTACCTGTCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTCATCCTGCCTGTCAACCTCTCAGGGGA
Y
TTGCTGGACAAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTT
Celera SNP ID:                hCV2989690
SNP Position Transcript:      791
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,6|C,24)  african american(T,2|C,4)  total(T,8|C,28)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 169,(D,GAC) (D,GAT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,1594|T,1366) ; no_pop(C,12|T,4) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 169,(D,GAC) (D,GAT)



Context              (SEQ ID NO:3131):
GCTTCAAGCACCTCAGCCCTCTGAACTACAAAACAGAAGAGCCTGCAAGTGACAAAGGAAGTGAGGCAGAGGCCCACATGCCCCCACCGTTCACACCCTA
Y
GTGCCTCGGATTCTGAACGGCTTGGCCTCGGAGAGGACAGCACTGTCTCCGCAGCAGCAGCAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGA
Celera SNP ID:                hCV25985714
SNP Position Transcript:      2540
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,33)  african american(T,0|C,8)  total(T,3|C,41)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 752,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3132):
GAGGTGGCTGGGGCTGCTTTTGCCTTTGCCAGAGACAGCTCCAACTGAGGACCTCTCCAACGGGCCCATCCACAGTCCTTCCTTCCCCTAGTGTCTGGGA
R
GACAGGCGCGATGATGGACTCCCCGTTCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAGCTGGGACTCGGGGACCGGCCCAACGACTCC
Celera SNP ID:                hCV15968458
SNP Position Transcript:      274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,3|A,23)  total(G,3|A,63)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:412, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2700|G,280) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:412, None



Context              (SEQ ID NO:3133):
CAAGACGGCTGCTGACCGCAGGAATGTCAAGCAGAACCAGGCCTTCCAGTACGAGTTTGGAGCCATGTATGCATGGATGCTGTGTGTCTTCACTGTCATC
R
TGGCCTACAGCATCACTTGTCCCATCATCGCGCCATTTGGCCTCATCTACATCCTGCTCAAGCACATGGTGGACCGGCACAACCTCTACTTCGTCTACCT
Celera SNP ID:                hCV2989680
SNP Position Transcript:      2148
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2368|A,240) ; no_pop(G,350|A,30) ; no_pop(G,1950|A,150) ; no_
pop(G,210|A,26)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:412, 622,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3134):
TGGTGCTGATCCTGCCCTCCCTGGGTCTCACCAGTCTAGATTTTTTCTTCCGGTGGCTCTTTGACAAAACTTCCTCGGAGGCCTCCATCAGGTTGGAGTG
Y
GTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTCGGCCTTCATCGGCAATGGCATGGAGCTGCTGCGGCTGCCAGGTCTCATCC
Celera SNP ID:                hCV25983437
SNP Position Transcript:      1922
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,32)  african american(T,1|C,5)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 546,(C,TGC) (C,TGT)



Context              (SEQ ID NO:3135):
CAAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTTACCTCTTC
Y
TCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTACAAAGAGGAGAACCTGGTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGC
Celera SNP ID:                hCV25983855
SNP Position Transcript:      900
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,32)  african american(T,1|C,7)  total(T,5|C,39)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:412, 206,(L,CTC) (F,TTC)



Context              (SEQ ID NO:3136):
GGTGGCTCTTTGACAAAACTTCCTCGGAGGCCTCCATCAGGTTGGAGTGCGTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTC
R
GCCTTCATCGGCAATGGCATGGAGCTGCTGCGGCTGCCAGGTCTCATCCTCTATACCTTCCGCATGATCATGGCCAAGACGGCTGCTGACCGCAGGAATG
Celera SNP ID:                hCV15968411
SNP Position Transcript:      1973
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,2)  african american(G,6|A,0)  total(G,36|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 563,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2140|A,404) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 563,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3137):
TCACAGGACTCCCCAGAGATGCCAGGAAGGAGACTGTGGAGAGCCACTTCCGGGACGCGTATCCCACGTGTGAGGTGGTTGATGTGCAGCTGTGCTACAA
Y
GTGGCCAAACTGATCTACCTGTGCAAGGAGAAAAAGAAGACTGAGAAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCA
Celera SNP ID:                hCV31711599
SNP Position Transcript:      1079
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:412, 265,(N,AAC) (N,AAT)



Context              (SEQ ID NO:3138):
GGAAGGCCTCCTCCCTTCTGAGCACACACACAACCGATAACCAAAGAGATGCTGCAGTCCAGGTCTGAGGTCCCGCTGGCATCCAGCTCCCTGCTCCATG
R
CCAGTCCCTCCCCAGCCCAGCAGTCCCTCCAGGCTACATCCAGGAAACTATGAAGAACTTTGAGATGGGCAAGACAATTCCTGGGTGTCTTCTGGACAAG
Celera SNP ID:                hCV29599015
SNP Position Transcript:      3122
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:412, None



Gene Number:                  61
Celera Gene:                  hCG32295 - 109000100674326
Celera Transcript:            hCT23483 - 109000100674327
Public Transcript Accession:
Celera Protein:               hCP46134 - 197000064938974
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VWMC(1794696..1848294)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:152):
GGAGTTTCACTTTGTAACTTTTAAGTGGTCGGAACACGCCCCGCGCTGCTGGGTCCCGCCAGACACGCCGCCGCCGCAGGAAAGTCTACAGTTTGGTACC
CCAGGACTCGCTGGTCAGGAAAGCCCTGCAGGACATGAGTGTTAGGCCCGACGCCTGGCCCTTGGCAGCTTGGGAGGTGGCTGGGGCTGCTTTTGCCTTT
GCCAGAGACAGCTCCAACTGAGGACCTCTCCAACGGGCCCATCCACAGTCCTTCCTTCCCCTAGTGTCTGGGAAGACAGGCGCGATGATGGACTCCCCGT
TCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAGCTGGGACTCGGGGACCGGCCCAACGACTCCTATTGCTACAACTCGGCCAAAAACAG
CACCGTGCTCCAGGGGGTCACCTTTGGTGGCATCCCCACTGTCCTGCTCATAGACGTCAGCTGCTTCCTGTTCTTAATCTTGGTGTTTTCTATTATAAGA
AGAAGATTCTGGGACTATGGCCGCATTGCCCTGGTGTCAGAAGCAGACAGCGAGTCCAGATTTCAGAGATTGTCATCGACTTCCTCCTCAGGTCAACAAG
ACTTTGAAAATGAGCTGGGATGCTGTCCCTGGCTGACTGCCATCTTCCGTCTGCATGATGACCAGATCCTGGAATGGTGTGGGGAGGACGCCATCCACTA
CCTGTCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTCATCCTGCCTGTCAACCTCTCAGGGGACTTGCTGGAC
AAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTTACCTCTTCC
TCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTACAAAGAGGAGAACCTGGTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGC
CAGGAAGGAGACTGTGGAGAGCCACTTCCGGGACGCGTATCCCACGTGTGAGGTGGTTGATGTGCAGCTGTGCTACAACGTGGCCAAACTGATCTACCTG
TGCAAGGAGAAAAAGAAGACTGAGAAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCATCAACCCCAAGCCCTGTGGCC
AGTTTTGCTGCTGTGAAGTGCTGGGCTGTGAGTGGGAAGACGCCATCTCTTACTACACACGGATGAAGGACAGGCTGCTGGAGAGGATCACAGAGGAAGA
ACGCCACGTCCAGGACCAGCCCCTGGGAATGGCCTTCGTCACCTTCCAGGAGAAGTCCATGGCCACCTACATCCTGAAAGATTTCAATGCCTGCAAGTGT
CAGAGCCTTCAGTGCAAAGGTGAGCCCCAGCCGTCCTCCCATAGCAGGGAGCTCTATACCTCCAAGTGGACAGTCACCTTTGCTGCTGACCCTGAGGACA
TCTGCTGGAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTACAGTGGCTGGGCATCAACTTCACCCTCTTCCTGGGGCTATTTTTCCTGACCACACC
CTCCATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAATAACCCGATCATCAGCCAGTTCTTCCCCACCCTCCTGCTC
TGGTCCTTCTCGGCCCTGCTCCCCTCCATTGTCTACTACTCTACACTGCTGGAGTCTCACTGGACCAAGTCGGGGGAAAACCAGATCATGATGACCAAAG
TCTACATATTCTTGATCTTCATGGTGCTGATCCTGCCCTCCCTGGGTCTCACCAGTCTAGATTTTTTCTTCCGGTGGCTCTTTGACAAAACTTCCTCGGA
GGCCTCCATCAGGTTGGAGTGCGTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTCGGCCTTCATCGGCAATGGCATGGAGCTG
CTGCGGCTGCCAGGTCTCATCCTCTATACCTTCCGCATGATCATGGCCAAGACGGCTGCTGACCGCAGGAATGTCAAGCAGAACCAGGCCTTCCAGTACG
AGTTTGGAGCCATGTATGCATGGATGCTGTGTGTCTTCACTGTCATCGTGGCCTACAGCATCACTTGTCCCATCATCGCGCCATTTGGCCTCATCTACAT
CCTGCTCAAGCACATGGTGGACCGGCACAACCTCTACTTCGTCTACCTCCCAGCCAAGCTGGAGAAGGGGATCCACTTTGCCGCTGTGAACCAGGCCTTG
GCAGCCCCCATCCTGTGCCTCTTCTGGCTCTACTTCTTTTCCTTCCTGCGCCTGGGTATGAAGGCCCCCGCCACTCTGTTCACCTTCCTGGTGCTGCTGC
TCACCATCCTGGTCTGCCTGGCTCACACCTGCTTTGGATGCTTCAAGCACCTCAGCCCTCTGAACTACAAAACAGAAGAGCCTGCAAGTGACAAAGGAAG
TGAGGCAGAGGCCCACATGCCCCCACCGTTCACACCCTACGTGCCTCGGATTCTGAACGGCTTGGCCTCGGAGAGGACAGCACTGTCTCCGCAGCAGCAG
CAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGACTATCCCTGGACAGTGCTTGGCGCAGAGCGCCACGGGCAGTGTGGCTGCTGCCCCCCAGG
AGGCCTGAGGCTGGGTCTCACTGCTCTGAAAAGACACAACCAGAATGGCCTGGGGCTCAGGCCCTTGGCTGAGTGGGAATGCGTTGGGACTGCCCAGCTG
AGCTATCAGGTGCCCATCTTTTCTGGTCCCAGCAGTGGTGAGGAGAGCACAGGCAGGCCTCGCCCCTCCCTTGCTCACCCAGTTTCCCCTCCGGCACAAG
CTTCCAGCTCTGCAGCTGGGGTGACATCCCCAGTGGTTTGTCGCCAAGACCATGTGGTGGACTTTTCGCCCCCCAAACTGATGAGTCCGGGAGAATATAT
GGAGAGAGAGATGTAACAAGGGGAAGGCCTCCTCCCTTCTGAGCACACACACAACCGATAACCAAAGAGATGCTGCAGTCCAGGTCTGAGGTCCCGCTGG
CATCCAGCTCCCTGCTCCATGGCCAGTCCCTCCCCAGCCCAGCAGTCCCTCCAGGCTACATCCAGGAGTAAGCTATGGGGAACAGGTTGGGAGGTGGCCA
GTGCTCCTGCCAGCTGTGCACACATCTCTGTATCCCGCTAGAGTTCTGTGTTTTTGTATCATGTTGTCAGGGACGCTAGCTGGGTCAGGGTTACCCCATA
GCAGGCAGGGACAAGGACCACTCATAATATGCCCATTGGACCACAGTTAAGATCCAGCCTCTCTCACCTCTTCAGGGCTGAGTGCATGAGTCTGCACCTC
CAGGCAGGCTCTGTGCAGTACTCACCCCCTCCGTCTGCTCCCTCCAAGGTGTGGGGGTGGGCAGTGCTCAGGGCCTCCTCGGAGCCAAAGGACAGCATGG
TCGGCACAGAGGAAGGGGTACCTGGGCTGGGTGCAGGGCCATCCCACTGCCCTTGAGCTGTGGCTCTGGCAGGAAGGAGGGGCAGCCCATCCCTCTTCTC
CCTCCTGGGGATTCTGGGGAATGGGATGCAACTTAAGACTTCTGCCTGAGAAGCCTCCTCCCTGCTGCCTCCAGGGGGCACCAAGGCACAAGCCTGTGCA
GTAGGGGCGGGATGGGGGTGTGGAAGAGCAGGTCCAGGCTCCTAGCACAACTGGCCTGGGGCCTTGGCACCTCTGTAGGCCCTGCCTGTGCCTGTCCGCT
GGCCTGGGGGGCCTGGGCTTATCTGGGCCTTCTCACTCAGGGACTCTCTTGACGCTGACTTGCCCCCGCAGTGGTGGCCAGTGCTGCCTCTGCTCCAAGC
TGCCCCTGCGCTGGGAGGGGTGGGGGCGGTGCCATTGGTCTGGTGCAGCATAGCCCTGGCCAGTGGCCTCATCCCCAGCAGGCCTCCCGTGCCTCTGCCA
GCAAGGAGGGGCCGGCCAGCTCTGCTTGCACAGGGGGCCCCATGTGGGGTCAGCGCACGCTCATGTCACTGAGTTCCAGCCGCTTTTAGAGTAAAGTCGT
TTATCATC


Protein Sequence     (SEQ ID NO:413):
MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSCFLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTS
SSGQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCVILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFA
VIYLFLTVGFMRHHTQSIKYKEENLVRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLIN
PKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSLQCKGEPQPSSHSRELYTSKWTVTFA
ADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFNVTKPIHALNNPIISQFFPTLLLWSFSALLPSIVYYSTLLESHWTKSGENQ
IMMTKVYIFLIFMVLILPSLGLTSLDFFFRWLFDKTSSEASIRLECVFLPDQGAFFVNYVIASAFIGNGMELLRLPGLILYTFRMIMAKTAADRRNVKQN
QAFQYEFGAMYAWMLCVFTVIVAYSITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLEKGIHFAAVNQALAAPILCLFWLYFFSFLRLGMKAPATLFT
FLVLLLTILVCLAHTCFGCFKHLSPLNYKTEEPASDKGSEAEAHMPPPFTPYVPRILNGLASERTALSPQQQQQQTYGAIHNISGTIPGQCLAQSATGSV
AAAPQEA*



SNP Information


Context              (SEQ ID NO:3139):
CTGCTGACCCTGAGGACATCTGCTGGAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTACAGTGGCTGGGCATCAACTTCACCCTCTTCCTGGGGCT
R
TTTTTCCTGACCACACCCTCCATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAATAACCCGATCATCAGCCAGTTCT
Celera SNP ID:                hCV15968469
SNP Position Transcript:      1583
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,0|A,8)  total(G,2|A,42)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 433,(L,CTA) (L,CTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2510|G,490) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 433,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3140):
GGACAGCACTGTCTCCGCAGCAGCAGCAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGACTATCCCTGGACAGTGCTTGGCGCAGAGCGCCAC
R
GGCAGTGTGGCTGCTGCCCCCCAGGAGGCCTGAGGCTGGGTCTCACTGCTCTGAAAAGACACAACCAGAATGGCCTGGGGCTCAGGCCCTTGGCTGAGTG
Celera SNP ID:                hCV15968471
SNP Position Transcript:      2675
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,2)  african american(G,8|A,0)  total(G,44|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 797,(T,ACG) (T,ACA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2500|A,484) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 797,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3141):
CCATCCACTACCTGTCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTCATCCTGCCTGTCAACCTCTCAGGGGA
Y
TTGCTGGACAAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTT
Celera SNP ID:                hCV2989690
SNP Position Transcript:      791
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,6|C,24)  african american(T,2|C,4)  total(T,8|C,28)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 169,(D,GAC) (D,GAT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,1594|T,1366) ; no_pop(C,12|T,4) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 169,(D,GAC) (D,GAT)



Context              (SEQ ID NO:3142):
GCTTCAAGCACCTCAGCCCTCTGAACTACAAAACAGAAGAGCCTGCAAGTGACAAAGGAAGTGAGGCAGAGGCCCACATGCCCCCACCGTTCACACCCTA
Y
GTGCCTCGGATTCTGAACGGCTTGGCCTCGGAGAGGACAGCACTGTCTCCGCAGCAGCAGCAGCAGCAGACCTATGGTGCCATCCACAACATCAGCGGGA
Celera SNP ID:                hCV25985714
SNP Position Transcript:      2540
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,33)  african american(T,0|C,8)  total(T,3|C,41)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 752,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3143):
GAGGTGGCTGGGGCTGCTTTTGCCTTTGCCAGAGACAGCTCCAACTGAGGACCTCTCCAACGGGCCCATCCACAGTCCTTCCTTCCCCTAGTGTCTGGGA
R
GACAGGCGCGATGATGGACTCCCCGTTCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAGCTGGGACTCGGGGACCGGCCCAACGACTCC
Celera SNP ID:                hCV15968458
SNP Position Transcript:      274
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,3|A,23)  total(G,3|A,63)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:413, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2700|G,280) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3144):
CAAGACGGCTGCTGACCGCAGGAATGTCAAGCAGAACCAGGCCTTCCAGTACGAGTTTGGAGCCATGTATGCATGGATGCTGTGTGTCTTCACTGTCATC
R
TGGCCTACAGCATCACTTGTCCCATCATCGCGCCATTTGGCCTCATCTACATCCTGCTCAAGCACATGGTGGACCGGCACAACCTCTACTTCGTCTACCT
Celera SNP ID:                hCV2989680
SNP Position Transcript:      2148
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2368|A,240) ; no_pop(G,350|A,30) ; no_pop(G,1950|A,150) ; no_
pop(G,210|A,26)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:413, 622,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3145):
TGGTGCTGATCCTGCCCTCCCTGGGTCTCACCAGTCTAGATTTTTTCTTCCGGTGGCTCTTTGACAAAACTTCCTCGGAGGCCTCCATCAGGTTGGAGTG
Y
GTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTCGGCCTTCATCGGCAATGGCATGGAGCTGCTGCGGCTGCCAGGTCTCATCC
Celera SNP ID:                hCV25983437
SNP Position Transcript:      1922
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,32)  african american(T,1|C,5)  total(T,1|C,37)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 546,(C,TGC) (C,TGT)



Context              (SEQ ID NO:3146):
CAAAGACCCGTATAGTTTTGGGAGGACAACAATAGCAAACCTACAGACTGACAATGACCTCCTTTGGCTGCACACCATCTTTGCTGTCATTTACCTCTTC
Y
TCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTACAAAGAGGAGAACCTGGTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGC
Celera SNP ID:                hCV25983855
SNP Position Transcript:      900
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,32)  african american(T,1|C,7)  total(T,5|C,39)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:413, 206,(L,CTC) (F,TTC)



Context              (SEQ ID NO:3147):
GGTGGCTCTTTGACAAAACTTCCTCGGAGGCCTCCATCAGGTTGGAGTGCGTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTCATCGCCTC
R
GCCTTCATCGGCAATGGCATGGAGCTGCTGCGGCTGCCAGGTCTCATCCTCTATACCTTCCGCATGATCATGGCCAAGACGGCTGCTGACCGCAGGAATG
Celera SNP ID:                hCV15968411
SNP Position Transcript:      1973
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,2)  african american(G,6|A,0)  total(G,36|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 563,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2140|A,404) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 563,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3148):
TCACAGGACTCCCCAGAGATGCCAGGAAGGAGACTGTGGAGAGCCACTTCCGGGACGCGTATCCCACGTGTGAGGTGGTTGATGTGCAGCTGTGCTACAA
Y
GTGGCCAAACTGATCTACCTGTGCAAGGAGAAAAAGAAGACTGAGAAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCA
Celera SNP ID:                hCV31711599
SNP Position Transcript:      1079
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:413, 265,(N,AAC) (N,AAT)



Context              (SEQ ID NO:3149):
GGAAGGCCTCCTCCCTTCTGAGCACACACACAACCGATAACCAAAGAGATGCTGCAGTCCAGGTCTGAGGTCCCGCTGGCATCCAGCTCCCTGCTCCATG
R
CCAGTCCCTCCCCAGCCCAGCAGTCCCTCCAGGCTACATCCAGGAGTAAGCTATGGGGAACAGGTTGGGAGGTGGCCAGTGCTCCTGCCAGCTGTGCACA
Celera SNP ID:                hCV29599015
SNP Position Transcript:      3122
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3150):
GCTGGGTCAGGGTTACCCCATAGCAGGCAGGGACAAGGACCACTCATAATATGCCCATTGGACCACAGTTAAGATCCAGCCTCTCTCACCTCTTCAGGGC
Y
GAGTGCATGAGTCTGCACCTCCAGGCAGGCTCTGTGCAGTACTCACCCCCTCCGTCTGCTCCCTCCAAGGTGTGGGGGTGGGCAGTGCTCAGGGCCTCCT
Celera SNP ID:                hCV16061118
SNP Position Transcript:      3379
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,176|T,922) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3151):
GGGGGTGGGCAGTGCTCAGGGCCTCCTCGGAGCCAAAGGACAGCATGGTCGGCACAGAGGAAGGGGTACCTGGGCTGGGTGCAGGGCCATCCCACTGCCC
K
TGAGCTGTGGCTCTGGCAGGAAGGAGGGGCAGCCCATCCCTCTTCTCCCTCCTGGGGATTCTGGGGAATGGGATGCAACTTAAGACTTCTGCCTGAGAAG
Celera SNP ID:                hCV7540410
SNP Position Transcript:      3553
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3152):
TCCTGGGGATTCTGGGGAATGGGATGCAACTTAAGACTTCTGCCTGAGAAGCCTCCTCCCTGCTGCCTCCAGGGGGCACCAAGGCACAAGCCTGTGCAGT
W
GGGGCGGGATGGGGGTGTGGAAGAGCAGGTCCAGGCTCCTAGCACAACTGGCCTGGGGCCTTGGCACCTCTGTAGGCCCTGCCTGTGCCTGTCCGCTGGC
Celera SNP ID:                hCV27471395
SNP Position Transcript:      3703
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,1226|T,244) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3153):
TCTGTAGGCCCTGCCTGTGCCTGTCCGCTGGCCTGGGGGGCCTGGGCTTATCTGGGCCTTCTCACTCAGGGACTCTCTTGACGCTGACTTGCCCCCGCAG
Y
GGTGGCCAGTGCTGCCTCTGCTCCAAGCTGCCCCTGCGCTGGGAGGGGTGGGGGCGGTGCCATTGGTCTGGTGCAGCATAGCCCTGGCCAGTGGCCTCAT
Celera SNP ID:                hCV2726014
SNP Position Transcript:      3872
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,1135|C,627) ; no_pop(T,10|C,1) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Context              (SEQ ID NO:3154):
GTAGGCCCTGCCTGTGCCTGTCCGCTGGCCTGGGGGGCCTGGGCTTATCTGGGCCTTCTCACTCAGGGACTCTCTTGACGCTGACTTGCCCCCGCAGTGG
Y
GGCCAGTGCTGCCTCTGCTCCAAGCTGCCCCTGCGCTGGGAGGGGTGGGGGCGGTGCCATTGGTCTGGTGCAGCATAGCCCTGGCCAGTGGCCTCATCCC
Celera SNP ID:                hCV32369314
SNP Position Transcript:      3875
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:413, None



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT2264547 - 67000129080472
Public Transcript Accession:
Celera Protein:               hCP1890803 - 197000069434067
Public Protein Accession:
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:153):
TGCACTCCAGCCTGGGTGACAGAACAAGACAAAAAAAAAAAAAGATACACTGGGTAATCACTAACCCATTATTCCTTGTGGCGTTACGAGGTCGGACCAA
TCCTTGATATCCTCAAATTTCACCTTAATGAGGCTGACACCTTTCAGCTTATCGACTGGCAACTCCTTTAGGTATTCTAGACGGCTAAAGAAGAACATTT
TTGGCACAGCTCCAGCCTTGAGAGCGTCTGAAATGAGCCTGCGACCTTCCAGCAGGATCTTCCCTTGTTTTTCCCGAAATGGCCTGGACTTTACTATTGT
CATTACACTGCTCCTCCTGTCCCCGGGATAAGCTTTATCGTAGCGAAGCCCAGACTCTTCCCAGGTGCTGGGAGCGCGGGATGCGGACTCCTCGAGCGGT
TGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCTCCGGAAGGAAACA
CCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGC
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
ACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGCGGCGGGAATCATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAAGTGGGAAACCGCTTCCAGAC
GGCGCGTTTCTATCGGGACGTCCTGGGGATGAAGGTTCTGCGGCATGAGGAATTTGAAGAAGGCTGCAAAGCTGCCTGTAATGGGCCTTATGATGGGAAA
TGGAGTAAAACAATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTTGGCAATGACT
TTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGC
CCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCAAAAGTCCTTG
AACTACTGGTGTAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGGTGAGCAATCTTG
GAGAAGAATAACC


Protein Sequence     (SEQ ID NO:414):
MAWTLLLSLHCSSCPRDKLYRSEAQTLPRCWERGMRTPRAVVSLVAPGHWPQMVPCGAASQERASVPPPLRKETPLSLGSAAAPGPSASRQGPKPGPPAA
TVARQTSRVSPAPPCSLRPGLRHESAPSAASDVTARGALRGLGCTVRVTAACGGNHGCSQSSALRIQSGKPLPDGAFLSGRPGDEGSAA*



SNP Information


Context              (SEQ ID NO:3155):
CCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGAC
Y
CGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGC
Celera SNP ID:                hDV70661800
SNP Position Transcript:      634
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:414, 119,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3156):
CTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCT
Y
CGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCAC
Celera SNP ID:                hCV16068189
SNP Position Transcript:      488
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:414, 70,(L,CTC) (L,CTT)



Context              (SEQ ID NO:3157):
ACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCG
M
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
Celera SNP ID:                hCV22272823
SNP Position Transcript:      600
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,5)  african american(C,10|A,4)  total(C,33|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:414, 108,(R,CGG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,7)  african american(C,25|A,9)  total(C,48|A,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:414, 108,(R,CGG) (R,AGG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:414, 108,(R,CGG) (R,AGG)



Context              (SEQ ID NO:3158):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      1067
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:414, None



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT2264548 - 67000129080428
Public Transcript Accession:  NM_016080
Celera Protein:               hCP1890799 - 197000069434063
Public Protein Accession:     NP_057164
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:154):
ATGCGGACTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCAC
CACCTCTCCGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAAC
GGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACG
GCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGCGGCGGGAATCATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAA
GTGGGAAACCGCTTCCAGACGGCGCGTTTCTATCGGGACGTCCTGGGGATGAAGGCTCTGACTACACCCGGATAACAGAAGACAGTTTCTCAAAGCCTTA
TGATGGGAAATGGAGTAAAACAATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTT
GGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTG
AAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCA
AAAGTCCTTGAACTACTGGTGTAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGTGT
AAGCTGGAGCTACAGGGCGTCAAGGGTGGGGTGGACCATGCAGCAGCTTTTGGAAGAATTGCCTTCTCTTGCCCCCAGAAAGAGTTGCCAGACTTAGAAG
ACTTGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGA
CGGACATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGAT
AAAAGTGACGAGTGGTTTGCCAAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTG
TGAGGCCTGACGTGGTGGAGTGCAGTGGGGCACCATCGTGGCTTTCTGCAGCCTTGACCTCTGGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAATG
GCTGGGCCCACAGCCACGTGCCACCACACCCAGCCAACGTTTTGATCTTTTGTAGCGACCGTCTCACTGCGTTGTTCAGGCTGCAAGCTGTTGTTTCAAA
CAGATGAAGTTGGAAAGTTCTTCAGCTTCTCCAGAGTT


Protein Sequence     (SEQ ID NO:415):
MRTPRAVVSLVAPGHWPQMVPCGAASQERASVPPPLRKETPLSLGSAAAPGPSASRQGPKPGPPAATVARQTSRVSPAPPCSLRPGLRHESAPSAASDVT
ARGALRGLGCTVRVTAACGGNHGCSQSSALRIQSGKPLPDGAFLSGRPGDEGSDYTRITEDSFSKPYDGKWSKTMVGFGPEDDHFVAELTYNYGVGDYKL
GNDFMGITLASSQAVSNARKLEWPLTEVAEGVFETEAPGGYKFYLQNRSLPQSDPVLKVTLAVSDLQKSLNYWCNLLGMKIYEKDEEKQRALLGYADNQC
KLELQGVKGGVDHAAAFGRIAFSCPQKELPDLEDLMKRENQKILTPLVSLDTPGKATVQVVILADPDGHEICFVGDEAFRELSKMDPEGSKLLDDAMAAD
KSDEWFAKHNKPKASG*



SNP Information


Context              (SEQ ID NO:3159):
CCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGAC
Y
CGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGC
Celera SNP ID:                hDV70661800
SNP Position Transcript:      254
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:415, 85,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3160):
CTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCT
Y
CGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCAC
Celera SNP ID:                hCV16068189
SNP Position Transcript:      108
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:415, 36,(L,CTC) (L,CTT)



Context              (SEQ ID NO:3161):
ACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCG
M
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
Celera SNP ID:                hCV22272823
SNP Position Transcript:      220
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,5)  african american(C,10|A,4)  total(C,33|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:415, 74,(R,CGG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,7)  african american(C,25|A,9)  total(C,48|A,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:415, 74,(R,CGG) (R,AGG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:415, 74,(R,CGG) (R,AGG)



Context              (SEQ ID NO:3162):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      677
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:415, 226,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3163):
TGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGG
W
CATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAA
Celera SNP ID:                hCV32356211
SNP Position Transcript:      1104
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:415, 368,(G,GGA) (G,GGT)



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT2264550 - 67000129080482
Public Transcript Accession:  NM_016080
Celera Protein:               hCP1890804 - 197000069434068
Public Protein Accession:     NP_057164
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:155):
TGCACTCCAGCCTGGGTGACAGAACAAGACAAAAAAAAAAAAAGATACACTGGGTAATCACTAACCCATTATTCCTTGTGGCGTTACGAGGTCGGACCAA
TCCTTGATATCCTCAAATTTCACCTTAATGAGGCTGACACCTTTCAGCTTATCGACTGGCAACTCCTTTAGGTATTCTAGACGGCTAAAGAAGAACATTT
TTGGCACAGCTCCAGCCTTGAGAGCGTCTGAAATGAGCCTGCGACCTTCCAGCAGGATCTTCCCTTGTTTTTCCCGAAATGGCCTGGACTTTACTATTGT
CATTACACTGCTCCTCCTGTCCCCGGGATAAGCTTTATCGTAGCGAAGCCCAGACTCTTCCCAGGTGCTGGGAGCGCGGGATGCGGACTCCTCGAGCGGT
TGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCTCCGGAAGGAAACA
CCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGC
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
ACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGCGGCGGGAATCATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAAGTGGGAAACCGCTTCCAGAC
GGCGCGTTTCTATCGGGACGTCCTGGGGATGAAGGTTCTGCGGCATGAGGAATTTGAAGAAGGCTGCAAAGCTGCCTGTAATGGGCCTTATGATGGGAAA
TGGAGTAAAACAATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTTGGCAATGACT
TTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGC
CCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCAAAAGTCCTTG
AACTACTGGTGTAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGTGTAAGCTGGAGC
TACAGGGCGTCAAGGGTGGGGTGGACCATGCAGCAGCTTTTGGAAGAATTGCCTTCTCTTGCCCCCAGAAAGAGTTGCCAGACTTAGAAGACTTGATGAA
AAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGGACATGAA
ATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAAGTGACG
AGTGGTTTGCCAAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTGTGAGGCCTGA
CGTGGTGGAGTGCAGTGGGGCACCATCGTGGCTTTCTGCAGCCTTGACCTCTGGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAATGGCTGGGCCCA
CAGCCACGTGCCACCACACCCAGCCAACGTTTTGATCTTTTGTAGCGACCGTCTCACTGCGTTGTTCAGGCTGCAAGCTGTTGTTTCAAACAGATGAAGT
TGGAAAGTTCTTCAGCTTCTCCAGAGTT


Protein Sequence     (SEQ ID NO:416):
MAARRALHFVFKVGNRFQTARFYRDVLGMKVLRHEEFEEGCKAACNGPYDGKWSKTMVGFGPEDDHFVAELTYNYGVGDYKLGNDFMGITLASSQAVSNA
RKLEWPLTEVAEGVFETEAPGGYKFYLQNRSLPQSDPVLKVTLAVSDLQKSLNYWCNLLGMKIYEKDEEKQRALLGYADNQCKLELQGVKGGVDHAAAFG
RIAFSCPQKELPDLEDLMKRENQKILTPLVSLDTPGKATVQVVILADPDGHEICFVGDEAFRELSKMDPEGSKLLDDAMAADKSDEWFAKHNKPKASG*



SNP Information


Context              (SEQ ID NO:3164):
CCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGAC
Y
CGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGC
Celera SNP ID:                hDV70661800
SNP Position Transcript:      634
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:416, None



Context              (SEQ ID NO:3165):
CTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCT
Y
CGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCAC
Celera SNP ID:                hCV16068189
SNP Position Transcript:      488
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:416, None



Context              (SEQ ID NO:3166):
ACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCG
M
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
Celera SNP ID:                hCV22272823
SNP Position Transcript:      600
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,5)  african american(C,10|A,4)  total(C,33|A,9)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:416, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,7)  african american(C,25|A,9)  total(C,48|A,16)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:416, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:416, None



Context              (SEQ ID NO:3167):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      1067
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:416, 108,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3168):
TGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGG
W
CATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAA
Celera SNP ID:                hCV32356211
SNP Position Transcript:      1494
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:416, 250,(G,GGA) (G,GGT)



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT2264551 - 67000129080442
Public Transcript Accession:  NM_016080
Celera Protein:               hCP1890801 - 197000069434065
Public Protein Accession:     NP_057164
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:156):
ATGAGGCTGACACCTTTCAGCTTATCGACTGGCAACTCCTTTAGGTATTCTAGACGGCTAAAGAAGAACATTTTTGGCACAGCTCCAGCCTTGAGAGCGT
CTGAAATGAGCCTGCGACCTTCCAGCAGGATCTTCCCTTGTTTTTCCCGAAATGGCCTGGACTTTACTATTGTCATTACACTGCTAACCACATCACCTCA
GCCTCCTGTCCCCGGGATAAGCTTTATCGTAGCGAAGCCCAGACTCTTCCCAGGTGCTGGGAGCGCGGGATGCGGACTCCTCGAGCGGTTGTTTCTCTCG
TTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCTCCGGAAGGAAACACCACTTTCACT
GGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCA
GCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTA
CGGTGCGCGTGACGGCTGCGTGCGGCGGGAATCATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAAGTGGGAAACCGCTTCCAGACGGCGCGTTTCT
ATCGGGACGTCCTGGGGATGAAGGTTCTGCGGCATGAGGAATTTGAAGAAGGCTGCAAAGCTGCCTGTAATGGGCCTTATGATGGGAAATGGAGTAAAAC
AATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATC
ACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGAT
ATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCAAAAGTCCTTGAACTACTGGTG
TAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGTGTAAGCTGGAGCTACAGGGCGTC
AAGGGTGGGGTGGACCATGCAGCAGCTTTTGGAAGAATTGCCTTCTCTTGCCCCCAGAAAGAGTTGCCAGACTTAGAAGACTTGATGAAAAGGGAGAACC
AGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGGACATGAAATTTGCTTTGT
CGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAAGTGACGAGTGGTTTGCC
AAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTGTGAGGCCTGACGTGGTGGAGT
GCAGTGGGGCACCATCGTGGCTTTCTGCAGCCTTGACCTCTGGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAATGGCTGGGCCCACAGCCACGTGC
CACCACACCCAGCCAACGTTTTGATCTTTTGTAGCGACCGTCTCACTGCGTTGTTCAGGCTGCAAGCTGTTGTTTCAAACAGATGAAGTTGGAAAGTTCT
TCAGCTTCTCCAGAGTT


Protein Sequence     (SEQ ID NO:417):
MAARRALHFVFKVGNRFQTARFYRDVLGMKVLRHEEFEEGCKAACNGPYDGKWSKTMVGFGPEDDHFVAELTYNYGVGDYKLGNDFMGITLASSQAVSNA
RKLEWPLTEVAEGVFETEAPGGYKFYLQNRSLPQSDPVLKVTLAVSDLQKSLNYWCNLLGMKIYEKDEEKQRALLGYADNQCKLELQGVKGGVDHAAAFG
RIAFSCPQKELPDLEDLMKRENQKILTPLVSLDTPGKATVQVVILADPDGHEICFVGDEAFRELSKMDPEGSKLLDDAMAADKSDEWFAKHNKPKASG*



SNP Information


Context              (SEQ ID NO:3169):
CCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGAC
Y
CGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGC
Celera SNP ID:                hDV70661800
SNP Position Transcript:      523
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:417, None



Context              (SEQ ID NO:3170):
CTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCT
Y
CGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCAC
Celera SNP ID:                hCV16068189
SNP Position Transcript:      377
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:417, None



Context              (SEQ ID NO:3171):
ACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCG
M
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
Celera SNP ID:                hCV22272823
SNP Position Transcript:      489
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,5)  african american(C,10|A,4)  total(C,33|A,9)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:417, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,7)  african american(C,25|A,9)  total(C,48|A,16)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:417, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:417, None



Context              (SEQ ID NO:3172):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      956
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:417, 108,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3173):
TGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGG
W
CATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAA
Celera SNP ID:                hCV32356211
SNP Position Transcript:      1383
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:417, 250,(G,GGA) (G,GGT)



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT2264553 - 67000129080457
Public Transcript Accession:  NM_016080
Celera Protein:               hCP1890802 - 197000069434066
Public Protein Accession:     NP_057164
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:157):
ATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAAGTGGGAAACCGCTTCCAGACGGCGCGTTTCTATCGGGACGTCCTGGGGATGAAGGTGGAGTCTT
GCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCTCTGACTACACCCGGATAACAGAAGACAGTTTCTCAAAGCCTTATGATGGGAA
ATGGAGTAAAACAATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTTGGCAATGAC
TTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTGAAACCGAGG
CCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCAAAAGTCCTT
GAACTACTGGTGTAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGTGTAAGCTGGAG
CTACAGGGCGTCAAGGGTGGGGTGGACCATGCAGCAGCTTTTGGAAGAATTGCCTTCTCTTGCCCCCAGAAAGAGTTGCCAGACTTAGAAGACTTGATGA
AAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGGACATGA
AATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAAGTGAC
GAGTGGTTTGCCAAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTGTGAGGCCTG
ACGTGGTGGAGTGCAGTGGGGCACCATCGTGGCTTTCTGCAGCCTTGACCTCTGGGGCTCAAGAGATCCTCCCACCTCAGCCTCCCGAATGGCTGGGCCC
ACAGCCACGTGCCACCACACCCAGCCAACGTTTTGATCTTTTGTAGCGACCGTCTCACTGCGTTGTTCAGGCTGCAAGCTGTTGTTTCAAACAGATGAAG
TTGGAAAGTTCTTCAGCTTCTCCAGAGTT


Protein Sequence     (SEQ ID NO:418):
MAARRALHFVFKVGNRFQTARFYRDVLGMKVESCSVARLECSGAISAHCSDYTRITEDSFSKPYDGKWSKTMVGFGPEDDHFVAELTYNYGVGDYKLGND
FMGITLASSQAVSNARKLEWPLTEVAEGVFETEAPGGYKFYLQNRSLPQSDPVLKVTLAVSDLQKSLNYWCNLLGMKIYEKDEEKQRALLGYADNQCKLE
LQGVKGGVDHAAAFGRIAFSCPQKELPDLEDLMKRENQKILTPLVSLDTPGKATVQVVILADPDGHEICFVGDEAFRELSKMDPEGSKLLDDAMAADKSD
EWFAKHNKPKASG*



SNP Information


Context              (SEQ ID NO:3174):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      368
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:418, 123,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3175):
TGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGG
W
CATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAA
Celera SNP ID:                hCV32356211
SNP Position Transcript:      795
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:418, 265,(G,GGA) (G,GGT)



Gene Number:                  62
Celera Gene:                  hCG32498 - 67000129080378
Celera Transcript:            hCT23687 - 67000129080379
Public Transcript Accession:  NM_016080
Celera Protein:               hCP45813 - 197000069434060
Public Protein Accession:     NP_057164
Gene Symbol:                  CGI-150
Protein Name:                  CGI-150 protein
Celera Genomic Axis:          GA_x5YUV32W2JD(14746769..14785113)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:158):
TGCACTCCAGCCTGGGTGACAGAACAAGACAAAAAAAAAAAAAGATACACTGGGTAATCACTAACCCATTATTCCTTGTGGCGTTACGAGGTCGGACCAA
TCCTTGATATCCTCAAATTTCACCTTAATGAGGCTGACACCTTTCAGCTTATCGACTGGCAACTCCTTTAGGTATTCTAGACGGCTAAAGAAGAACATTT
TTGGCACAGCTCCAGCCTTGAGAGCGTCTGAAATGAGCCTGCGACCTTCCAGCAGGATCTTCCCTTGTTTTTCCCGAAATGGCCTGGACTTTACTATTGT
CATTACACTGCTCCTCCTGTCCCCGGGATAAGCTTTATCGTAGCGAAGCCCAGACTCTTCCCAGGTGCTGGGAGCGCGGGATGCGGACTCCTCGAGCGGT
TGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCTCCGGAAGGAAACA
CCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGC
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
ACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGCGGCGGGAATCATGGCTGCTCGCAGAGCTCTGCACTTCGTATTCAAAGTGGGAAACCGCTTCCAGAC
GGCGCGTTTCTATCGGGACGTCCTGGGGATGAAGGTTCTGCGGCATGAGGAATTTGAAGAAGGCTGCAAAGCTGCCTGTAATGGGCCTTATGATGGGAAA
TGGAGTAAAACAATGGTGGGATTTGGGCCTGAGGATGATCATTTTGTCGCAGAACTGACTTACAATTATGGCGTCGGAGACTACAAGCTTGGCAATGACT
TTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGACGGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGC
CCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTAACTCTAGCAGTGTCTGATCTTCAAAAGTCCTTG
AACTACTGGTGTAATCTACTGGGAATGAAAATTTATGAAAAAGATGAAGAAAAGCAAAGGGCTTTGCTGGGCTATGCTGATAACCAGTGTAAGCTGGAGC
TACAGGGCGTCAAGGGTGGGGTGGACCATGCAGCAGCTTTTGGAAGAATTGCCTTCTCTTGCCCCCAGAAAGAGTTGCCAGACTTAGAAGACTTGATGAA
AAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGGACATGAA
ATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAAGTGACG
AGTGGTTTGCCAAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTGTGAGGCCTGA
CGTGTCAGTTCCCAATAAATGCTCTTCTGATTTGTTTCCCGTACAGGCAAGGAGGCTTGGGTAGTGCAGATTTGTGTATTTCAATCTTTGAAAGCTCTGA
TGTAATTTAGAAATGAAATCCAATCATGAGTCCAGGTAGAGAACGCCTGCTGTAATCTACACTGTTGCTGGGACTGCGCATTCTGTATATAACTGTGTTG
GATGAGTGACAGATGATTGTCCAGACTAGGACAGCGGCATGAACATGACTTTGGTTGGGATTGCGGATAGTTAGGGTTACCTCTGAATCGTGTAGCTTTT
ATGAGAGCAGCTGTGCAAGTGAATCCACATTAATGCCTTGTCGTGGTGCCATTCCCAGCGCCTGACGATACGCTCTTCTATTGTCTTATTCTGGCAGGTT
TTGACGTTTTAAATTTTTTAAAGAAATTTTATTCCTTGGACCAAAAGGTTTGGTTAACCACCCCCCTCTTACTTGCTTTCACATTTTGAGTGTCCAGAGG
AAACAGAAAGGAATGAGTGTGTGACGTTGCTGCACGCCTGACTCTGTGCGAGCTTCTTTCTGTGTATATATTTTGTTTTATTTTTTTCCGTGTATATTTT
TAATCCCGACAGAACATCATGTGAGATTTCTTTAAAATGGATTAAACGATTTCTTCAGCCTGAAAAAAAAGGTTTTGAAAATGTTTTCTTGTAGTTTTGT
TTGGTTCTAAACAACAAATAGGTTTTAATCACTCGAAATGGAATTATATTGTGTATTCATTGAATAAATTTTTTTTGAAAGTAAGCTTCTGAAATCAAGC
TGTGATACCAGTCTCTAAGTCTCATCATGTAAAGTGGTGGCCAGGTTCAGATTTTTAAAAATAAACTTAGGAGATTGGAAGGGATTGACTCAGAGGATCC
TGGTTCCCAAAGAACACATAGAGAATTACTTGTAAATCGTAACCTC


Protein Sequence     (SEQ ID NO:419):
MAARRALHFVFKVGNRFQTARFYRDVLGMKVLRHEEFEEGCKAACNGPYDGKWSKTMVGFGPEDDHFVAELTYNYGVGDYKLGNDFMGITLASSQAVSNA
RKLEWPLTEVAEGVFETEAPGGYKFYLQNRSLPQSDPVLKVTLAVSDLQKSLNYWCNLLGMKIYEKDEEKQRALLGYADNQCKLELQGVKGGVDHAAAFG
RIAFSCPQKELPDLEDLMKRENQKILTPLVSLDTPGKATVQVVILADPDGHEICFVGDEAFRELSKMDPEGSKLLDDAMAADKSDEWFAKHNKPKASG*



SNP Information


Context              (SEQ ID NO:3176):
CCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCGCGGGTCTCACCAGCGCCGCCATGTTCCCTGAGAC
Y
CGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGGACTGGGCTGTACGGTGCGCGTGACGGCTGCGTGC
Celera SNP ID:                hDV70661800
SNP Position Transcript:      634
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:419, None



Context              (SEQ ID NO:3177):
CTCCTCGAGCGGTTGTTTCTCTCGTTGCTCCTGGGCACTGGCCTCAGATGGTGCCTTGCGGGGCTGCTTCCCAGGAGCGCGCTTCTGTTCCACCACCTCT
Y
CGGAAGGAAACACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCAC
Celera SNP ID:                hCV16068189
SNP Position Transcript:      488
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:419, None



Context              (SEQ ID NO:3178):
ACCACTTTCACTGGGCTCCGCCGCAGCGCCCGGACCCAGCGCCTCGCGTCAAGGTCCCAAGCCTGGACCACCTGCAGCAACGGTCGCACGACAAACCTCG
M
GGGTCTCACCAGCGCCGCCATGTTCCCTGAGACCCGGGCTGCGTCACGAAAGCGCGCCGTCGGCGGCTAGTGACGTCACGGCCCGTGGCGCCCTTCGTGG
Celera SNP ID:                hCV22272823
SNP Position Transcript:      600
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,5)  african american(C,10|A,4)  total(C,33|A,9)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:419, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,23|A,7)  african american(C,25|A,9)  total(C,48|A,16)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:419, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:419, None



Context              (SEQ ID NO:3179):
TATGGCGTCGGAGACTACAAGCTTGGCAATGACTTTATGGGAATCACGCTCGCTTCTAGCCAGGCTGTCAGCAACGCCAGGAAGCTGGAGTGGCCACTGA
Y
GGAAGTTGCAGAAGGTGTTTTTGAAACCGAGGCCCCGGGAGGATATAAGTTCTATTTGCAGAATCGCAGTCTGCCTCAGTCAGATCCTGTATTAAAAGTA
Celera SNP ID:                hCV16190116
SNP Position Transcript:      1067
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:419, 108,(T,ACG) (M,ATG)



Context              (SEQ ID NO:3180):
TGATGAAAAGGGAGAACCAGAAGATTCTGACTCCCCTGGTGAGCCTGGACACCCCAGGGAAAGCAACAGTACAGGTGGTCATTCTGGCCGACCCTGACGG
W
CATGAAATTTGCTTTGTCGGGGATGAAGCATTTCGAGAACTTTCTAAGATGGATCCAGAGGGAAGCAAATTGTTGGATGATGCAATGGCAGCAGATAAAA
Celera SNP ID:                hCV32356211
SNP Position Transcript:      1494
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:419, 250,(G,GGA) (G,GGT)



Context              (SEQ ID NO:3181):
TGCCAAACACAATAAACCCAAAGCTTCAGGTTAACGGAAGACATGATGCAGAGCAAGCCTCTGTGATTCCTGCCCAGCACCTGTGAGGCCTGACGTGTCA
R
TTCCCAATAAATGCTCTTCTGATTTGTTTCCCGTACAGGCAAGGAGGCTTGGGTAGTGCAGATTTGTGTATTTCAATCTTTGAAAGCTCTGATGTAATTT
Celera SNP ID:                hCV29222314
SNP Position Transcript:      1708
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:419, None



Gene Number:                  63
Celera Gene:                  hCG32500 - 67000129083348
Celera Transcript:            hCT23689 - 67000129083349
Public Transcript Accession:  NM_018146
Celera Protein:               hCP45812 - 197000069434014
Public Protein Accession:     NP_060616
Gene Symbol:                  FLJ10581
Protein Name:                  putative RNA methyltransferase
Celera Genomic Axis:          GA_x5YUV32W2JD(14737648..14759808)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:159):
GTGACGCAGCCCGGGTCTCAGGGAACATGGCGGCGCTGGTGAGACCCGCGAGGTTTGTCGTGCGACCGTTGCTGCAGGTGGTCCAGGCTTGGGACCTTGA
CGCGAGGCGCTGGGTCCGGGCGCTGCGGCGGAGCCCAGTGAAAGTGGTGTTTCCTTCCGGAGAGGTGGTGGAACAGAAGCGCGCTCCTGGGAAGCAGCCC
CGCAAGGCACCATCTGAGGCCAGTGCCCAGGAGCAACGAGAGAAACAACCGCTCGAGGAGTCCGCATCCCGCGCTCCCAGCACCTGGGAAGAGTCTGGGC
TTCGCTACGATAAAGCTTATCCCGGGGACAGGAGGCTGAGCAGTGTAATGACAATAGTAAAGTCCAGGCCATTTCGGGAAAAACAAGGGAAGATCCTGCT
GGAAGGTCGCAGGCTCATTTCAGACGCTCTCAAGGCTGGAGCTGTGCCAAAAATGTTCTTCTTTAGCCGTCTAGAATACCTAAAGGAGTTGCCAGTCGAT
AAGCTGAAAGGTGTCAGCCTCATTAAGGTGAAATTTGAGGATATCAAGGATTGGTCCGACCTCGTAACGCCACAAGGAATAATGGGGATTTTTGCCAAGC
CTGACCATGTTAAGATGACATATCCAAAGACTCAGCTTCAGCATTCACTGCCTTTATTATTGATTTGTGACAATCTCCGTGACCCTGGGAACCTGGGGAC
AATTCTGAGATCTGCAGCTGGGGCAGGCTGCAGCAAAGTGTTACTCACCAAAGGCTGTGTGGATGCCTGGGAGCCCAAAGTGCTCCGGGCGGGTATGGGC
GCACATTTCCGGATGCCCATTATCAATAATCTGGAATGGGAAACCGTGCCCAATTACCTGCCCCCTGACACTCGGGTCTATGTGGCTGACAACTGTGGCC
TTTATGCCCAGGCTGAGATGTCTAATAAAGCTAGTGACCATGGCTGGGTGTGTGATCAACGAGTGATGAAGTTTCACAAGTATGAGGAAGAGGAAGATGT
AGAAACCGGAGCCAGTCAAGATTGGCTGCCTCATGTTGAGGTTCAGAGTTACGACTCGGACTGGACAGAGGCGCCGGCAGCTGTGGTGATTGGCGGGGAG
ACCTACGGCGTGAGCCTGGAGTCCCTGCAGCTGGCCGAGAGCACTGGTGGCAAGAGGCTGCTGATCCCCGTTGTGCCTGGTGTGGACAGCCTCAACTCGG
CCATGGCGGCAAGCATCCTGCTTTTCGAAGGGAAAAGACAGCTGCGGGGGAGGGCGGAGGACTTGAGCAGGGACAGGAGTTACCACTGAGGACGCAGAAG
TGACTTCTGCTTGAGGACGTCTGCAGCTCCTCCTACACCAGCACACTGGTGGGAGGCTGGCGGAGTCAGTGACTATGGCCCCCACGTTCAGGAGGAAGGT
GTGATGCCGTCATACAGTTACAGGAAAAATAAGAACTTCCTCAGAAAGAACAGGTCCGAATTCTTCCTGTCGCGTCACTGATTTTGAGGTTCTTTTTTCT
CTTGGTGACAATAGGTGACCCACGTGGCTCTGTGTGTTTTTAAAAATTGTCCACCAAGAAGCACTTTGTGCCCAGAAAGTTCCTGAAGCATCATCCTGGC
AGGGAGGCGCCTGCTCCACCAGCTGGTGGGTGTTTGTAATCGCCAAGCACCAGCTATAGGTCACAGCCACATCACTCACAGCTGATCACTGGTTGGTGGA
AAATAAACTATGAGCAGCAGATTACGTTAGTAA


Protein Sequence     (SEQ ID NO:420):
MAALVRPARFVVRPLLQVVQAWDLDARRWVRALRRSPVKVVFPSGEVVEQKRAPGKQPRKAPSEASAQEQREKQPLEESASRAPSTWEESGLRYDKAYPG
DRRLSSVMTIVKSRPFREKQGKILLEGRRLISDALKAGAVPKMFFFSRLEYLKELPVDKLKGVSLIKVKFEDIKDWSDLVTPQGIMGIFAKPDHVKMTYP
KTQLQHSLPLLLICDNLRDPGNLGTILRSAAGAGCSKVLLTKGCVDAWEPKVLRAGMGAHFRMPIINNLEWETVPNYLPPDTRVYVADNCGLYAQAEMSN
KASDHGWVCDQRVMKFHKYEEEEDVETGASQDWLPHVEVQSYDSDWTEAPAAVVIGGETYGVSLESLQLAESTGGKRLLIPVVPGVDSLNSAMAASILLF
EGKRQLRGRAEDLSRDRSYH*



SNP Information


Context              (SEQ ID NO:3182):
GTGACGCAGCCCG
R
GTCTCAGGGAACATGGCGGCGCTGGTGAGACCCGCGAGGTTTGTCGTGCGACCGTTGCTGCAGGTGGTCCAGGCTTGGGACCTTGACGCGAGGCGCTGGG
Celera SNP ID:                hDV70661800
SNP Position Transcript:      14
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:420, None



Context              (SEQ ID NO:3183):
GTGCGACCGTTGCTGCAGGTGGTCCAGGCTTGGGACCTTGACGCGAGGCGCTGGGTCCGGGCGCTGCGGCGGAGCCCAGTGAAAGTGGTGTTTCCTTCCG
R
AGAGGTGGTGGAACAGAAGCGCGCTCCTGGGAAGCAGCCCCGCAAGGCACCATCTGAGGCCAGTGCCCAGGAGCAACGAGAGAAACAACCGCTCGAGGAG
Celera SNP ID:                hCV16068189
SNP Position Transcript:      160
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:420, 45,(G,GGA) (E,GAA)



Context              (SEQ ID NO:3184):
GTGACGCAGCCCGGGTCTCAGGGAACATGGCGGCGCTGGTGAGACCC
K
CGAGGTTTGTCGTGCGACCGTTGCTGCAGGTGGTCCAGGCTTGGGACCTTGACGCGAGGCGCTGGGTCCGGGCGCTGCGGCGGAGCCCAGTGAAAGTGGT
Celera SNP ID:                hCV22272823
SNP Position Transcript:      48
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|T,5)  african american(G,10|T,4)  total(G,33|T,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:420, 8,(A,GCG) (S,TCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|T,7)  african american(G,25|T,9)  total(G,48|T,16)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:420, 8,(A,GCG) (S,TCG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:420, 8,(A,GCG) (S,TCG)



Context              (SEQ ID NO:3185):
TTATGCCCAGGCTGAGATGTCTAATAAAGCTAGTGACCATGGCTGGGTGTGTGATCAACGAGTGATGAAGTTTCACAAGTATGAGGAAGAGGAAGATGTA
S
AAACCGGAGCCAGTCAAGATTGGCTGCCTCATGTTGAGGTTCAGAGTTACGACTCGGACTGGACAGAGGCGCCGGCAGCTGTGGTGATTGGCGGGGAGAC
Celera SNP ID:                hCV22272127
SNP Position Transcript:      1002
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|G,12)  african american(C,2|G,14)  total(C,6|G,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:420, 326,(E,GAA) (Q,CAA)



Context              (SEQ ID NO:3186):
GCTGCAGCAAAGTGTTACTCACCAAAGGCTGTGTGGATGCCTGGGAGCCCAAAGTGCTCCGGGCGGGTATGGGCGCACATTTCCGGATGCCCATTATCAA
Y
AATCTGGAATGGGAAACCGTGCCCAATTACCTGCCCCCTGACACTCGGGTCTATGTGGCTGACAACTGTGGCCTTTATGCCCAGGCTGAGATGTCTAATA
Celera SNP ID:                hCV25613043
SNP Position Transcript:      827
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,38)  african american(C,0|T,36)  total(C,2|T,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:420, 267,(N,AAT) (N,AAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,2|T,38)  african american(C,0|T,38)  total(C,2|T,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:420, 267,(N,AAT) (N,AAC)



Gene Number:                  64
Celera Gene:                  hCG34030 - 104000117737810
Celera Transcript:            hCT1686624 - 104000117737819
Public Transcript Accession:
Celera Protein:               hCP1690134 - 197000069408597
Public Protein Accession:
Gene Symbol:                  MRPL18
Protein Name:                  mitochondrial ribosomal protein L18
Celera Genomic Axis:          GA_x54KRFTF0F9(10845984..10866975)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:160):
GGAGCTGGGGTGTAACTGGAGGGGCGGGCCCTTCTCCAAGTTAGAGTTGGGGTTCTGAGCGAGTCGTGCGTTTTAGGTTTAGTGTCTTTTCCTTGTCCCT
GCTCGGGGAGCGTGAGGCAGATCGGCCGGCTTTGCTCCAGGCCTCAGGAGTGGTGCAGGTTCGCAGCCCTGTCAACCAGCTCCGAGCCGGCAGCGAAACC
TGAAGTGGACCCTGTGGAAAATGAAGCTGTCGCCCCAGAATTCACCAACCGGAACCCCCGGAACCTGGAGCTTTTATCTGTAGCCAGGAAAGAGCGGGGC
TGGCGGACGGTGTTTCCCTCCCGTGAGTTCTGGCACAGGTTGCGAGTTATAAGGACTCAGCATCATGTAGAAGCACTTGTGGAGCATCAGAATGGCAAGG
TTGTGGTTTCGGCCTCCACTCGTGAGTGGGCTATTAAAAAGCACCTTTATAGTACCAGAAATGTGGTGGCTTGTGAGAGTATAGGACGAGTGCTGGCACA
GAGATGCTTAGAGGCGGGAATCAACTTCATGGTCTACCAACCAACCCCGTGGGAGGCAGCCTCAGACTCGATGAAACGACTACAAAGTGCCATGACAGAA
GGTGGTGTGGTTCTACGGGAACCTCAGAGAATCTATGAATAAATGGAAGCATTAATTGTTTTGAACATGTAAATATAAATCTGTCAGCCACTACAGCCAT
CAAAAGAGAGCATCTGGAAGAACAGCCAGCTTGGAAGTTTTACAGCAATAATGTTGCAGTGGAATATTATTTGTAGTTAAGGTCATCCTCCTCCCCTTTC
TGTTTTTTTAAATCAAGAACTACGTTCTGCCCCTCTCTTGGGCTTCAGAAGCATCTAAGAAAAGCAGTCATCAATTATAATTAACTTTCAAAGGGCAAGT
CAGAAGTTGTTTATAAATTACAAAATAAAGGCATATTATGAACTCTTATTTTCTGGTTATATGACATTGTCTGAGCTCACTGTGGCAGTGGAGCACATAT
GAGGTTGATGTAAAGCACTTATTACTGTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGGGTGTTTTTTAAAA
TAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGGTTCCCAACAGTA
AGAGAAACAAATTTGAAAGAGGAAGGAGGTGGCATCAGGAGCTGAAAGCAGAGGTGGAAATGGTTGGGGTTAGTGGGCGCTCAATTTGCCATGAAGTGAA
CATTTTATTAGATAGGAGATGAAACTTGAAATGCATGCAAGTTAATCTAAAATTTGAGCTTGGGTAGATGGGAATCATGGCAGTTCTCTGAAAGGAGCTG
ATTAAGGTGTTAATTTTTGGCTATTTGAT


Protein Sequence     (SEQ ID NO:421):
LEGRALLQVRVGVLSESCVLGLVSFPCPCSGSVRQIGRLCSRPQEWCRFAALSTSSEPAAKPEVDPVENEAVAPEFTNRNPRNLELLSVARKERGWRTVF
PSREFWHRLRVIRTQHHVEALVEHQNGKVVVSASTREWAIKKHLYSTRNVVACESIGRVLAQRCLEAGINFMVYQPTPWEAASDSMKRLQSAMTEGGVVL
REPQRIYE*



SNP Information


Context              (SEQ ID NO:3187):
AACTTCATGGTCTACCAACCAACCCCGTGGGAGGCAGCCTCAGACTCGATGAAACGACTACAAAGTGCCATGACAGAAGGTGGTGTGGTTCTACGGGAAC
Y
TCAGAGAATCTATGAATAAATGGAAGCATTAATTGTTTTGAACATGTAAATATAAATCTGTCAGCCACTACAGCCATCAAAAGAGAGCATCTGGAAGAAC
Celera SNP ID:                hCV31882835
SNP Position Transcript:      623
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:421, 203,(P,CCT) (L,CTT)



Context              (SEQ ID NO:3188):
GGAGCTGGGGTGTAACTGGAGGGGCGGGCCCTTCTCCAAGTTAGAGTTGGGGTTCTGAGCGAGTCGTGCGTTTTAGGTTTAGTGTCTTTTCCTTGTC
Y
CTGCTCGGGGAGCGTGAGGCAGATCGGCCGGCTTTGCTCCAGGCCTCAGGAGTGGTGCAGGTTCGCAGCCCTGTCAACCAGCTCCGAGCCGGCAGCGAAA
Celera SNP ID:                hCV29322837
SNP Position Transcript:      98
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:421, 28,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3189):
AGCCAGCTTGGAAGTTTTACAGCAATAATGTTGCAGTGGAATATTATTTGTAGTTAAGGTCATCCTCCTCCCCTTTCTGTTTTTTTAAATCAAGAACTAC
R
TTCTGCCCCTCTCTTGGGCTTCAGAAGCATCTAAGAAAAGCAGTCATCAATTATAATTAACTTTCAAAGGGCAAGTCAGAAGTTGTTTATAAATTACAAA
Celera SNP ID:                hCV1361933
SNP Position Transcript:      824
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,564|G,2556) ; no_pop(A,2|G,2) ; no_pop(A,-|G,-) ; no_pop(A,15
6|G,184) ; no_pop(A,52|G,68)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:421, None



Context              (SEQ ID NO:3190):
GTGGAGCACATATGAGGTTGATGTAAAGCACTTATTACTGTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGG
K
TGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGG
Celera SNP ID:                hCV27926319
SNP Position Transcript:      1088
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:421, None



Context              (SEQ ID NO:3191):
GTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGGGTGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATA
Y
TATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGGTTCCCAACAGTAAGAGAAACAAATTTGAAAGAGGAAGGA
Celera SNP ID:                hCV31883260
SNP Position Transcript:      1127
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:421, None



Context              (SEQ ID NO:3192):
CGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGGGTGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAG
W
ATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGGTTCCCAACAGTAAGAGAAACAAATTTGAAAGAGGAAGGAGGTGGCATCAGGAGC
Celera SNP ID:                hCV27971987
SNP Position Transcript:      1142
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:421, None



Gene Number:                  64
Celera Gene:                  hCG34030 - 104000117737810
Celera Transcript:            hCT1774672 - 104000117737811
Public Transcript Accession:
Celera Protein:               hCP1717586 - 197000069408596
Public Protein Accession:
Gene Symbol:                  MRPL18
Protein Name:                  mitochondrial ribosomal protein L18
Celera Genomic Axis:          GA_x54KRFTF0F9(10845984..10866975)
Chromosome:                   6
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:161):
TGGGGTTCTGAGCGAGTCGTGCGTTTTAGGTTTAGTGTCTTTTCCTTGTCCCTGCTCGGGGAGCGTGAGGCAGATCGGCCGGCTTTGCTCCAGGCCTCAG
GAGTGTAAGTTTAAGGGCGCGAACCTGGGTGGGACGGGGCAGTTTTTCCAGCGGGCCATACGGGAAAATTTTTGGTTCGAGGAAGACAACCACCCTTTTT
AAGGAGAAAACTGCATCTTGCCCTGCCTTATTCCTACGCGGTGCCCAGGTGGGGTGTGTGTGGACCAGTCAATGACCGCCCAAGCTCTCCGAGTAGAAAA
CCCAAACATGGTTTTGTGGGGTGTGTGCCTTTGACCCCGGACTTAAGCAACAAGCGTGGTCTTGGGCGTAGCTACGAGGTGGTTGGTGGGCTCCAGGGCC
TGCGTGCCCCTCGACGTGAGCGATGATTGGCGGTGCAGGATAACAGATCGCCTTCTTGGCCACTCAGTGGCAGGGGACTTGCTACTTCCGGGTCGGCGGC
GTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCAAAGGCTTGTCCCTGACTTTATATGGCTGCGCCTGGCGAGCGACTGAGTCGTCCGTGAGGAAAAA
GAGGCGAGGCTTTTCCGAGATCGTCTCAGCGATGGCGCTTCGGTCGCAGTTTTGGGGGTTCTCGGTTTGCAGGAACCCTGGGTGCAGGTTCGCAGCCCTG
TCAACCAGCTCCGAGCCGGCAGCGAAACCTGAAGTGGACCCTGTGGAAAATGAAGCTGTCGCCCCAGAATTCACCAACCGGAACCCCCGGAACCTGGAGC
TTTTATCTGTAGCCAGGAAAGAGCGGGGCTGGCGGACGGTGTTTCCCTCCCGTGAGTTCTGGCACAGGTTGCGAGTTATAAGGACTCAGCATCATGTAGA
AGCACTTGTGGAGCATCAGAATGGCAAGGTTGTGGTTTCGGCCTCCACTCGTGAGTGGGCTATTAAAAAGCACCTTTATAGTACCAGAAATGTGGTGGCT
TGTGAGAGTATAGGACGAGTGCTGGCACAGAGATGCTTAGAGGCGGGAATCAACTTCATGGTCTACCAACCAACCCCGTGGGAGGCAGCCTCAGACTCGA
TGAAACGACTACAAAGTGCCATGACAGAAGGTGGTGTGGTTCTACGGGAACCTCAGAGAATCTATGAATAAATGGAAGCATTAATTGTTTTGAACATGTA
AATATAAATCTGTCAGCCACTACAGCCATCAAAAGAGAGCATCTGGAAGAACAGCCAGCTTGGAAGTTTTACAGCAATAATGTTGCAGTGGAATATTATT
TGTAGTTAAGGTCATCCTCCTCCCCTTTCTGTTTTTTTAAATCAAGAACTACGTTCTGCCCCTCTCTTGGGCTTCAGAAGCATCTAAGAAAAGCAGTCAT
CAATTATAATTAACTTTCAAAGGGCAAGTCAGAAGTTGTTTATAAATTACAAAATAAAGGCATATTATGAACTCTTATTTTCTGGTTATATGACATTGTC
TGAGCTCACTGTGGCAGTGGAGCACATATGAGGTTGATGTAAAGCACTTATTACTGTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTG
CTGCTCGGAGTGTGGGGTGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAAC
CTCACTTGGACTCTTGGTTCCCAACAGTAAGAGAAACAAATTTGAAAGAGGAAGGAGGTGGCATCAGGAGCTGAAAGCAGAGGTGGAAATGGTTGGGGTT
AGTGGGCGCTCAATTTGCCATGAAGTGAACATTTTATTAGATAGGAGATGAAACTTGAAATGCATGCAAGTTAATCTAAAATTTGAGCTTGGGTAGATGG
GAATCATGGCAGTTCTCTGAAAGGAGCTGATTAAGGTGTTAATTTTTGGCTATTTGAT


Protein Sequence     (SEQ ID NO:422):
MALRSQFWGFSVCRNPGCRFAALSTSSEPAAKPEVDPVENEAVAPEFTNRNPRNLELLSVARKERGWRTVFPSREFWHRLRVIRTQHHVEALVEHQNGKV
VVSASTREWAIKKHLYSTRNVVACESIGRVLAQRCLEAGINFMVYQPTPWEAASDSMKRLQSAMTEGGVVLREPQRIYE*



SNP Information


Context              (SEQ ID NO:3193):
TGGTCTTGGGCGTAGCTACGAGGTGGTTGGTGGGCTCCAGGGCCTGCGTGCCCCTCGACGTGAGCGATGATTGGCGGTGCAGGATAACAGATCGCCTTCT
Y
GGCCACTCAGTGGCAGGGGACTTGCTACTTCCGGGTCGGCGGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCAAAGGCTTGTCCCTGACTTTAT
Celera SNP ID:                hCV16179944
SNP Position Transcript:      457
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3194):
GGCGGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCAAAGGCTTGTCCCTGACTTTATATGGCTGCGCCTGGCGAGCGACTGAGTCGTCCGTGAG
R
AAAAAGAGGCGAGGCTTTTCCGAGATCGTCTCAGCGATGGCGCTTCGGTCGCAGTTTTGGGGGTTCTCGGTTTGCAGGAACCCTGGGTGCAGGTTCGCAG
Celera SNP ID:                hCV27466912
SNP Position Transcript:      595
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3195):
CCCGGACTTAAGCAACAAGCGTGGTCTTGGGCGTAGCTACGAGGTGGTTGGTGGGCTCCAGGGCCTGCGTGCCCCTCGACGTGAGCGATGATTGGCGGTG
M
AGGATAACAGATCGCCTTCTTGGCCACTCAGTGGCAGGGGACTTGCTACTTCCGGGTCGGCGGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCA
Celera SNP ID:                hCV16179945
SNP Position Transcript:      436
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3196):
AACTTCATGGTCTACCAACCAACCCCGTGGGAGGCAGCCTCAGACTCGATGAAACGACTACAAAGTGCCATGACAGAAGGTGGTGTGGTTCTACGGGAAC
Y
TCAGAGAATCTATGAATAAATGGAAGCATTAATTGTTTTGAACATGTAAATATAAATCTGTCAGCCACTACAGCCATCAAAAGAGAGCATCTGGAAGAAC
Celera SNP ID:                hCV31882835
SNP Position Transcript:      1152
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:422, 174,(P,CCT) (L,CTT)



Context              (SEQ ID NO:3197):
TGGGGTTCTGAGCGAGTCGTGCGTTTTAGGTTTAGTGTCTTTTCCTTGTC
Y
CTGCTCGGGGAGCGTGAGGCAGATCGGCCGGCTTTGCTCCAGGCCTCAGGAGTGTAAGTTTAAGGGCGCGAACCTGGGTGGGACGGGGCAGTTTTTCCAG
Celera SNP ID:                hCV29322837
SNP Position Transcript:      51
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3198):
GGGTGGGACGGGGCAGTTTTTCCAGCGGGCCATACGGGAAAATTTTTGGTTCGAGGAAGACAACCACCCTTTTTAAGGAGAAAACTGCATCTTGCCCTGC
S
TTATTCCTACGCGGTGCCCAGGTGGGGTGTGTGTGGACCAGTCAATGACCGCCCAAGCTCTCCGAGTAGAAAACCCAAACATGGTTTTGTGGGGTGTGTG
Celera SNP ID:                hCV29322836
SNP Position Transcript:      227
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3199):
GGGGTGTGTGTGGACCAGTCAATGACCGCCCAAGCTCTCCGAGTAGAAAACCCAAACATGGTTTTGTGGGGTGTGTGCCTTTGACCCCGGACTTAAGCAA
M
AAGCGTGGTCTTGGGCGTAGCTACGAGGTGGTTGGTGGGCTCCAGGGCCTGCGTGCCCCTCGACGTGAGCGATGATTGGCGGTGCAGGATAACAGATCGC
Celera SNP ID:                hCV16179955
SNP Position Transcript:      351
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3200):
GGCCTGCGTGCCCCTCGACGTGAGCGATGATTGGCGGTGCAGGATAACAGATCGCCTTCTTGGCCACTCAGTGGCAGGGGACTTGCTACTTCCGGGTCGG
Y
GGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCAAAGGCTTGTCCCTGACTTTATATGGCTGCGCCTGGCGAGCGACTGAGTCGTCCGTGAGGAA
Celera SNP ID:                hCV16179943
SNP Position Transcript:      497
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3201):
CTGACTTTATATGGCTGCGCCTGGCGAGCGACTGAGTCGTCCGTGAGGAAAAAGAGGCGAGGCTTTTCCGAGATCGTCTCAGCGATGGCGCTTCGGTCGC
R
GTTTTGGGGGTTCTCGGTTTGCAGGAACCCTGGGTGCAGGTTCGCAGCCCTGTCAACCAGCTCCGAGCCGGCAGCGAAACCTGAAGTGGACCCTGTGGAA
Celera SNP ID:                hCV11920268
SNP Position Transcript:      648
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:422, 6,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3202):
GACCCCGGACTTAAGCAACAAGCGTGGTCTTGGGCGTAGCTACGAGGTGGTTGGTGGGCTCCAGGGCCTGCGTGCCCCTCGACGTGAGCGATGATTGGCG
R
TGCAGGATAACAGATCGCCTTCTTGGCCACTCAGTGGCAGGGGACTTGCTACTTCCGGGTCGGCGGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAG
Celera SNP ID:                hCV16179954
SNP Position Transcript:      433
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3203):
TTTGGTTCGAGGAAGACAACCACCCTTTTTAAGGAGAAAACTGCATCTTGCCCTGCCTTATTCCTACGCGGTGCCCAGGTGGGGTGTGTGTGGACCAGTC
R
ATGACCGCCCAAGCTCTCCGAGTAGAAAACCCAAACATGGTTTTGTGGGGTGTGTGCCTTTGACCCCGGACTTAAGCAACAAGCGTGGTCTTGGGCGTAG
Celera SNP ID:                hCV30520228
SNP Position Transcript:      271
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3204):
AGTGGCAGGGGACTTGCTACTTCCGGGTCGGCGGCGTCTGGCGTGGAGAGTTTGGGGATCTACAGCAGCCAAAGGCTTGTCCCTGACTTTATATGGCTGC
K
CCTGGCGAGCGACTGAGTCGTCCGTGAGGAAAAAGAGGCGAGGCTTTTCCGAGATCGTCTCAGCGATGGCGCTTCGGTCGCAGTTTTGGGGGTTCTCGGT
Celera SNP ID:                hCV8701919
SNP Position Transcript:      566
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3205):
AGCCAGCTTGGAAGTTTTACAGCAATAATGTTGCAGTGGAATATTATTTGTAGTTAAGGTCATCCTCCTCCCCTTTCTGTTTTTTTAAATCAAGAACTAC
R
TTCTGCCCCTCTCTTGGGCTTCAGAAGCATCTAAGAAAAGCAGTCATCAATTATAATTAACTTTCAAAGGGCAAGTCAGAAGTTGTTTATAAATTACAAA
Celera SNP ID:                hCV1361933
SNP Position Transcript:      1353
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,564|G,2556) ; no_pop(A,2|G,2) ; no_pop(A,-|G,-) ; no_pop(A,15
6|G,184) ; no_pop(A,52|G,68)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3206):
GTGGAGCACATATGAGGTTGATGTAAAGCACTTATTACTGTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGG
K
TGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGG
Celera SNP ID:                hCV27926319
SNP Position Transcript:      1617
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3207):
GTGTCTAGTTCATGGCGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGGGTGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATA
Y
TATAGAACAGTCAGTATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGGTTCCCAACAGTAAGAGAAACAAATTTGAAAGAGGAAGGA
Celera SNP ID:                hCV31883260
SNP Position Transcript:      1656
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:422, None



Context              (SEQ ID NO:3208):
CGAGTGATCTCAGTGAATGACAGTTGTTTGCTGCTCGGAGTGTGGGGTGTTTTTTAAAATAGGAAATGTCAGTATCAATCTAATATTATAGAACAGTCAG
W
ATGTGAAAATGAAAGGACCAAATGCCAACCTCACTTGGACTCTTGGTTCCCAACAGTAAGAGAAACAAATTTGAAAGAGGAAGGAGGTGGCATCAGGAGC
Celera SNP ID:                hCV27971987
SNP Position Transcript:      1671
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:422, None



Gene Number:                  65
Celera Gene:                  hCG34031 - 104000117737765
Celera Transcript:            hCT1953633 - 104000117737793
Public Transcript Accession:  NM_005891
Celera Protein:               hCP1766337 - 197000069408595
Public Protein Accession:     NP_005882
Gene Symbol:                  ACAT2
Protein Name:                  acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolas
e)

Celera Genomic Axis:          GA_x54KRFTF0F9(10863787..10895444)
Chromosome:                   6
OMIM NUMBER:                  100678
OMIM Information:             ?ACAT2 deficiency (1)


Transcript Sequence  (SEQ ID NO:162):
ATCTTAGAAGGCAGGGGGCTCGCACCGAGACGCTCCTAGCAAGCCCCTCACGCGAGCGAATGACTGGCGCCAGGAGAAACGCATAGGACCTCCCGAAGCC
GCCGAGAGCAAAAGGACCCATCAGAGCTGTGCTGAGACCCGCCGCGGGCCGGGCTCGCACTCGAGATTCTCGCCCGTGGGATTCCAGTCCTGAGCTGAAC
GAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAGAAACCCTAAGATTTTTTAAAAAAAAGCCCAAGACGTCAAGTCGGGGAACTCCAACAT
TGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCAAGCCCAGACCCCGGCCTCACTTCCGCCCCG
CGCCCCGCGCCCCGGCCTCACGTCCCGCCCGCGGCAGGCCTGTGGGCTGCGAGGAGGAGCTTTGCCTAGCTTGCAGGCAGCGCAGGGCAGACGGCGGCAG
GAGAAGCAAGATGAATGCAGGCTCAGATCCTGTGGTCATCGTCTCGGCGGCGCGGACCATCATAGGTTCCTTCAATGGTGCCTTAGCTGCTGTTCCTGTC
CAGGACCTGGGCTCCACTGTCATCAAAGAAGTCTTGAAGAGGGCCACTGTGGCTCCGGAAGATGTGTCTGAGGTCATCTTTGGACATGTCTTGGCAGCAG
GCTGTGGGCAGAATCCTGTTAGACAAGCCAGTGTGGGTGCAGGAATTCCCTACTCTGTTCCAGCATGGAGCTGCCAGATGATCTGTGGGTCAGGCCTAAA
AGCTGTGTGCCTTGCAGTCCAGTCAATAGGGATAGGAGACTCCAGCATTGTGGTTGCAGGAGGCATGGAAAATATGAGCAAGGCTCCTCACTTGGCTTAC
TTGAGAACAGGAGTAAAGATAGGTGAGATGCCACTGACTGACAGTATACTCTGTGATGGTCTTACAGATGCATTTCACAACTGTCATATGGGTATTACAG
CTGAAAATGTAGCCAAAAAATGGCAAGTGAGTAGAGAAGATCAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCA
TTTTGACAAAGAGATTGTACCAGTTTTGGTGTCAACTAGAAAAGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCC
ATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTA
TGAAGAAGTCAGAAGCTGATAAACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACC
AATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCTCTGCTGCA
ATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTG
TGACCCTGTTACACACACTGGAGAGAATGGGCAGAAGTCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGA
ATGAATTGCTTAAACTTTGAACAACCTCAATTTCTTTTTAAACTAATAAAGTACTAGGTTGCAATATGTGAAATCAGAGGACCAAAGTACAGATGGAAAC
CATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTAT
AAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGCATTTTAGATTT
TTACGTTCTGGGTTAACCTGGGCCTCATTATGAAAAGCTCTTAATTTTGCAACCAGATCTGTGGAGTCCTGGGCAGCATTAACTGCTAGTGTATTGGGAA
TAACAAGAAGTGATCTTGCAAACTCTGCAATCGCAAGCTGTTCCCGAGACCCCATGCTGGTTGCATAGTTTTCAAGGTATATGGAAAGGGCTGCTTCTAC
AGCACCCCCACCGGGAACCACAGATTTTGACTCCAAAACTCTCTTCACTACACAAAGTGCATCATGTAAAGAGCGCTCCATCTCATCACACATGAAATCA
TTTGCCCCACGTAAGATAATCGATGCAGACGTACGAGCCTTAGTATTTTTGATTAAGATCAGCTCATCATCACAAATTCTCTCCTGTACCACTTCTTCTG
CCTGTCCCAACATTGCAGCTTCAAAAGTTTCTTCACCTTCCAAATTGGCCAGGGTTGACAGAATAGTTGCTCCAGAAGCTTTGGCAATGCGTTTAAGGTC
CCTTTTTAAAACTCTTCTAACTGCCATAGCACCAGCCTCCACAAAATACTTCAGACACATATCATCAATTCCACCAGTGGTTAGAATAACATTGGCACCA
GTTGCCAGGATCTTCTGAATTCTCTCCTTGGTGATATCT


Protein Sequence     (SEQ ID NO:423):
MNAGSDPVVIVSAARTIIGSFNGALAAVPVQDLGSTVIKEVLKRATVAPEDVSEVIFGHVLAAGCGQNPVRQASVGAGIPYSVPAWSCQMICGSGLKAVC
LAVQSIGIGDSSIVVAGGMENMSKAPHLAYLRTGVKIGEMPLTDSILCDGLTDAFHNCHMGITAENVAKKWQVSREDQDKVAVLSQNRTENAQKAGHFDK
EIVPVLVSTRKGLIEVKTDEFPRHGSNIEAMSKLKPYFLTDGTGTVTPANASGINDGAAAVVLMKKSEADKRGLTPLARIVSWSQVGVEPSIMGIGPIPA
IKQAVTKAGWSLEDVDIFEINEAFAAVSAAIVKELGLNPEKVNIEGGAIALGHPLGASGCRILVTLLHTLERMGRSRGVAALCIGGGMGIAMCVQRE*



SNP Information


Context              (SEQ ID NO:3209):
AATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTGTGACCCTGTTACACACACTGGAGAGAATGGGCAGAA
R
TCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGAATGAATTGCTTAAACTTTGAACAACCTCAATTTCTTT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      1637
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:423, 376,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3210):
GAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGT
Y
TCTGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTC
Celera SNP ID:                hCV31882846
SNP Position Transcript:      1491
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:423, 327,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3211):
CGTGGGATTCCAGTCCTGAGCTGAACGAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAGAAACCCTAAGATTTTTTAAAAAAAAGCCCAA
R
ACGTCAAGTCGGGGAACTCCAACATTGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCAAGCCC
Celera SNP ID:                hCV1361992
SNP Position Transcript:      275
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,800|G,680) ; no_pop(A,1|G,1) ; no_pop(A,-|G,-) ; no_pop(A,246
|G,90)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3212):
CCAAGACGTCAAGTCGGGGAACTCCAACATTGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCA
R
GCCCAGACCCCGGCCTCACTTCCGCCCCGCGCCCCGCGCCCCGGCCTCACGTCCCGCCCGCGGCAGGCCTGTGGGCTGCGAGGAGGAGCTTTGCCTAGCT
Celera SNP ID:                hCV1361991
SNP Position Transcript:      371
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3213):
ATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCT
Y
TGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGA
Celera SNP ID:                hCV31882845
SNP Position Transcript:      1493
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:423, 328,(S,TCT) (F,TTT)



Context              (SEQ ID NO:3214):
CAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCATTTTGACAAAGAGATTGTACCAGTTTTGGTGTCAACTAGAA
R
AGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGA
Celera SNP ID:                hCV1361979
SNP Position Transcript:      1142
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,22)  african american(A,24|G,8)  total(A,42|G,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:423, 211,(K,AAA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2406|G,530) ; no_pop(A,6|G,2) ; no_pop(A,-|G,-) ; no_pop(A,42
0|G,260)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:423, 211,(K,AAA) (R,AGA)



Context              (SEQ ID NO:3215):
GCCCCTCACGCGAGCGAATGACTGGCGCCAGGAGAAACGCATAGGACCTCCCGAAGCCGCCGAGAGCAAAAGGACCCATCAGAGCTGTGCTGAGACCCGC
Y
GCGGGCCGGGCTCGCACTCGAGATTCTCGCCCGTGGGATTCCAGTCCTGAGCTGAACGAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAG
Celera SNP ID:                hCV16179968
SNP Position Transcript:      143
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3216):
CTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGG
R
CTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAA
Celera SNP ID:                hCV1361976
SNP Position Transcript:      1329
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,16|G,24)  african american(A,7|G,27)  total(A,23|G,51)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:423, 273,(G,GGG) (G,GGA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,134|A,50) ; no_pop(G,8|A,6) ; no_pop(G,560|A,1528)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:423, 273,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3217):
TAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGT
Y
GTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAA
Celera SNP ID:                hCV11920273
SNP Position Transcript:      1293
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,29|T,5)  total(C,65|T,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:423, 261,(V,GTC) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:423, 261,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3218):
TGAAATCAGAGGACCAAAGTACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCA
M
GGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTT
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1869
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,29|C,3)  african american(A,21|C,5)  total(A,50|C,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,36|C,4)  african american(A,29|C,5)  total(A,65|C,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,438|C,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3219):
TACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCAT
Y
TAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGG
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1888
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3220):
TTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCA
W
TAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGCATTTTAGATTTTTACGTTCTGGGTTAACCTGGGCCTCA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      1927
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None



Context              (SEQ ID NO:3221):
TTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCAT
W
AAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGCATTTTAGATTTTTACGTTCTGGGTTAACCTGGGCCTCAT
Celera SNP ID:                hCV27040077
SNP Position Transcript:      1928
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:423, None



Gene Number:                  65
Celera Gene:                  hCG34031 - 104000117737765
Celera Transcript:            hCT1953635 - 104000117737766
Public Transcript Accession:  NM_005891
Celera Protein:               hCP1766341 - 197000069408593
Public Protein Accession:     NP_005882
Gene Symbol:                  ACAT2
Protein Name:                  acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolas
e)

Celera Genomic Axis:          GA_x54KRFTF0F9(10863787..10895444)
Chromosome:                   6
OMIM NUMBER:                  100678
OMIM Information:             ?ACAT2 deficiency (1)


Transcript Sequence  (SEQ ID NO:163):
ATCTTAGAAGGCAGGGGGCTCGCACCGAGACGCTCCTAGCAAGCCCCTCACGCGAGCGAATGACTGGCGCCAGGAGAAACGCATAGGACCTCCCGAAGCC
GCCGAGAGCAAAAGGACCCATCAGAGCTGTGCTGAGACCCGCCGCGGGCCGGGCTCGCACTCGAGATTCTCGCCCGTGGGATTCCAGTCCTGAGCTGAAC
GAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAGAAACCCTAAGATTTTTTAAAAAAAAGCCCAAGACGTCAAGTCGGGGAACTCCAACAT
TGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCAAGCCCAGACCCCGGCCTCACTTCCGCCCCG
CGCCCCGCGCCCCGGCCTCACGTCCCGCCCGCGGCAGGCCTGTGGGCTGCGAGGAGGAGCTTTGCCTAGCTTGCAGGCAGCGCAGGGCAGACGGCGGCAG
GAGAAGCAAGATGAATGCAGGCTCAGATCCTGTGGTCATCGTCTCGGCGGCGCGGACCATCATAGGTTCCTTCAATGGTGCCTTAGCTGCTGTTCCTGTC
CAGGACCTGGGCTCCACTGTCATCAAAGAAGTCTTGAAGAGGGCCACTGTGGCTCCGGAAGATGTGTCTGAGGTCATCTTTGGACATGTCTTGGCAGCAG
GCTGTGGGCAGAATCCTGTTAGACAAGCCAGTGTGGGTGCAGGAATTCCCTACTCTGTTCCAGCATGGAGCTGCCAGATGATCTGTGGGTCAGGCCTAAA
AGCTGTGTGCCTTGCAGTCCAGTCAATAGGGATAGGAGACTCCAGCATTGTGGTTGCAGGAGGCATGGAAAATATGAGCAAGGCTCCTCACTTGGCTTAC
TTGAGAACAGGAGTAAAGATAGGTGAGATGCCACTGACTGACAGTATACTCTGTGATGGTCTTACAGATGCATTTCACAACTGTCATATGGGTATTACAG
CTGAAAATGTAGCCAAAAAATGGCAAGTGAGTAGAGAAGATCAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCA
TTTTGACAAAGAGATTGTACCAGTTTTGGTGTCAACTAGAAAAGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCC
ATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTA
TGAAGAAGTCAGAAGCTGATAAACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACC
AATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCTCTGCTGCA
ATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTG
TGACCCTGTTACACACACTGGAGAGAATGGGCAGAAGTCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGA
ATGAATTGCTTAAACTTTGAACAACCTCAATTTCTTTTTAAACTAATAAAGTACTAGGTTGCAATATGTGAAATCAGAGGACCAAAGTACAGATGGAAAC
CATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTAT
AAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAAT
AAGATCATCAATTCGAAGAA


Protein Sequence     (SEQ ID NO:424):
MNAGSDPVVIVSAARTIIGSFNGALAAVPVQDLGSTVIKEVLKRATVAPEDVSEVIFGHVLAAGCGQNPVRQASVGAGIPYSVPAWSCQMICGSGLKAVC
LAVQSIGIGDSSIVVAGGMENMSKAPHLAYLRTGVKIGEMPLTDSILCDGLTDAFHNCHMGITAENVAKKWQVSREDQDKVAVLSQNRTENAQKAGHFDK
EIVPVLVSTRKGLIEVKTDEFPRHGSNIEAMSKLKPYFLTDGTGTVTPANASGINDGAAAVVLMKKSEADKRGLTPLARIVSWSQVGVEPSIMGIGPIPA
IKQAVTKAGWSLEDVDIFEINEAFAAVSAAIVKELGLNPEKVNIEGGAIALGHPLGASGCRILVTLLHTLERMGRSRGVAALCIGGGMGIAMCVQRE*



SNP Information


Context              (SEQ ID NO:3222):
AATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTGTGACCCTGTTACACACACTGGAGAGAATGGGCAGAA
R
TCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGAATGAATTGCTTAAACTTTGAACAACCTCAATTTCTTT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      1637
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:424, 376,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3223):
GAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGT
Y
TCTGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTC
Celera SNP ID:                hCV31882846
SNP Position Transcript:      1491
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:424, 327,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3224):
CGTGGGATTCCAGTCCTGAGCTGAACGAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAGAAACCCTAAGATTTTTTAAAAAAAAGCCCAA
R
ACGTCAAGTCGGGGAACTCCAACATTGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCAAGCCC
Celera SNP ID:                hCV1361992
SNP Position Transcript:      275
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,800|G,680) ; no_pop(A,1|G,1) ; no_pop(A,-|G,-) ; no_pop(A,246
|G,90)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3225):
CCAAGACGTCAAGTCGGGGAACTCCAACATTGGGGTGTCCAGAAACACTGGGGTTTCAGGCGCTCTGTAAATGCGTCCGAGGTCCGCGGTTCTGCCCGCA
R
GCCCAGACCCCGGCCTCACTTCCGCCCCGCGCCCCGCGCCCCGGCCTCACGTCCCGCCCGCGGCAGGCCTGTGGGCTGCGAGGAGGAGCTTTGCCTAGCT
Celera SNP ID:                hCV1361991
SNP Position Transcript:      371
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3226):
ATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCT
Y
TGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGA
Celera SNP ID:                hCV31882845
SNP Position Transcript:      1493
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:424, 328,(S,TCT) (F,TTT)



Context              (SEQ ID NO:3227):
CAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCATTTTGACAAAGAGATTGTACCAGTTTTGGTGTCAACTAGAA
R
AGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGA
Celera SNP ID:                hCV1361979
SNP Position Transcript:      1142
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,22)  african american(A,24|G,8)  total(A,42|G,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:424, 211,(K,AAA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2406|G,530) ; no_pop(A,6|G,2) ; no_pop(A,-|G,-) ; no_pop(A,42
0|G,260)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:424, 211,(K,AAA) (R,AGA)



Context              (SEQ ID NO:3228):
GCCCCTCACGCGAGCGAATGACTGGCGCCAGGAGAAACGCATAGGACCTCCCGAAGCCGCCGAGAGCAAAAGGACCCATCAGAGCTGTGCTGAGACCCGC
Y
GCGGGCCGGGCTCGCACTCGAGATTCTCGCCCGTGGGATTCCAGTCCTGAGCTGAACGAGAGATAAGTCTTTGTCACCCCCCAGTCTTTACTGTTTCGAG
Celera SNP ID:                hCV16179968
SNP Position Transcript:      143
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3229):
CTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGG
R
CTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAA
Celera SNP ID:                hCV1361976
SNP Position Transcript:      1329
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,16|G,24)  african american(A,7|G,27)  total(A,23|G,51)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:424, 273,(G,GGG) (G,GGA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,134|A,50) ; no_pop(G,8|A,6) ; no_pop(G,560|A,1528)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:424, 273,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3230):
TAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGT
Y
GTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAA
Celera SNP ID:                hCV11920273
SNP Position Transcript:      1293
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,29|T,5)  total(C,65|T,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:424, 261,(V,GTC) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:424, 261,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3231):
TGAAATCAGAGGACCAAAGTACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCA
M
GGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTT
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1869
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,29|C,3)  african american(A,21|C,5)  total(A,50|C,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,36|C,4)  african american(A,29|C,5)  total(A,65|C,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,438|C,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3232):
TACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCAT
Y
TAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGG
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1888
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3233):
TTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCA
W
TAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAATAAGATCATCAATTCGAAGAA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      1927
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None



Context              (SEQ ID NO:3234):
TTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCAT
W
AAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAATAAGATCATCAATTCGAAGAA
Celera SNP ID:                hCV27040077
SNP Position Transcript:      1928
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:424, None



Gene Number:                  65
Celera Gene:                  hCG34031 - 104000117737765
Celera Transcript:            hCT25231 - 104000117737780
Public Transcript Accession:  NM_005891
Celera Protein:               hCP46929 - 197000069408594
Public Protein Accession:     NP_005882
Gene Symbol:                  ACAT2
Protein Name:                  acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolas
e)

Celera Genomic Axis:          GA_x54KRFTF0F9(10863787..10895444)
Chromosome:                   6
OMIM NUMBER:                  100678
OMIM Information:             ?ACAT2 deficiency (1)


Transcript Sequence  (SEQ ID NO:164):
GTCCCGCCCGCGGCAGGCCTGTGGGCTGCGAGGAGGAGCTTTGCCTAGCTTGCAGGCAGCGCAGGGCAGACGGCGGCAGGAGAAGCAAGATGAATGCAGG
CTCAGATCCTGTGGTCATCGTCTCGGCGGCGCGGACCATCATAGGTTCCTTCAATGGTGCCTTAGCTGCTGTTCCTGTCCAGGACCTGGGCTCCACTGTC
ATCAAAGAAGTCTTGAAGAGGGCCACTGTGGCTCCGGAAGATGTGTCTGAGGTCATCTTTGGACATGTCTTGGCAGCAGGCTGTGGGCAGAATCCTGTTA
GACAAGCCAGTGTGGGTGCAGGAATTCCCTACTCTGTTCCAGCATGGAGCTGCCAGATGATCTGTGGGTCAGGCCTAAAAGCTGTGTGCCTTGCAGTCCA
GTCAATAGGGATAGGAGACTCCAGCATTGTGGTTGCAGGAGGCATGGAAAATATGAGCAAGGCTCCTCACTTGGCTTACTTGAGAACAGGAGTAAAGATA
GGTGAGATGCCACTGACTGACAGTATACTCTGTGATGGTCTTACAGATGCATTTCACAACTGTCATATGGGTATTACAGCTGAAAATGTAGCCAAAAAAT
GGCAAGTGAGTAGAGAAGATCAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCATTTTGACAAAGAGATTGTACC
AGTTTTGGTGTCAACTAGAAAAGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCCATGTCCAAGCTAAAGCCTTAC
TTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTATGAAGAAGTCAGAAGCTGATA
AACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACCAATTCCAGCCATAAAGCAAGC
TGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCTCTGCTGCAATAGTTAAAGAACTTGGATTA
AACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTGTGACCCTGTTACACACACTGG
AGAGAATGGGCAGAAGTCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGAATGAATTGCTTAAACTTTGAA
CAACCTCAATTTCTTTTTAAACTAATAAAGTACTAGGTTGCAATATGTGAAATCAGAGGACCAAAGTACAGATGGAAACCATTTCCTACATCACAAAAAC
CCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATC
AATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAATAAGATCATCAATTCGAAGAA


Protein Sequence     (SEQ ID NO:425):
MNAGSDPVVIVSAARTIIGSFNGALAAVPVQDLGSTVIKEVLKRATVAPEDVSEVIFGHVLAAGCGQNPVRQASVGAGIPYSVPAWSCQMICGSGLKAVC
LAVQSIGIGDSSIVVAGGMENMSKAPHLAYLRTGVKIGEMPLTDSILCDGLTDAFHNCHMGITAENVAKKWQVSREDQDKVAVLSQNRTENAQKAGHFDK
EIVPVLVSTRKGLIEVKTDEFPRHGSNIEAMSKLKPYFLTDGTGTVTPANASGINDGAAAVVLMKKSEADKRGLTPLARIVSWSQVGVEPSIMGIGPIPA
IKQAVTKAGWSLEDVDIFEINEAFAAVSAAIVKELGLNPEKVNIEGGAIALGHPLGASGCRILVTLLHTLERMGRSRGVAALCIGGGMGIAMCVQRE*



SNP Information


Context              (SEQ ID NO:3235):
AATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGAATTCTTGTGACCCTGTTACACACACTGGAGAGAATGGGCAGAA
R
TCGTGGTGTTGCAGCCCTGTGCATTGGGGGTGGGATGGGAATAGCAATGTGTGTTCAGAGAGAATGAATTGCTTAAACTTTGAACAACCTCAATTTCTTT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      1216
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:425, 376,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3236):
GAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGT
Y
TCTGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTC
Celera SNP ID:                hCV31882846
SNP Position Transcript:      1070
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:425, 327,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3237):
ATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAAAAGCAGGTTGGTCACTGGAAGATGTTGACATATTTGAAATCAATGAAGCCTTTGCAGCTGTCT
Y
TGCTGCAATAGTTAAAGAACTTGGATTAAACCCAGAGAAGGTCAATATTGAAGGAGGGGCTATAGCCTTGGGCCACCCTCTTGGAGCATCTGGCTGTCGA
Celera SNP ID:                hCV31882845
SNP Position Transcript:      1072
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:425, 328,(S,TCT) (F,TTT)



Context              (SEQ ID NO:3238):
CAGGACAAGGTTGCAGTTCTGTCCCAGAACAGGACAGAGAATGCACAGAAAGCTGGCCATTTTGACAAAGAGATTGTACCAGTTTTGGTGTCAACTAGAA
R
AGGTCTTATTGAAGTTAAAACAGATGAGTTTCCTCGCCATGGGAGCAACATAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGA
Celera SNP ID:                hCV1361979
SNP Position Transcript:      721
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|G,22)  african american(A,24|G,8)  total(A,42|G,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:425, 211,(K,AAA) (R,AGA)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2406|G,530) ; no_pop(A,6|G,2) ; no_pop(A,-|G,-) ; no_pop(A,42
0|G,260)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:425, 211,(K,AAA) (R,AGA)



Context              (SEQ ID NO:3239):
CTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGTCGTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGG
R
CTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAATAGGACCAATTCCAGCCATAAAGCAAGCTGTTACAA
Celera SNP ID:                hCV1361976
SNP Position Transcript:      908
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,16|G,24)  african american(A,7|G,27)  total(A,23|G,51)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:425, 273,(G,GGG) (G,GGA)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,134|A,50) ; no_pop(G,8|A,6) ; no_pop(G,560|A,1528)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:425, 273,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3240):
TAGAAGCCATGTCCAAGCTAAAGCCTTACTTTCTTACTGATGGAACGGGAACAGTCACCCCAGCCAATGCTTCAGGAATAAATGATGGTGCTGCAGCTGT
Y
GTTCTTATGAAGAAGTCAGAAGCTGATAAACGTGGGCTTACACCTTTAGCACGGATAGTTTCCTGGTCCCAAGTGGGTGTGGAGCCTTCCATTATGGGAA
Celera SNP ID:                hCV11920273
SNP Position Transcript:      872
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,29|T,5)  total(C,65|T,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:425, 261,(V,GTC) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:425, 261,(V,GTC) (V,GTT)



Context              (SEQ ID NO:3241):
TGAAATCAGAGGACCAAAGTACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCA
M
GGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTT
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1448
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,29|C,3)  african american(A,21|C,5)  total(A,50|C,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,36|C,4)  african american(A,29|C,5)  total(A,65|C,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,438|C,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None



Context              (SEQ ID NO:3242):
TACAGATGGAAACCATTTCCTACATCACAAAAACCCAAGTTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCAT
Y
TAACATTGTTATAAATAAAAGGAACATCAGATCAATCATTAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGG
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1467
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None



Context              (SEQ ID NO:3243):
TTTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCA
W
TAAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAATAAGATCATCAATTCGAAGAA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      1506
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None



Context              (SEQ ID NO:3244):
TTACAGCTTGTACTTTACTTTAATGTGTAATACTCAACTCAAGGTACAAGACAATTGCATTTAACATTGTTATAAATAAAAGGAACATCAGATCAATCAT
W
AAGGGCTCCAGAGTGAACAGCATCTTCATAACTTCCATGTTTATCATCTTTACTTTCTGGATGTAATTTAATAAGATCATCAATTCGAAGAA
Celera SNP ID:                hCV27040077
SNP Position Transcript:      1507
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:425, None



Gene Number:                  66
Celera Gene:                  hCG2029801 - 104000117735079
Celera Transcript:            hCT2330534 - 104000117735096
Public Transcript Accession:  NM_030752
Celera Protein:               hCP1875347 - 197000069408611
Public Protein Accession:     NP_110379
Gene Symbol:                  TCP1
Protein Name:                  t-complex 1
Celera Genomic Axis:          GA_x54KRFTF0F9(10855195..10888370)
Chromosome:                   6
OMIM NUMBER:                  186980
OMIM Information:


Transcript Sequence  (SEQ ID NO:165):
GACGTGTATCGCTGCCGTCAAGATGGAGGGGCCTTTGTCCGTGTTCGGTGACCGCAGCACTGGGGAAACGATCCGCTCCCAAAACGGCATGCCCAAGAGA
ATCGTAAATGCAAAAATTGCTTGCCTTGACTTCAGCCTGCAAAAAACAAAAATGAAGCTTGGTGTACAGGTGGTCATTACAGACCCTGAAAAACTGGACC
AAATTAGACAGAGAGAATCAGATATCACCAAGGAGAGAATTCAGAAGATCCTGGCAACTGGTGCCAATGTTATTCTAACCACTGGTGGAATTGATGATAT
GTGTCTGAAGTATTTTGTGGAGGCTGGTGCTATGGCAGTTAGAAGAGTTTTAAAAAGGGACCTTAAACGCATTGCCAAAGCTTCTGGAGCAACTATTCTG
TCAACCCTGGCCAATTTGGAAGGTGAAGAAACTTTTGAAGCTGCAATGTTGGGACAGGCAGAAGAAGTGGTACAGGAGAGAATTTGTGATGATGAGCTGA
TCTTAATCAAAAATTGTGTAGTGAAGAGAGTTTTGGAGTCAAAATCTGTGGTTCCCGGTGGGGGTGCTGTAGAAGCAGCCCTTTCCATATACCTTGAAAA
CTATGCAACCAGCATGGGGTCTCGGGAACAGCTTGCGATTGCAGAGTTTGCAAGATCACTTCTTGTTATTCCCAATACACTAGCAGTTAATGCTGCCCAG
GACTCCACAGATCTGGTTGCAAAATTAAGAGCTTTTCATAATGAGGCCCAGGTTAACCCAGAACGTAAAAATCTAAAATGGATTGGTCTTGATTTGAGCA
ATGGTAAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATCACCATTCT
TCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCT
GATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTT
TGTGATGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCACATATTGCAACCTAGTACTTTATTAGTTTAAAAAGAAATTGAGGTTGTTCAA
AGTTTAAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGACTTCTGCCCATTCTCTCCAGT
GTGTGTAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATTGACGGTCCTATTCCCATAAT
GGAAGGCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAGCCCACGTTTATCAGCTTCTGACTTCTTCATAAGAACGACAGCTGCA
GCACCATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTATGTTGCTCC
CATGGCGAGGAAACTCATCTGTTTTAACTTCAATAAGACCTTTTCTAGTTGACACCAAAACTGGTACAATCTCTTTGTCAAAATGGCCAGCTTTCTGTGC
ATTCTCTGTCCTGTTCTGGGACAGAACTGCAACCTTGTCCTGATCTTCTCTACTCACTTGCCATTTTTTGGCTACATTTTCAGCTGTAATACCCATATGA
CAGTTGTGAAATGCATCTGTAAGACCATCACAGAGTATACTGTCAGTCAGTGGCATCTCACCTATCTTTACTCCTGTTCTCAAGTAAGCCAAGT


Protein Sequence     (SEQ ID NO:426):
MEGPLSVFGDRSTGETIRSQNGMPKRIVNAKIACLDFSLQKTKMKLGVQVVITDPEKLDQIRQRESDITKERIQKILATGANVILTTGGIDDMCLKYFVE
AGAMAVRRVLKRDLKRIAKASGATILSTLANLEGEETFEAAMLGQAEEVVQERICDDELILIKNCVVKRVLESKSVVPGGGAVEAALSIYLENYATSMGS
REQLAIAEFARSLLVIPNTLAVNAAQDSTDLVAKLRAFHNEAQVNPERKNLKWIGLDLSNGKPRDNKQAGVFEPTIVKVKSLKFATEAAITILRIDDLIK
LHPESKDDKHGSYEDAVHSGALND*



SNP Information


Context              (SEQ ID NO:3245):
TTTGAGCAATGGTAAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATC
M
CCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGA
Celera SNP ID:                hCV27508778
SNP Position Transcript:      893
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:426, 291,(T,ACC) (P,CCC)



Context              (SEQ ID NO:3246):
ATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTA
W
TGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      990
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:426, 323,(N,AAT) (I,ATT)



Context              (SEQ ID NO:3247):
AATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTT
W
ATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAA
Celera SNP ID:                hCV27040077
SNP Position Transcript:      989
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:426, 323,(N,AAT) (Y,TAT)



Context              (SEQ ID NO:3248):
CCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTA
R
ATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTA
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1029
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Context              (SEQ ID NO:3249):
AACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACC
K
TGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCA
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1048
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,29|G,3)  african american(T,21|G,5)  total(T,50|G,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|G,4)  african american(T,29|G,5)  total(T,65|G,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,438|G,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Context              (SEQ ID NO:3250):
AAAGAAATTGAGGTTGTTCAAAGTTTAAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGA
Y
TTCTGCCCATTCTCTCCAGTGTGTGTAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      1280
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Context              (SEQ ID NO:3251):
AAGGCTATAGCCCCTCCTTCAATATTGACGGTCCTATTCCCATAATGGAAGGCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAG
Y
CCACGTTTATCAGCTTCTGACTTCTTCATAAGAACGACAGCTGCAGCACCATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAG
Celera SNP ID:                hCV1361976
SNP Position Transcript:      1455
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,16|C,24)  african american(T,7|C,27)  total(T,23|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,134|T,50) ; no_pop(C,8|T,6) ; no_pop(C,560|T,1528)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Context              (SEQ ID NO:3252):
TTCCCATAATGGAAGGCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAGCCCACGTTTATCAGCTTCTGACTTCTTCATAAGAAC
R
ACAGCTGCAGCACCATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTA
Celera SNP ID:                hCV11920273
SNP Position Transcript:      1491
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,4)  african american(G,29|A,5)  total(G,65|A,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Context              (SEQ ID NO:3253):
TCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTATGTTGCTCCCATGGCGAGGAAACTCATCTGTTTTAACTTCAATAAGACCT
Y
TTCTAGTTGACACCAAAACTGGTACAATCTCTTTGTCAAAATGGCCAGCTTTCTGTGCATTCTCTGTCCTGTTCTGGGACAGAACTGCAACCTTGTCCTG
Celera SNP ID:                hCV1361979
SNP Position Transcript:      1642
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,18|C,22)  african american(T,24|C,8)  total(T,42|C,30)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2406|C,530) ; no_pop(T,6|C,2) ; no_pop(T,-|C,-) ; no_pop(T,42
0|C,260)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:426, None



Gene Number:                  66
Celera Gene:                  hCG2029801 - 104000117735079
Celera Transcript:            hCT2330536 - 104000117735080
Public Transcript Accession:  NM_001008897
Celera Protein:               hCP1875346 - 197000069408610
Public Protein Accession:     NP_001008897
Gene Symbol:                  TCP1
Protein Name:                  t-complex 1
Celera Genomic Axis:          GA_x54KRFTF0F9(10855195..10888370)
Chromosome:                   6
OMIM NUMBER:                  186980
OMIM Information:


Transcript Sequence  (SEQ ID NO:166):
CCTGTTGTCCCTGCCTCTTTTTCCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGG
ACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCG
ACGTGTATCGCTGCCGTCAAGATGGAGGGGCCTTTGTCCGTGTTCGGTGACCGCAGCACTGGGGAAACGATCCGCTCCCAAAACGTTATGGCTGCAGCTT
CGATTGCCAATATTGTAAAAAGTTCTCTTGGTCCAGTTGGCTTGGATAAAATGTTGGTGGATGATATTGGTGATGTAACCATTACTAACGATGGTGCAAC
CATCCTGAAGTTACTGGAGGTAGAACATCCTGCAGCTAAAGTTCTTTGTGAGCTGGCTGATCTGCAAGACAAAGAAGTTGGAGATGGAACTACTTCAGTG
GTTATTATTGCAGCAGAACTCCTAAAAAATGCAGATGAATTAGTCAAACAGAAAATTCATCCCACATCAGTTATTAGTGGCTATCGACTTGCTTGCAAGG
AAGCAGTGCGTTATATCAATGAAAACCTAATTGTTAACACAGATGAACTGGGAAGAGATTGCCTGATTAATGCTGCTAAGACATCCATGTCTTCCAAAAT
CATTGGAATAAATGGTGATTTCTTTGCTAACATGGTAGTAGATGCTGTACTTGCTATTAAATACACAGACATAAGAGGCCAGCCACGCTATCCAGTCAAC
TCTGTTAATATTTTGAAAGCCCATGGGAGAAGTCAAATGGAGAGTATGCTCATCAGTGGCTATGCACTCAACTGTGTGGTGGGATCCCAGGGCATGCCCA
AGAGAATCGTAAATGCAAAAATTGCTTGCCTTGACTTCAGCCTGCAAAAAACAAAAATGAAGCTTGGTGTACAGGTGGTCATTACAGACCCTGAAAAACT
GGACCAAATTAGACAGAGAGAATCAGATATCACCAAGGAGAGAATTCAGAAGATCCTGGCAACTGGTGCCAATGTTATTCTAACCACTGGTGGAATTGAT
GATATGTGTCTGAAGTATTTTGTGGAGGCTGGTGCTATGGCAGTTAGAAGAGTTTTAAAAAGGGACCTTAAACGCATTGCCAAAGCTTCTGGAGCAACTA
TTCTGTCAACCCTGGCCAATTTGGAAGGTGAAGAAACTTTTGAAGCTGCAATGTTGGGACAGGCAGAAGAAGTGGTACAGGAGAGAATTTGTGATGATGA
GCTGATCTTAATCAAAAATACTAAGGCTCGTACGTCTGCATCGATTATCTTACGTGGGGCAAATGATTTCATGTGTGATGAGATGGAGCGCTCTTTACAT
GATGCACTTTGTGTAGTGAAGAGAGTTTTGGAGTCAAAATCTGTGGTTCCCGGTGGGGGTGCTGTAGAAGCAGCCCTTTCCATATACCTTGAAAACTATG
CAACCAGCATGGGGTCTCGGGAACAGCTTGCGATTGCAGAGTTTGCAAGATCACTTCTTGTTATTCCCAATACACTAGCAGTTAATGCTGCCCAGGACTC
CACAGATCTGGTTGCAAAATTAAGAGCTTTTCATAATGAGGCCCAGGTTAACCCAGAACGTAAAAATCTAAAATGGATTGGTCTTGATTTGAGCAATGGT
AAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATCACCATTCTTCGAA
TTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGT
TCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGA
TGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCACATATTGCAACCTAGTACTTTATTAGTTTAAAAAGAAATTGAGGTTGTTCAAAGTTT
AAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGACTTCTGCCCATTCTCTCCAGTGTGTG
TAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATTGACCTAGCGGGGGAGAAAAGATTTA
GATTGTTTATTCTTCTGTGGACACAGTTTAAAATCTTAAACTTGTCTTTTTCCTCTTAATGTATCAGCATGCTACCCTTTCAAACTCAAATTTTCATTTT
AACTGCTTAGGAATAAATTTACACCTTTGTGAAAATTCA


Protein Sequence     (SEQ ID NO:427):
MEGPLSVFGDRSTGETIRSQNVMAAASIANIVKSSLGPVGLDKMLVDDIGDVTITNDGATILKLLEVEHPAAKVLCELADLQDKEVGDGTTSVVIIAAEL
LKNADELVKQKIHPTSVISGYRLACKEAVRYINENLIVNTDELGRDCLINAAKTSMSSKIIGINGDFFANMVVDAVLAIKYTDIRGQPRYPVNSVNILKA
HGRSQMESMLISGYALNCVVGSQGMPKRIVNAKIACLDFSLQKTKMKLGVQVVITDPEKLDQIRQRESDITKERIQKILATGANVILTTGGIDDMCLKYF
VEAGAMAVRRVLKRDLKRIAKASGATILSTLANLEGEETFEAAMLGQAEEVVQERICDDELILIKNTKARTSASIILRGANDFMCDEMERSLHDALCVVK
RVLESKSVVPGGGAVEAALSIYLENYATSMGSREQLAIAEFARSLLVIPNTLAVNAAQDSTDLVAKLRAFHNEAQVNPERKNLKWIGLDLSNGKPRDNKQ
AGVFEPTIVKVKSLKFATEAAITILRIDDLIKLHPESKDDKHGSYEDAVHSGALND*



SNP Information


Context              (SEQ ID NO:3254):
TTTGAGCAATGGTAAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATC
M
CCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGA
Celera SNP ID:                hCV27508778
SNP Position Transcript:      1788
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:427, 523,(T,ACC) (P,CCC)



Context              (SEQ ID NO:3255):
ATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTA
W
TGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      1885
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:427, 555,(N,AAT) (I,ATT)



Context              (SEQ ID NO:3256):
CAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCG
S
CCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGATGGAGGGGCCTTTGTCCGTGTTCGGTGACCGCA
Celera SNP ID:                hCV27837201
SNP Position Transcript:      155
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|C,0)  african american(G,34|C,2)  total(G,62|C,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3257):
CCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCAC
R
CCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGAT
Celera SNP ID:                hCV15842384
SNP Position Transcript:      123
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,1)  african american(G,22|A,0)  total(G,51|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,37|A,1)  total(G,70|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3258):
CTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCACG
Y
CGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGATG
Celera SNP ID:                hCV25983930
SNP Position Transcript:      124
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,1|C,23)  total(T,1|C,53)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,1|C,37)  total(T,1|C,71)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3259):
CCTGTTGTCCCTGCCTCTTTTTCCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTA
K
CTCCTGGGACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGC
Celera SNP ID:                hCV25983880
SNP Position Transcript:      92
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,27)  african american(T,1|G,27)  total(T,4|G,54)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3260):
AATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTT
W
ATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAA
Celera SNP ID:                hCV27040077
SNP Position Transcript:      1884
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:427, 555,(N,AAT) (Y,TAT)



Context              (SEQ ID NO:3261):
CCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTA
R
ATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTA
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1924
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3262):
AACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACC
K
TGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCA
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1943
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,29|G,3)  african american(T,21|G,5)  total(T,50|G,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|G,4)  african american(T,29|G,5)  total(T,65|G,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,438|G,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3263):
AAAGAAATTGAGGTTGTTCAAAGTTTAAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGA
Y
TTCTGCCCATTCTCTCCAGTGTGTGTAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      2175
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None



Context              (SEQ ID NO:3264):
CCATTCTCTCCAGTGTGTGTAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATTGACCTA
R
CGGGGGAGAAAAGATTTAGATTGTTTATTCTTCTGTGGACACAGTTTAAAATCTTAAACTTGTCTTTTTCCTCTTAATGTATCAGCATGCTACCCTTTCA
Celera SNP ID:                hCV1361973
SNP Position Transcript:      2282
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,10|A,8) ; no_pop(G,-|A,-) ; no_pop(G,702
|A,378) ; no_pop(G,640|A,320)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:427, None



Gene Number:                  66
Celera Gene:                  hCG2029801 - 104000117735079
Celera Transcript:            hCT2330539 - 104000117735111
Public Transcript Accession:  NM_001008897
Celera Protein:               hCP1875348 - 197000069408612
Public Protein Accession:     NP_001008897
Gene Symbol:                  TCP1
Protein Name:                  t-complex 1
Celera Genomic Axis:          GA_x54KRFTF0F9(10855195..10888370)
Chromosome:                   6
OMIM NUMBER:                  186980
OMIM Information:


Transcript Sequence  (SEQ ID NO:167):
CCTGTTGTCCCTGCCTCTTTTTCCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGG
ACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCG
ACGTGTATCGCTGCCGTCAAGATGGAGGGGCCTTTGTCCGTGTTCGGTGACCGCAGCACTGGGGAAACGATCCGCTCCCAAAACGTTATGGCTGCAGCTT
CGATTGCCAATATTGTAAAAAGTTCTCTTGGTCCAGTTGGCTTGGATAAAATGTTGGTGGATGATATTGGTGATGTAACCATTACTAACGATGGTGCAAC
CATCCTGAAGTTACTGGAGGTAGAACATCCTGCAGCTAAAGTTCTTTGTGAGCTGGCTGATCTGCAAGACAAAGAAGTTGGAGATGGAACTACTTCAGTG
GTTATTATTGCAGCAGAACTCCTAAAAAATGCAGATGAATTAGTCAAACAGAAAATTCATCCCACATCAGTTATTAGTGGCTATCGACTTGCTTGCAAGG
AAGCAGTGCGTTATATCAATGAAAACCTAATTGTTAACACAGATGAACTGGGAAGAGATTGCCTGATTAATGCTGCTAAGACATCCATGTCTTCCAAAAT
CATTGGAATAAATGGTGATTTCTTTGCTAACATGGTAGTAGATGCTGTACTTGCTATTAAATACACAGACATAAGAGGCCAGCCACGCTATCCAGTCAAC
TCTGTTAATATTTTGAAAGCCCATGGGAGAAGTCAAATGGAGAGTATGCTCATCAGTGGCTATGCACTCAACTGTGTGGTGGGATCCCAGGGCATGCCCA
AGAGAATCGTAAATGCAAAAATTGCTTGCCTTGACTTCAGCCTGCAAAAAACAAAAATGAAGCTTGGTGTACAGGTGGTCATTACAGACCCTGAAAAACT
GGACCAAATTAGACAGAGAGAATCAGATATCACCAAGGAGAGAATTCAGAAGATCCTGGCAACTGGTGCCAATGTTATTCTAACCACTGGTGGAATTGAT
GATATGTGTCTGAAGTATTTTGTGGAGGCTGGTGCTATGGCAGTTAGAAGAGTTTTAAAAAGGGACCTTAAACGCATTGCCAAAGCTTCTGGAGCAACTA
TTCTGTCAACCCTGGCCAATTTGGAAGGTGAAGAAACTTTTGAAGCTGCAATGTTGGGACAGGCAGAAGAAGTGGTACAGGAGAGAATTTGTGATGATGA
GCTGATCTTAATCAAAAATACTAAGGCTCGTACGTCTGCATCGATTATCTTACGTGGGGCAAATGATTTCATGTGTGATGAGATGGAGCGCTCTTTACAT
GATGCACTTTGTGTAGTGAAGAGAGTTTTGGAGTCAAAATCTGTGGTTCCCGGTGGGGGTGCTGTAGAAGCAGCCCTTTCCATATACCTTGAAAACTATG
CAACCAGCATGGGGTCTCGGGAACAGCTTGCGATTGCAGAGTTTGCAAGATCACTTCTTGTTATTCCCAATACACTAGCAGTTAATGCTGCCCAGGACTC
CACAGATCTGGTTGCAAAATTAAGAGCTTTTCATAATGAGGCCCAGGTTAACCCAGAACGTAAAAATCTAAAATGGATTGGTCTTGATTTGAGCAATGGT
AAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATCACCATTCTTCGAA
TTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGT
TCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGA
TGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCACATATTGCAACCTAGTACTTTATTAGTTTAAAAAGAAATTGAGGTTGTTCAAAGTTT
AAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGACTTCTGCCCATTCTCTCCAGTGTGTG
TAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATTGACGGTCCTATTCCCATAATGGAAG
GCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAGCCCACGTTTATCAGCTTCTGACTTCTTCATAAGAACGACAGCTGCAGCACC
ATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTATGTTGCTCCCATGG
CGAGGAAACTCATCTGTTTTAACTTCAATAAGACCTTTTCTAGTTGACACCAAAACTGGTACAATCTCTTTGTCAAAATGGCCAGCTTTCTGTGCATTCT
CTGTCCTGTTCTGGGACAGAACTGCAACCTTGTCCTGATCTTCTCTACTCACTTGCCATTTTTTGGCTACATTTTCAGCTGTAATACCCATATGACAGTT
GTGAAATGCATCTGTAAGACCATCACAGAGTATACTGTCAGTCAGTGGCATCTCACCTATCTTTACTCCTGTTCTCAAGTAAGCCAAGT


Protein Sequence     (SEQ ID NO:428):
MEGPLSVFGDRSTGETIRSQNVMAAASIANIVKSSLGPVGLDKMLVDDIGDVTITNDGATILKLLEVEHPAAKVLCELADLQDKEVGDGTTSVVIIAAEL
LKNADELVKQKIHPTSVISGYRLACKEAVRYINENLIVNTDELGRDCLINAAKTSMSSKIIGINGDFFANMVVDAVLAIKYTDIRGQPRYPVNSVNILKA
HGRSQMESMLISGYALNCVVGSQGMPKRIVNAKIACLDFSLQKTKMKLGVQVVITDPEKLDQIRQRESDITKERIQKILATGANVILTTGGIDDMCLKYF
VEAGAMAVRRVLKRDLKRIAKASGATILSTLANLEGEETFEAAMLGQAEEVVQERICDDELILIKNTKARTSASIILRGANDFMCDEMERSLHDALCVVK
RVLESKSVVPGGGAVEAALSIYLENYATSMGSREQLAIAEFARSLLVIPNTLAVNAAQDSTDLVAKLRAFHNEAQVNPERKNLKWIGLDLSNGKPRDNKQ
AGVFEPTIVKVKSLKFATEAAITILRIDDLIKLHPESKDDKHGSYEDAVHSGALND*



SNP Information


Context              (SEQ ID NO:3265):
TTTGAGCAATGGTAAACCTCGAGACAACAAACAAGCAGGGGTGTTTGAACCAACCATAGTTAAAGTTAAGAGTTTGAAATTTGCAACAGAAGCTGCAATC
M
CCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGA
Celera SNP ID:                hCV27508778
SNP Position Transcript:      1788
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:428, 523,(T,ACC) (P,CCC)



Context              (SEQ ID NO:3266):
ATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTA
W
TGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAA
Celera SNP ID:                hCV27040078
SNP Position Transcript:      1885
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:428, 555,(N,AAT) (I,ATT)



Context              (SEQ ID NO:3267):
CAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCG
S
CCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGATGGAGGGGCCTTTGTCCGTGTTCGGTGACCGCA
Celera SNP ID:                hCV27837201
SNP Position Transcript:      155
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|C,0)  african american(G,34|C,2)  total(G,62|C,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3268):
CCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCAC
R
CCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGAT
Celera SNP ID:                hCV15842384
SNP Position Transcript:      123
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,1)  african american(G,22|A,0)  total(G,51|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,37|A,1)  total(G,70|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3269):
CTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTAGCTCCTGGGACATCGCTCGGGTACGCTCCACG
Y
CGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGCAGAATTCGACGTGTATCGCTGCCGTCAAGATG
Celera SNP ID:                hCV25983930
SNP Position Transcript:      124
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,1|C,23)  total(T,1|C,53)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,1|C,37)  total(T,1|C,71)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3270):
CCTGTTGTCCCTGCCTCTTTTTCCTTCCCGCCGTGCCCCGCGGCCGGGCCGGGGCAGCCGGGAAGCGGGTGGGGTGGTGTGTTACCCAGTA
K
CTCCTGGGACATCGCTCGGGTACGCTCCACGCCGTCGCAGCCACTGCTGTGGTCGCCGGTCGGCCGAGGGGCCGCGATACTGGTTGCCCGCGGTGTAAGC
Celera SNP ID:                hCV25983880
SNP Position Transcript:      92
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,27)  african american(T,1|G,27)  total(T,4|G,54)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3271):
AATCACCATTCTTCGAATTGATGATCTTATTAAATTACATCCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTT
W
ATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAA
Celera SNP ID:                hCV27040077
SNP Position Transcript:      1884
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:428, 555,(N,AAT) (Y,TAT)



Context              (SEQ ID NO:3272):
CCAGAAAGTAAAGATGATAAACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTA
R
ATGCAATTGTCTTGTACCTTGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTA
Celera SNP ID:                hCV27040079
SNP Position Transcript:      1924
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3273):
AACATGGAAGTTATGAAGATGCTGTTCACTCTGGAGCCCTTAATGATTGATCTGATGTTCCTTTTATTTATAACAATGTTAAATGCAATTGTCTTGTACC
K
TGAGTTGAGTATTACACATTAAAGTAAAGTACAAGCTGTAAACTTGGGTTTTTGTGATGTAGGAAATGGTTTCCATCTGTACTTTGGTCCTCTGATTTCA
Celera SNP ID:                hCV8701914
SNP Position Transcript:      1943
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,29|G,3)  african american(T,21|G,5)  total(T,50|G,8)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|G,4)  african american(T,29|G,5)  total(T,65|G,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,438|G,122)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3274):
AAAGAAATTGAGGTTGTTCAAAGTTTAAGCAATTCATTCTCTCTGAACACACATTGCTATTCCCATCCCACCCCCAATGCACAGGGCTGCAACACCACGA
Y
TTCTGCCCATTCTCTCCAGTGTGTGTAACAGGGTCACAAGAATTCGACAGCCAGATGCTCCAAGAGGGTGGCCCAAGGCTATAGCCCCTCCTTCAATATT
Celera SNP ID:                hCV27464993
SNP Position Transcript:      2175
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3275):
AAGGCTATAGCCCCTCCTTCAATATTGACGGTCCTATTCCCATAATGGAAGGCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAG
Y
CCACGTTTATCAGCTTCTGACTTCTTCATAAGAACGACAGCTGCAGCACCATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAG
Celera SNP ID:                hCV1361976
SNP Position Transcript:      2350
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,16|C,24)  african american(T,7|C,27)  total(T,23|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,134|T,50) ; no_pop(C,8|T,6) ; no_pop(C,560|T,1528)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3276):
TTCCCATAATGGAAGGCTCCACACCCACTTGGGACCAGGAAACTATCCGTGCTAAAGGTGTAAGCCCACGTTTATCAGCTTCTGACTTCTTCATAAGAAC
R
ACAGCTGCAGCACCATCATTTATTCCTGAAGCATTGGCTGGGGTGACTGTTCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTA
Celera SNP ID:                hCV11920273
SNP Position Transcript:      2386
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,4)  african american(G,29|A,5)  total(G,65|A,9)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Context              (SEQ ID NO:3277):
TCCCGTTCCATCAGTAAGAAAGTAAGGCTTTAGCTTGGACATGGCTTCTATGTTGCTCCCATGGCGAGGAAACTCATCTGTTTTAACTTCAATAAGACCT
Y
TTCTAGTTGACACCAAAACTGGTACAATCTCTTTGTCAAAATGGCCAGCTTTCTGTGCATTCTCTGTCCTGTTCTGGGACAGAACTGCAACCTTGTCCTG
Celera SNP ID:                hCV1361979
SNP Position Transcript:      2537
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,18|C,22)  african american(T,24|C,8)  total(T,42|C,30)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,2406|C,530) ; no_pop(T,6|C,2) ; no_pop(T,-|C,-) ; no_pop(T,42
0|C,260)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:428, None



Gene Number:                  67
Celera Gene:                  hCG37774 - 104000117648431
Celera Transcript:            hCT29008 - 104000117648432
Public Transcript Accession:  NM_000253
Celera Protein:               hCP48619 - 197000069479734
Public Protein Accession:     NP_000244
Gene Symbol:                  MTP
Protein Name:                  microsomal triglyceride transfer protein (large polypeptide, 88kDa)
Celera Genomic Axis:          GA_x5YUV32W7K2(47612373..47673550)
Chromosome:                   4
OMIM NUMBER:                  157147
OMIM Information:             Abetalipoproteinemia, 200100 (3)


Transcript Sequence  (SEQ ID NO:168):
ACTCCCTCACTGGCTGCCATTGAAAGAGTCCACTTCTCAGTGACTCCTAGCTGGGCACTGGATGCAGTTGAGGATTGCTGGTCAATATGATTCTTCTTGC
TGTGCTTTTTCTCTGCTTCATTTCCTCATATTCAGCTTCTGTTAAAGGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTAC
TCCACTGAAGTTCTTCTTGATCGGGGCAAAGGAAAACTGCAAGACAGCGTGGGCTACCGCATTTCCTCCAACGTGGATGTGGCCTTACTATGGAGGAATC
CTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCAGAGAGGAGAGAAGAGCATCTTCAAAGGAAA
AAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATAT
CAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTG
GAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATTTACGACCCCAAA
TCAGGTCTTGGGTGTCAGTTCAAAAGCTACATCTGTCACCACCTATAAGATAGAAGACAGCTTTGTTATAGCTGTGCTTGCTGAAGAAACACACAATTTT
GGACTGAATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACAACCGAAGCAGGCCCAAGATTGATGTCTGGAAAGC
AGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCAGTGTAAAGGATGTCCTTCTCTCTC
GGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACT
GCGAAGAAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATTACCTCAGCTGGTGGATGCTGTCACCTCTGCTCAGACCTCAGACTCAT
TAGAAGCCATTTTGGACTTTTTGGATTTCAAAAGTGACAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCTTCTCATCCCAATGA
AGAACTCCTGAGAGCCCTCATTAGTAAGTTCAAAGGTTCTATTGGTAGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAG
TTGTGTCAGAATGAAGGCTGCAAACTCAAAGCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGA
TGTATCTGCTGGCTTTGAAGAATGCCCTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATCAGCCACCTGGCTAC
CACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTGAAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACT
GTGCGCACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGA
ATAAATACATGCTCGCCATTGTTCAAGACATCCTACGTTTTGAAATGCCTGCAAGCAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTA
TGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCG
GGTTCTGGCATTCTAAGGAGAAGTAACCTGAACATCTTTCAGTACATTGGGAAGGCTGGTCTTCACGGTAGCCAGGTGGTTATTGAAGCCCAAGGACTGG
AAGCCTTAATCGCAGCCACCCCTGACGAGGGGGAGGAGAACCTTGACTCCTATGCTGGTATGTCAGCCATCCTCTTTGATGTTCAGCTCAGACCTGTCAC
CTTTTTCAACGGATACAGTGATTTGATGTCCAAAATGCTGTCAGCATCTGGCGACCCTATCAGTGTGGTGAAAGGACTTATTCTGCTAATAGATCATTCT
CAGGAACTTCAGTTACAATCTGGACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGATATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATC
GTGAGTCTAAAACCCGAGTGAAAAATAGGGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGCCTGGAAACCAGTAC
AGAAACAGAAGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCTCAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAGG
CAATTTGAGAAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCAGGATGTGAATTCCCGCTCCATC
AAGAGAACTCAGAGATGTGCAAAGTGGTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGAAACTGACCTGTGATATTTTACTTGAATTT
GTCTCCCCGAAAGGGACACAATGTGGCATGACTAAGTACTTGCTCTCTGAGAGCACAGCGTTTACATATTTACCTGTATTTAAGATTTTTGTAAAAAGCT
ACAAAAAACTGCAGTTTGATCAAATTTGGGTATATGCAGTATGCTACCCACAGCGTCATTTTGAATCATCATGTGACGCTTTCAACAACGTTCTTAGTTT
ACTTATACCTCTCTCAAATCTCATTTGGTACAGTCAGAATAGTTATTCTCTAAGAGGAAACTAGTGTTTGTTAAAAACAAAAATAAAAACAAAACCACAC
AAGGAGAACCCAATTTTGTTTCAACAATTTTTGATCAATGTATATGAAGCTCTTGATAGGACTTCCTTAAGCATGACGGGAAAACCAAACACGTTCCCTA
ATCAGGAAAAAAAAAAAAAAAAAAAGTAAGACACAAACAAACCATTTTTTTTCTCTTTTTTTGGAGTTGGGGGCCCAGGGAGAAGGGACAAGACTTTTAA
AAGACTTGTTAGCCAACTTCAAGAATTAATATTTATGTCTCTGTTATTGTTAGTTTTAAGCCTTAAGGTAGAAGGCACATAGAAATAACATCTCATCTTT
CTGCTGACCATTTTAGTGAGGTTGTTCCAAAGACATTCAGGTCTCTACCTCCAGCCCTGCAAAAATATTGGACCTAGCACAGAGGAATCAGGAAAATTAA
TTTCAGAAACTCCATTTGATTTTTCTTTTGCTGTGTCTTTTTGAGACTGTAATATGGTACACTGTCCTCTAAGGGACATCCTCATTTTATCTCACCTTTT
TGGGGGTGAGAGCTCTAGTTCATTTAACTGTACTCTGCACAATAGCTAGGATGACTAAGAGAACATTGCTTCAAGAAACTGGTGGATTTGGATTTCCAAA
ATATGAAATAAGGAAAAAAATGTTTTTATTTGTATGAATTAAAAGATCCATGTTGAACATTTGCAAATATTTATTAATAAACAGATGTGGTGATAAACCC
AAAACAAATGACAGGTGCTTATTTTCCACTAAACACAGACACATGAAATGAAAGTTTAGCTAGCCCACTATTTGTTGTAAATTGAAAACGAAGTGTGATA
AAATAAATATGTAGAAATC


Protein Sequence     (SEQ ID NO:429):
MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRISSNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKS
IFKGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSG
FTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSQCKG
CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLVDAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFA
SHPNEELLRALISKFKGSIGSSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLLKYAEAGEGPI
SHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQ
LRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKNRVTVVITTDITVDSSFVKAG
LETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQFEKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF*



SNP Information


Context              (SEQ ID NO:3278):
GTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAG
R
TAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATT
Celera SNP ID:                hCV25921533
SNP Position Transcript:      588
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,34)  african american(A,0|G,22)  total(A,2|G,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 168,(V,GTA) (I,ATA)



Context              (SEQ ID NO:3279):
CAGTTCAAAAGCTACATCTGTCACCACCTATAAGATAGAAGACAGCTTTGTTATAGCTGTGCTTGCTGAAGAAACACACAATTTTGGACTGAATTTCCTA
S
AAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACAACCGAAGCAGGCCCAAGATTGATGTCTGGAAAGCAGGCTGCAGCCATAAT
Celera SNP ID:                hDV70662723
SNP Position Transcript:      816
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 244,(Q,CAA) (E,GAA)



Context              (SEQ ID NO:3280):
AGAGTCCACTTCTCAGTGACTCCTAGCTGGGCACTGGATGCAGTTGAGGATTGCTGGTCAATATGATTCTTCTTGCTGTGCTTTTTCTCTGCTTCATTTC
S
TCATATTCAGCTTCTGTTAAAGGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTACTCCACTGAAGTTCTTCTTGATCGGG
Celera SNP ID:                hCV1192275
SNP Position Transcript:      125
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|G,1)  african american(C,30|G,6)  total(C,69|G,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 13,(S,TCC) (S,TCG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,8|G,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 13,(S,TCC) (S,TCG)



Context              (SEQ ID NO:3281):
TGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCAGAGAGGAGA
S
AAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGG
Celera SNP ID:                hCV16195230
SNP Position Transcript:      380
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,2252|C,728) ; no_pop(G,-|C,-) ; no_pop(G,2344|C,440) ; no_pop
(G,230|C,2)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 98,(E,GAG) (D,GAC)



Context              (SEQ ID NO:3282):
AAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCA
R
TGAGGTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCT
Celera SNP ID:                hCV1192261
SNP Position Transcript:      583
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,32|G,0)  african american(A,31|G,5)  total(A,63|G,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 166,(N,AAT) (S,AGT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,2288|G,696) ; no_pop(A,14|G,4) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 166,(N,AAT) (S,AGT)



Context              (SEQ ID NO:3283):
ACGTGGATGTGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATCCAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCA
S
AGAGGAGAGAAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCC
Celera SNP ID:                hCV25616048
SNP Position Transcript:      371
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|G,35)  african american(C,2|G,36)  total(C,3|G,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 95,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:3284):
CCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATATCAAA
R
TGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAAT
Celera SNP ID:                hCV25616049
SNP Position Transcript:      505
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,32|G,0)  african american(A,37|G,1)  total(A,69|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 140,(N,AAT) (S,AGT)



Context              (SEQ ID NO:3285):
ACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGATATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATCGTGAGTCTAAAACCCGAGTGAAA
W
ATAGGGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGCCTGGAAACCAGTACAGAAACAGAAGCAGGCTTGGAGTT
Celera SNP ID:                hCV27863119
SNP Position Transcript:      2424
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 780,(N,AAT) (Y,TAT)



Context              (SEQ ID NO:3286):
GCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTGAAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACTGTGC
R
CACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAA
Celera SNP ID:                hCV568076
SNP Position Transcript:      1705
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 540,(R,CGC) (H,CAC)



Context              (SEQ ID NO:3287):
GCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAATACATGCTCGCCATTGTTCAAGACATCCTACGTTTTGAAATGCCTGCAAGCAAAATTGTCCGT
Y
GAGTTCTGAAGGAAATGGTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGTAGTCCCCGTTCGGC
Celera SNP ID:                hCV568074
SNP Position Transcript:      1869
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:429, 595,(R,CGA) (*,TGA)



Context              (SEQ ID NO:3288):
CAAGGATGAAGCTCCATTCAGGCAATTTGAGAAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCA
K
GATGTGAATTCCCGCTCCATCAAGAGAACTCAGAGATGTGCAAAGTGGTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGAAACTGACC
Celera SNP ID:                hCV568068
SNP Position Transcript:      2679
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:429, 865,(G,GGA) (*,TGA)



Context              (SEQ ID NO:3289):
TTCCTCATATTCAGCTTCTGTTAAAGGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTACTCCACTGAAGTTCTTCTTGAT
S
GGGGCAAAGGAAAACTGCAAGACAGCGTGGGCTACCGCATTTCCTCCAACGTGGATGTGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTT
Celera SNP ID:                hDV70650413
SNP Position Transcript:      222
SNP Source:                   Heart.May
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 46,(R,CGG) (G,GGG)



Context              (SEQ ID NO:3290):
CTCTGCAAAGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGG
Y
CTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCTCATCAAGACAAAG
Celera SNP ID:                hCV1192262
SNP Position Transcript:      539
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,12|T,20)  african american(C,27|T,9)  total(C,39|T,29)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 151,(G,GGC) (G,GGT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,2250|T,1290) ; no_pop(C,10|T,6) ; no_pop(C,-|T,-) ; no_pop(C,
1320|T,732)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 151,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3291):
AGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAATTG
Y
AAAGTGACCTACCAGGCTCATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGATTTACGACCCCAAATCAGGTCT
Celera SNP ID:                hCV1192256
SNP Position Transcript:      608
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1212|C,366) ; no_pop(T,8|C,3) ; no_pop(T,-|C,-) ; no_pop(T,84
3|C,207) ; no_pop(T,456|C,24)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 174,(C,TGT) (C,TGC)



Context              (SEQ ID NO:3292):
GCCCAAGATTGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCA
S
TGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCTGAGGCTGTCAGAAACTTCCTGG
Celera SNP ID:                hCV16195242
SNP Position Transcript:      977
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1048|C,454) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,82
|C,158)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 297,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:3293):
AAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCAGTGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCAC
M
AGGAAATACCTGCAGCCTGACAACCTTTCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAGAAAGAAGAGATCC
Celera SNP ID:                hCV11352700
SNP Position Transcript:      1019
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|C,39)  african american(A,7|C,31)  total(A,8|C,70)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 311,(T,ACC) (T,ACA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,10|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 311,(T,ACC) (T,ACA)



Context              (SEQ ID NO:3294):
TGGGGCAGGTCTTCCAGAGCCAGTGTAAAGGATGTCCTTCTCTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTTTCCAAGGC
Y
GAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAGAAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATTAC
Celera SNP ID:                hCV25616057
SNP Position Transcript:      1055
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,5|T,35)  african american(C,3|T,35)  total(C,8|T,70)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 323,(A,GCT) (A,GCC)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 323,(A,GCT) (A,GCC)



Context              (SEQ ID NO:3295):
GTCAAGAACATCCTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAATACATGCTCGCCATTGTTCAAGACATCCTACGTTTTGAAATGCCTGCAA
K
CAAAATTGTCCGTCGAGTTCTGAAGGAAATGGTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTACATAGAACGT
Celera SNP ID:                hCV568075
SNP Position Transcript:      1855
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 590,(S,AGC) (I,ATC)



Context              (SEQ ID NO:3296):
GAAAATAAGGAAGTATTACCTCAGCTGGTGGATGCTGTCACCTCTGCTCAGACCTCAGACTCATTAGAAGCCATTTTGGACTTTTTGGATTTCAAAAGTG
M
CAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCTTCTCATCCCAATGAAGAACTCCTGAGAGCCCTCATTAGTAAGTTCAAAGGT
Celera SNP ID:                hCV1192251
SNP Position Transcript:      1237
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,18|C,0)  african american(A,16|C,4)  total(A,34|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 384,(D,GAC) (A,GCC)

SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(A,6|C,4) ; no_pop(A,636|C,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 384,(D,GAC) (A,GCC)



Context              (SEQ ID NO:3297):
AGAAACACACAATTTTGGACTGAATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACAACCGAAGCAGGCCCAAGA
Y
TGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTTGATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCAGTGTAAAGG
Celera SNP ID:                hCV29127191
SNP Position Transcript:      885
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:429, 267,(L,TTG) (L,CTG)



Context              (SEQ ID NO:3298):
TCTACTTACAGCCTAGACATTCTCTACTCGGGTTCTGGCATTCTAAGGAGAAGTAACCTGAACATCTTTCAGTACATTGGGAAGGCTGGTCTTCACGGTA
S
CCAGGTGGTTATTGAAGCCCAAGGACTGGAAGCCTTAATCGCAGCCACCCCTGACGAGGGGGAGGAGAACCTTGACTCCTATGCTGGTATGTCAGCCATC
Celera SNP ID:                hCV29503267
SNP Position Transcript:      2071
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 662,(S,AGC) (T,ACC)



Context              (SEQ ID NO:3299):
TTGATGTCCAAAATGCTGTCAGCATCTGGCGACCCTATCAGTGTGGTGAAAGGACTTATTCTGCTAATAGATCATTCTCAGGAACTTCAGTTACAATCTG
R
ACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGATATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATCGTGAGTCTAAAACCCGAGTGAAA
Celera SNP ID:                hCV568070
SNP Position Transcript:      2323
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 746,(G,GGA) (E,GAA)



Context              (SEQ ID NO:3300):
CAGAGAGGAGAGAAGAGCATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAAAGACCTACGCTCCTTCATCTAA
Y
CCATGGAAAGGTCAAAGAGTTCTACTCATATCAAAATGAGGCAGTGGCCATAGAAAATATCAAGAGAGGCCTGGCTAGCCTATTTCAGACACAGTTAAGC
Celera SNP ID:                hCV22274307
SNP Position Transcript:      469
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|T,26)  african american(C,16|T,22)  total(C,26|T,48)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 128,(I,ATC) (T,ACC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,2502|C,490) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 128,(I,ATC) (T,ACC)



Context              (SEQ ID NO:3301):
TTCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAGAAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAG
S
AAGTATTACCTCAGCTGGTGGATGCTGTCACCTCTGCTCAGACCTCAGACTCATTAGAAGCCATTTTGGACTTTTTGGATTTCAAAAGTGACAGCAGCAT
Celera SNP ID:                hCV11944622
SNP Position Transcript:      1146
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:429, 354,(E,GAA) (Q,CAA)



Context              (SEQ ID NO:3302):
AGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCTCAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAGGCAATTTGAG
W
AAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAAAGCGTATTAGCAGGATGTGAATTCCCGCTCCATCAAGAGAACTC
Celera SNP ID:                hCV568069
SNP Position Transcript:      2610
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:429, 842,(K,AAA) (*,TAA)



Context              (SEQ ID NO:3303):
GTTCAAAGGTTCTATTGGTAGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAGTTGTGTCAGAATGAAGGCTGCAAACTC
W
AAGCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGACTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCCCT
Celera SNP ID:                hCV568077
SNP Position Transcript:      1428
SNP Source:                   HGMD; HapMap
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:429, 448,(K,AAA) (*,TAA)



Context              (SEQ ID NO:3304):
GTTCCCTAATCAGGAAAAAAAAAAAAAAAAAAAGTAAGACACAAACAAACCATTTTTTTTCTCTTTTTTTGGAGTTGGGGGCCCAGGGAGAAGGGACAAG
R
CTTTTAAAAGACTTGTTAGCCAACTTCAAGAATTAATATTTATGTCTCTGTTATTGTTAGTTTTAAGCCTTAAGGTAGAAGGCACATAGAAATAACATCT
Celera SNP ID:                hCV8934122
SNP Position Transcript:      3293
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:429, None



Context              (SEQ ID NO:3305):
GTGTCTTTTTGAGACTGTAATATGGTACACTGTCCTCTAAGGGACATCCTCATTTTATCTCACCTTTTTGGGGGTGAGAGCTCTAGTTCATTTAACTGTA
M
TCTGCACAATAGCTAGGATGACTAAGAGAACATTGCTTCAAGAAACTGGTGGATTTGGATTTCCAAAATATGAAATAAGGAAAAAAATGTTTTTATTTGT
Celera SNP ID:                hCV29127199
SNP Position Transcript:      3633
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:429, None



Context              (SEQ ID NO:3306):
AAAATGTTTTTATTTGTATGAATTAAAAGATCCATGTTGAACATTTGCAAATATTTATTAATAAACAGATGTGGTGATAAACCCAAAACAAATGACAGGT
S
CTTATTTTCCACTAAACACAGACACATGAAATGAAAGTTTAGCTAGCCCACTATTTGTTGTAAATTGAAAACGAAGTGTGATAAAATAAATATGTAGAAA
Celera SNP ID:                hCV8934123
SNP Position Transcript:      3817
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,39|C,53) ; no_pop(G,-|C,-) ; no_pop(G,450|C,90)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:429, None



Gene Number:                  68
Celera Gene:                  hCG38386 - 84000313831863
Celera Transcript:            hCT29627 - 84000313831864
Public Transcript Accession:  NM_014568
Celera Protein:               hCP48601 - 197000064926319
Public Protein Accession:     NP_055383
Gene Symbol:                  GALNT5
Protein Name:                  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl
transferase 5 (GalNAc-T5)

Celera Genomic Axis:          GA_x5YUV32W8UP(37127358..37194704)
Chromosome:                   2
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:169):
CAACTGCTCCTGGAGTGACCTAAGGCCAGTGTTTATCAGAACTTAGCCAGGGCCAGCCAAGCAGGCACAGATGCTCTGCTATGAAATGCCACGCAGGCAG
AGACTGACAAGCGGTAGGAACTGAGCTTTCCCCTTGGACTGCTGCTTCCTGCTGTGTTCAGGGGAGGGGGTCACTTTCTGGCAACTCTGCTGCTGCTGCT
GCTGCTGCTGCTACTTCAGCTTCCTCTCCACTCAAGGTAAGCAGGCTAAGGGAGGGCAGGCTGCTAGGGAAAGCTTTGTACCATGAACAGGATCCGAAAG
TTTTTCCGAGGAAGTGGGCGAGTCTTGGCATTTATCTTTGTAGCTTCTGTCATCTGGCTCCTCTTTGACATGGCAGCTCTCCGCCTCTCATTCAGTGAGA
TCAACACTCGGGTCATCAAGGAAGACATTGTGAGGAGGGAGCGGATAGGATTCAGAGTTCAGCCAGACCAAGGAAAAATTTTTTACAGCAGCATAAAAGA
GATGAAACCTCCCCTAAGGGGACATGGGAAAGGGGCATGGGGCAAAGAGAATGTTAGAAAAACTGAGGAGAGTGTGCTCAAGGTTGAGGTGGACTTGGAC
CAAACCCAGAGGGAAAGAAAAATGCAGAATGCCCTGGGAAGGGGCAAGGTTGTGCCGTTGTGGCATCCTGCACATCTGCAGACCCTCCCTGTGACTCCTA
ACAAGCAGAAGACAGACGGGAGAGGCACCAAACCTGAAGCCTCCTCTCACCAGGGGACACCAAAGCAAACGACAGCTCAGGGGGCTCCAAAGACCTCATT
CATAGCAGCAAAAGGAACTCAGGTAGTCAAAATATCAGTACACATGGGACGTGTCAGTTTAAAACAGGAGCCCCGGAAGAGTCATAGTCCCAGCAGTGAC
ACATCAAAACTAGCAGCTGAAAGGGACTTGAATGTGACCATCAGTCTTAGTACTGATAGACCAAAGCAGCGATCACAGGCAGTAGCAAACGAGAGGGCAC
ACCCTGCCAGCACAGCAGTGCCGAAGTCTGGGGAAGCCATGGCCTTAAACAAAACTAAGACTCAGAGCAAAGAAGTCAATGCAAATAAACACAAAGCCAA
TACGAGTCTTCCTTTTCCTAAGTTCACTGTCAATTCAAATCGCTTAAGGAAGCAATCTATTAATGAGACACCTTTGGGAAGTTTGTCAAAGGATGATGGA
GCTAGAGGGGCTCATGGGAAGAAACTCAATTTCTCTGAAAGCCATCTTGTGATTATAACCAAAGAGGAAGAGCAAAAGGCAGACCCCAAAGAGGTCTCTA
ATTCTAAAACCAAAACAATATTTCCTAAAGTATTGGGTAAAAGCCAAAGTAAACACATTTCCAGGAATAGAAGTGAGATGTCTTCCTCTTCACTTGCTCC
ACATAGAGTGCCACTGTCCCAAACTAACCATGCTTTAACTGGAGGGCTAGAGCCAGCAAAAATCAACATAACTGCCAAAGCCCCCTCTACAGAATACAAC
CAGAGTCATATAAAAGCCCTTTTACCTGAAGACAGTGGAACGCACCAGGTGTTAAGAATTGATGTGACACTTTCTCCAAGGGACCCCAAAGCTCCAGGGC
AGTTTGGGCGTCCTGTAGTTGTCCCCCATGGAAAGGAGAAGGAGGCAGAAAGAAGATGGAAAGAAGGAAACTTCAATGTCTACCTTAGCGATTTGATCCC
AGTGGATAGAGCCATTGAAGACACCAGACCTGCTGGATGTGCAGAGCAGCTAGTTCACAATAACCTCCCAACCACCAGTGTCATCATGTGCTTTGTGGAT
GAAGTGTGGTCCACTCTCCTGAGATCTGTTCACAGTGTCATCAATCGCTCTCCTCCACACCTCATCAAGGAGATTCTGCTGGTAGATGACTTCAGCACCA
AAGACTATCTAAAAGATAATTTGGATAAATACATGTCCCAGTTTCCAAAAGTTCGGATTCTTCGCCTCAAAGAGAGACATGGCTTAATAAGGGCCAGGCT
GGCAGGAGCACAGAATGCAACAGGTGATGTGTTGACATTTTTAGATTCTCATGTGGAATGTAACGTTGGTTGGTTGGAACCTCTTCTGGAAAGAGTTTAT
TTAAGTAGAAAGAAAGTGGCCTGTCCAGTAATCGAAGTCATCAATGATAAGGATATGAGTTACATGACAGTGGATAACTTTCAAAGAGGCATCTTTGTGT
GGCCCATGAACTTTGGTTGGAGAACAATTCCTCCAGATGTCATTGCAAAAAACAGAATTAAAGAAACTGATACAATAAGGTGCCCTGTCATGGCTGGTGG
ATTGTTTTCTATTGACAAAAGTTACTTTTTTGAACTTGGAACATACGACCCTGGCCTTGATGTTTGGGGTGGGGAAAATATGGAGCTCTCATTCAAGGTG
TGGATGTGTGGTGGTGAAATTGAGATCATTCCCTGCTCCCGAGTGGGCCATATATTCAGAAATGACAATCCATATTCCTTCCCCAAAGACCGGATGAAGA
CAGTGGAGCGGAACTTGGTGCGGGTTGCCGAGGTCTGGCTGGATGAGTATAAGGAGCTGTTCTATGGCCACGGAGACCACCTCATCGACCAAGGGCTAGA
TGTTGGCAACCTCACCCAGCAAAGGGAGCTGCGAAAGAAACTGAAGTGCAAAAGTTTCAAATGGTACTTGGAGAATGTCTTTCCTGACTTAAGGGCTCCC
ATTGTGAGAGCTAGTGGTGTGCTTATTAATGTGGCTTTGGGTAAATGCATTTCCATTGAAAACACTACAGTCATTCTGGAAGACTGCGATGGGAGCAAAG
AGCTTCAACAATTTAATTACACCTGGTTAAGACTTATTAAATGTGGAGAATGGTGTATAGCCCCCATCCCTGATAAAGGAGCCGTAAGGCTGCACCCTTG
TGATAACAGAAACAAAGGGCTAAAATGGCTGCATAAATCAACATCAGTCTTTCATCCAGAACTGGTGAATCACATTGTTTTTGAAAACAATCAGCAATTA
TTATGCTTGGAAGGAAATTTTTCTCAAAAGATCCTGAAAGTAGCTGCCTGTGACCCAGTGAAGCCATATCAAAAGTGGAAATTTGAAAAATATTATGAAG
CCTGAAGTGTAACTGATGTTTTTATATAGTAAACCCATTAAATACTGTGAAAATAACACTGAACTTGGAAACTATATTTCTCAGCGGTAGTTTAAATTTT
CAATTTTAATAACATTTGAATGGAAGATTTTTTATAAATCACAATATTTGGAATACCAAAAGATGACTCAGGAAAACAGTCCAACATTGGACTGAAGTCC
TTCTTCGGAACTGGGTGGCCTTTGAATTGCCTGCTTTCCACCCTATGCTAGACCTCATCATGCAAATTTCCCTGTGAAAGCTAACAGGTAACTGGAAATG
AAGACAGAAGGACTTGAGAAAGCATGAGGATATTCCCAATGACTATGTTTGGTAATAATCAGCTCTTCTGGCCCACAAGTAGGAATGATCAATGAGAACT
TAACTTAGTCCTTTATTTGGGGATTTTTTCATCAAACAAAAATTTCTTGAGTTCTTATGGCTAGAAGACCTCAGATGCCCACAGCTGTCACGTTTGTGAA
ATCCCTCCAGACTACATGCATGCTTACCTAACAGTTTGAAATAGTATTGATCTACTGCTGGTAACCCTGCTTGATGGCAGCATTTTGATCTAAATTACAT
AATGGTTTTTCCCAATCTGAATCAGTGGAAAAAAATTTAAGTGAGGAAGAAGAGGCCTTCAAATGCTTATTTAATTCTAGGTATGAACACTATTTCAGTT
CATTTTGTGCTTTTAAAACTACAGTTTTAAAGATTTATGATACCAATAACTTCCTAGATTCATGTGGATTTTTTTTAAGGCAATGAAAAAAGGCTGGATT
ATAACACACTGTAGTAATCAAAAATGCATTTAAGCATTGAATGCACTCTAGTGCAGGGCCAAGTAAGAGGAGTTGAAATGAGTAAAGCAGAAATAGAGCT
GCTGAAAGTTTCTTTTATATAAAAATAATAAAATACTACTTTAGATATAGTAGCATTCACAGGGATGAAATATGCGAAAAATGGGTTCTAAAATATTTCA
AAGGGAAAATGAAGTGAAGGAAACATCATGAAAGGGGAAAGGAATGAGGTAAACAAGTCTTAGGAAGAGAGTTAAGAAAAAATTCCGCTGGACTTGGCCA
AAGAAAGAAGGGGATCTAGTATCTCTATGAAGGAAAAAAGAGTAAAGCCCTCAGTGTGAACCCAGTGAGAACACTGACAAATTTGGGAAAAGTTAAATAC
TGATTTCATCCAAATAAAGCCTCTAATCTTAAGCATACCAATACTTTGGCATACCAGAAGACACCTTAGAAATCAGGATAGCCTTTGCATTCATTTTGGT
AAGAAAACTGATGCTGAGAGGATAAATTACCTAAAAATCTTAAAACCCAGGCAAGTTAGTCAAAGAATCAAGATTAGAATTCAGGTTTCCAGAGACAGGG
CTCATTCTAATGCCTCAGGTCACTGGCCCGAACAAATCTGCTTCACAGAATTCCTTAGAAAGAGATACACAATTCTTTGCTGGGATTGGGTCCCTGGAGG
ACAACCATACTATATTCTTGTTAATATGTTTTTTCTTTTTTTAAATTTAAACTTTTGTTCAGTTGAGATGATTGTGAAACTAGGTATCTTTCATTCTGAC
TCCTAGTTTAACATTTAATTTTGACTCCCAATGAGTTACGTAAAAGCAAAACTATAACTAAGAATGGGAAAAAGAACTATTTCTGCACATTTGTAACATA
TTTAAGATGTTTTCTTCATATAATTGAAAACTGCAGATGAGTAAGAGAATGACTAGGAAATGAGATACAGTTATATGACACATAATGATGTTTTAGTCAA
CAATGAACCACATATTTGACA


Protein Sequence     (SEQ ID NO:430):
MNRIRKFFRGSGRVLAFIFVASVIWLLFDMAALRLSFSEINTRVIKEDIVRRERIGFRVQPDQGKIFYSSIKEMKPPLRGHGKGAWGKENVRKTEESVLK
VEVDLDQTQRERKMQNALGRGKVVPLWHPAHLQTLPVTPNKQKTDGRGTKPEASSHQGTPKQTTAQGAPKTSFIAAKGTQVVKISVHMGRVSLKQEPRKS
HSPSSDTSKLAAERDLNVTISLSTDRPKQRSQAVANERAHPASTAVPKSGEAMALNKTKTQSKEVNANKHKANTSLPFPKFTVNSNRLRKQSINETPLGS
LSKDDGARGAHGKKLNFSESHLVIITKEEEQKADPKEVSNSKTKTIFPKVLGKSQSKHISRNRSEMSSSSLAPHRVPLSQTNHALTGGLEPAKINITAKA
PSTEYNQSHIKALLPEDSGTHQVLRIDVTLSPRDPKAPGQFGRPVVVPHGKEKEAERRWKEGNFNVYLSDLIPVDRAIEDTRPAGCAEQLVHNNLPTTSV
IMCFVDEVWSTLLRSVHSVINRSPPHLIKEILLVDDFSTKDYLKDNLDKYMSQFPKVRILRLKERHGLIRARLAGAQNATGDVLTFLDSHVECNVGWLEP
LLERVYLSRKKVACPVIEVINDKDMSYMTVDNFQRGIFVWPMNFGWRTIPPDVIAKNRIKETDTIRCPVMAGGLFSIDKSYFFELGTYDPGLDVWGGENM
ELSFKVWMCGGEIEIIPCSRVGHIFRNDNPYSFPKDRMKTVERNLVRVAEVWLDEYKELFYGHGDHLIDQGLDVGNLTQQRELRKKLKCKSFKWYLENVF
PDLRAPIVRASGVLINVALGKCISIENTTVILEDCDGSKELQQFNYTWLRLIKCGEWCIAPIPDKGAVRLHPCDNRNKGLKWLHKSTSVFHPELVNHIVF
ENNQQLLCLEGNFSQKILKVAACDPVKPYQKWKFEKYYEA*



SNP Information


Context              (SEQ ID NO:3307):
CATATTCCTTCCCCAAAGACCGGATGAAGACAGTGGAGCGGAACTTGGTGCGGGTTGCCGAGGTCTGGCTGGATGAGTATAAGGAGCTGTTCTATGGCCA
Y
GGAGACCACCTCATCGACCAAGGGCTAGATGTTGGCAACCTCACCCAGCAAAGGGAGCTGCGAAAGAAACTGAAGTGCAAAAGTTTCAAATGGTACTTGG
Celera SNP ID:                hCV25619134
SNP Position Transcript:      2571
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,2304|C,600) ; no_pop(T,-|C,-) ; no_pop(T,220|C,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:430, 763,(H,CAC) (H,CAT)



Context              (SEQ ID NO:3308):
GTCATCAAGGAAGACATTGTGAGGAGGGAGCGGATAGGATTCAGAGTTCAGCCAGACCAAGGAAAAATTTTTTACAGCAGCATAAAAGAGATGAAACCTC
Y
CCTAAGGGGACATGGGAAAGGGGCATGGGGCAAAGAGAATGTTAGAAAAACTGAGGAGAGTGTGCTCAAGGTTGAGGTGGACTTGGACCAAACCCAGAGG
Celera SNP ID:                hCV27471517
SNP Position Transcript:      512
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:430, 77,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3309):
GGTAGGAACTGAGCTTTCCCCTTGGACTGCTGCTTCCTGCTGTGTTCAGGGGAGGGGGTCACTTTCTGGCAACTCTGCTGCTGCTGCTGCTGCTGCTGCT
R
CTTCAGCTTCCTCTCCACTCAAGGTAAGCAGGCTAAGGGAGGGCAGGCTGCTAGGGAAAGCTTTGTACCATGAACAGGATCCGAAAGTTTTTCCGAGGAA
Celera SNP ID:                hCV27836363
SNP Position Transcript:      213
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,29|G,1)  african american(A,26|G,4)  total(A,55|G,5)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:430, None



Context              (SEQ ID NO:3310):
AAAGAAGATGGAAAGAAGGAAACTTCAATGTCTACCTTAGCGATTTGATCCCAGTGGATAGAGCCATTGAAGACACCAGACCTGCTGGATGTGCAGAGCA
S
CTAGTTCACAATAACCTCCCAACCACCAGTGTCATCATGTGCTTTGTGGATGAAGTGTGGTCCACTCTCCTGAGATCTGTTCACAGTGTCATCAATCGCT
Celera SNP ID:                hCV11745746
SNP Position Transcript:      1749
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|G,22)  african american(C,1|G,7)  total(C,1|G,29)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:430, 489,(Q,CAG) (H,CAC)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,8|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:430, 489,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:3311):
ACGGAGACCACCTCATCGACCAAGGGCTAGATGTTGGCAACCTCACCCAGCAAAGGGAGCTGCGAAAGAAACTGAAGTGCAAAAGTTTCAAATGGTACTT
R
GAGAATGTCTTTCCTGACTTAAGGGCTCCCATTGTGAGAGCTAGTGGTGTGCTTATTAATGTGGCTTTGGGTAAATGCATTTCCATTGAAAACACTACAG
Celera SNP ID:                hCV25619133
SNP Position Transcript:      2670
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,1|G,29)  total(A,1|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:430, 796,(L,TTG) (L,TTA)



Context              (SEQ ID NO:3312):
TATTTGGAATACCAAAAGATGACTCAGGAAAACAGTCCAACATTGGACTGAAGTCCTTCTTCGGAACTGGGTGGCCTTTGAATTGCCTGCTTTCCACCCT
R
TGCTAGACCTCATCATGCAAATTTCCCTGTGAAAGCTAACAGGTAACTGGAAATGAAGACAGAAGGACTTGAGAAAGCATGAGGATATTCCCAATGACTA
Celera SNP ID:                hCV15968843
SNP Position Transcript:      3345
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1436|G,36) ; no_pop(A,-|G,-) ; no_pop(A,1032|G,18) ; no_pop(A
,118|G,-)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:430, None



Context              (SEQ ID NO:3313):
TTGGAATACCAAAAGATGACTCAGGAAAACAGTCCAACATTGGACTGAAGTCCTTCTTCGGAACTGGGTGGCCTTTGAATTGCCTGCTTTCCACCCTATG
Y
TAGACCTCATCATGCAAATTTCCCTGTGAAAGCTAACAGGTAACTGGAAATGAAGACAGAAGGACTTGAGAAAGCATGAGGATATTCCCAATGACTATGT
Celera SNP ID:                hCV31158378
SNP Position Transcript:      3348
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:430, None



Context              (SEQ ID NO:3314):
CCCAATCTGAATCAGTGGAAAAAAATTTAAGTGAGGAAGAAGAGGCCTTCAAATGCTTATTTAATTCTAGGTATGAACACTATTTCAGTTCATTTTGTGC
Y
TTTAAAACTACAGTTTTAAAGATTTATGATACCAATAACTTCCTAGATTCATGTGGATTTTTTTTAAGGCAATGAAAAAAGGCTGGATTATAACACACTG
Celera SNP ID:                hCV11635836
SNP Position Transcript:      3811
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:430, None



Gene Number:                  69
Celera Gene:                  hCG38732 - 84000313831386
Celera Transcript:            hCT29977 - 84000313831387
Public Transcript Accession:
Celera Protein:               hCP48600 - 197000064926321
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W8UP(37114599..37133912)
Chromosome:                   2
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:170):
CTCTGCCAGGGAACTGGCAAGCAACAAAGAAGGTGGTGATTGGCTGGATTCTTGCTCATGGCTCCTGGCAGATCTGACAAATCCTCTTGCTTTTGCTCTA
ATCTCTGTCTGGATACTTTTAGGAAAAGAACCTTGTTATTATGTACTAAAGTGAATAATTTGTGCTCTTAGAGTAGGAGTTGGAACTATAGGACTTGAAG
GCAAGAGCAGGTATCTTATCAAGGATCTACTCACTCAGTTTCCCTAAAGCTCTCTCTCCAGATCGGATTCAACCGCACATCATGACAGATGTTCCGGCTA
CATTTACCCAGGCTGAGTGTAATGGGGATAAACCACCTGAAAACGGTCAACAAACAATCACTAAAATCAGTGAGGAATTGACTGATGTGGACAGCCCCCT
GCCACACTACAGGGTAGAACCCAGTCTGGAAGGTGCACTCACCAAAGGAAGTCAGGAGGAAAGAAGAAAATTACAAGGGAACATGCTGCTCAACTCATCC
ATGGAGGACAAAATGCTAAAAGAAAACCCAGAAGAGAAACTCTTTATTGTTCATAAGGCTATCACAGATCTTTCTCTCCAAGAAACTAGTGCTGATGAAA
TGACATTCAGAGAAGGGCATCAGTGGGAGAAGATTCCTCTGAGTGGCAGTAACCAGGAAATAAGAAGACAGAAGGAGAGGATTACTGAGCAGCCTCTCAA
AGAGGAAGAAGATGAGGACAGGAAGAACAAAGGTCACCAGGCAGCTGAAATTGAATGGCTGGGATTTCGAAAACCTAGCCAAGCTGACATGTTACATTCT
AAACATGATGAGGAGCAGAAGGTTTGGGATGAAGAAATTGATGATGATGATGATGATAATTGCAATAATGATGAAGATGAAGTTCGAGTGATAGAATTTA
AGAAAAAACATGAAGAGGTTTCTCAATTTAAAGAGGAAGGTGATGCAAGTGAGGACTCCCCACTGAGCAGTGCCAGTTCCCAAGCTGTGACACCTGATGA
GCAGCCAACCTTAGGGAAGAAGAGTGATATCTCCAGAAATGCTTATTCCAGATACAATACAATATCCTATCGGAAAATCAGAAAGGGAAATACCAAGCAA
AGAATTGATGAATTCGAGTCTATGATGCATTTATAAACTAACTGGAACTGAGAAATTCTCATGCCCACTAAAGGAAAAGCTAATTCTATTGCCCCAGGGT
GCATATTTCTATGCCTTATTTGAGTTATCACTTGGAGGGAGGTGGAAGTTGACTCTCTTTTTCACTGTAGAATAATGTGGAAATAACCCTAGATAAAAAT
TCAGTCTGATAACCTCAAATCAAAAAGCTTTAAATAAATTCTTGGGCATTTATCTTTTAAAACTTCACTAATATAGCATTGTGTGATAAGCACTAAGCAG
TCAGTCCCCTGGGGGAATCTGGCATAATTCGGCTATAAATGTAGCAATGCTTGGAAAGGTAGTCATCAAATGAGACTATTTGAGGGGACTATTTGAAATG
ATTCTGGTATTTCTTTTGGTATCTTTCTTCCTGTACATTGGAGTGATGGAAAGTCTGGTATTAAAACCTCTCTTACTTTTAAACTTGATTTTGCAGACTC
TGGCAATAAGCCTTCCAAAATTCTGTGCCTTTTCTATTATCACCAAACAATATGTTAAGTGGCTTTCCTTGGCATCTACAGAGAAAACATTCTATAGCCC
TCCTTCCTAGGTGTTACCATTCACTGAATCTTCTCTCAGAGGGAGATGAGCAATTGTCAGTCAGGATAATTCTGTTTGCTAAATGTTGCCTTTATGCTTT
CAAACTGAATTAAACCCATTGTGAGGTTGACACTGGGAGGGGCTAGAAGATTGGTGGGCAGCAGACTAAAGAGTTATGTTGGATAGTTTTATTTCTGTGG
CTGAAAATAAAATCTTGTCTAGCACAGTTAAAGTCATTAAAAATAAAAATGACAGCTTTAGCACAATTTTAAGAAAATGCCCCTCTCTATTACCACATTT
TCTCTTATTAACAGTATCTCAGAATAATTTTCTTTCCTTAGAAACCTGAGAGAATGCTAGTCATAACTGTACTAGTTACTATGAAAATGGAAATAATTAT
CTTAGAATATTTTCAAAGTAGAGCGTGAGCATGTATTTTTAGTGGGAGAGCTCTGATAGTTGTTGGGAATATATAATTTACTGGACCTCAGCCCAAATCA
AGATGCTTAAAATTGTACTTGTGGAGCTTCACTCAAACCAATGTGTCAAATAACGTATTGAATATTTATGAAAAGAGAGACTATATTTATATTCTTAGAT
AGTTTGTTCCACAATTTTTCATTTCATGCTTCCATATATATTACCCTGAACTTTCTATCACCACAGATAAAGATTTTGTTTTGCCCTGCAAATAAAAAGA
CAATTCCTTATTGTCTGAATGTAATACAGTCTTCATTGTACTATTCAACCCTTTGTTTCTTTCTTTTTCATTTTGTGAAAAACTCCATGTTAGTCCTCTT
AGATGACTGCTTATTTATGTGTAACATAAATCCCACATATTCTAATGACAACTTCTTTAATCCTTCCGGGTCATATATTATATTTCCATAGTATCACATA
CTATTATTTAGTTGTTTACAAGACTCCAATTTGAATTCAGGATTACAGTGCTCCTTTCATTCTTTCAAACAGATAACATAAAAGTTCTGTTACCCTCATT
CTATACAACCTATGGATTTCATGTGTTACAATATCAGTTTCCAGAATAAAGTGAGGGAAATCAGGTCTTTATTGATAAAGTTAGGGAGAAGATTGATGCA
ATAGGACAATTTCCAATTTAATTTAGATCCTCTAATCTTTCTACATGGACAAGCTGTTTTCTTTTCTAGGTTACTGATAACCCCTACAATTTTCGACTTA
ACTTCAAAACACAGTATTGTGTTATCTATCACATAACAGGACCATGTTTTTAACCTACCATCAAGAGCCTGTATTTTGAGTTATTCCAACAGAGATGATG
GATTCCTGTAGAACTAGAGGTGGGTGACCTATGGTTATGTGGCACGGCAAAGCAAGTACCTCTTAAGGGACTCTAATATATGCTAACGCTGGTCCTCTTA
GCTCTGTGCTCTCACCAGACAATGAATGAACTATGAAAGATTTAGTCAACAGAAACTATTTTAGGGTATGTTTAGTTGGTAAATGCTTCATGTTCATGGA
TGACACAATGTTTTTGCAAAAAAACCCTGAAACTATTCTTTGGCATTGGTGTCCATGGCCCTATACCGCCATCTTACACGAAAGCCACAGAGTTGAAAGC
CACAGAGTTGAAAGCCACAGAGTTAAGTGACCTCAGGTAACATAATGGTGATGGTTGGCCATTTGAGTCTTTGTAACCTAGGAAAGACAAAGGTCTGATT
CAGATTGCATGGGGGATTTTTAACATATTTGAAACTCAGGGGGAACATGATTAAGAACACAAACTGGTAGCTACACATGAAGGTTTACTTGAGCTTTTGT
GATTCAAAGTTCAGGGGTGGTAAGGACTCTGGTACCAGGGAAGAGGGAGAATTAATTTATTGTGCAAATGCTGGTATTTCTTACATGATTTTTTGTTTTC
CTCTGTTGCTAGATAAATAGAAACTAATAATAGCTCTATTTCTCTGCCAATATAAAATCTACCTTTCATATAATGCTACATTGAAGGCACAGAATTTGCT
ACCATCTCTCTCTCCCCCTACCTACCAAACTATCCACAATTTAAATAAAGAACTGCTGTGTCTGACTTACTCTCAATAAAAGTTTGTGTCTTTATT


Protein Sequence     (SEQ ID NO:431):
MTDVPATFTQAECNGDKPPENGQQTITKISEELTDVDSPLPHYRVEPSLEGALTKGSQEERRKLQGNMLLNSSMEDKMLKENPEEKLFIVHKAITDLSLQ
ETSADEMTFREGHQWEKIPLSGSNQEIRRQKERITEQPLKEEEDEDRKNKGHQAAEIEWLGFRKPSQADMLHSKHDEEQKVWDEEIDDDDDDNCNNDEDE
VRVIEFKKKHEEVSQFKEEGDASEDSPLSSASSQAVTPDEQPTLGKKSDISRNAYSRYNTISYRKIRKGNTKQRIDEFESMMHL*



SNP Information


Context              (SEQ ID NO:3315):
CTCTGCCAGGGAACTGGCAAGCAACAAAGAAGGTGGTGATTGGCTGGATTCTTGCTCATGGCTCCTGG
M
AGATCTGACAAATCCTCTTGCTTTTGCTCTAATCTCTGTCTGGATACTTTTAGGAAAAGAACCTTGTTATTATGTACTAAAGTGAATAATTTGTGCTCTT
Celera SNP ID:                hCV27834429
SNP Position Transcript:      69
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|A,0)  african american(C,33|A,1)  total(C,69|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:431, None



Context              (SEQ ID NO:3316):
CTCTAATCTCTGTCTGGATACTTTTAGGAAAAGAACCTTGTTATTATGTACTAAAGTGAATAATTTGTGCTCTTAGAGTAGGAGTTGGAACTATAGGACT
Y
GAAGGCAAGAGCAGGTATCTTATCAAGGATCTACTCACTCAGTTTCCCTAAAGCTCTCTCTCCAGATCGGATTCAACCGCACATCATGACAGATGTTCCG
Celera SNP ID:                hCV27853883
SNP Position Transcript:      196
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,36|C,0)  african american(T,34|C,2)  total(T,70|C,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:431, None



Gene Number:                  70
Celera Gene:                  hCG39602 - 145000147474422
Celera Transcript:            hCT1961571 - 145000147474423
Public Transcript Accession:
Celera Protein:               hCP1774284 - 197000069450827
Public Protein Accession:
Gene Symbol:                  MKI67
Protein Name:                  antigen identified by monoclonal antibody Ki-67
Celera Genomic Axis:          GA_x54KRFTF114(4254619..4296355)
Chromosome:                   10
OMIM NUMBER:                  176741
OMIM Information:


Transcript Sequence  (SEQ ID NO:171):
GGGCGGGAGGACTCGACTCGGTGGGAGCCGCTAGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCA
GCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCG
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
AATTTGCTTCTGGCCTTCCCCTACGGATTATACCTGGCCTTCCCCTACGGATTATACTCAACTTACTGTTTAGAAAATGTGGCCCACGAGACGCCTGGTT
ACTATCAAAAGGAGCGGGGTCGACGGTCCCCACTTTCCCCTGAGCCTCAGCACCTGCTTGTTTGGAAGGGGTATTGAATGTGACATCCGTATCCAGCTTC
CTGTTGTGTCAAAACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGT
TATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCA
ACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAAAGCTCAAGATTCCAAGG
CCTATTCAAAAATCACTGAAGGAAAAGTTTCAGGAAATCCTCAGGTACATATCAAGAATGTCAAAGAAGACAGTACCGCAGATGACTCAAAAGACAGTGT
TGCTCAGGGAACAACTAATGTTCATTCCTCAGAACATGCTGGACGTAATGGCAGAAATGCAGCTGATCCCATTTCTGGGGATTTTAAAGAAATTTCCAGC
GTTAAATTAGTGAGCCGTTATGGAGAATTGAAGTCTGTTCCCACTACACAATGTCTTGACAATAGCAAAAAAAATGAATCTCCCTTTTGGAAGCTTTATG
AGTCAGTGAAGAAAGAGTTGGATGTAAAATCACAAAAAGAAAATGTCCTACAGTATTGTAGAAAATCTGGATTACAAACTGATTACGCAACAGAGAAAGA
AAGTGCTGATGGTTTACAGGGGGAGACCCAACTGTTGGTCTCGCGTAAGTCAAGACCAAAATCTGGTGGGAGCGGCCACGCTGTGGCAGAGCCTGCTTCA
CCTGAACAAGAGCTTGACCAGAACAAGGGGAAGGGAAGAGACGTGGAGTCTGTTCAGACTCCCAGCAAGGCTGTGGGCGCCAGCTTTCCTCTCTATGAGC
CGGCTAAAATGAAGACCCCTGTACAATATTCACAGCAACAAAATTCTCCACAAAAACATAAGAACAAAGACCTGTATACTACTGGTAGAAGAGAATCTGT
GAATCTGGGTAAAAGTGAAGGCTTCAAGGCTGGTGATAAAACTCTTACTCCCAGGAAGCTTTCAACTAGAAATCGAACACCAGCTAAAGTTGAAGATGCA
GCTGACTCTGCCACTAAGCCAGAAAATCTCTCTTCCAAAACCAGAGGAAGTATTCCTACAGATGTGGAAGTTCTGCCTACGGAAACTGAAATTCACAATG
AGCCATTTTTAACTCTGTGGCTCACTCAAGTTGAGAGGAAGATCCAAAAGGATTCCCTCAGCAAGCCTGAGAAATTGGGCACTACAGCTGGACAGATGTG
CTCTGGGTTACCTGGTCTTAGTTCAGTTGATATCAACAACTTTGGTGATTCCATTAATGAGAGTGACGGAATACCTTTGAAAAGAAGGCGTGTGTCCTTT
GGTGGGCACCTAAGACCTGAACTATTTGATGAAAACTTGCCTCCTAATACGCCTCTCAAAAGGGGAGAAGCCCCAACCAAAAGAAAGTCTCTGGTAATGC
ACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAATCCATGTGGAAGTGAAGGCACAAAG
CTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAA
TCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCTATCAGCCGAAGTCAACATGATATTTTACAGATGA
TATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGTAGTAAAACTTGGTGCAAAACAAACACAAACTAA
AGTCATAAAACATGGTCCTCAAAGGTCAATGAACAAAAGGCAAAGAAGACCTGCTACTCCAAAGAAGCCTGTGGGCGAAGTTCACAGTCAATTTAGTACA
GGCCACGCAAACTCTCCTTGTACCATAATAATAGGGAAAGCTCATACTGAAAAAGTACATGTGCCTGCTCGACCCTACAGAGTGCTCAACAACTTCATTT
CCAACCAAAAAATGGACTTTAAGGAAGATCTTTCAGGAATAGCTGAAATGTTCAAGACCCCAGTGAAGGAGCAACCGCAGTTGACAAGCACATGTCACAT
CGCTATTTCAAATTCAGAGAATTTGCTTGGAAAACAGTTTCAAGGAACTGATTCAGGAGAAGAACCTCTGCTCCCCACCTCAGAGAGTTTTGGAGGAAAT
GTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGTGTATTAGAGAAAATGGAAACGTAG
CAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTGCAAACAGGTC
AGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATTGTTGAGTGCATCCTAAAAAGAGGT
CAGAAGGCAACACTACTACAACAAAGGAGAGAAGGAGAGATGAAGGAAATAGAAAGACCTTTTGAGACATATAAGGAAAATATTGAATTAAAAGAAAACG
ATGAAAAGATGAAAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCTCAAGAGCTTGCCTGATACAGAACT
CATGAAAGACACGGCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGCAAAATCACTAAAATGCCCTGCCAG
TCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTCG
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
CCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAGACCTGGCTGGCTTCAAAGAGCTC
TTCCAGACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAA
GCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAACACCATCAGCAGGGAAAGCCATGCT
TACGCCCAAACCAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAA
AGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGG
CTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAA
AGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAACCATCAGTAGGTGAAGAGAAAGAC
ATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCACAAACTCCTAAGGAAGAGGCCCAGG
CTCTGGAAGACCTGACTGGCTTTAAAGAGCTCTTCCAGACCCCTGGTCATACTGAAGAAGCAGTGGCTGCTGGCAAAACTACTAAAATGCCCTGCGAATC
TTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAG
AAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAAC
TGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCTGGCTGGCTTGAAAGAGCTCTTCCA
GACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAG
CCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCA
AACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCT
ACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCACACTGAGGAATCAATGACTAACGAT
AAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACCCAGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCAAGACATCCCTGGGGAAAGTGGGCG
TGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACATCAGGAGAGACTACACACACACACACAGAGCCAACAGGAGATGGTAAGAGCATGAAAGC
ATTTATGGAGTCTCCAAAGCAGATCTTAGACTCAGCAGCAAGTCTAACTGGCAGCAAGAGGCAGCTGAGAACTCCTAAGGGAAAGTCTGAAGTCCCTGAA
GACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAACGAAAAAACTACCAAAGTATCCTACAGAGCTTCACAGC
CAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAGACACTGAAGAAGAATTTTTAGCATTTAGGAAACAAAC
GCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGAACTCCAGTGCAGAAACTGGACCAG
CCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACAC
CATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCA
ACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAA
GCAGCAGTAGGTGAAGAGAAAGACATCAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCAC
AAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAA
AATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAGATATCCTTGGGGAAAGTAGGTGTG
AAAGAAGAGGTCCTACCAGTCGGCAAGCTCACACAGACGTCAGGGAAGACCACACAGACACACAGAGAGACAGCAGGAGATGGAAAGAGCATCAAAGCGT
TTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAAGGAAGAGGCCCAATCACTAGAAGA
CCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAATAGCCTGCAAATCTCCACCACCA
GAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGCTCTCAGCCCTGAAGCAGCTCACAC
AGACCACACACACAGACAAAGTACCAGGAGATGAGGATAAAGGCATCAACGTGTTCAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAAC
TGGTAGCAAGAGGCAGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAATATGCACTGAC
AAGCCCACGACTCATGAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAATCTTCAAGCCACAGTCCAAGAGAA
GTCTCAGGAAAGCAGACGTAGAGGAAGAATCCTTAGCACTCAGGAAACGAACACCATCAGTAGGGAAAGCTATGGACACACCCAAACCAGCAGGAGGTGA
TGAGAAAGACATGAAAGCATTTATGGGAACTCCAGTGCAGAAATTGGACCTGCCAGGAAATTTACCTGGCAGCAAAAGATGGCCACAAACTCCTAAGGAA
AAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAACTACCAAAATAGCCT
GCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAGGAAGAATTTTTAGC
ACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGGACACACCAAAACCAGCAGTAAGTGATGAGAAAAATATCAACACATTTGTGGAAACTCCAGTG
CAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACAGCCACAGACTCCTAAGGAAAAGGCTGAGGCTCTAGAGGACCTGGTTGGCTTCAAAG
AACTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACTGATGACAAAATCACAGAAGTATCCTGTAAATCTCCACAGCCAGAGTCATTCAAAACCTC
AAGAAGCTCCAAGCAAAGGCTCAAGATACCCCTGGTGAAAGTGGACATGAAAGAAGAGCCCCTAGCAGTCAGCAAGCTCACACGGACATCAGGGGAGACT
ACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGCGTTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCAAGTGTAACTGGTA
GCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAGACCTGGTTGACTTCAAAGAGCTCTTCTCAGCACCAGGTCACACTGAAGAGTC
AATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACACGTCCC
AGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGG
GCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACC
CCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCGAATCT
CCCCCACTAGAAGTGGTAGACACCACAGCAAGCACAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGT
TCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGC
TCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCA
GGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGC
CCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCC
GGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCT
AAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCT
TTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATCCAGAAGAGTTCTTCGGGCCCCTAAAGTAGAACCCGTGGGAGACGTGGT
AAGCACCAGAGACCCTGTAAAATCACAAAGCAAAAGCAACACTTCCCTGCCCCCACTGCCCTTCAAGAGGGGAGGTGGCAAAGATGGAAGCGTCACGGGA
ACCAAGAGGCTGCGCTGCATGCCAGCACCAGAGGAAATTGTGGAGGAGCTGCCAGCCAGCAAGAAGCAGAGGGTTGCTCCCAGGGCAAGAGGCAAATCAT
CCGAACCCGTGGTCATCATGAAGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAGCAACGACATGAAAACCAACAAAGA
GGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTC
TTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGA
AACCCATACCTAGAGACAAAGTCAGTGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCCTAAGGTGGCAGAGGAGAGCGGAGG
GCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAG
CCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTG
TCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAGTTAGTTTTGTGATAAGTTCT
AGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTGGATTTGCTGGGTCTGAATCGGCTT
CATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCTGGGCCAAGGTTTGCCCTCAGCTTT
GCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTCGTTTGTTTGCCTATGTC
CTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAGCGCACGGATGAATGGA
GCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCTATTTTTGATGTCCTTTCC
TTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACTCGTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTAAGGAGTGACTCGTGGCTTGCCTTG
GTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCACCTGAGACATTCTCCACCCGCGGAATCTCAGGGTCCCAGGCTGTGGGCCATCACGACCTCAA
ACTGGCTCCTAATCTCCAGCTTTCCTGTCATTGAAAGCTTCGGAAGTTTACTGGCTCTGCTCCCGCCTGTTTTCTTTCTGACTCTATCTGGCAGCCCGAT
GCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCTTCAGCCACGATTTCAGGATCGCTT
CCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAACTCGTTCATCTTCATTTACTTTCCA
CTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAGGTCACCTGTCTGGATTCCTCCCCATTCACCCACCTTGCCAGG
TGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCCTGTCTCCACGTTTGTTTCCCCAGTGTCTGGCG
GGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATATTGGCTGCCATGATAGGGTTCTCACAGCGTC
ATCCATGATCGTAAGGGAGAATGACATTCTGCTTGAGGGAGGGAATAGAAAGGGGCAGGGAGGGGACATCTGAGGGCTTCACAGGGCTGCAAAGGGTACA
GGGATTGCACCAGGGCAGAACAGGGGAGGGTGTTCAAGGAAGAGTGGCTCTTAGCAGAGGCACTTTGGAAGGTGTGAGGCATAAATGCTTCCTTCTACGT
AGGCCAACCTCAAAACTTTCAGTAGGAATGTTGCTATGATCAAGTTGTTCTAACACTTTAGACTTAGTAGTAATTATGAACCTCACATAGAAAAATTTCA
TCCAGCCATATGCCTGTGGAGTGGAATATTCTGTTTAGTAGAAAAATCCTTTAGAGTTCAGCTCTAACCAGAAATCTTGCTGAAGTATGTCAGCACCTTT
TCTCACCCTGGTAAGTACAGTATTTCAAGAGCACGCTAAGGGTGGTTTTCATTTTACAGGGCTGTTGATGATGGGTTAAAAATGTTCATTTAAGGGCTAC
CCCCGTGTTTAATAGATGAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGG
ATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAA
TACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACACTAACTCTGTACCTACCATCTCCT
GCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCCTGCCCCACCAAGATCATTTCATCCAGTCC
TGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCAGGTTCTTAGTTTGCCTGGAATTGTTCTG
TACCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGAC
TGTATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA


Protein Sequence     (SEQ ID NO:432):
MWPTRRLVTIKRSGVDGPHFPLSLSTCLFGRGIECDIRIQLPVVSKQHCKIEIHEQEAILHNFSSTNPTQVNGSVIDEPVRLKHGDVITIIDRSFRYENE
SLQSGRKSTEFPRKIREQEPARRVSRSSFSSDPDEKAQDSKAYSKITEGKVSGNPQVHIKNVKEDSTADDSKDSVAQGTTNVHSSEHAGRNGRNAADPIS
GDFKEISSVKLVSRYGELKSVPTTQCLDNSKKNESPFWKLYESVKKELDVKSQKENVLQYCRKSGLQTDYATEKESADGLQGETQLLVSRKSRPKSGGSG
HAVAEPASPEQELDQNKGKGRDVESVQTPSKAVGASFPLYEPAKMKTPVQYSQQQNSPQKHKNKDLYTTGRRESVNLGKSEGFKAGDKTLTPRKLSTRNR
TPAKVEDAADSATKPENLSSKTRGSIPTDVEVLPTETEIHNEPFLTLWLTQVERKIQKDSLSKPEKLGTTAGQMCSGLPGLSSVDINNFGDSINESDGIP
LKRRRVSFGGHLRPELFDENLPPNTPLKRGEAPTKRKSLVMHTPPVLKKIIKEQPQPSGKQESGSEIHVEVKAQSLVISPPAPSPRKTPVASDQRRRSCK
TAPASSSKSQTEVPKRGGRKSGNLPSKRVSISRSQHDILQMICSKRRSGASEANLIVAKSWADVVKLGAKQTQTKVIKHGPQRSMNKRQRRPATPKKPVG
EVHSQFSTGHANSPCTIIIGKAHTEKVHVPARPYRVLNNFISNQKMDFKEDLSGIAEMFKTPVKEQPQLTSTCHIAISNSENLLGKQFQGTDSGEEPLLP
TSESFGGNVFFSAQNAAKQPSDKCSASPPLRRQCIRENGNVAKTPRNTYKMTSLETKTSDTETEPSKTVSTANRSGRSTEFRNIQKLPVESKSEETNTEI
VECILKRGQKATLLQQRREGEMKEIERPFETYKENIELKENDEKMKAMKRSRTWGQKCAPMSDLTDLKSLPDTELMKDTARGQNLLQTQDHAKAPKSEKG
KITKMPCQSLQPEPINTPTHTKQQLKASLGKVGVKEELLAVGKFTRTSGETTHTHREPAGDGKSIRTFKESPKQILDPAARVTGMKKWPRTPKEEAQSLE
DLAGFKELFQTPGPSEESMTDEKTTKIACKSPPPESVDTPTSTKQWPKRSLRKADVEEEFLALRKLTPSAGKAMLTPKPAGGDEKDIKAFMGTPVQKLDL
AGTLPGSKRQLQTPKEKAQALEDLAGFKELFQTPGHTEELVAAGKTTKIPCDSPQSDPVDTPTSTKQRPKRSIRKADVEGELLACRNLMPSAGKAMHTPK
PSVGEEKDIIIFVGTPVQKLDLTENLTGSKRRPQTPKEEAQALEDLTGFKELFQTPGHTEEAVAAGKTTKMPCESSPPESADTPTSTRRQPKTPLEKRDV
QKELSALKKLTQTSGETTHTDKVPGGEDKSINAFRETAKQKLDPAASVTGSKRHPKTKEKAQPLEDLAGLKELFQTPVCTDKPTTHEKTTKIACRSQPDP
VDTPTSSKPQSKRSLRKVDVEEEFFALRKRTPSAGKAMHTPKPAVSGEKNIYAFMGTPVQKLDLTENLTGSKRRLQTPKEKAQALEDLAGFKELFQTRGH
TEESMTNDKTAKVACKSSQPDPDKNPASSKRRLKTSLGKVGVKEELLAVGKLTQTSGETTHTHTEPTGDGKSMKAFMESPKQILDSAASLTGSKRQLRTP
KGKSEVPEDLAGFIELFQTPSHTKESMTNEKTTKVSYRASQPDLVDTPTSSKPQPKRSLRKADTEEEFLAFRKQTPSAGKAMHTPKPAVGEEKDINTFLG
TPVQKLDQPGNLPGSNRRLQTRKEKAQALEELTGFRELFQTPCTDNPTTDEKTTKKILCKSPQSDPADTPTNTKQRPKRSLKKADVEEEFLAFRKLTPSA
GKAMHTPKAAVGEEKDINTFVGTPVEKLDLLGNLPGSKRRPQTPKEKAKALEDLAGFKELFQTPGHTEESMTDDKITEVSCKSPQPDPVKTPTSSKQRLK
ISLGKVGVKEEVLPVGKLTQTSGKTTQTHRETAGDGKSIKAFKESAKQMLDPANYGTGMERWPRTPKEEAQSLEDLAGFKELFQTPDHTEESTTDDKTTK
IACKSPPPESMDTPTSTRRRPKTPLGKRDIVEELSALKQLTQTTHTDKVPGDEDKGINVFRETAKQKLDPAASVTGSKRQPRTPKGKAQPLEDLAGLKEL
FQTPICTDKPTTHEKTTKIACRSPQPDPVGTPTIFKPQSKRSLRKADVEEESLALRKRTPSVGKAMDTPKPAGGDEKDMKAFMGTPVQKLDLPGNLPGSK
RWPQTPKEKAQALEDLAGFKELFQTPGTDKPTTDEKTTKIACKSPQPDPVDTPASTKQRPKRSLRKADVEEEFLALRKRTPSAGKAMDTPKPAVSDEKNI
NTFVETPVQKLDLLGNLPGSKRQPQTPKEKAEALEDLVGFKELFQTPGHTEESMTDDKITEVSCKSPQPESFKTSRSSKQRLKIPLVKVDMKEEPLAVSK
LTRTSGETTQTHTEPTGDSKSIKAFKESPKQILDPAASVTGSRRQLRTRKEKARALEDLVDFKELFSAPGHTEESMTIDKNTKIPCKSPPPELTDTATST
KRCPKTRPRKEVKEELSAVERLTQTSGQSTHTHKEPASGDEGIKVLKQRAKKKPNPVEEEPSRRRPRAPKEKAQPLEDLAGFTELSETSGHTQESLTAGK
ATKIPCESPPLEVVDTTASTKRHLRTRVQKVQVKEEPSAVKFTQTSGETTDADKEPAGEDKGIKALKESAKQTPAPAASVTGSRRRPRAPRESAQAIEDL
AGFKDPAAGHTEESMTDDKTTKIPCKSSPELEDTATSSKRRPRTRAQKVEVKEELLAVGKLTQTSGETTHTDKEPVGEGKGTKAFKQPAKRKLDAEDVIG
SRRQPRAPKEKAQPLEDLASFQELSQTPGHTEELANGAADSFTSAPKQTPDSGKPLKISRRVLRAPKVEPVGDVVSTRDPVKSQSKSNTSLPPLPFKRGG
GKDGSVTGTKRLRCMPAPEEIVEELPASKKQRVAPRARGKSSEPVVIMKRSLRTSAKRIEPAEELNSNDMKTNKEEHKLQDSVPENKGISLRSRRQNKTE
AEQQITEVFVLAERIEINRNEKKPMKTSPEMDIQNPDDGARKPIPRDKVSENKRCLRSARQNESSQPKVAEESGGQKSAKVLMQNQKGKGEAGNSDSMCL
RSRKTKSQPAASTLESESVQRVTRSVKRCAENPKKAEDNVCVKKIRTRSHRDSEDI*



SNP Information


Context              (SEQ ID NO:3317):
AGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAA
R
ATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGA
Celera SNP ID:                hCV15812489
SNP Position Transcript:      9665
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3097,(N,AAT) (D,GAT)



Context              (SEQ ID NO:3318):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV25473769
SNP Position Transcript:      8322
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,33|A,3)  total(G,68|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2649,(R,CGT) (H,CAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2649,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3319):
GCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCAC
R
ACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCA
Celera SNP ID:                hCV25474782
SNP Position Transcript:      5920
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,11)  total(G,59|A,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1848,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1848,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3320):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV1801147
SNP Position Transcript:      3500
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,6)  african american(G,30|A,6)  total(G,58|A,12)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1042,(G,GGC) (S,AGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,29|A,5)  total(G,59|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1042,(G,GGC) (S,AGC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,1728|A,384)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1042,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3321):
ATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCT
S
TGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTGCAAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCT
Celera SNP ID:                hCV1801146
SNP Position Transcript:      2936
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|C,30)  african american(G,12|C,26)  total(G,22|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 854,(L,CTG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,8|C,30)  african american(G,12|C,26)  total(G,20|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 854,(L,CTG) (V,GTG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,138|G,46) ; no_pop(C,10|G,8) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 854,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3322):
CTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGA
S
GAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAGATAT
Celera SNP ID:                hCV25626916
SNP Position Transcript:      6280
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|C,0)  african american(G,33|C,1)  total(G,69|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1968,(E,GAG) (D,GAC)



Context              (SEQ ID NO:3323):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV8903188
SNP Position Transcript:      2267
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 631,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3324):
TGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAAC
R
GCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCA
Celera SNP ID:                hCV25474272
SNP Position Transcript:      6003
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,29|A,9)  total(G,59|A,19)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1876,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1876,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3325):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV15834772
SNP Position Transcript:      3500
SNP Source:                   Applera/HGBASE/HapMap/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1042,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3326):
GACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAG
R
ACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAAT
Celera SNP ID:                hCV25473484
SNP Position Transcript:      9681
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,33)  african american(G,10|A,26)  total(G,11|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3102,(E,GAA) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,35)  african american(G,10|A,26)  total(G,11|A,61)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3102,(E,GAA) (G,GGA)



Context              (SEQ ID NO:3327):
GCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCT
M
AAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATC
Celera SNP ID:                hCV25626966
SNP Position Transcript:      9152
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|A,0)  african american(C,37|A,1)  total(C,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2926,(Q,CAA) (K,AAA)



Context              (SEQ ID NO:3328):
CTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACAC
Y
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
Celera SNP ID:                hCV25626963
SNP Position Transcript:      8878
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2834,(T,ACC) (T,ACT)



Context              (SEQ ID NO:3329):
TGAAAGAAGAGCCCCTAGCAGTCAGCAAGCTCACACGGACATCAGGGGAGACTACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCAAGTGTAACTGGTAGCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAG
Celera SNP ID:                hCV25626926
SNP Position Transcript:      7948
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2524,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3330):
ACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGC
Y
CAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCAGCA
Celera SNP ID:                hCV25474283
SNP Position Transcript:      6006
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1877,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3331):
ACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTA
Y
GCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAG
Celera SNP ID:                hCV25626975
SNP Position Transcript:      5032
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,1|C,31)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1552,(Y,TAC) (Y,TAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,1|C,33)  total(T,1|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1552,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3332):
GCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACT
Y
AGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGA
Celera SNP ID:                hCV25626983
SNP Position Transcript:      4957
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,30)  total(T,2|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1527,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1527,(L,CTC) (L,CTT)



Context              (SEQ ID NO:3333):
ACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGA
M
AGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAAC
Celera SNP ID:                hCV27103489
SNP Position Transcript:      4926
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1517,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3334):
AAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCCCTCTGAGGAATCAATGA
S
TGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAA
Celera SNP ID:                hCV31968263
SNP Position Transcript:      3735
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1120,(T,ACT) (S,AGT)



Context              (SEQ ID NO:3335):
ACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAA
S
AACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAGTTAGTTTTGTGATAAGTTCTAGTGCAGTTTTTG
Celera SNP ID:                hCV16076591
SNP Position Transcript:      10113
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3246,(R,AGA) (T,ACA)



Context              (SEQ ID NO:3336):
TCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGA
R
GGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAG
Celera SNP ID:                hCV25626905
SNP Position Transcript:      10080
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3235,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3337):
CGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAG
R
TAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGT
Celera SNP ID:                hCV1801157
SNP Position Transcript:      8655
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,1446|G,486)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2760,(D,GAT) (G,GGT)



Context              (SEQ ID NO:3338):
TGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCGAATCTCCCCCACTAGAAGTGGTAGACACCACAGCAAGC
M
CAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGA
Celera SNP ID:                hCV1801156
SNP Position Transcript:      8534
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,30|A,154) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2720,(T,ACA) (P,CCA)



Context              (SEQ ID NO:3339):
GAGTCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACAC
R
TCCCAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGAT
Celera SNP ID:                hCV25626974
SNP Position Transcript:      8196
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2607,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3340):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV1801149
SNP Position Transcript:      4116
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1247,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3341):
CAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCT
M
TAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCC
Celera SNP ID:                hCV25626925
SNP Position Transcript:      6227
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|A,0)  african american(C,32|A,2)  total(C,62|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1951,(L,CTA) (I,ATA)



Context              (SEQ ID NO:3342):
ACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTG
K
CTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTG
Celera SNP ID:                hCV25626994
SNP Position Transcript:      4053
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|G,32)  african american(T,1|G,35)  total(T,3|G,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1226,(G,GGC) (V,GTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,1|G,37)  total(T,4|G,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1226,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3343):
AAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCTCAAGAGCTTGCCTGATACAGAACTCATGAAAGACAC
R
GCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGCAAAATCACTAAAATGCCCTGCCAGTCATTACAACCAG
Celera SNP ID:                hCV25626945
SNP Position Transcript:      3313
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,33|A,1)  total(G,65|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 979,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,3)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 979,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3344):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV27103479
SNP Position Transcript:      2267
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,445|C,15) ; no_pop(A,6|C,2) ; no_pop(A,1221|C,3138) ; no_pop(
A,112|C,8)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 631,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3345):
ATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAAACCCATACCTAGAGACAAAGTCA
S
TGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATG
Celera SNP ID:                hCV8903193
SNP Position Transcript:      9825
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,18)  african american(G,17|C,21)  total(G,35|C,39)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3150,(S,AGT) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,20)  african american(G,18|C,20)  total(G,36|C,40)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3150,(S,AGT) (T,ACT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,344|G,344) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3150,(S,AGT) (T,ACT)



Context              (SEQ ID NO:3346):
AGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTC
R
GTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAG
Celera SNP ID:                hCV1801164
SNP Position Transcript:      9622
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,8)  african american(G,35|A,3)  total(G,63|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 3082,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 3082,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3347):
AAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGC
Y
CAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCAT
Celera SNP ID:                hCV25472876
SNP Position Transcript:      8758
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|C,28)  african american(T,11|C,21)  total(T,21|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2794,(A,GCC) (A,GCT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2794,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3348):
TCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACACGTC
Y
CAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAG
Celera SNP ID:                hCV1801154
SNP Position Transcript:      8199
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,19|C,13)  african american(T,19|C,15)  total(T,38|C,28)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2608,(P,CCC) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|T,114) ; no_pop(C,442|T,530) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2608,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3349):
AGCTGAGAACTCCTAAGGGAAAGTCTGAAGTCCCTGAAGACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAA
Y
GAAAAAACTACCAAAGTATCCTACAGAGCTTCACAGCCAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV12049035
SNP Position Transcript:      5563
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|C,29)  african american(T,3|C,35)  total(T,10|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1729,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,30)  african american(T,3|C,35)  total(T,11|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1729,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,146|T,38) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1729,(N,AAC) (N,AAT)



Context              (SEQ ID NO:3350):
AAAATGCCCTGCGAATCTTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGG
W
GCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAA
Celera SNP ID:                hCV25472740
SNP Position Transcript:      4584
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,31)  african american(T,2|A,36)  total(T,9|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1403,(E,GAG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,33)  african american(T,2|A,36)  total(T,9|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1403,(E,GAG) (V,GTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2454|T,534) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1403,(E,GAG) (V,GTG)



Context              (SEQ ID NO:3351):
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
S
CACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGC
Celera SNP ID:                hCV15869189
SNP Position Transcript:      8979
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,506|C,2410) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2868,(T,ACC) (S,AGC)



Context              (SEQ ID NO:3352):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV1801163
SNP Position Transcript:      9087
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2904,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3353):
ATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAG
Y
CATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCA
Celera SNP ID:                hCV25626955
SNP Position Transcript:      8763
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,33)  total(T,1|C,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2796,(A,GCC) (V,GTC)



Context              (SEQ ID NO:3354):
CCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAG
S
AAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAA
Celera SNP ID:                hCV25626935
SNP Position Transcript:      4924
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1516,(R,AGG) (S,AGC)



Context              (SEQ ID NO:3355):
AAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACA
S
ATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCA
Celera SNP ID:                hCV25627001
SNP Position Transcript:      4637
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1421,(D,GAT) (H,CAT)



Context              (SEQ ID NO:3356):
TCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGA
W
ACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTG
Celera SNP ID:                hCV25626982
SNP Position Transcript:      4962
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,34)  african american(T,1|A,31)  total(T,1|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1529,(K,AAA) (I,ATA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,40)  african american(T,1|A,37)  total(T,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1529,(K,AAA) (I,ATA)



Context              (SEQ ID NO:3357):
CAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACG
R
CTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAA
Celera SNP ID:                hCV27103486
SNP Position Transcript:      5921
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1849,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3358):
GCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGC
R
AATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCA
Celera SNP ID:                hCV8903194
SNP Position Transcript:      10025
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1440|A,1732) ; no_pop(G,-|A,-) ; no_pop(G,128|A,112)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3217,(E,GAA) (K,AAA)



Context              (SEQ ID NO:3359):
CAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAG
R
TGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAA
Celera SNP ID:                hCV11276368
SNP Position Transcript:      10060
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,37|A,1)  total(G,67|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 3228,(R,AGA) (R,AGG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,14|G,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 3228,(R,AGA) (R,AGG)



Context              (SEQ ID NO:3360):
TCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCT
R
GAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAAC
Celera SNP ID:                hCV25626927
SNP Position Transcript:      4768
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,12|A,6)  african american(G,6|A,6)  total(G,18|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1464,(L,CTA) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,4)  african american(G,10|A,2)  total(G,34|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1464,(L,CTA) (L,CTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1464,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3361):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV25473208
SNP Position Transcript:      4116
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,10)  african american(T,0|C,20)  total(T,4|C,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1247,(T,ACT) (I,ATT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1247,(T,ACT) (I,ATT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1247,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3362):
CAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACA
R
ACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAA
Celera SNP ID:                hCV25472511
SNP Position Transcript:      4012
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,9)  african american(G,24|A,12)  total(G,47|A,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1212,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,10)  total(G,54|A,20)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1212,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1212,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:3363):
CTGAGAAATTGGGCACTACAGCTGGACAGATGTGCTCTGGGTTACCTGGTCTTAGTTCAGTTGATATCAACAACTTTGGTGATTCCATTAATGAGAGTGA
S
GGAATACCTTTGAAAAGAAGGCGTGTGTCCTTTGGTGGGCACCTAAGACCTGAACTATTTGATGAAAACTTGCCTCCTAATACGCCTCTCAAAAGGGGAG
Celera SNP ID:                hCV1801141
SNP Position Transcript:      1867
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|C,8)  african american(G,25|C,9)  total(G,55|C,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 497,(D,GAC) (E,GAG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,214|G,758)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 497,(D,GAC) (E,GAG)



Context              (SEQ ID NO:3364):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV1801155
SNP Position Transcript:      8322
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2649,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3365):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV1801161
SNP Position Transcript:      8910
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2845,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3366):
GCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAAGGAAGAGGCCCA
R
TCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAATAGCCTGCAAAT
Celera SNP ID:                hCV25626907
SNP Position Transcript:      6589
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2071,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:3367):
AGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGA
R
CTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAA
Celera SNP ID:                hCV25626918
SNP Position Transcript:      6253
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,0)  african american(G,33|A,1)  total(G,63|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1959,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3368):
ATTCCTCAGAACATGCTGGACGTAATGGCAGAAATGCAGCTGATCCCATTTCTGGGGATTTTAAAGAAATTTCCAGCGTTAAATTAGTGAGCCGTTATGG
W
GAATTGAAGTCTGTTCCCACTACACAATGTCTTGACAATAGCAAAAAAAATGAATCTCCCTTTTGGAAGCTTTATGAGTCAGTGAAGAAAGAGTTGGATG
Celera SNP ID:                hCV25627011
SNP Position Transcript:      1024
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,40)  african american(T,1|A,37)  total(T,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 216,(G,GGA) (G,GGT)



Context              (SEQ ID NO:3369):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV1801153
SNP Position Transcript:      7386
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2337,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3370):
ATGCACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAATCCATGTGGAAGTGAAGGCAC
M
AAGCTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAAACAGCCCCTGCTTCCAGCAGC
Celera SNP ID:                hCV27950553
SNP Position Transcript:      2097
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 574,(Q,CAA) (P,CCA)



Context              (SEQ ID NO:3371):
AGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGC
K
ACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGT
Celera SNP ID:                hCV27103473
SNP Position Transcript:      133
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3372):
AGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGC
K
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
Celera SNP ID:                hCV31968254
SNP Position Transcript:      200
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3373):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV25472811
SNP Position Transcript:      9087
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,26)  african american(G,11|A,23)  total(G,21|A,49)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2904,(Q,CAG) (R,CGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,30)  african american(G,12|A,26)  total(G,22|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2904,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2904,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3374):
CAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAG
S
TGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCA
Celera SNP ID:                hCV15933841
SNP Position Transcript:      9053
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2893,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3375):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV25472813
SNP Position Transcript:      8910
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,27|A,7)  total(G,59|A,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2845,(R,CGT) (H,CAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,8)  total(G,65|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2845,(R,CGT) (H,CAT)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2845,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3376):
GAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGC
W
ATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTA
Celera SNP ID:                hCV25626973
SNP Position Transcript:      5964
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1863,(Q,CAA) (L,CTA)



Context              (SEQ ID NO:3377):
AGAAATTTCCAGCGTTAAATTAGTGAGCCGTTATGGAGAATTGAAGTCTGTTCCCACTACACAATGTCTTGACAATAGCAAAAAAAATGAATCTCCCTTT
W
GGAAGCTTTATGAGTCAGTGAAGAAAGAGTTGGATGTAAAATCACAAAAAGAAAATGTCCTACAGTATTGTAGAAAATCTGGATTACAAACTGATTACGC
Celera SNP ID:                hCV11276369
SNP Position Transcript:      1088
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|A,11)  african american(T,27|A,9)  total(T,48|A,20)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 238,(W,TGG) (R,AGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,25|A,13)  african american(T,27|A,11)  total(T,52|A,24)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 238,(W,TGG) (R,AGG)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,8|T,8)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 238,(W,TGG) (R,AGG)



Context              (SEQ ID NO:3378):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV1801150
SNP Position Transcript:      5051
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1559,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3379):
AAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAG
Y
AGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCT
Celera SNP ID:                hCV25626944
SNP Position Transcript:      3552
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1059,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3380):
GCTCCCCACCTCAGAGAGTTTTGGAGGAAATGTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGA
Y
GGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCC
Celera SNP ID:                hCV25626953
SNP Position Transcript:      2870
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,0|C,38)  total(T,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 832,(R,CGG) (W,TGG)



Context              (SEQ ID NO:3381):
AGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAATATGCACTGACAAGCCCACGACTCA
Y
GAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAATCTTCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV25473986
SNP Position Transcript:      7015
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,31|C,9)  african american(T,30|C,6)  total(T,61|C,15)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2213,(H,CAT) (H,CAC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2213,(H,CAT) (H,CAC)



Context              (SEQ ID NO:3382):
GCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAA
R
TACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAA
Celera SNP ID:                hCV27103487
SNP Position Transcript:      4643
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1423,(V,GTA) (I,ATA)



Context              (SEQ ID NO:3383):
ACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCTGGCTGGCT
K
GAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACA
Celera SNP ID:                hCV27103483
SNP Position Transcript:      4785
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1470,(L,TTG) (W,TGG)



Context              (SEQ ID NO:3384):
TGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAAC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAG
Celera SNP ID:                hCV27474569
SNP Position Transcript:      3577
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1230|A,250) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1067,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3385):
GCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAA
S
CTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTC
Celera SNP ID:                hCV16076553
SNP Position Transcript:      9052
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2892,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3386):
GATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAA
R
TGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAA
Celera SNP ID:                hCV25472870
SNP Position Transcript:      8754
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,12)  total(G,54|A,22)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2793,(S,AGT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2793,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3387):
GACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGAC
R
GCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAA
Celera SNP ID:                hCV25472861
SNP Position Transcript:      8733
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,34|A,2)  total(G,65|A,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2786,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2786,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3388):
GAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAA
Y
AGCCTGCAAATCTCCACCACCAGAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGCTC
Celera SNP ID:                hCV25626915
SNP Position Transcript:      6678
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,4)  african american(T,36|C,0)  total(T,70|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2101,(I,ATA) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,5)  african american(T,37|C,1)  total(T,72|C,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2101,(I,ATA) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2101,(I,ATA) (T,ACA)



Context              (SEQ ID NO:3389):
GCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCACACTGAGGAATCAATGACTAACGATAAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACC
Y
AGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCAAGACATCCCTGGGGAAAGTGGGCGTGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACA
Celera SNP ID:                hCV15933827
SNP Position Transcript:      5241
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1622,(P,CCA) (L,CTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1622,(P,CCA) (L,CTA)



Context              (SEQ ID NO:3390):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV25473477
SNP Position Transcript:      5051
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,7)  african american(G,35|A,1)  total(G,64|A,8)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1559,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,37|A,1)  total(G,67|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1559,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,37|A,1)  total(G,68|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1559,(V,GTG) (M,ATG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1559,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3391):
GTAAATGGGTCTGTTATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGA
R
TGGAAGGAAGTCAACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAAAGCT
Celera SNP ID:                hCV25474629
SNP Position Transcript:      687
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,16)  african american(G,20|A,14)  total(G,44|A,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 104,(S,AGT) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1988|A,1012) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 104,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3392):
ATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGC
Y
CAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCG
Celera SNP ID:                hCV25626965
SNP Position Transcript:      8395
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2673,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3393):
GAGAGACAGCAGGAGATGGAAAGAGCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCC
R
AGAACACCTAAGGAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACA
Celera SNP ID:                hCV25626917
SNP Position Transcript:      6565
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,36)  african american(G,2|A,30)  total(G,2|A,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2063,(P,CCA) (P,CCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,3|A,35)  total(G,3|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2063,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3394):
AAGGCCCAACCCCTAGAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAG
M
CTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCA
Celera SNP ID:                hCV25626984
SNP Position Transcript:      4854
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,35|A,3)  total(C,73|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1493,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3395):
GACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAACC
R
TCAGTAGGTGAAGAGAAAGACATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCACAAA
Celera SNP ID:                hCV25626993
SNP Position Transcript:      4279
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 1301,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3396):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV25472700
SNP Position Transcript:      7386
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|A,1)  african american(C,22|A,4)  total(C,61|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2337,(T,ACT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2337,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3397):
GGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTC
W
TTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAA
Celera SNP ID:                hCV8903192
SNP Position Transcript:      9701
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,92) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 3109,(F,TTT) (I,ATT)



Context              (SEQ ID NO:3398):
CATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGA
Y
CTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTG
Celera SNP ID:                hCV16076543
SNP Position Transcript:      9127
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 2917,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3399):
ACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCA
Y
CTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCAC
Celera SNP ID:                hCV25626964
SNP Position Transcript:      8381
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 2669,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3400):
GGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTG
Y
AAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATTGTTGAGTGCATCCTA
Celera SNP ID:                hCV25626946
SNP Position Transcript:      2991
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,35)  african american(T,1|C,37)  total(T,4|C,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 872,(A,GCA) (V,GTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,37)  total(T,4|C,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 872,(A,GCA) (V,GTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 872,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3401):
GCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGC
Y
TGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCC
Celera SNP ID:                hCV25626906
SNP Position Transcript:      9974
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,31)  african american(T,1|C,35)  total(T,4|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 3200,(L,CTG) (L,TTG)



Context              (SEQ ID NO:3402):
GAAACAAACGCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGAACTCCAGTGCAGAAA
S
TGGACCAGCCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTT
Celera SNP ID:                hCV25626936
SNP Position Transcript:      5792
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,3|C,35)  total(G,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1806,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3403):
GACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACA
R
AGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAACACCATCAGCAGGGAAAGCCATGCTTACGCC
Celera SNP ID:                hCV25626937
SNP Position Transcript:      3806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,1|A,35)  total(G,3|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1144,(K,AAG) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,1|A,35)  total(G,4|A,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1144,(K,AAG) (E,GAG)



Context              (SEQ ID NO:3404):
GAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCG
R
CCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTG
Celera SNP ID:                hCV31968253
SNP Position Transcript:      134
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3405):
AGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGA
H
TCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCA
Celera SNP ID:                hCV25626992
SNP Position Transcript:      4132
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|C,5)  african american(A,2|C,10)  total(A,4|C,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:432, 1252,(D,GAC) (E,GAA)



Context              (SEQ ID NO:3406):
AACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGTTATTGATGAGCC
W
GTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAATTTCCAA
Celera SNP ID:                hCV27103475
SNP Position Transcript:      613
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:432, 79,(P,CCA) (P,CCT)



Context              (SEQ ID NO:3407):
TTGTGATAAGTTCTAGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTGGATTTGCTGG
S
TCTGAATCGGCTTCATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCTGGGCCAAGGTT
Celera SNP ID:                hCV11276365
SNP Position Transcript:      10287
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,7|C,2) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3408):
GGTTTGCCCTCAGCTTTGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTC
R
TTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAG
Celera SNP ID:                hCV25626898
SNP Position Transcript:      10484
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,31|A,3)  total(G,69|A,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3409):
TGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTCGTTTGTTTGCCTATGT
Y
CTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAGCGCACGGATGAATGGA
Celera SNP ID:                hCV27103492
SNP Position Transcript:      10500
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3410):
TCGTTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGAT
R
AGCGCACGGATGAATGGAGCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCT
Celera SNP ID:                hCV15933839
SNP Position Transcript:      10582
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3411):
TGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCTATTTTTGATGTCCTTTCCTTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACT
Y
GTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTAAGGAGTGACTCGTGGCTTGCCTTGGTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCA
Celera SNP ID:                hCV25626897
SNP Position Transcript:      10738
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,3|C,33)  total(T,3|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3412):
CAGCCCGATGCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCTTCAGCCACGATTTCA
R
GATCGCTTCCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAACTCGTTCATCTTCATTT
Celera SNP ID:                hCV29345911
SNP Position Transcript:      11092
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3413):
CAGACTTGTAGATATAACTCGTTCATCTTCATTTACTTTCCACTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAG
R
TCACCTGTCTGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGG
Celera SNP ID:                hCV15812479
SNP Position Transcript:      11259
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3414):
TGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCC
Y
GTCTCCACGTTTGTTTCCCCAGTGTCTGGCGGGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATA
Celera SNP ID:                hCV1801170
SNP Position Transcript:      11369
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,92) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3415):
GAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACC
M
ACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTT
Celera SNP ID:                hCV31968266
SNP Position Transcript:      12118
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3416):
CTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCT
S
TGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTC
Celera SNP ID:                hCV15869188
SNP Position Transcript:      12149
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1266|G,222) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3417):
GTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTG
S
GATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCC
Celera SNP ID:                hCV1801171
SNP Position Transcript:      12240
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,376|G,458) ; no_pop(C,7|G,6) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3418):
TTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCC
W
CCTGCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGG
Celera SNP ID:                hCV8903195
SNP Position Transcript:      12369
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3419):
TTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCC
W
GCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCA
Celera SNP ID:                hCV8903196
SNP Position Transcript:      12372
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|A,1) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3420):
CCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTG
Y
ATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801172
SNP Position Transcript:      12603
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,54|C,134) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Context              (SEQ ID NO:3421):
TAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTGTATTTCCTGGTTACT
S
TATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801173
SNP Position Transcript:      12618
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,36|C,56) ; no_pop(G,4|C,1) ; no_pop(G,-|C,-) ; no_pop(G,33|C,
87)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:432, None



Gene Number:                  70
Celera Gene:                  hCG39602 - 145000147474422
Celera Transcript:            hCT2320220 - 145000147474460
Public Transcript Accession:
Celera Protein:               hCP1897565 - 197000069450829
Public Protein Accession:
Gene Symbol:                  MKI67
Protein Name:                  antigen identified by monoclonal antibody Ki-67
Celera Genomic Axis:          GA_x54KRFTF114(4254619..4296355)
Chromosome:                   10
OMIM NUMBER:                  176741
OMIM Information:


Transcript Sequence  (SEQ ID NO:172):
GGGCGGGAGGACTCGACTCGGTGGGAGCCGCTAGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCA
GCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCG
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
AATTTGCTTCTGGCCTTCCCCTACGGATTATACCTGGCCTTCCCCTACGGATTATACTCAACTTACTGTTTAGAAAATGTGGCCCACGAGACGCCTGGTT
ACTATCAAAAGGAGCGGGGTCGACGGTCCCCACTTTCCCCTGAGCCTCAGCACCTGCTTGTTTGGAAGGGGTATTGAATGTGACATCCGTATCCAGCTTC
CTGTTGTGTCAAAACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGT
TATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCA
ACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAAAGCTCAAGATTCCAAGG
CCTATTCAAAAATCACTGAAGGAAAAGTTTCAGGAAATACCTGAACTATTTGATGAAAACTTGCCTCCTAATACGCCTCTCAAAAGGGGAGAAGCCCCAA
CCAAAAGAAAGTCTCTGGTAATGCACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAAT
CCATGTGGAAGTGAAGGCACAAAGCTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAA
ACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCTATCAGCCGAA
GTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGTAGTAAAACT
TGGTGCAAAACAAACACAAACTAAAGTCATAAAACATGGTCCTCAAAGGTCAATGAACAAAAGGCAAAGAAGACCTGCTACTCCAAAGAAGCCTGTGGGC
GAAGTTCACAGTCAATTTAGTACAGGCCACGCAAACTCTCCTTGTACCATAATAATAGGGAAAGCTCATACTGAAAAAGTACATGTGCCTGCTCGACCCT
ACAGAGTGCTCAACAACTTCATTTCCAACCAAAAAATGGACTTTAAGGAAGATCTTTCAGGAATAGCTGAAATGTTCAAGACCCCAGTGAAGGAGCAACC
GCAGTTGACAAGCACATGTCACATCGCTATTTCAAATTCAGAGAATTTGCTTGGAAAACAGTTTCAAGGAACTGATTCAGGAGAAGAACCTCTGCTCCCC
ACCTCAGAGAGTTTTGGAGGAAATGTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGT
GTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAA
AACAGTATCCACTGCAAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATT
GTTGAGTGCATCCTAAAAAGAGGTCAGAAGGCAACACTACTACAACAAAGGAGAGAAGGAGAGATGAAGGAAATAGAAAGACCTTTTGAGACATATAAGG
AAAATATTGAATTAAAAGAAAACGATGAAAAGATGAAAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCT
CAAGAGCTTGCCTGATACAGAACTCATGAAAGACACGGCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGC
AAAATCACTAAAATGCCCTGCCAGTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTG
TGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAAC
GTTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAA
GACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCAC
CAGAATCAGTGGACACTCCAACAAGCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAAC
ACCATCAGCAGGGAAAGCCATGCTTACGCCCAAACCAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTG
GCAGGAACTTTACCTGGCAGCAAAAGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTC
CTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCA
ACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAA
CCATCAGTAGGTGAAGAGAAAGACATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCAC
AAACTCCTAAGGAAGAGGCCCAGGCTCTGGAAGACCTGACTGGCTTTAAAGAGCTCTTCCAGACCCCTGGTCATACTGAAGAAGCAGTGGCTGCTGGCAA
AACTACTAAAATGCCCTGCGAATCTTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTA
CAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGT
TTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCT
GGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCA
GTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAG
CAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAA
CTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCAC
ACTGAGGAATCAATGACTAACGATAAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACCCAGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCA
AGACATCCCTGGGGAAAGTGGGCGTGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACATCAGGAGAGACTACACACACACACACAGAGCCAAC
AGGAGATGGTAAGAGCATGAAAGCATTTATGGAGTCTCCAAAGCAGATCTTAGACTCAGCAGCAAGTCTAACTGGCAGCAAGAGGCAGCTGAGAACTCCT
AAGGGAAAGTCTGAAGTCCCTGAAGACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAACGAAAAAACTACCA
AAGTATCCTACAGAGCTTCACAGCCAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAGACACTGAAGAAGA
ATTTTTAGCATTTAGGAAACAAACGCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGA
ACTCCAGTGCAGAAACTGGACCAGCCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTG
GCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGC
GGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCA
GGCAAAGCCATGCACACGCCTAAAGCAGCAGTAGGTGAAGAGAAAGACATCAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATT
TACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACAC
TGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAG
ATATCCTTGGGGAAAGTAGGTGTGAAAGAAGAGGTCCTACCAGTCGGCAAGCTCACACAGACGTCAGGGAAGACCACACAGACACACAGAGAGACAGCAG
GAGATGGAAAGAGCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAA
GGAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAA
ATAGCCTGCAAATCTCCACCACCAGAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGC
TCTCAGCCCTGAAGCAGCTCACACAGACCACACACACAGACAAAGTACCAGGAGATGAGGATAAAGGCATCAACGTGTTCAGGGAAACTGCAAAACAGAA
ACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCAGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTC
TTCCAGACACCAATATGCACTGACAAGCCCACGACTCATGAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAA
TCTTCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGCAGACGTAGAGGAAGAATCCTTAGCACTCAGGAAACGAACACCATCAGTAGGGAAAGCTATGGA
CACACCCAAACCAGCAGGAGGTGATGAGAAAGACATGAAAGCATTTATGGGAACTCCAGTGCAGAAATTGGACCTGCCAGGAAATTTACCTGGCAGCAAA
AGATGGCCACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTG
ATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGC
AGACGTAGAGGAAGAATTTTTAGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGGACACACCAAAACCAGCAGTAAGTGATGAGAAAAATATC
AACACATTTGTGGAAACTCCAGTGCAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACAGCCACAGACTCCTAAGGAAAAGGCTGAGGCTC
TAGAGGACCTGGTTGGCTTCAAAGAACTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACTGATGACAAAATCACAGAAGTATCCTGTAAATCTCC
ACAGCCAGAGTCATTCAAAACCTCAAGAAGCTCCAAGCAAAGGCTCAAGATACCCCTGGTGAAAGTGGACATGAAAGAAGAGCCCCTAGCAGTCAGCAAG
CTCACACGGACATCAGGGGAGACTACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGCGTTTAAGGAGTCTCCAAAGCAGATCCTGG
ACCCAGCAGCAAGTGTAACTGGTAGCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAGACCTGGTTGACTTCAAAGAGCTCTTCTC
AGCACCAGGTCACACTGAAGAGTCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACA
AAGAGATGCCCCAAGACACGTCCCAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACA
AAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAG
AGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAA
GCCACTAAAATACCCTGCGAATCTCCCCCACTAGAAGTGGTAGACACCACAGCAAGCACAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAA
AAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAA
GGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTA
GCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACA
CCGCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGA
GACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGC
AGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAAC
TGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATCCAGAAGAGTTCTTCGGGCCCCTAA
AGTAGAACCCGTGGGAGACGTGGTAAGCACCAGAGACCCTGTAAAATCACAAAGCAAAAGCAACACTTCCCTGCCCCCACTGCCCTTCAAGAGGGGAGGT
GGCAAAGATGGAAGCGTCACGGGAACCAAGAGGCTGCGCTGCATGCCAGCACCAGAGGAAATTGTGGAGGAGCTGCCAGCCAGCAAGAAGCAGAGGGTTG
CTCCCAGGGCAAGAGGCAAATCATCCGAACCCGTGGTCATCATGAAGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAG
CAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAG
GCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTC
AGAATCCAGATGATGGAGCCCGGAAACCCATACCTAGAGACAAAGTCAGTGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCC
TAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTG
AGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAA
AGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAAT
AAAGTTAGTTTTGTGATAAGTTCTAGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTG
GATTTGCTGGGTCTGAATCGGCTTCATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCT
GGGCCAAGGTTTGCCCTCAGCTTTGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTG
TGTCGTCGTTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAA
TGGATGAGCGCACGGATGAATGGAGCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGAC
AGTCCTATTTTTGATGTCCTTTCCTTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACTCGTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTA
AGGAGTGACTCGTGGCTTGCCTTGGTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCACCTGAGACATTCTCCACCCGCGGAATCTCAGGGTCCCA
GGCTGTGGGCCATCACGACCTCAAACTGGCTCCTAATCTCCAGCTTTCCTGTCATTGAAAGCTTCGGAAGTTTACTGGCTCTGCTCCCGCCTGTTTTCTT
TCTGACTCTATCTGGCAGCCCGATGCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCT
TCAGCCACGATTTCAGGATCGCTTCCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAAC
TCGTTCATCTTCATTTACTTTCCACTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAGGTCACCTGTCTGGATTCC
TCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCCTGTCTCCA
CGTTTGTTTCCCCAGTGTCTGGCGGGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATATTGGCTG
CCATGATAGGGTTCTCACAGCGTCATCCATGATCGTAAGGGAGAATGACATTCTGCTTGAGGGAGGGAATAGAAAGGGGCAGGGAGGGGACATCTGAGGG
CTTCACAGGGCTGCAAAGGGTACAGGGATTGCACCAGGGCAGAACAGGGGAGGGTGTTCAAGGAAGAGTGGCTCTTAGCAGAGGCACTTTGGAAGGTGTG
AGGCATAAATGCTTCCTTCTACGTAGGCCAACCTCAAAACTTTCAGTAGGAATGTTGCTATGATCAAGTTGTTCTAACACTTTAGACTTAGTAGTAATTA
TGAACCTCACATAGAAAAATTTCATCCAGCCATATGCCTGTGGAGTGGAATATTCTGTTTAGTAGAAAAATCCTTTAGAGTTCAGCTCTAACCAGAAATC
TTGCTGAAGTATGTCAGCACCTTTTCTCACCCTGGTAAGTACAGTATTTCAAGAGCACGCTAAGGGTGGTTTTCATTTTACAGGGCTGTTGATGATGGGT
TAAAAATGTTCATTTAAGGGCTACCCCCGTGTTTAATAGATGAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATAC
TGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCC
ATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACA
CTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCCTGCCC
CACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCAGGTT
CTTAGTTTGCCTGGAATTGTTCTGTACCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAG
TTTTGTTCATTCATGAGGGCCGACTGTATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAA
AA


Protein Sequence     (SEQ ID NO:433):
MKMKVFRVEGSQLNFQEKYVNRSQHVVSQDLASLLTLMRKLKIPRPIQKSLKEKFQEIPELFDENLPPNTPLKRGEAPTKRKSLVMHTPPVLKKIIKEQP
QPSGKQESGSEIHVEVKAQSLVISPPAPSPRKTPVASDQRRRSCKTAPASSSKSQTEVPKRGGRKSGNLPSKRVSISRSQHDILQMICSKRRSGASEANL
IVAKSWADVVKLGAKQTQTKVIKHGPQRSMNKRQRRPATPKKPVGEVHSQFSTGHANSPCTIIIGKAHTEKVHVPARPYRVLNNFISNQKMDFKEDLSGI
AEMFKTPVKEQPQLTSTCHIAISNSENLLGKQFQGTDSGEEPLLPTSESFGGNVFFSAQNAAKQPSDKCSASPPLRRQCIRENGNVAKTPRNTYKMTSLE
TKTSDTETEPSKTVSTANRSGRSTEFRNIQKLPVESKSEETNTEIVECILKRGQKATLLQQRREGEMKEIERPFETYKENIELKENDEKMKAMKRSRTWG
QKCAPMSDLTDLKSLPDTELMKDTARGQNLLQTQDHAKAPKSEKGKITKMPCQSLQPEPINTPTHTKQQLKASLGKVGVKEELLAVGKFTRTSGETTHTH
REPAGDGKSIRTFKESPKQILDPAARVTGMKKWPRTPKEEAQSLEDLAGFKELFQTPGPSEESMTDEKTTKIACKSPPPESVDTPTSTKQWPKRSLRKAD
VEEEFLALRKLTPSAGKAMLTPKPAGGDEKDIKAFMGTPVQKLDLAGTLPGSKRQLQTPKEKAQALEDLAGFKELFQTPGHTEELVAAGKTTKIPCDSPQ
SDPVDTPTSTKQRPKRSIRKADVEGELLACRNLMPSAGKAMHTPKPSVGEEKDIIIFVGTPVQKLDLTENLTGSKRRPQTPKEEAQALEDLTGFKELFQT
PGHTEEAVAAGKTTKMPCESSPPESADTPTSTRRQPKTPLEKRDVQKELSALKKLTQTSGETTHTDKVPGGEDKSINAFRETAKQKLDPAASVTGSKRHP
KTKEKAQPLEDLAGLKELFQTPVCTDKPTTHEKTTKIACRSQPDPVDTPTSSKPQSKRSLRKVDVEEEFFALRKRTPSAGKAMHTPKPAVSGEKNIYAFM
GTPVQKLDLTENLTGSKRRLQTPKEKAQALEDLAGFKELFQTRGHTEESMTNDKTAKVACKSSQPDPDKNPASSKRRLKTSLGKVGVKEELLAVGKLTQT
SGETTHTHTEPTGDGKSMKAFMESPKQILDSAASLTGSKRQLRTPKGKSEVPEDLAGFIELFQTPSHTKESMTNEKTTKVSYRASQPDLVDTPTSSKPQP
KRSLRKADTEEEFLAFRKQTPSAGKAMHTPKPAVGEEKDINTFLGTPVQKLDQPGNLPGSNRRLQTRKEKAQALEELTGFRELFQTPCTDNPTTDEKTTK
KILCKSPQSDPADTPTNTKQRPKRSLKKADVEEEFLAFRKLTPSAGKAMHTPKAAVGEEKDINTFVGTPVEKLDLLGNLPGSKRRPQTPKEKAKALEDLA
GFKELFQTPGHTEESMTDDKITEVSCKSPQPDPVKTPTSSKQRLKISLGKVGVKEEVLPVGKLTQTSGKTTQTHRETAGDGKSIKAFKESAKQMLDPANY
GTGMERWPRTPKEEAQSLEDLAGFKELFQTPDHTEESTTDDKTTKIACKSPPPESMDTPTSTRRRPKTPLGKRDIVEELSALKQLTQTTHTDKVPGDEDK
GINVFRETAKQKLDPAASVTGSKRQPRTPKGKAQPLEDLAGLKELFQTPICTDKPTTHEKTTKIACRSPQPDPVGTPTIFKPQSKRSLRKADVEEESLAL
RKRTPSVGKAMDTPKPAGGDEKDMKAFMGTPVQKLDLPGNLPGSKRWPQTPKEKAQALEDLAGFKELFQTPGTDKPTTDEKTTKIACKSPQPDPVDTPAS
TKQRPKRSLRKADVEEEFLALRKRTPSAGKAMDTPKPAVSDEKNINTFVETPVQKLDLLGNLPGSKRQPQTPKEKAEALEDLVGFKELFQTPGHTEESMT
DDKITEVSCKSPQPESFKTSRSSKQRLKIPLVKVDMKEEPLAVSKLTRTSGETTQTHTEPTGDSKSIKAFKESPKQILDPAASVTGSRRQLRTRKEKARA
LEDLVDFKELFSAPGHTEESMTIDKNTKIPCKSPPPELTDTATSTKRCPKTRPRKEVKEELSAVERLTQTSGQSTHTHKEPASGDEGIKVLKQRAKKKPN
PVEEEPSRRRPRAPKEKAQPLEDLAGFTELSETSGHTQESLTAGKATKIPCESPPLEVVDTTASTKRHLRTRVQKVQVKEEPSAVKFTQTSGETTDADKE
PAGEDKGIKALKESAKQTPAPAASVTGSRRRPRAPRESAQAIEDLAGFKDPAAGHTEESMTDDKTTKIPCKSSPELEDTATSSKRRPRTRAQKVEVKEEL
LAVGKLTQTSGETTHTDKEPVGEGKGTKAFKQPAKRKLDAEDVIGSRRQPRAPKEKAQPLEDLASFQELSQTPGHTEELANGAADSFTSAPKQTPDSGKP
LKISRRVLRAPKVEPVGDVVSTRDPVKSQSKSNTSLPPLPFKRGGGKDGSVTGTKRLRCMPAPEEIVEELPASKKQRVAPRARGKSSEPVVIMKRSLRTS
AKRIEPAEELNSNDMKTNKEEHKLQDSVPENKGISLRSRRQNKTEAEQQITEVFVLAERIEINRNEKKPMKTSPEMDIQNPDDGARKPIPRDKVSENKRC
LRSARQNESSQPKVAEESGGQKSAKVLMQNQKGKGEAGNSDSMCLRSRKTKSQPAASTLESESVQRVTRSVKRCAENPKKAEDNVCVKKIRTRSHRDSED
I*



SNP Information


Context              (SEQ ID NO:3422):
AGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAA
R
ATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGA
Celera SNP ID:                hCV15812489
SNP Position Transcript:      8589
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2642,(N,AAT) (D,GAT)



Context              (SEQ ID NO:3423):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV25473769
SNP Position Transcript:      7246
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,33|A,3)  total(G,68|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2194,(R,CGT) (H,CAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2194,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3424):
GCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCAC
R
ACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCA
Celera SNP ID:                hCV25474782
SNP Position Transcript:      4844
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,11)  total(G,59|A,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1393,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1393,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3425):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV1801147
SNP Position Transcript:      2424
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,6)  african american(G,30|A,6)  total(G,58|A,12)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 587,(G,GGC) (S,AGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,29|A,5)  total(G,59|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 587,(G,GGC) (S,AGC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,1728|A,384)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 587,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3426):
ATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCT
S
TGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTGCAAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCT
Celera SNP ID:                hCV1801146
SNP Position Transcript:      1860
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|C,30)  african american(G,12|C,26)  total(G,22|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 399,(L,CTG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,8|C,30)  african american(G,12|C,26)  total(G,20|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 399,(L,CTG) (V,GTG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,138|G,46) ; no_pop(C,10|G,8) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 399,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3427):
CTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGA
S
GAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAGATAT
Celera SNP ID:                hCV25626916
SNP Position Transcript:      5204
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|C,0)  african american(G,33|C,1)  total(G,69|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1513,(E,GAG) (D,GAC)



Context              (SEQ ID NO:3428):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV8903188
SNP Position Transcript:      1191
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 176,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3429):
TGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAAC
R
GCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCA
Celera SNP ID:                hCV25474272
SNP Position Transcript:      4927
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,29|A,9)  total(G,59|A,19)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1421,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1421,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3430):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV15834772
SNP Position Transcript:      2424
SNP Source:                   Applera/HGBASE/HapMap/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 587,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3431):
GACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAG
R
ACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAAT
Celera SNP ID:                hCV25473484
SNP Position Transcript:      8605
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,33)  african american(G,10|A,26)  total(G,11|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2647,(E,GAA) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,35)  african american(G,10|A,26)  total(G,11|A,61)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2647,(E,GAA) (G,GGA)



Context              (SEQ ID NO:3432):
GCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCT
M
AAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATC
Celera SNP ID:                hCV25626966
SNP Position Transcript:      8076
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|A,0)  african american(C,37|A,1)  total(C,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2471,(Q,CAA) (K,AAA)



Context              (SEQ ID NO:3433):
CTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACAC
Y
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
Celera SNP ID:                hCV25626963
SNP Position Transcript:      7802
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2379,(T,ACC) (T,ACT)



Context              (SEQ ID NO:3434):
TGAAAGAAGAGCCCCTAGCAGTCAGCAAGCTCACACGGACATCAGGGGAGACTACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCAAGTGTAACTGGTAGCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAG
Celera SNP ID:                hCV25626926
SNP Position Transcript:      6872
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2069,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3435):
ACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGC
Y
CAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCAGCA
Celera SNP ID:                hCV25474283
SNP Position Transcript:      4930
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1422,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3436):
ACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTA
Y
GCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAG
Celera SNP ID:                hCV25626975
SNP Position Transcript:      3956
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,1|C,31)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1097,(Y,TAC) (Y,TAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,1|C,33)  total(T,1|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1097,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3437):
GCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACT
Y
AGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGA
Celera SNP ID:                hCV25626983
SNP Position Transcript:      3881
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,30)  total(T,2|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1072,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1072,(L,CTC) (L,CTT)



Context              (SEQ ID NO:3438):
ACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGA
M
AGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAAC
Celera SNP ID:                hCV27103489
SNP Position Transcript:      3850
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1062,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3439):
AAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCCCTCTGAGGAATCAATGA
S
TGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAA
Celera SNP ID:                hCV31968263
SNP Position Transcript:      2659
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 665,(T,ACT) (S,AGT)



Context              (SEQ ID NO:3440):
ACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAA
S
AACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAGTTAGTTTTGTGATAAGTTCTAGTGCAGTTTTTG
Celera SNP ID:                hCV16076591
SNP Position Transcript:      9037
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2791,(R,AGA) (T,ACA)



Context              (SEQ ID NO:3441):
TCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGA
R
GGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAG
Celera SNP ID:                hCV25626905
SNP Position Transcript:      9004
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2780,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3442):
CGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAG
R
TAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGT
Celera SNP ID:                hCV1801157
SNP Position Transcript:      7579
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,1446|G,486)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2305,(D,GAT) (G,GGT)



Context              (SEQ ID NO:3443):
TGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCGAATCTCCCCCACTAGAAGTGGTAGACACCACAGCAAGC
M
CAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGA
Celera SNP ID:                hCV1801156
SNP Position Transcript:      7458
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,30|A,154) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2265,(T,ACA) (P,CCA)



Context              (SEQ ID NO:3444):
GAGTCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACAC
R
TCCCAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGAT
Celera SNP ID:                hCV25626974
SNP Position Transcript:      7120
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2152,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3445):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV1801149
SNP Position Transcript:      3040
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 792,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3446):
CAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCT
M
TAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCC
Celera SNP ID:                hCV25626925
SNP Position Transcript:      5151
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|A,0)  african american(C,32|A,2)  total(C,62|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1496,(L,CTA) (I,ATA)



Context              (SEQ ID NO:3447):
ACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTG
K
CTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTG
Celera SNP ID:                hCV25626994
SNP Position Transcript:      2977
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|G,32)  african american(T,1|G,35)  total(T,3|G,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 771,(G,GGC) (V,GTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,1|G,37)  total(T,4|G,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 771,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3448):
AAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCTCAAGAGCTTGCCTGATACAGAACTCATGAAAGACAC
R
GCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGCAAAATCACTAAAATGCCCTGCCAGTCATTACAACCAG
Celera SNP ID:                hCV25626945
SNP Position Transcript:      2237
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,33|A,1)  total(G,65|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 524,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,3)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 524,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3449):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV27103479
SNP Position Transcript:      1191
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,445|C,15) ; no_pop(A,6|C,2) ; no_pop(A,1221|C,3138) ; no_pop(
A,112|C,8)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 176,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3450):
ATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAAACCCATACCTAGAGACAAAGTCA
S
TGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATG
Celera SNP ID:                hCV8903193
SNP Position Transcript:      8749
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,18)  african american(G,17|C,21)  total(G,35|C,39)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2695,(S,AGT) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,20)  african american(G,18|C,20)  total(G,36|C,40)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2695,(S,AGT) (T,ACT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,344|G,344) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2695,(S,AGT) (T,ACT)



Context              (SEQ ID NO:3451):
AGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTC
R
GTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAG
Celera SNP ID:                hCV1801164
SNP Position Transcript:      8546
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,8)  african american(G,35|A,3)  total(G,63|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2627,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2627,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3452):
AAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGC
Y
CAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCAT
Celera SNP ID:                hCV25472876
SNP Position Transcript:      7682
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|C,28)  african american(T,11|C,21)  total(T,21|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2339,(A,GCC) (A,GCT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2339,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3453):
TCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACACGTC
Y
CAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAG
Celera SNP ID:                hCV1801154
SNP Position Transcript:      7123
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,19|C,13)  african american(T,19|C,15)  total(T,38|C,28)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2153,(P,CCC) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|T,114) ; no_pop(C,442|T,530) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2153,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3454):
AGCTGAGAACTCCTAAGGGAAAGTCTGAAGTCCCTGAAGACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAA
Y
GAAAAAACTACCAAAGTATCCTACAGAGCTTCACAGCCAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV12049035
SNP Position Transcript:      4487
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|C,29)  african american(T,3|C,35)  total(T,10|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1274,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,30)  african american(T,3|C,35)  total(T,11|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1274,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,146|T,38) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1274,(N,AAC) (N,AAT)



Context              (SEQ ID NO:3455):
AAAATGCCCTGCGAATCTTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGG
W
GCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAA
Celera SNP ID:                hCV25472740
SNP Position Transcript:      3508
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,31)  african american(T,2|A,36)  total(T,9|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 948,(E,GAG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,33)  african american(T,2|A,36)  total(T,9|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 948,(E,GAG) (V,GTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2454|T,534) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 948,(E,GAG) (V,GTG)



Context              (SEQ ID NO:3456):
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
S
CACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGC
Celera SNP ID:                hCV15869189
SNP Position Transcript:      7903
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,506|C,2410) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2413,(T,ACC) (S,AGC)



Context              (SEQ ID NO:3457):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV1801163
SNP Position Transcript:      8011
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2449,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3458):
ATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAG
Y
CATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCA
Celera SNP ID:                hCV25626955
SNP Position Transcript:      7687
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,33)  total(T,1|C,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2341,(A,GCC) (V,GTC)



Context              (SEQ ID NO:3459):
CCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAG
S
AAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAA
Celera SNP ID:                hCV25626935
SNP Position Transcript:      3848
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1061,(R,AGG) (S,AGC)



Context              (SEQ ID NO:3460):
AAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACA
S
ATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCA
Celera SNP ID:                hCV25627001
SNP Position Transcript:      3561
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 966,(D,GAT) (H,CAT)



Context              (SEQ ID NO:3461):
TCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGA
W
ACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTG
Celera SNP ID:                hCV25626982
SNP Position Transcript:      3886
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,34)  african american(T,1|A,31)  total(T,1|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1074,(K,AAA) (I,ATA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,40)  african american(T,1|A,37)  total(T,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1074,(K,AAA) (I,ATA)



Context              (SEQ ID NO:3462):
CAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACG
R
CTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAA
Celera SNP ID:                hCV27103486
SNP Position Transcript:      4845
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1394,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3463):
GCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGC
R
AATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCA
Celera SNP ID:                hCV8903194
SNP Position Transcript:      8949
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1440|A,1732) ; no_pop(G,-|A,-) ; no_pop(G,128|A,112)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2762,(E,GAA) (K,AAA)



Context              (SEQ ID NO:3464):
CAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAG
R
TGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAA
Celera SNP ID:                hCV11276368
SNP Position Transcript:      8984
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,37|A,1)  total(G,67|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2773,(R,AGA) (R,AGG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,14|G,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2773,(R,AGA) (R,AGG)



Context              (SEQ ID NO:3465):
TCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCT
R
GAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAAC
Celera SNP ID:                hCV25626927
SNP Position Transcript:      3692
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,12|A,6)  african american(G,6|A,6)  total(G,18|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1009,(L,CTA) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,4)  african american(G,10|A,2)  total(G,34|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1009,(L,CTA) (L,CTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1009,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3466):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV25473208
SNP Position Transcript:      3040
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,10)  african american(T,0|C,20)  total(T,4|C,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 792,(T,ACT) (I,ATT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 792,(T,ACT) (I,ATT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 792,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3467):
CAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACA
R
ACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAA
Celera SNP ID:                hCV25472511
SNP Position Transcript:      2936
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,9)  african american(G,24|A,12)  total(G,47|A,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 757,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,10)  total(G,54|A,20)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 757,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 757,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:3468):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV1801155
SNP Position Transcript:      7246
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2194,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3469):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV1801161
SNP Position Transcript:      7834
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2390,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3470):
GCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAAGGAAGAGGCCCA
R
TCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAATAGCCTGCAAAT
Celera SNP ID:                hCV25626907
SNP Position Transcript:      5513
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1616,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:3471):
AGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGA
R
CTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAA
Celera SNP ID:                hCV25626918
SNP Position Transcript:      5177
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,0)  african american(G,33|A,1)  total(G,63|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1504,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3472):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV1801153
SNP Position Transcript:      6310
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1882,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3473):
ATGCACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAATCCATGTGGAAGTGAAGGCAC
M
AAGCTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAAACAGCCCCTGCTTCCAGCAGC
Celera SNP ID:                hCV27950553
SNP Position Transcript:      1021
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 119,(Q,CAA) (P,CCA)



Context              (SEQ ID NO:3474):
AGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGC
K
ACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGT
Celera SNP ID:                hCV27103473
SNP Position Transcript:      133
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3475):
AGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGC
K
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
Celera SNP ID:                hCV31968254
SNP Position Transcript:      200
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3476):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV25472811
SNP Position Transcript:      8011
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,26)  african american(G,11|A,23)  total(G,21|A,49)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2449,(Q,CAG) (R,CGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,30)  african american(G,12|A,26)  total(G,22|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2449,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2449,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3477):
CAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAG
S
TGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCA
Celera SNP ID:                hCV15933841
SNP Position Transcript:      7977
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2438,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3478):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV25472813
SNP Position Transcript:      7834
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,27|A,7)  total(G,59|A,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2390,(R,CGT) (H,CAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,8)  total(G,65|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2390,(R,CGT) (H,CAT)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2390,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3479):
GAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGC
W
ATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTA
Celera SNP ID:                hCV25626973
SNP Position Transcript:      4888
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1408,(Q,CAA) (L,CTA)



Context              (SEQ ID NO:3480):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV1801150
SNP Position Transcript:      3975
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1104,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3481):
AAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAG
Y
AGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCT
Celera SNP ID:                hCV25626944
SNP Position Transcript:      2476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 604,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3482):
GCTCCCCACCTCAGAGAGTTTTGGAGGAAATGTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGA
Y
GGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCC
Celera SNP ID:                hCV25626953
SNP Position Transcript:      1794
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,0|C,38)  total(T,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 377,(R,CGG) (W,TGG)



Context              (SEQ ID NO:3483):
AGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAATATGCACTGACAAGCCCACGACTCA
Y
GAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAATCTTCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV25473986
SNP Position Transcript:      5939
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,31|C,9)  african american(T,30|C,6)  total(T,61|C,15)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1758,(H,CAT) (H,CAC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1758,(H,CAT) (H,CAC)



Context              (SEQ ID NO:3484):
GCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAA
R
TACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAA
Celera SNP ID:                hCV27103487
SNP Position Transcript:      3567
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 968,(V,GTA) (I,ATA)



Context              (SEQ ID NO:3485):
ACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCTGGCTGGCT
K
GAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACA
Celera SNP ID:                hCV27103483
SNP Position Transcript:      3709
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1015,(L,TTG) (W,TGG)



Context              (SEQ ID NO:3486):
TGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAAC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAG
Celera SNP ID:                hCV27474569
SNP Position Transcript:      2501
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1230|A,250) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 612,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3487):
GCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAA
S
CTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTC
Celera SNP ID:                hCV16076553
SNP Position Transcript:      7976
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2437,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3488):
GATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAA
R
TGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAA
Celera SNP ID:                hCV25472870
SNP Position Transcript:      7678
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,12)  total(G,54|A,22)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2338,(S,AGT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2338,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3489):
GACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGAC
R
GCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAA
Celera SNP ID:                hCV25472861
SNP Position Transcript:      7657
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,34|A,2)  total(G,65|A,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2331,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2331,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3490):
GAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAA
Y
AGCCTGCAAATCTCCACCACCAGAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGCTC
Celera SNP ID:                hCV25626915
SNP Position Transcript:      5602
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,4)  african american(T,36|C,0)  total(T,70|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1646,(I,ATA) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,5)  african american(T,37|C,1)  total(T,72|C,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1646,(I,ATA) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1646,(I,ATA) (T,ACA)



Context              (SEQ ID NO:3491):
GCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCACACTGAGGAATCAATGACTAACGATAAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACC
Y
AGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCAAGACATCCCTGGGGAAAGTGGGCGTGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACA
Celera SNP ID:                hCV15933827
SNP Position Transcript:      4165
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1167,(P,CCA) (L,CTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1167,(P,CCA) (L,CTA)



Context              (SEQ ID NO:3492):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV25473477
SNP Position Transcript:      3975
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,7)  african american(G,35|A,1)  total(G,64|A,8)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1104,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,37|A,1)  total(G,67|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1104,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,37|A,1)  total(G,68|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1104,(V,GTG) (M,ATG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1104,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3493):
GTAAATGGGTCTGTTATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGA
R
TGGAAGGAAGTCAACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAAAGCT
Celera SNP ID:                hCV25474629
SNP Position Transcript:      687
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,16)  african american(G,20|A,14)  total(G,44|A,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 8,(V,GTG) (M,ATG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1988|A,1012) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 8,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3494):
ATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGC
Y
CAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCG
Celera SNP ID:                hCV25626965
SNP Position Transcript:      7319
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2218,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3495):
GAGAGACAGCAGGAGATGGAAAGAGCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCC
R
AGAACACCTAAGGAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACA
Celera SNP ID:                hCV25626917
SNP Position Transcript:      5489
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,36)  african american(G,2|A,30)  total(G,2|A,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1608,(P,CCA) (P,CCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,3|A,35)  total(G,3|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 1608,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3496):
AAGGCCCAACCCCTAGAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAG
M
CTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCA
Celera SNP ID:                hCV25626984
SNP Position Transcript:      3778
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,35|A,3)  total(C,73|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1038,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3497):
GACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAACC
R
TCAGTAGGTGAAGAGAAAGACATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCACAAA
Celera SNP ID:                hCV25626993
SNP Position Transcript:      3203
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 846,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3498):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV25472700
SNP Position Transcript:      6310
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|A,1)  african american(C,22|A,4)  total(C,61|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1882,(T,ACT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1882,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3499):
GGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTC
W
TTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAA
Celera SNP ID:                hCV8903192
SNP Position Transcript:      8625
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,92) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2654,(F,TTT) (I,ATT)



Context              (SEQ ID NO:3500):
CATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGA
Y
CTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTG
Celera SNP ID:                hCV16076543
SNP Position Transcript:      8051
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2462,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3501):
ACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCA
Y
CTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCAC
Celera SNP ID:                hCV25626964
SNP Position Transcript:      7305
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 2214,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3502):
GGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTG
Y
AAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATTGTTGAGTGCATCCTA
Celera SNP ID:                hCV25626946
SNP Position Transcript:      1915
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,35)  african american(T,1|C,37)  total(T,4|C,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 417,(A,GCA) (V,GTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,37)  total(T,4|C,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 417,(A,GCA) (V,GTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 417,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3503):
GCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGC
Y
TGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCC
Celera SNP ID:                hCV25626906
SNP Position Transcript:      8898
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,31)  african american(T,1|C,35)  total(T,4|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:433, 2745,(L,CTG) (L,TTG)



Context              (SEQ ID NO:3504):
GAAACAAACGCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGAACTCCAGTGCAGAAA
S
TGGACCAGCCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTT
Celera SNP ID:                hCV25626936
SNP Position Transcript:      4716
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,3|C,35)  total(G,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 1351,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3505):
GACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACA
R
AGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAACACCATCAGCAGGGAAAGCCATGCTTACGCC
Celera SNP ID:                hCV25626937
SNP Position Transcript:      2730
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,1|A,35)  total(G,3|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 689,(K,AAG) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,1|A,35)  total(G,4|A,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 689,(K,AAG) (E,GAG)



Context              (SEQ ID NO:3506):
GAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCG
R
CCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTG
Celera SNP ID:                hCV31968253
SNP Position Transcript:      134
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3507):
AGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGA
H
TCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCA
Celera SNP ID:                hCV25626992
SNP Position Transcript:      3056
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|C,5)  african american(A,2|C,10)  total(A,4|C,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:433, 797,(D,GAC) (E,GAA)



Context              (SEQ ID NO:3508):
TTGTGATAAGTTCTAGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTGGATTTGCTGG
S
TCTGAATCGGCTTCATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCTGGGCCAAGGTT
Celera SNP ID:                hCV11276365
SNP Position Transcript:      9211
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,7|C,2) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3509):
GGTTTGCCCTCAGCTTTGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTC
R
TTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAG
Celera SNP ID:                hCV25626898
SNP Position Transcript:      9408
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,31|A,3)  total(G,69|A,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3510):
TGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTCGTTTGTTTGCCTATGT
Y
CTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAGCGCACGGATGAATGGA
Celera SNP ID:                hCV27103492
SNP Position Transcript:      9424
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3511):
TCGTTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGAT
R
AGCGCACGGATGAATGGAGCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCT
Celera SNP ID:                hCV15933839
SNP Position Transcript:      9506
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3512):
TGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCTATTTTTGATGTCCTTTCCTTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACT
Y
GTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTAAGGAGTGACTCGTGGCTTGCCTTGGTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCA
Celera SNP ID:                hCV25626897
SNP Position Transcript:      9662
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,3|C,33)  total(T,3|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3513):
CAGCCCGATGCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCTTCAGCCACGATTTCA
R
GATCGCTTCCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAACTCGTTCATCTTCATTT
Celera SNP ID:                hCV29345911
SNP Position Transcript:      10016
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3514):
CAGACTTGTAGATATAACTCGTTCATCTTCATTTACTTTCCACTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAG
R
TCACCTGTCTGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGG
Celera SNP ID:                hCV15812479
SNP Position Transcript:      10183
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3515):
TGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCC
Y
GTCTCCACGTTTGTTTCCCCAGTGTCTGGCGGGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATA
Celera SNP ID:                hCV1801170
SNP Position Transcript:      10293
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,92) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3516):
GAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACC
M
ACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTT
Celera SNP ID:                hCV31968266
SNP Position Transcript:      11042
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3517):
CTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCT
S
TGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTC
Celera SNP ID:                hCV15869188
SNP Position Transcript:      11073
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1266|G,222) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3518):
GTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTG
S
GATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCC
Celera SNP ID:                hCV1801171
SNP Position Transcript:      11164
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,376|G,458) ; no_pop(C,7|G,6) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3519):
TTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCC
W
CCTGCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGG
Celera SNP ID:                hCV8903195
SNP Position Transcript:      11293
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3520):
TTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCC
W
GCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCA
Celera SNP ID:                hCV8903196
SNP Position Transcript:      11296
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|A,1) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3521):
CCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTG
Y
ATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801172
SNP Position Transcript:      11527
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,54|C,134) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3522):
TAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTGTATTTCCTGGTTACT
S
TATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801173
SNP Position Transcript:      11542
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,36|C,56) ; no_pop(G,4|C,1) ; no_pop(G,-|C,-) ; no_pop(G,33|C,
87)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:433, None



Context              (SEQ ID NO:3523):
AACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGTTATTGATGAGCC
W
GTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAATTTCCAA
Celera SNP ID:                hCV27103475
SNP Position Transcript:      613
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:433, None



Gene Number:                  70
Celera Gene:                  hCG39602 - 145000147474422
Celera Transcript:            hCT30854 - 145000147474442
Public Transcript Accession:
Celera Protein:               hCP50753 - 197000069450828
Public Protein Accession:
Gene Symbol:                  MKI67
Protein Name:                  antigen identified by monoclonal antibody Ki-67
Celera Genomic Axis:          GA_x54KRFTF114(4254619..4296355)
Chromosome:                   10
OMIM NUMBER:                  176741
OMIM Information:


Transcript Sequence  (SEQ ID NO:173):
GGGCGGGAGGACTCGACTCGGTGGGAGCCGCTAGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCA
GCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCG
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
AATTTGCTTCTGGCCTTCCCCTACGGATTATACCTGGCCTTCCCCTACGGATTATACTCAACTTACTGTTTAGAAAATGTGGCCCACGAGACGCCTGGTT
ACTATCAAAAGGAGCGGGGTCGACGGTCCCCACTTTCCCCTGAGCCTCAGCACCTGCTTGTTTGGAAGGGGTATTGAATGTGACATCCGTATCCAGCTTC
CTGTTGTGTCAAAACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGT
TATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCA
ACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAGTGACGGAATACCTTTGA
AAAGAAGGCGTGTGTCCTTTGGTGGGCACCTAAGACCTGAACTATTTGATGAAAACTTGCCTCCTAATACGCCTCTCAAAAGGGGAGAAGCCCCAACCAA
AAGAAAGTCTCTGGTAATGCACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAATCCAT
GTGGAAGTGAAGGCACAAAGCTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAAACAG
CCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCTATCAGCCGAAGTCA
ACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGTAGTAAAACTTGGT
GCAAAACAAACACAAACTAAAGTCATAAAACATGGTCCTCAAAGGTCAATGAACAAAAGGCAAAGAAGACCTGCTACTCCAAAGAAGCCTGTGGGCGAAG
TTCACAGTCAATTTAGTACAGGCCACGCAAACTCTCCTTGTACCATAATAATAGGGAAAGCTCATACTGAAAAAGTACATGTGCCTGCTCGACCCTACAG
AGTGCTCAACAACTTCATTTCCAACCAAAAAATGGACTTTAAGGAAGATCTTTCAGGAATAGCTGAAATGTTCAAGACCCCAGTGAAGGAGCAACCGCAG
TTGACAAGCACATGTCACATCGCTATTTCAAATTCAGAGAATTTGCTTGGAAAACAGTTTCAAGGAACTGATTCAGGAGAAGAACCTCTGCTCCCCACCT
CAGAGAGTTTTGGAGGAAATGTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGTGTAT
TAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACA
GTATCCACTGCAAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATTGTTG
AGTGCATCCTAAAAAGAGGTCAGAAGGCAACACTACTACAACAAAGGAGAGAAGGAGAGATGAAGGAAATAGAAAGACCTTTTGAGACATATAAGGAAAA
TATTGAATTAAAAGAAAACGATGAAAAGATGAAAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCTCAAG
AGCTTGCCTGATACAGAACTCATGAAAGACACGGCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGCAAAA
TCACTAAAATGCCCTGCCAGTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAA
AGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTT
AAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAGACC
TGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGA
ATCAGTGGACACTCCAACAAGCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAACACCA
TCAGCAGGGAAAGCCATGCTTACGCCCAAACCAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGGCAG
GAACTTTACCTGGCAGCAAAAGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGG
TCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGA
CCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAACCAT
CAGTAGGTGAAGAGAAAGACATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCACAAAC
TCCTAAGGAAGAGGCCCAGGCTCTGGAAGACCTGACTGGCTTTAAAGAGCTCTTCCAGACCCCTGGTCATACTGAAGAAGCAGTGGCTGCTGGCAAAACT
ACTAAAATGCCCTGCGAATCTTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGA
AGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAG
GGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCTGGCT
GGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGG
ACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGG
CAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTA
ACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCACACTG
AGGAATCAATGACTAACGATAAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACCCAGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCAAGAC
ATCCCTGGGGAAAGTGGGCGTGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACATCAGGAGAGACTACACACACACACACAGAGCCAACAGGA
GATGGTAAGAGCATGAAAGCATTTATGGAGTCTCCAAAGCAGATCTTAGACTCAGCAGCAAGTCTAACTGGCAGCAAGAGGCAGCTGAGAACTCCTAAGG
GAAAGTCTGAAGTCCCTGAAGACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAACGAAAAAACTACCAAAGT
ATCCTACAGAGCTTCACAGCCAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAGACACTGAAGAAGAATTT
TTAGCATTTAGGAAACAAACGCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGAACTC
CAGTGCAGAAACTGGACCAGCCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTT
CAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGAC
ACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCA
AAGCCATGCACACGCCTAAAGCAGCAGTAGGTGAAGAGAAAGACATCAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATTTACC
TGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGAG
GAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAGATAT
CCTTGGGGAAAGTAGGTGTGAAAGAAGAGGTCCTACCAGTCGGCAAGCTCACACAGACGTCAGGGAAGACCACACAGACACACAGAGAGACAGCAGGAGA
TGGAAAGAGCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAAGGAA
GAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAATAG
CCTGCAAATCTCCACCACCAGAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGCTCTC
AGCCCTGAAGCAGCTCACACAGACCACACACACAGACAAAGTACCAGGAGATGAGGATAAAGGCATCAACGTGTTCAGGGAAACTGCAAAACAGAAACTG
GACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCAGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTCTTCC
AGACACCAATATGCACTGACAAGCCCACGACTCATGAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAATCTT
CAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGCAGACGTAGAGGAAGAATCCTTAGCACTCAGGAAACGAACACCATCAGTAGGGAAAGCTATGGACACA
CCCAAACCAGCAGGAGGTGATGAGAAAGACATGAAAGCATTTATGGGAACTCCAGTGCAGAAATTGGACCTGCCAGGAAATTTACCTGGCAGCAAAAGAT
GGCCACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGA
GAAAACTACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGAC
GTAGAGGAAGAATTTTTAGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGGACACACCAAAACCAGCAGTAAGTGATGAGAAAAATATCAACA
CATTTGTGGAAACTCCAGTGCAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACAGCCACAGACTCCTAAGGAAAAGGCTGAGGCTCTAGA
GGACCTGGTTGGCTTCAAAGAACTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACTGATGACAAAATCACAGAAGTATCCTGTAAATCTCCACAG
CCAGAGTCATTCAAAACCTCAAGAAGCTCCAAGCAAAGGCTCAAGATACCCCTGGTGAAAGTGGACATGAAAGAAGAGCCCCTAGCAGTCAGCAAGCTCA
CACGGACATCAGGGGAGACTACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGCGTTTAAGGAGTCTCCAAAGCAGATCCTGGACCC
AGCAGCAAGTGTAACTGGTAGCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAGACCTGGTTGACTTCAAAGAGCTCTTCTCAGCA
CCAGGTCACACTGAAGAGTCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGA
GATGCCCCAAGACACGTCCCAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGA
ACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCA
CCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCA
CTAAAATACCCTGCGAATCTCCCCCACTAGAAGTGGTAGACACCACAGCAAGCACAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAAAAGA
AGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAAGGAA
TCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTAGCTG
GCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGC
AACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACC
ACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCA
GGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGC
AAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATCCAGAAGAGTTCTTCGGGCCCCTAAAGTA
GAACCCGTGGGAGACGTGGTAAGCACCAGAGACCCTGTAAAATCACAAAGCAAAAGCAACACTTCCCTGCCCCCACTGCCCTTCAAGAGGGGAGGTGGCA
AAGATGGAAGCGTCACGGGAACCAAGAGGCTGCGCTGCATGCCAGCACCAGAGGAAATTGTGGAGGAGCTGCCAGCCAGCAAGAAGCAGAGGGTTGCTCC
CAGGGCAAGAGGCAAATCATCCGAACCCGTGGTCATCATGAAGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAGCAAC
GACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAG
AACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAA
TCCAGATGATGGAGCCCGGAAACCCATACCTAGAGACAAAGTCAGTGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCCTAAG
GTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTGAGAT
CAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAA
GGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAG
TTAGTTTTGTGATAAGTTCTAGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTGGATT
TGCTGGGTCTGAATCGGCTTCATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCTGGGC
CAAGGTTTGCCCTCAGCTTTGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTC
GTCGTTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGA
TGAGCGCACGGATGAATGGAGCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTC
CTATTTTTGATGTCCTTTCCTTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACTCGTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTAAGGA
GTGACTCGTGGCTTGCCTTGGTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCACCTGAGACATTCTCCACCCGCGGAATCTCAGGGTCCCAGGCT
GTGGGCCATCACGACCTCAAACTGGCTCCTAATCTCCAGCTTTCCTGTCATTGAAAGCTTCGGAAGTTTACTGGCTCTGCTCCCGCCTGTTTTCTTTCTG
ACTCTATCTGGCAGCCCGATGCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCTTCAG
CCACGATTTCAGGATCGCTTCCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAACTCGT
TCATCTTCATTTACTTTCCACTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAGGTCACCTGTCTGGATTCCTCCC
CATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCCTGTCTCCACGTT
TGTTTCCCCAGTGTCTGGCGGGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATATTGGCTGCCAT
GATAGGGTTCTCACAGCGTCATCCATGATCGTAAGGGAGAATGACATTCTGCTTGAGGGAGGGAATAGAAAGGGGCAGGGAGGGGACATCTGAGGGCTTC
ACAGGGCTGCAAAGGGTACAGGGATTGCACCAGGGCAGAACAGGGGAGGGTGTTCAAGGAAGAGTGGCTCTTAGCAGAGGCACTTTGGAAGGTGTGAGGC
ATAAATGCTTCCTTCTACGTAGGCCAACCTCAAAACTTTCAGTAGGAATGTTGCTATGATCAAGTTGTTCTAACACTTTAGACTTAGTAGTAATTATGAA
CCTCACATAGAAAAATTTCATCCAGCCATATGCCTGTGGAGTGGAATATTCTGTTTAGTAGAAAAATCCTTTAGAGTTCAGCTCTAACCAGAAATCTTGC
TGAAGTATGTCAGCACCTTTTCTCACCCTGGTAAGTACAGTATTTCAAGAGCACGCTAAGGGTGGTTTTCATTTTACAGGGCTGTTGATGATGGGTTAAA
AATGTTCATTTAAGGGCTACCCCCGTGTTTAATAGATGAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATACTGCC
CATTCCCCTAGGCTGACTGGATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGT
AATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACACTAA
CTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCCTGCCCCACC
AAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCAGGTTCTTA
GTTTGCCTGGAATTGTTCTGTACCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTT
GTTCATTCATGAGGGCCGACTGTATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA


Protein Sequence     (SEQ ID NO:434):
MWPTRRLVTIKRSGVDGPHFPLSLSTCLFGRGIECDIRIQLPVVSKQHCKIEIHEQEAILHNFSSTNPTQVNGSVIDEPVRLKHGDVITIIDRSFRYENE
SLQSGRKSTEFPRKIREQEPARRVSRSSFSSDPDESDGIPLKRRRVSFGGHLRPELFDENLPPNTPLKRGEAPTKRKSLVMHTPPVLKKIIKEQPQPSGK
QESGSEIHVEVKAQSLVISPPAPSPRKTPVASDQRRRSCKTAPASSSKSQTEVPKRGGRKSGNLPSKRVSISRSQHDILQMICSKRRSGASEANLIVAKS
WADVVKLGAKQTQTKVIKHGPQRSMNKRQRRPATPKKPVGEVHSQFSTGHANSPCTIIIGKAHTEKVHVPARPYRVLNNFISNQKMDFKEDLSGIAEMFK
TPVKEQPQLTSTCHIAISNSENLLGKQFQGTDSGEEPLLPTSESFGGNVFFSAQNAAKQPSDKCSASPPLRRQCIRENGNVAKTPRNTYKMTSLETKTSD
TETEPSKTVSTANRSGRSTEFRNIQKLPVESKSEETNTEIVECILKRGQKATLLQQRREGEMKEIERPFETYKENIELKENDEKMKAMKRSRTWGQKCAP
MSDLTDLKSLPDTELMKDTARGQNLLQTQDHAKAPKSEKGKITKMPCQSLQPEPINTPTHTKQQLKASLGKVGVKEELLAVGKFTRTSGETTHTHREPAG
DGKSIRTFKESPKQILDPAARVTGMKKWPRTPKEEAQSLEDLAGFKELFQTPGPSEESMTDEKTTKIACKSPPPESVDTPTSTKQWPKRSLRKADVEEEF
LALRKLTPSAGKAMLTPKPAGGDEKDIKAFMGTPVQKLDLAGTLPGSKRQLQTPKEKAQALEDLAGFKELFQTPGHTEELVAAGKTTKIPCDSPQSDPVD
TPTSTKQRPKRSIRKADVEGELLACRNLMPSAGKAMHTPKPSVGEEKDIIIFVGTPVQKLDLTENLTGSKRRPQTPKEEAQALEDLTGFKELFQTPGHTE
EAVAAGKTTKMPCESSPPESADTPTSTRRQPKTPLEKRDVQKELSALKKLTQTSGETTHTDKVPGGEDKSINAFRETAKQKLDPAASVTGSKRHPKTKEK
AQPLEDLAGLKELFQTPVCTDKPTTHEKTTKIACRSQPDPVDTPTSSKPQSKRSLRKVDVEEEFFALRKRTPSAGKAMHTPKPAVSGEKNIYAFMGTPVQ
KLDLTENLTGSKRRLQTPKEKAQALEDLAGFKELFQTRGHTEESMTNDKTAKVACKSSQPDPDKNPASSKRRLKTSLGKVGVKEELLAVGKLTQTSGETT
HTHTEPTGDGKSMKAFMESPKQILDSAASLTGSKRQLRTPKGKSEVPEDLAGFIELFQTPSHTKESMTNEKTTKVSYRASQPDLVDTPTSSKPQPKRSLR
KADTEEEFLAFRKQTPSAGKAMHTPKPAVGEEKDINTFLGTPVQKLDQPGNLPGSNRRLQTRKEKAQALEELTGFRELFQTPCTDNPTTDEKTTKKILCK
SPQSDPADTPTNTKQRPKRSLKKADVEEEFLAFRKLTPSAGKAMHTPKAAVGEEKDINTFVGTPVEKLDLLGNLPGSKRRPQTPKEKAKALEDLAGFKEL
FQTPGHTEESMTDDKITEVSCKSPQPDPVKTPTSSKQRLKISLGKVGVKEEVLPVGKLTQTSGKTTQTHRETAGDGKSIKAFKESAKQMLDPANYGTGME
RWPRTPKEEAQSLEDLAGFKELFQTPDHTEESTTDDKTTKIACKSPPPESMDTPTSTRRRPKTPLGKRDIVEELSALKQLTQTTHTDKVPGDEDKGINVF
RETAKQKLDPAASVTGSKRQPRTPKGKAQPLEDLAGLKELFQTPICTDKPTTHEKTTKIACRSPQPDPVGTPTIFKPQSKRSLRKADVEEESLALRKRTP
SVGKAMDTPKPAGGDEKDMKAFMGTPVQKLDLPGNLPGSKRWPQTPKEKAQALEDLAGFKELFQTPGTDKPTTDEKTTKIACKSPQPDPVDTPASTKQRP
KRSLRKADVEEEFLALRKRTPSAGKAMDTPKPAVSDEKNINTFVETPVQKLDLLGNLPGSKRQPQTPKEKAEALEDLVGFKELFQTPGHTEESMTDDKIT
EVSCKSPQPESFKTSRSSKQRLKIPLVKVDMKEEPLAVSKLTRTSGETTQTHTEPTGDSKSIKAFKESPKQILDPAASVTGSRRQLRTRKEKARALEDLV
DFKELFSAPGHTEESMTIDKNTKIPCKSPPPELTDTATSTKRCPKTRPRKEVKEELSAVERLTQTSGQSTHTHKEPASGDEGIKVLKQRAKKKPNPVEEE
PSRRRPRAPKEKAQPLEDLAGFTELSETSGHTQESLTAGKATKIPCESPPLEVVDTTASTKRHLRTRVQKVQVKEEPSAVKFTQTSGETTDADKEPAGED
KGIKALKESAKQTPAPAASVTGSRRRPRAPRESAQAIEDLAGFKDPAAGHTEESMTDDKTTKIPCKSSPELEDTATSSKRRPRTRAQKVEVKEELLAVGK
LTQTSGETTHTDKEPVGEGKGTKAFKQPAKRKLDAEDVIGSRRQPRAPKEKAQPLEDLASFQELSQTPGHTEELANGAADSFTSAPKQTPDSGKPLKISR
RVLRAPKVEPVGDVVSTRDPVKSQSKSNTSLPPLPFKRGGGKDGSVTGTKRLRCMPAPEEIVEELPASKKQRVAPRARGKSSEPVVIMKRSLRTSAKRIE
PAEELNSNDMKTNKEEHKLQDSVPENKGISLRSRRQNKTEAEQQITEVFVLAERIEINRNEKKPMKTSPEMDIQNPDDGARKPIPRDKVSENKRCLRSAR
QNESSQPKVAEESGGQKSAKVLMQNQKGKGEAGNSDSMCLRSRKTKSQPAASTLESESVQRVTRSVKRCAENPKKAEDNVCVKKIRTRSHRDSEDI*



SNP Information


Context              (SEQ ID NO:3524):
AGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAA
R
ATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGA
Celera SNP ID:                hCV15812489
SNP Position Transcript:      8585
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2737,(N,AAT) (D,GAT)



Context              (SEQ ID NO:3525):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV25473769
SNP Position Transcript:      7242
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,33|A,3)  total(G,68|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2289,(R,CGT) (H,CAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2289,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3526):
GCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCAC
R
ACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCA
Celera SNP ID:                hCV25474782
SNP Position Transcript:      4840
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,11)  total(G,59|A,19)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1488,(T,ACG) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1488,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3527):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV1801147
SNP Position Transcript:      2420
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,6)  african american(G,30|A,6)  total(G,58|A,12)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 682,(G,GGC) (S,AGC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,29|A,5)  total(G,59|A,13)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 682,(G,GGC) (S,AGC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,1728|A,384)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 682,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3528):
ATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGACGGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCT
S
TGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTGCAAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCT
Celera SNP ID:                hCV1801146
SNP Position Transcript:      1856
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|C,30)  african american(G,12|C,26)  total(G,22|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 494,(L,CTG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,8|C,30)  african american(G,12|C,26)  total(G,20|C,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 494,(L,CTG) (V,GTG)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,138|G,46) ; no_pop(C,10|G,8) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 494,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3529):
CTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGA
S
GAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAACAAGCTCCAAGCAACGACTCAAGATAT
Celera SNP ID:                hCV25626916
SNP Position Transcript:      5200
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|C,0)  african american(G,33|C,1)  total(G,69|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1608,(E,GAG) (D,GAC)



Context              (SEQ ID NO:3530):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV8903188
SNP Position Transcript:      1187
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 271,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3531):
TGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAAC
R
GCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCA
Celera SNP ID:                hCV25474272
SNP Position Transcript:      4923
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,29|A,9)  total(G,59|A,19)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1516,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1516,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3532):
GTCATTACAACCAGAACCAATAAACACCCCAACACACACAAAACAACAGTTGAAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTC
R
GCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGAT
Celera SNP ID:                hCV15834772
SNP Position Transcript:      2420
SNP Source:                   Applera/HGBASE/HapMap/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 682,(G,GGC) (S,AGC)



Context              (SEQ ID NO:3533):
GACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAG
R
ACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAAT
Celera SNP ID:                hCV25473484
SNP Position Transcript:      8601
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,33)  african american(G,10|A,26)  total(G,11|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2742,(E,GAA) (G,GGA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,35)  african american(G,10|A,26)  total(G,11|A,61)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2742,(E,GAA) (G,GGA)



Context              (SEQ ID NO:3534):
GCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCT
M
AAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTGACAGTGGAAAACCTCTAAAAATATC
Celera SNP ID:                hCV25626966
SNP Position Transcript:      8072
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|A,0)  african american(C,37|A,1)  total(C,77|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2566,(Q,CAA) (K,AAA)



Context              (SEQ ID NO:3535):
CTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACAC
Y
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
Celera SNP ID:                hCV25626963
SNP Position Transcript:      7798
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2474,(T,ACC) (T,ACT)



Context              (SEQ ID NO:3536):
TGAAAGAAGAGCCCCTAGCAGTCAGCAAGCTCACACGGACATCAGGGGAGACTACGCAAACACACACAGAGCCAACAGGAGATAGTAAGAGCATCAAAGC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCAAGTGTAACTGGTAGCAGGAGGCAGCTGAGAACTCGTAAGGAAAAGGCCCGTGCTCTAGAAG
Celera SNP ID:                hCV25626926
SNP Position Transcript:      6868
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,3)  total(G,75|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2164,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3537):
ACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGC
Y
CAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTAACACCATCAGCAGGCAAAGCCATGCACACGCCTAAAGCAGCA
Celera SNP ID:                hCV25474283
SNP Position Transcript:      4926
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1517,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3538):
ACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTA
Y
GCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAG
Celera SNP ID:                hCV25626975
SNP Position Transcript:      3952
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,1|C,31)  total(T,1|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1192,(Y,TAC) (Y,TAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,1|C,33)  total(T,1|C,69)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1192,(Y,TAC) (Y,TAT)



Context              (SEQ ID NO:3539):
GCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACT
Y
AGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGA
Celera SNP ID:                hCV25626983
SNP Position Transcript:      3877
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,30)  total(T,2|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1167,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,2|C,36)  total(T,2|C,76)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1167,(L,CTC) (L,CTT)



Context              (SEQ ID NO:3540):
ACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGA
M
AGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAAC
Celera SNP ID:                hCV27103489
SNP Position Transcript:      3846
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1157,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3541):
AAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCCCTCTGAGGAATCAATGA
S
TGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACAAAGCAATGGCCTAAGAGAAGTCTCAGGAAA
Celera SNP ID:                hCV31968263
SNP Position Transcript:      2655
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 760,(T,ACT) (S,AGT)



Context              (SEQ ID NO:3542):
ACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAA
S
AACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAGTTAGTTTTGTGATAAGTTCTAGTGCAGTTTTTG
Celera SNP ID:                hCV16076591
SNP Position Transcript:      9033
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2886,(R,AGA) (T,ACA)



Context              (SEQ ID NO:3543):
TCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGA
R
GGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAACTGGGAAAAATATAATAAAG
Celera SNP ID:                hCV25626905
SNP Position Transcript:      9000
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2875,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3544):
CGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGACAAAGAACCAGCAGGTGAAG
R
TAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGT
Celera SNP ID:                hCV1801157
SNP Position Transcript:      7575
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,1446|G,486)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2400,(D,GAT) (G,GGT)



Context              (SEQ ID NO:3545):
TGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCGAATCTCCCCCACTAGAAGTGGTAGACACCACAGCAAGC
M
CAAAGAGGCATCTCAGGACACGTGTGCAGAAGGTACAAGTAAAAGAAGAGCCTTCAGCAGTCAAGTTCACACAAACATCAGGGGAAACCACGGATGCAGA
Celera SNP ID:                hCV1801156
SNP Position Transcript:      7454
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,30|A,154) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2360,(T,ACA) (P,CCA)



Context              (SEQ ID NO:3546):
GAGTCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACAC
R
TCCCAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGAT
Celera SNP ID:                hCV25626974
SNP Position Transcript:      7116
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2247,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3547):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV1801149
SNP Position Transcript:      3036
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 887,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3548):
CAACACATTTGTGGGGACTCCAGTGGAGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCT
M
TAGAAGATCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCC
Celera SNP ID:                hCV25626925
SNP Position Transcript:      5147
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|A,0)  african american(C,32|A,2)  total(C,62|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1591,(L,CTA) (I,ATA)



Context              (SEQ ID NO:3549):
ACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACAGACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTG
K
CTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTG
Celera SNP ID:                hCV25626994
SNP Position Transcript:      2973
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,2|G,32)  african american(T,1|G,35)  total(T,3|G,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 866,(G,GGC) (V,GTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|G,37)  african american(T,1|G,37)  total(T,4|G,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 866,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3550):
AAGCAATGAAGAGATCAAGAACTTGGGGGCAGAAATGTGCACCAATGTCTGACCTGACAGACCTCAAGAGCTTGCCTGATACAGAACTCATGAAAGACAC
R
GCACGTGGCCAGAATCTCCTCCAAACCCAAGATCATGCCAAGGCACCAAAGAGTGAGAAAGGCAAAATCACTAAAATGCCCTGCCAGTCATTACAACCAG
Celera SNP ID:                hCV25626945
SNP Position Transcript:      2233
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,33|A,1)  total(G,65|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 619,(T,ACG) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,35|A,3)  total(G,73|A,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 619,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3551):
GTCCTGCAAAACAGCCCCTGCTTCCAGCAGCAAATCTCAGACAGAGGTTCCTAAGAGAGGAGGGAGAAAGAGTGGCAACCTGCCTTCAAAGAGAGTGTCT
M
TCAGCCGAAGTCAACATGATATTTTACAGATGATATGTTCCAAAAGAAGAAGTGGTGCTTCGGAAGCAAATCTGATTGTTGCAAAATCATGGGCAGATGT
Celera SNP ID:                hCV27103479
SNP Position Transcript:      1187
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,445|C,15) ; no_pop(A,6|C,2) ; no_pop(A,1221|C,3138) ; no_pop(
A,112|C,8)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 271,(I,ATC) (L,CTC)



Context              (SEQ ID NO:3552):
ATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAAACCCATACCTAGAGACAAAGTCA
S
TGAGAACAAAAGGTGCTTGAGGTCTGCTAGACAGAATGAGAGCTCCCAGCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATG
Celera SNP ID:                hCV8903193
SNP Position Transcript:      8745
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,18)  african american(G,17|C,21)  total(G,35|C,39)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2790,(S,AGT) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,18|C,20)  african american(G,18|C,20)  total(G,36|C,40)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2790,(S,AGT) (T,ACT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,344|G,344) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2790,(S,AGT) (T,ACT)



Context              (SEQ ID NO:3553):
AGAGAAGTTTGAGGACTTCTGCAAAAAGAATTGAACCTGCGGAAGAGCTGAACAGCAACGACATGAAAACCAACAAAGAGGAACACAAATTACAAGACTC
R
GTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTCTTTGTATTAGCAGAAAGAATAG
Celera SNP ID:                hCV1801164
SNP Position Transcript:      8542
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,8)  african american(G,35|A,3)  total(G,63|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2722,(S,TCG) (S,TCA)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2722,(S,TCG) (S,TCA)



Context              (SEQ ID NO:3554):
AAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGC
Y
CAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCAT
Celera SNP ID:                hCV25472876
SNP Position Transcript:      7678
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,10|C,28)  african american(T,11|C,21)  total(T,21|C,49)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2434,(A,GCC) (A,GCT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2434,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3555):
TCAATGACTATTGACAAAAACACAAAAATTCCCTGCAAATCTCCCCCACCAGAACTAACAGACACTGCCACGAGCACAAAGAGATGCCCCAAGACACGTC
Y
CAGGAAAGAAGTAAAAGAGGAGCTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAG
Celera SNP ID:                hCV1801154
SNP Position Transcript:      7119
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,19|C,13)  african american(T,19|C,15)  total(T,38|C,28)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2248,(P,CCC) (L,CTC)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|T,114) ; no_pop(C,442|T,530) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2248,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3556):
AGCTGAGAACTCCTAAGGGAAAGTCTGAAGTCCCTGAAGACCTGGCCGGCTTCATCGAGCTCTTCCAGACACCAAGTCACACTAAGGAATCAATGACTAA
Y
GAAAAAACTACCAAAGTATCCTACAGAGCTTCACAGCCAGACCTAGTGGACACCCCAACAAGCTCCAAGCCACAGCCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV12049035
SNP Position Transcript:      4483
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|C,29)  african american(T,3|C,35)  total(T,10|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1369,(N,AAC) (N,AAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,30)  african american(T,3|C,35)  total(T,11|C,65)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1369,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,146|T,38) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1369,(N,AAC) (N,AAT)



Context              (SEQ ID NO:3557):
AAAATGCCCTGCGAATCTTCTCCACCAGAATCAGCAGACACCCCAACAAGCACAAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGG
W
GCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAA
Celera SNP ID:                hCV25472740
SNP Position Transcript:      3504
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,31)  african american(T,2|A,36)  total(T,9|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1043,(E,GAG) (V,GTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,7|A,33)  african american(T,2|A,36)  total(T,9|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1043,(E,GAG) (V,GTG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,2454|T,534) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1043,(E,GAG) (V,GTG)



Context              (SEQ ID NO:3558):
GCAACAAGCTCAAAGAGACGGCCCAGGACACGTGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGA
S
CACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGC
Celera SNP ID:                hCV15869189
SNP Position Transcript:      7899
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,506|C,2410) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2508,(T,ACC) (S,AGC)



Context              (SEQ ID NO:3559):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV1801163
SNP Position Transcript:      8007
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2544,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3560):
ATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAAGTGCCCAAG
Y
CATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCA
Celera SNP ID:                hCV25626955
SNP Position Transcript:      7683
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,1|C,33)  total(T,1|C,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2436,(A,GCC) (V,GTC)



Context              (SEQ ID NO:3561):
CCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAG
S
AAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAA
Celera SNP ID:                hCV25626935
SNP Position Transcript:      3844
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1156,(R,AGG) (S,AGC)



Context              (SEQ ID NO:3562):
AAGAAGGCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACA
S
ATAAAGTACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCA
Celera SNP ID:                hCV25627001
SNP Position Transcript:      3557
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1061,(D,GAT) (H,CAT)



Context              (SEQ ID NO:3563):
TCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCACTCAGGA
W
ACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCAGTGCAGAAACTG
Celera SNP ID:                hCV25626982
SNP Position Transcript:      3882
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,34)  african american(T,1|A,31)  total(T,1|A,65)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1169,(K,AAA) (I,ATA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|A,40)  african american(T,1|A,37)  total(T,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1169,(K,AAA) (I,ATA)



Context              (SEQ ID NO:3564):
CAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACG
R
CTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGCAATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAA
Celera SNP ID:                hCV27103486
SNP Position Transcript:      4841
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1489,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3565):
GCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGC
R
AATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCA
Celera SNP ID:                hCV8903194
SNP Position Transcript:      8945
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1440|A,1732) ; no_pop(G,-|A,-) ; no_pop(G,128|A,112)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2857,(E,GAA) (K,AAA)



Context              (SEQ ID NO:3566):
CAGACTCCATGTGCCTGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAG
R
TGTGCAGAAAATCCAAAGAAGGCTGAGGACAATGTGTGTGTCAAGAAAATAAGAACCAGAAGTCATAGGGACAGTGAAGATATTTGACAGAAAAATCGAA
Celera SNP ID:                hCV11276368
SNP Position Transcript:      8980
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,37|A,1)  total(G,67|A,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2868,(R,AGA) (R,AGG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,14|G,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2868,(R,AGA) (R,AGG)



Context              (SEQ ID NO:3567):
TCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCT
R
GAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAAC
Celera SNP ID:                hCV25626927
SNP Position Transcript:      3688
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,12|A,6)  african american(G,6|A,6)  total(G,18|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1104,(L,CTA) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,4)  african american(G,10|A,2)  total(G,34|A,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1104,(L,CTA) (L,CTG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1104,(L,CTA) (L,CTG)



Context              (SEQ ID NO:3568):
CCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCA
Y
TAAAATACCCTGCGACTCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGA
Celera SNP ID:                hCV25473208
SNP Position Transcript:      3036
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,10)  african american(T,0|C,20)  total(T,4|C,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 887,(T,ACT) (I,ATT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,9|C,31)  african american(T,1|C,37)  total(T,10|C,68)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 887,(T,ACT) (I,ATT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 887,(T,ACT) (I,ATT)



Context              (SEQ ID NO:3569):
CAGCAGGAGGTGATGAGAAAGACATTAAAGCATTTATGGGAACTCCAGTGCAGAAACTGGACCTGGCAGGAACTTTACCTGGCAGCAAAAGACAGCTACA
R
ACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAA
Celera SNP ID:                hCV25472511
SNP Position Transcript:      2932
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,23|A,9)  african american(G,24|A,12)  total(G,47|A,21)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 852,(Q,CAG) (Q,CAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,10)  total(G,54|A,20)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 852,(Q,CAG) (Q,CAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 852,(Q,CAG) (Q,CAA)



Context              (SEQ ID NO:3570):
GTGGAAGGAAGTCAACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAGTGA
S
GGAATACCTTTGAAAAGAAGGCGTGTGTCCTTTGGTGGGCACCTAAGACCTGAACTATTTGATGAAAACTTGCCTCCTAATACGCCTCTCAAAAGGGGAG
Celera SNP ID:                hCV1801141
SNP Position Transcript:      787
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|C,8)  african american(G,25|C,9)  total(G,55|C,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 137,(D,GAC) (E,GAG)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,214|G,758)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 137,(D,GAC) (E,GAG)



Context              (SEQ ID NO:3571):
CTCTCAGCAGTTGAGAGGCTCACGCAAACATCAGGGCAAAGCACACACACACACAAAGAACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAAC
R
TGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTC
Celera SNP ID:                hCV1801155
SNP Position Transcript:      7242
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2289,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3572):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV1801161
SNP Position Transcript:      7830
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2485,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3573):
GCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCCAAGAACACCTAAGGAAGAGGCCCA
R
TCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAATAGCCTGCAAAT
Celera SNP ID:                hCV25626907
SNP Position Transcript:      5509
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1711,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:3574):
AGAAACTGGACCTGCTAGGAAATTTACCTGGCAGCAAGAGACGGCCACAAACTCCTAAAGAAAAGGCCAAGGCTCTAGAAGATCTGGCTGGCTTCAAAGA
R
CTCTTCCAGACACCAGGTCACACTGAGGAATCAATGACCGATGACAAAATCACAGAAGTATCCTGCAAATCTCCACAACCAGACCCAGTCAAAACCCCAA
Celera SNP ID:                hCV25626918
SNP Position Transcript:      5173
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,0)  african american(G,33|A,1)  total(G,63|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1599,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3575):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV1801153
SNP Position Transcript:      6306
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1977,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3576):
ATGCACACTCCACCTGTCCTGAAGAAAATCATCAAGGAACAGCCTCAACCATCAGGAAAACAAGAGTCAGGTTCAGAAATCCATGTGGAAGTGAAGGCAC
M
AAGCTTGGTTATAAGCCCTCCAGCTCCTAGTCCTAGGAAAACTCCAGTTGCCAGTGATCAACGCCGTAGGTCCTGCAAAACAGCCCCTGCTTCCAGCAGC
Celera SNP ID:                hCV27950553
SNP Position Transcript:      1017
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 214,(Q,CAA) (P,CCA)



Context              (SEQ ID NO:3577):
AGAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGC
K
ACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGT
Celera SNP ID:                hCV27103473
SNP Position Transcript:      133
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3578):
AGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCGACCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGC
K
CGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTGCGACTTGACGAGCGGTGGTTCGACAAGTGGCCTTGCGGGCCGGATCGTCCCAGTGGAAGAGTTGTA
Celera SNP ID:                hCV31968254
SNP Position Transcript:      200
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3579):
ACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGAC
R
GCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGT
Celera SNP ID:                hCV25472811
SNP Position Transcript:      8007
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,26)  african american(G,11|A,23)  total(G,21|A,49)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2544,(Q,CAG) (R,CGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,10|A,30)  african american(G,12|A,26)  total(G,22|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2544,(Q,CAG) (R,CGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2544,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:3580):
CAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAAG
S
TGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTCA
Celera SNP ID:                hCV15933841
SNP Position Transcript:      7973
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2533,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3581):
GAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAATCATCACCAGAACTAGAAGACACCGCAACAAGCTCAAAGAGACGGCCCAGGACAC
R
TGCCCAGAAAGTAGAAGTGAAGGAGGAGCTGTTAGCAGTTGGCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAG
Celera SNP ID:                hCV25472813
SNP Position Transcript:      7830
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,27|A,7)  total(G,59|A,7)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2485,(R,CGT) (H,CAT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,26|A,8)  total(G,65|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2485,(R,CGT) (H,CAT)

SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2485,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3582):
GAAGAACTGACTGGCTTCAGAGAGCTTTTCCAGACACCATGCACTGATAACCCCACGACTGATGAGAAAACTACCAAAAAAATACTCTGCAAATCTCCGC
W
ATCAGACCCAGCGGACACCCCAACAAACACAAAGCAACGGCCCAAGAGAAGCCTCAAGAAAGCAGACGTAGAGGAAGAATTTTTAGCATTCAGGAAACTA
Celera SNP ID:                hCV25626973
SNP Position Transcript:      4884
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1503,(Q,CAA) (L,CTA)



Context              (SEQ ID NO:3583):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV1801150
SNP Position Transcript:      3971
SNP Source:                   Applera/Celera/dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1199,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3584):
AAGGCATCCCTGGGGAAAGTAGGTGTGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAG
Y
AGGAGATGGCAAGAGCATCAGAACGTTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCT
Celera SNP ID:                hCV25626944
SNP Position Transcript:      2472
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,35)  total(T,1|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 699,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3585):
GCTCCCCACCTCAGAGAGTTTTGGAGGAAATGTGTTCTTCAGTGCACAGAATGCAGCAAAACAGCCATCTGATAAATGCTCTGCAAGCCCTCCCTTAAGA
Y
GGCAGTGTATTAGAGAAAATGGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCC
Celera SNP ID:                hCV25626953
SNP Position Transcript:      1790
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,0|C,38)  total(T,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 472,(R,CGG) (W,TGG)



Context              (SEQ ID NO:3586):
AGCCAAGAACTCCTAAGGGAAAAGCCCAACCCCTAGAAGACTTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAATATGCACTGACAAGCCCACGACTCA
Y
GAGAAAACTACCAAAATAGCCTGCAGATCTCCACAACCAGACCCAGTGGGTACCCCAACAATCTTCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGCAG
Celera SNP ID:                hCV25473986
SNP Position Transcript:      5935
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,31|C,9)  african american(T,30|C,6)  total(T,61|C,15)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1853,(H,CAT) (H,CAC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1853,(H,CAT) (H,CAC)



Context              (SEQ ID NO:3587):
GCAGCCCAAGACACCTTTGGAGAAAAGGGACGTACAGAAGGAGCTCTCAGCCCTGAAGAAGCTCACACAGACATCAGGGGAAACCACACACACAGATAAA
R
TACCAGGAGGTGAGGATAAAAGCATCAACGCGTTTAGGGAAACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAA
Celera SNP ID:                hCV27103487
SNP Position Transcript:      3563
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1063,(V,GTA) (I,ATA)



Context              (SEQ ID NO:3588):
ACTGCAAAACAGAAACTGGACCCAGCAGCAAGTGTAACTGGTAGCAAGAGGCACCCAAAAACTAAGGAAAAGGCCCAACCCCTAGAAGACCTGGCTGGCT
K
GAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAGCCTGCAGATCACAACCAGACCCAGTGGACACA
Celera SNP ID:                hCV27103483
SNP Position Transcript:      3705
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1110,(L,TTG) (W,TGG)



Context              (SEQ ID NO:3589):
TGAAAGAAGAGCTCCTAGCAGTCGGCAAGTTCACACGGACGTCAGGGGAGACCACGCACACGCACAGAGAGCCAGCAGGAGATGGCAAGAGCATCAGAAC
R
TTTAAGGAGTCTCCAAAGCAGATCCTGGACCCAGCAGCCCGTGTAACTGGAATGAAGAAGTGGCCAAGAACGCCTAAGGAAGAGGCCCAGTCACTAGAAG
Celera SNP ID:                hCV27474569
SNP Position Transcript:      2497
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1230|A,250) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 707,(T,ACG) (T,ACA)



Context              (SEQ ID NO:3590):
GCAAGCTCACACAAACCTCAGGGGAGACCACGCACACCGACAAAGAGCCGGTAGGTGAGGGCAAAGGCACGAAAGCATTTAAGCAACCTGCAAAGCGGAA
S
CTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGATCTGGCCAGCTTCCAAGAGCTCTCTC
Celera SNP ID:                hCV16076553
SNP Position Transcript:      7972
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2532,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3591):
GATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGACGGCCAAGAGCACCCAGGGAAA
R
TGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAAACCACTAAAATACCCTGCAAA
Celera SNP ID:                hCV25472870
SNP Position Transcript:      7674
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,10)  african american(G,24|A,12)  total(G,54|A,22)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2433,(S,AGT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2433,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3592):
GACAAAGAACCAGCAGGTGAAGATAAAGGCATCAAAGCATTGAAGGAATCTGCAAAACAGACACCGGCTCCAGCAGCAAGTGTAACTGGCAGCAGGAGAC
R
GCCAAGAGCACCCAGGGAAAGTGCCCAAGCCATAGAAGACCTAGCTGGCTTCAAAGACCCAGCAGCAGGTCACACTGAAGAATCAATGACTGATGACAAA
Celera SNP ID:                hCV25472861
SNP Position Transcript:      7653
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,34|A,2)  total(G,65|A,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2426,(R,CGG) (Q,CAG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2426,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:3593):
GAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACAAAACTACCAAAA
Y
AGCCTGCAAATCTCCACCACCAGAATCAATGGACACTCCAACAAGCACAAGGAGGCGGCCCAAAACACCTTTGGGGAAAAGGGATATAGTGGAAGAGCTC
Celera SNP ID:                hCV25626915
SNP Position Transcript:      5598
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,34|C,4)  african american(T,36|C,0)  total(T,70|C,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1741,(I,ATA) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,35|C,5)  african american(T,37|C,1)  total(T,72|C,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1741,(I,ATA) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1741,(I,ATA) (T,ACA)



Context              (SEQ ID NO:3594):
GCTGGCTTTAAAGAGCTCTTCCAGACACGAGGTCACACTGAGGAATCAATGACTAACGATAAAACTGCCAAAGTAGCCTGCAAATCTTCACAACCAGACC
Y
AGACAAAAACCCAGCAAGCTCCAAGCGACGGCTCAAGACATCCCTGGGGAAAGTGGGCGTGAAAGAAGAGCTCCTAGCAGTTGGCAAGCTCACACAGACA
Celera SNP ID:                hCV15933827
SNP Position Transcript:      4161
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1262,(P,CCA) (L,CTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1262,(P,CCA) (L,CTA)



Context              (SEQ ID NO:3595):
CGCACTCAGGAAACGAACACCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAAGTGGTGAGAAAAACATCTACGCATTTATGGGAACTCCA
R
TGCAGAAACTGGACCTGACAGAGAACTTAACTGGCAGCAAGAGACGGCTACAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTTAA
Celera SNP ID:                hCV25473477
SNP Position Transcript:      3971
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,7)  african american(G,35|A,1)  total(G,64|A,8)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1199,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,30|A,8)  african american(G,37|A,1)  total(G,67|A,9)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1199,(V,GTG) (M,ATG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,9)  african american(G,37|A,1)  total(G,68|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1199,(V,GTG) (M,ATG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1199,(V,GTG) (M,ATG)



Context              (SEQ ID NO:3596):
GTAAATGGGTCTGTTATTGATGAGCCTGTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGA
R
TGGAAGGAAGTCAACTGAATTTCCAAGAAAAATACGTGAACAGGAGCCAGCACGTCGTGTCTCAAGATCTAGCTTCTCTTCTGACCCTGATGAGAGTGAC
Celera SNP ID:                hCV25474629
SNP Position Transcript:      687
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|A,16)  african american(G,20|A,14)  total(G,44|A,30)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 104,(S,AGT) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1988|A,1012) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 104,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3597):
ATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCACCTAAGGAAAAGGC
Y
CAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCACTAAAATACCCTGCG
Celera SNP ID:                hCV25626965
SNP Position Transcript:      7315
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2313,(A,GCC) (A,GCT)



Context              (SEQ ID NO:3598):
GAGAGACAGCAGGAGATGGAAAGAGCATCAAAGCGTTTAAGGAATCTGCAAAGCAGATGCTGGACCCAGCAAACTATGGAACTGGGATGGAGAGGTGGCC
R
AGAACACCTAAGGAAGAGGCCCAATCACTAGAAGACCTGGCCGGCTTCAAAGAGCTCTTCCAGACACCAGACCACACTGAGGAATCAACAACTGATGACA
Celera SNP ID:                hCV25626917
SNP Position Transcript:      5485
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,36)  african american(G,2|A,30)  total(G,2|A,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1703,(P,CCA) (P,CCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,3|A,35)  total(G,3|A,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 1703,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3599):
AAGGCCCAACCCCTAGAAGACCTGGCTGGCTTGAAAGAGCTCTTCCAGACACCAGTATGCACTGACAAGCCCACGACTCACGAGAAAACTACCAAAATAG
M
CTGCAGATCACAACCAGACCCAGTGGACACACCAACAAGCTCCAAGCCACAGTCCAAGAGAAGTCTCAGGAAAGTGGACGTAGAAGAAGAATTCTTCGCA
Celera SNP ID:                hCV25626984
SNP Position Transcript:      3774
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,35|A,3)  total(C,73|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1133,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3600):
GACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCAGGAATCTAATGCCATCAGCAGGCAAAGCCATGCACACGCCTAAACC
R
TCAGTAGGTGAAGAGAAAGACATCATCATATTTGTGGGAACTCCAGTGCAGAAACTGGACCTGACAGAGAACTTAACCGGCAGCAAGAGACGGCCACAAA
Celera SNP ID:                hCV25626993
SNP Position Transcript:      3199
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,40)  african american(G,1|A,37)  total(G,1|A,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 941,(P,CCA) (P,CCG)



Context              (SEQ ID NO:3601):
CAAACTCCTAAGGAAAAGGCCCAGGCTCTAGAAGACCTGGCTGGCTTCAAAGAGCTCTTCCAGACACCAGGCACTGACAAGCCCACGACTGATGAGAAAA
M
TACCAAAATAGCCTGCAAATCTCCACAACCAGACCCAGTGGACACCCCAGCAAGCACAAAGCAACGGCCCAAGAGAAGCCTCAGGAAAGCAGACGTAGAG
Celera SNP ID:                hCV25472700
SNP Position Transcript:      6306
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|A,1)  african american(C,22|A,4)  total(C,61|A,5)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1977,(T,ACT) (N,AAT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1977,(T,ACT) (N,AAT)



Context              (SEQ ID NO:3602):
GGAACACAAATTACAAGACTCGGTCCCTGAAAATAAGGGAATATCCCTGCGCTCCAGACGCCAAAATAAGACTGAGGCAGAACAGCAAATAACTGAGGTC
W
TTGTATTAGCAGAAAGAATAGAAATAAACAGAAATGAAAAGAAGCCCATGAAGACCTCCCCAGAGATGGACATTCAGAATCCAGATGATGGAGCCCGGAA
Celera SNP ID:                hCV8903192
SNP Position Transcript:      8621
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,92) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2749,(F,TTT) (I,ATT)



Context              (SEQ ID NO:3603):
CATTTAAGCAACCTGCAAAGCGGAAGCTGGACGCAGAAGATGTAATTGGCAGCAGGAGACAGCCAAGAGCACCTAAGGAAAAGGCCCAACCCCTGGAAGA
Y
CTGGCCAGCTTCCAAGAGCTCTCTCAAACACCAGGCCACACTGAGGAACTGGCAAATGGTGCTGCTGATAGCTTTACAAGCGCTCCAAAGCAAACACCTG
Celera SNP ID:                hCV16076543
SNP Position Transcript:      8047
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2557,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3604):
ACCAGCAAGCGGTGATGAGGGCATCAAAGTATTGAAGCAACGTGCAAAGAAGAAACCAAACCCAGTAGAAGAGGAACCCAGCAGGAGAAGGCCAAGAGCA
Y
CTAAGGAAAAGGCCCAACCCCTGGAAGACCTGGCCGGCTTCACAGAGCTCTCTGAAACATCAGGTCACACTCAGGAATCACTGACTGCTGGCAAAGCCAC
Celera SNP ID:                hCV25626964
SNP Position Transcript:      7301
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 2309,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3605):
GGAAACGTAGCAAAAACGCCCAGGAACACCTACAAAATGACTTCTCTGGAGACAAAAACTTCAGATACTGAGACAGAGCCTTCAAAAACAGTATCCACTG
Y
AAACAGGTCAGGAAGGTCTACAGAGTTCAGGAATATACAGAAGCTACCTGTGGAAAGTAAGAGTGAAGAAACAAATACAGAAATTGTTGAGTGCATCCTA
Celera SNP ID:                hCV25626946
SNP Position Transcript:      1911
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,35)  african american(T,1|C,37)  total(T,4|C,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 512,(A,GCA) (V,GTA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,37)  african american(T,1|C,37)  total(T,4|C,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 512,(A,GCA) (V,GTA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 512,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3606):
GCCTAAGGTGGCAGAGGAGAGCGGAGGGCAGAAGAGTGCGAAGGTTCTCATGCAGAATCAGAAAGGGAAAGGAGAAGCAGGAAATTCAGACTCCATGTGC
Y
TGAGATCAAGAAAGACAAAAAGCCAGCCTGCAGCAAGCACTTTGGAGAGCGAATCTGTGCAGAGAGTAACGCGGAGTGTCAAGAGATGTGCAGAAAATCC
Celera SNP ID:                hCV25626906
SNP Position Transcript:      8894
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,31)  african american(T,1|C,35)  total(T,4|C,66)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 2840,(L,CTG) (L,TTG)



Context              (SEQ ID NO:3607):
GAAACAAACGCCATCAGCAGGCAAAGCCATGCACACACCCAAACCAGCAGTAGGTGAAGAGAAAGACATCAACACGTTTTTGGGAACTCCAGTGCAGAAA
S
TGGACCAGCCAGGAAATTTACCTGGCAGCAATAGACGGCTACAAACTCGTAAGGAAAAGGCCCAGGCTCTAGAAGAACTGACTGGCTTCAGAGAGCTTTT
Celera SNP ID:                hCV25626936
SNP Position Transcript:      4712
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,3|C,35)  total(G,3|C,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 1446,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3608):
GACACCAGGTCCCTCTGAGGAATCAATGACTGATGAGAAAACTACCAAAATAGCCTGCAAATCTCCACCACCAGAATCAGTGGACACTCCAACAAGCACA
R
AGCAATGGCCTAAGAGAAGTCTCAGGAAAGCAGATGTAGAGGAAGAATTCTTAGCACTCAGGAAACTAACACCATCAGCAGGGAAAGCCATGCTTACGCC
Celera SNP ID:                hCV25626937
SNP Position Transcript:      2726
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,1|A,35)  total(G,3|A,69)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 784,(K,AAG) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,3|A,37)  african american(G,1|A,35)  total(G,4|A,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 784,(K,AAG) (E,GAG)



Context              (SEQ ID NO:3609):
GAGCCGGGCGCCCGGGGACGTAGCCTGTAGGGCCACCGGGTCCCCGTCAGAGGCGGCGGCGGGAGCAGCGGGGACTGCAGGCCGGGGTGCAGCGAACGCG
R
CCCCGCGGGCTGCGGCCCGGTGTGTGCGGAGCGTGGCGGGCGCAGCTTACCGGGCGGAGGTGAGCGCGGCGCCGGCTCCTCCTGCGGCGGACTTTGGGTG
Celera SNP ID:                hCV31968253
SNP Position Transcript:      134
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3610):
AGGCTCTAGAAGACCTGGCTGGCTTTAAAGAGCTCTTCCAGACTCCTGGTCACACCGAGGAATTAGTGGCTGCTGGTAAAACCACTAAAATACCCTGCGA
H
TCTCCACAGTCAGACCCAGTGGACACCCCAACAAGCACAAAGCAACGACCCAAGAGAAGTATCAGGAAAGCAGATGTAGAGGGAGAACTCTTAGCGTGCA
Celera SNP ID:                hCV25626992
SNP Position Transcript:      3052
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|C,5)  african american(A,2|C,10)  total(A,4|C,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:434, 892,(D,GAC) (E,GAA)



Context              (SEQ ID NO:3611):
AACAACATTGCAAAATTGAAATCCATGAGCAGGAGGCAATATTACATAATTTCAGTTCCACAAATCCAACACAAGTAAATGGGTCTGTTATTGATGAGCC
W
GTACGGCTAAAACATGGAGATGTAATAACTATTATTGATCGTTCCTTCAGGTATGAAAATGAAAGTCTTCAGAGTGGAAGGAAGTCAACTGAATTTCCAA
Celera SNP ID:                hCV27103475
SNP Position Transcript:      613
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:434, 79,(P,CCA) (P,CCT)



Context              (SEQ ID NO:3612):
TTGTGATAAGTTCTAGTGCAGTTTTTGTCATAAATTACAAGTGAATTCTGTAAGTAAGGCTGTCAGTCTGCTTAAGGGAAGAAAACTTTGGATTTGCTGG
S
TCTGAATCGGCTTCATAAACTCCACTGGGAGCACTGCTGGGCTCCTGGACTGAGAATAGTTGAACACCGGGGGCTTTGTGAAGGAGTCTGGGCCAAGGTT
Celera SNP ID:                hCV11276365
SNP Position Transcript:      9207
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,7|C,2) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3613):
GGTTTGCCCTCAGCTTTGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTC
R
TTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAG
Celera SNP ID:                hCV25626898
SNP Position Transcript:      9404
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|A,0)  african american(G,31|A,3)  total(G,69|A,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3614):
TGCAGAATGAAGCCTTGAGGTCTGTCACCACCCACAGCCACCCTACAGCAGCCTTAACTGTGACACTTGCCACACTGTGTCGTCGTTTGTTTGCCTATGT
Y
CTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGATGAGCGCACGGATGAATGGA
Celera SNP ID:                hCV27103492
SNP Position Transcript:      9420
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3615):
TCGTTTGTTTGCCTATGTCCTCCAGGGCACGGTGGCAGGAACAACTATCCTCGTCTGTCCCAACACTGAGCAGGCACTCGGTAAACACGAATGAATGGAT
R
AGCGCACGGATGAATGGAGCTTACAAGATCTGTCTTTCCAATGGCCGGGGGCATTTGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCT
Celera SNP ID:                hCV15933839
SNP Position Transcript:      9502
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3616):
TGGTCCCCAAATTAAGGCTATTGGACATCTGCACAGGACAGTCCTATTTTTGATGTCCTTTCCTTTCTGAAAATAAAGTTTTGTGCTTTGGAGAATGACT
Y
GTGAGCACATCTTTAGGGACCAAGAGTGACTTTCTGTAAGGAGTGACTCGTGGCTTGCCTTGGTCTCTTGGGAATACTTTTCTAACTAGGGTTGCTCTCA
Celera SNP ID:                hCV25626897
SNP Position Transcript:      9658
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,3|C,33)  total(T,3|C,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3617):
CAGCCCGATGCCACCCAGTACAGGAAGTGACACCAGTACTCTGTAAAGCATCATCATCCTTGGAGAGACTGAGCACTCAGCACCTTCAGCCACGATTTCA
R
GATCGCTTCCTTGTGAGCCGCTGCCTCCGAAATCTCCTTTGAAGCCCAGACATCTTTCTCCAGCTTCAGACTTGTAGATATAACTCGTTCATCTTCATTT
Celera SNP ID:                hCV29345911
SNP Position Transcript:      10012
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3618):
CAGACTTGTAGATATAACTCGTTCATCTTCATTTACTTTCCACTTTGCCCCCTGTCCTCTCTGTGTTCCCCAAATCAGAGAATAGCCCGCCATCCCCCAG
R
TCACCTGTCTGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGG
Celera SNP ID:                hCV15812479
SNP Position Transcript:      10179
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3619):
TGGATTCCTCCCCATTCACCCACCTTGCCAGGTGCAGGTGAGGATGGTGCACCAGACAGGGTAGCTGTCCCCCAAAATGTGCCCTGTGCGGGCAGTGCCC
Y
GTCTCCACGTTTGTTTCCCCAGTGTCTGGCGGGGAGCCAGGTGACATCATAAATACTTGCTGAATGAATGCAGAAATCAGCGGTACTGACTTGTACTATA
Celera SNP ID:                hCV1801170
SNP Position Transcript:      10289
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,92) ; no_pop(T,6|C,4) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3620):
GAACACCACTTCTACACAACCCTCCTTGGTACTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACC
M
ACCCATTTCCACCATGGTATGGTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTT
Celera SNP ID:                hCV31968266
SNP Position Transcript:      11038
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3621):
CTGGGGGAGGGAGAGATCTGACAAATACTGCCCATTCCCCTAGGCTGACTGGATTTGAGAACAAATACCCACCCATTTCCACCATGGTATGGTAACTTCT
S
TGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTGGGATCTGGTC
Celera SNP ID:                hCV15869188
SNP Position Transcript:      11069
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1266|G,222) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3622):
GTAACTTCTCTGAGCTTCAGTTTCCAAGTGAATTTCCATGTAATAGGACATTCCCATTAAATACAAGCTGTTTTTACTTTTTCGCCTCCCAGGGCCTGTG
S
GATCTGGTCCCCCAGCCTCTCTTGGGCTTTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCC
Celera SNP ID:                hCV1801171
SNP Position Transcript:      11160
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,376|G,458) ; no_pop(C,7|G,6) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3623):
TTCTTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCC
W
CCTGCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGG
Celera SNP ID:                hCV8903195
SNP Position Transcript:      11289
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3624):
TTACACTAACTCTGTACCTACCATCTCCTGCCTCCCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGCCTGGAACTTTCCCTCC
W
GCCCCACCAAGATCATTTCATCCAGTCCTGAGCTCAGCTTAAGGGAGGCTTCTTGCCTGTGGGTTCCCTCACCCCCATGCCTGTCCTCCAGGCTGGGGCA
Celera SNP ID:                hCV8903196
SNP Position Transcript:      11292
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|A,1) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3625):
CCTCTTTGTAGCACGTAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTG
Y
ATTTCCTGGTTACTGTATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801172
SNP Position Transcript:      11523
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,54|C,134) ; no_pop(T,5|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Context              (SEQ ID NO:3626):
TAGTGTTGTGGAAACTAAGCCACTAATTGAGTTTCTGGCTCCCCTCCTGGGGTTGTAAGTTTTGTTCATTCATGAGGGCCGACTGTATTTCCTGGTTACT
S
TATCCCAGTGACCAGCCACAGGAGATGTCCAATAAAGTATGTGATGAAATGGTCTTAAAA
Celera SNP ID:                hCV1801173
SNP Position Transcript:      11538
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,36|C,56) ; no_pop(G,4|C,1) ; no_pop(G,-|C,-) ; no_pop(G,33|C,
87)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:434, None



Gene Number:                  71
Celera Gene:                  hCG39654 - 104000117109511
Celera Transcript:            hCT1956213 - 104000117109512
Public Transcript Accession:  NM_022491
Celera Protein:               hCP1765108 - 197000069424647
Public Protein Accession:     NP_071936
Gene Symbol:                  SDS3
Protein Name:                  likely ortholog of mouse Sds3
Celera Genomic Axis:          GA_x5YUV32W46Y(66065091..66118618)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:174):
CGCGAGGCCCCCGTTGCCGAGCGCGGGCGCGGGGGGCGGAGCTCGGCGGAGACGGGGAAGGGGTCGCCGTGGCTGCCGGTCCTCGAGTTGGGGGCTGCCG
CGGACACTGCTAGGCAGACGGCGAGTACCGAGCGCGGGTGGCCGCGGTGTCCGTGGGCCACGCTCAGCTGCGGTCAGAGGCGACATGAGTGCCGCGGGGC
TGCTGGCCCCGGCCCCGGCCCAGGCTGGAGCGCCGCCGGCCCCCGAGTACTACCCCGAGGAGGATGAAGAGCTGGAGAGCGCCGAGGACGACGAGCGCAG
CTGTCGGGGCCGCGAGTCGGACGAAGACACTGAGGATGCTAGTGAAACTGACCTGGCAAAGCATGATGAAGAAGACTATGTAGAATTCAAAATCAGGTAC
ATTACAGGAATATCAGAAGAGAATGAAAAAACTAGATCAGCAGTACAAAGAGAGGATACGGAATGCAGAACTCTTCCTCCAGCTGGAAGTAATAAAGAAA
AGAAGGCAGCAGTGAAAGAATTTGAAGACAAGAAGGTTGAGCTGAAAGAGAACCTGATTGCTGAGCTAGAAGAAAAGAAGAAAATGATTGAAAATGAAAA
GCTGACAATGGAACTGACTGGAGATTCTATGGAGGTGAAACCTATCATGACCAGAAAGTTGCGGAGGCGACCAAATGATCCCGTCCCCATCCCAGACAAG
AGGAGGAAACCTGCTCCAGCCCAGCTAAACTATTTGTTAACAGATGAACAGATCATGGAGGATCTGAGAACATTAAATAAGCTTAAGTCACCCAAGAGAC
CAGCATCTCCATCCTCTCCTGAGCACTTGCCTGCAACACCCGCGGAATCTCCAGCCCAGAGGTTCGAAGCTCGGATAGAAGATGGCAAACTGTACTATGA
CAAAAGATGGTACCACAAGAGCCAGGCCATCTATCTGGAGTCAAAGGACAACCAGAAACTGAGCTGCGTGATCAGTTCTGTAGGAGCCAATGAGATCTGG
GTGAGGAAGACAAGTGACAGCACCAAGATGAGGATCTACCTGGGCCAGCTTCAGCGCGGGCTCTTCGTGATCCGCCGGCGCTCAGCTGCTTGACTTTCTA
CAGTGCTCTTCTCTTGACCCTTTTTCTGGAGTGGGTTTTATTTTTGTTTTGTTTCGTTTTCTCCTTAATAGAAAAATGTTAACTTACTGGGAATAGCTAC
TCAGCCTTGGAAATGGAGAGCACTGCAGTGAATTCTTTAGGGCACTTTTGTGGCCGGATGCTTCCAACTTTGTCAGTCTTTTCTGCCTCAACTTCTTCCA
GACATCAGTCACCATGAGACTGTTTTACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAA
AACCTCCTCTGAGTTTGAAGGGACAGCTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTT
TCATGTTTTGAATCTGATTAGTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTTGCCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGA
TGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACACCATCCATTCCGCTCGCTGAGCGATGGAAAAGCTT
GCCTGGAAGACTATGTGCACTGAAGTAAATGGGGTTGGGGGAGGGGACATTTCATATTTATAATGTGCTGAAGGTACCATATTTTAAATGTTATTTAATG
CAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCTTGTTCCCAA
GTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCTATAGACCC
TCATGCACGATTCAAGTTTCACTCTTGTGGCTGATGCCATTATTGCACATTGGCCATTCCAAACCTGTGGAGAACTTTGTTGTCAGGCCCTGAGCGCTCA
CAGCTTCATTTGGCCCAGGTTGAAGACAAGGAAAGCTCTGCTGTGGCTGCCTCTGGACTGACACCCTCCCTAATGAGTCCTGATGAAACAGCCTTTCCTA
CATCCTTCCCTCACTCCCATGATTGGAGAAATGATTCATTGGGTGATGAGTGTTGGGGTTTTCTATACTCATGTTGCCATCTTGAGATGTTCAAAAAATT
TGGGGTTAGAGCAACTGTTAGCGTCTCTATGAGCAATCAGTAGAACTTACACATCCTAGGAAATCTTTCTTTGTAAGTAATTCTTTTGGTCTCAAGTGAT
TCTCTTCATGTTGTCTCTTGATGTACATACCCCCAAGCAAGTTGGGGGGACTGTGATGACAATTAAATCACCTTCTCTGAAGTTCTGGCTCTGCAGAGAC
CAAACCTTACTGACTTGTACAGACTTGTACAAGTAAAGACTTATACAGATAGATTTTTGTTTTAACTTACAATCCGTTTTTTCCTCTTTTTTTTTTTTTT
TTCTGGTGTTGGAGTCTTATTTAGAAAACAGGATAAATGACGCTGTTATCAAAAGTTGCCTGGGGTTCTGTATTTCTTCTCTGCCCTCCAATCCCCGACT
GCTATGATGTTTACTACAGTGAACCCAGCCCATGGTAAACACAGGCTTCACCTGTTCTTGTTTGTTAGCCTTGACTGTGAGGCAGGACTTCCCTCGCTTG
AACTGTTACACATACGATGTGTGTGTCACATCACATATTGTGCAGCTGTTGGTTTTCATGTAGTGCCCTGCGATGGAAATTAGATATATTTCATGTATTT
TTCCATTGAAGGTGGAGTTTTTCAATGATCATGTGTTTTGTCCTCCTAAACAGTATACCAAAGTTTGTTTTTATAGTTGAGGATTGTATTGATAACCACT
GGGGTTCCGCATTGAAGCAGGAACAAATTGCCTCTTTTTCTGGCCTTCTCTGTGGGACCTCTGCTTTTGTGAAGCAACTATTTATTTGAAGACCAGGGTA
TGGGCACTTTTGCCTTCTCTCCTCTCTGACTTTTGAGGGTATTGAGGGCGCCCTTAGTCATAGTCTCGACTCCGCCATTGCCTTCTCCTCGGCGTCCTCA
CAACTCTTAATTGGGCCTAGTGAAAATGGGGGCAGGTGAGAAGTCCATTTTGAGAATCAGCATAGTAAATTACATTTCTAATCCCAGAGGACTTAATATT
TTCTTTTGTCACCCCAGAGGTGAAAAATCAGCAGTTGAAGCCTGACAGGCCTCAGTGGTGACCAGGAACAGAAGCAGCCTTCCTGTTAGTAGATGGGGGT
ACTTCTGTGGTGGGCAGAAGCCTTACTAAAGGGGAAGACAGACTTTGAAGTTTCTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCA
AAAGGTCATTGTTTCTCACTAGACCCCAGGGCACCAGATGAATTTCCAAGTTTAAACTCTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACC
ATTTTGATCAAGAACCTGTATATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGTACAGTGTTTGCTGCGGGTGTGTTCCAATATTCATTTTACCTC
TGCTTGGGGGTTTTGTGTGTTCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGAACCACGTCCTTTTGAATAATTTCCAGATGGATTTCTGTAGC
CATACCAAAGCCAGGGTGTTTTCATTCATGCGGATACTAGTATTTATAGATGTCTGACTACCTAACTTAATTTTTGTTTTTGAACTTCTAATTGGGGCCA
GTGTAAGGTCGATCCCAGAGGCTGATCTGCAAATCAAGCTACATGTATTTGTGTATAAGACCCTGTGTTCAGGACTGGGTGACTTTTCTAAGAAATATGG
GGTTTAGAATGGGGTTGACTGTATTTTTTAACCTAATTCTGGAGAGAAGATTGTATTTTTTACAGTTTTTTGGGTTTGGCTTCCTTCTCACATTTCTTTA
GCTTTGAATTTTTACTAAATAAATTTCCTCCTGATTAATTTTTTTTTTCTCATCTGGGAATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAA
AGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAAT
ATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTAT
TGTATCCATTGACTTGATAAGTGATAGAAATTTATTTTAGGTTTTTGATCCATTGCTTATGGGGAAAGGAAGTTAGGGCAGAGGAAGGGATATTCTAGAC
ATTTAATTCTTAGTGAAGACTAAGATACAGAATGATGTCAGGCTAATACTCAGTTTTGTAAAGAGCAATCTGGGGTGTTGACCCTTAAATGTTTGTGCAC
TCTTCTTGTTGCAGATAAAAGTCATTAAAAATCAAGTGAATAGAATGGATCTTGGGTGGAAAAACAATCTTGAAATAAACTTGTGATTGAGGA


Protein Sequence     (SEQ ID NO:435):
MSAAGLLAPAPAQAGAPPAPEYYPEEDEELESAEDDERSCRGRESDEDTEDASETDLAKHDEEDYVEFKIRYITGISEENEKTRSAVQREDTECRTLPPA
GSNKEKKAAVKEFEDKKVELKENLIAELEEKKKMIENEKLTMELTGDSMEVKPIMTRKLRRRPNDPVPIPDKRRKPAPAQLNYLLTDEQIMEDLRTLNKL
KSPKRPASPSSPEHLPATPAESPAQRFEARIEDGKLYYDKRWYHKSQAIYLESKDNQKLSCVISSVGANEIWVRKTSDSTKMRIYLGQLQRGLFVIRRRS
AA*



SNP Information


Context              (SEQ ID NO:3627):
AAAATCAGGTACATTACAGGAATATCAGAAGAGAATGAAAAAACTAGATCAGCAGTACAAAGAGAGGATACGGAATGCAGAACTCTTCCTCCAGCTGGAA
R
TAATAAAGAAAAGAAGGCAGCAGTGAAAGAATTTGAAGACAAGAAGGTTGAGCTGAAAGAGAACCTGATTGCTGAGCTAGAAGAAAAGAAGAAAATGATT
Celera SNP ID:                hCV15959220
SNP Position Transcript:      489
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2402|A,598) ; no_pop(G,-|A,-) ; no_pop(G,240|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:435, 102,(S,AGT) (N,AAT)



Context              (SEQ ID NO:3628):
TACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAGGGACA
R
CTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATGTTTTGAATCTGATTAGTGGAT
Celera SNP ID:                hCV30723705
SNP Position Transcript:      1426
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3629):
GAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATGTTTTGAATCTGATTAGTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTT
S
CCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACAC
Celera SNP ID:                hCV7524128
SNP Position Transcript:      1566
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1531|C,59) ; no_pop(G,-|C,-) ; no_pop(G,969|C,87) ; no_pop(G,
96|C,16)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3630):
TATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCT
Y
GTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCT
Celera SNP ID:                hCV32293411
SNP Position Transcript:      1892
SNP Source:                   ABI_Val
Population(Allele,Count):     no_pop(T,77|C,43)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3631):
CCCAAGCAAGTTGGGGGGACTGTGATGACAATTAAATCACCTTCTCTGAAGTTCTGGCTCTGCAGAGACCAAACCTTACTGACTTGTACAGACTTGTACA
R
GTAAAGACTTATACAGATAGATTTTTGTTTTAACTTACAATCCGTTTTTTCCTCTTTTTTTTTTTTTTTTCTGGTGTTGGAGTCTTATTTAGAAAACAGG
Celera SNP ID:                hCV32293410
SNP Position Transcript:      2532
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3632):
TTTCAATGATCATGTGTTTTGTCCTCCTAAACAGTATACCAAAGTTTGTTTTTATAGTTGAGGATTGTATTGATAACCACTGGGGTTCCGCATTGAAGCA
R
GAACAAATTGCCTCTTTTTCTGGCCTTCTCTGTGGGACCTCTGCTTTTGTGAAGCAACTATTTATTTGAAGACCAGGGTATGGGCACTTTTGCCTTCTCT
Celera SNP ID:                hCV26060536
SNP Position Transcript:      3020
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,5|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3633):
CAGTGGTGACCAGGAACAGAAGCAGCCTTCCTGTTAGTAGATGGGGGTACTTCTGTGGTGGGCAGAAGCCTTACTAAAGGGGAAGACAGACTTTGAAGTT
K
CTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCAAAAGGTCATTGTTTCTCACTAGACCCCAGGGCACCAGATGAATTTCCAAGTTT
Celera SNP ID:                hCV27908398
SNP Position Transcript:      3453
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3634):
TGGTGGGCAGAAGCCTTACTAAAGGGGAAGACAGACTTTGAAGTTTCTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCAAAAGGTC
R
TTGTTTCTCACTAGACCCCAGGGCACCAGATGAATTTCCAAGTTTAAACTCTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGAT
Celera SNP ID:                hCV28009440
SNP Position Transcript:      3508
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3635):
CTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGATCAAGAACCTGTATATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGT
R
CAGTGTTTGCTGCGGGTGTGTTCCAATATTCATTTTACCTCTGCTTGGGGGTTTTGTGTGTTCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGA
Celera SNP ID:                hCV15968730
SNP Position Transcript:      3659
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,880|G,582) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3636):
AGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGATCAAGAACCTGTATATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGTACAGTGTTT
K
CTGCGGGTGTGTTCCAATATTCATTTTACCTCTGCTTGGGGGTTTTGTGTGTTCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGAACCACGTCC
Celera SNP ID:                hCV16089896
SNP Position Transcript:      3668
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,10|T,1) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3637):
CATGCGGATACTAGTATTTATAGATGTCTGACTACCTAACTTAATTTTTGTTTTTGAACTTCTAATTGGGGCCAGTGTAAGGTCGATCCCAGAGGCTGAT
Y
TGCAAATCAAGCTACATGTATTTGTGTATAAGACCCTGTGTTCAGGACTGGGTGACTTTTCTAAGAAATATGGGGTTTAGAATGGGGTTGACTGTATTTT
Celera SNP ID:                hCV30723704
SNP Position Transcript:      3927
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3638):
CTGGAGAGAAGATTGTATTTTTTACAGTTTTTTGGGTTTGGCTTCCTTCTCACATTTCTTTAGCTTTGAATTTTTACTAAATAAATTTCCTCCTGATTAA
W
TTTTTTTTTCTCATCTGGGAATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTT
Celera SNP ID:                hCV7524138
SNP Position Transcript:      4139
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3639):
ATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTG
R
TGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAA
Celera SNP ID:                hCV7524139
SNP Position Transcript:      4260
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,49|A,43) ; no_pop(G,-|A,-) ; no_pop(G,54|A,66)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3640):
ACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAAC
R
GGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGC
Celera SNP ID:                hCV3029927
SNP Position Transcript:      4287
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,6|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3641):
TTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGG
K
TTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTATTGTATCCATTGACTTGATAAGTGATAGAAATTTATTTT
Celera SNP ID:                hCV7524140
SNP Position Transcript:      4338
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,83|G,9) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3642):
AATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTATTGTATCCATTGACTTGATAA
R
TGATAGAAATTTATTTTAGGTTTTTGATCCATTGCTTATGGGGAAAGGAAGTTAGGGCAGAGGAAGGGATATTCTAGACATTTAATTCTTAGTGAAGACT
Celera SNP ID:                hCV29643147
SNP Position Transcript:      4421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Context              (SEQ ID NO:3643):
ATCTGGGGTGTTGACCCTTAAATGTTTGTGCACTCTTCTTGTTGCAGATAAAAGTCATTAAAAATCAAGTGAATAGAATGGATCTTGGGTGGAAAAACAA
Y
CTTGAAATAAACTTGTGATTGAGGA
Celera SNP ID:                hCV28971110
SNP Position Transcript:      4668
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:435, None



Gene Number:                  71
Celera Gene:                  hCG39654 - 104000117109511
Celera Transcript:            hCT2309040 - 104000117109561
Public Transcript Accession:  NM_022491
Celera Protein:               hCP1881386 - 197000069424650
Public Protein Accession:     NP_071936
Gene Symbol:                  SDS3
Protein Name:                  likely ortholog of mouse Sds3
Celera Genomic Axis:          GA_x5YUV32W46Y(66065091..66118618)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:175):
CGCGAGGCCCCCGTTGCCGAGCGCGGGCGCGGGGGGCGGAGCTCGGCGGAGACGGGGAAGGGGTCGCCGTGGCTGCCGGTCCTCGAGTTGGGGGCTGCCG
CGGACACTGCTAGGCAGACGGCGAGTACCGAGCGCGGGTGGCCGCGGTGTCCGTGGGCCACGCTCAGCTGCGGTCAGAGGCGACATGAGTGCCGCGGGGC
TGCTGGCCCCGGCCCCGGCCCAGGCTGGAGCGCCGCCGGCCCCCGAGTACTACCCCGAGGAGGATGAAGAGCTGGAGAGCGCCGAGGACGACGAGCGCAG
CTGTCGGGGCCGCGAGTCGGACGAAGACACTGAGGATGCTAGTGAAACTGACCTGGCAAAGCATGATGAAGAAGACTATGTAGAAATGAAGGAACAGATG
TATCAGGACAAACTGGCTTCTCTCAAGAGGCAGTTGCAACAACTGCAAGAAGGTACATTACAGGAATATCAGAAGAGAATGAAAAAACTAGATCAGCAGT
ACAAAGAGAGGATACGGAATGCAGAACTCTTCCTCCAGCTGGAAACTGAACAAGTGGAACGAAATTACATTAAAGAAAAGAAGGCAGCAGTGAAAGAATT
TGAAGACAAGAAGGTTGAGCTGAAAGAGAACCTGATTGCTGAGCTAGAAGAAAAGAAGAAAATGATTGAAAATGAAAAGCTGACAATGGAACTGACTGGA
GATTCTATGGAGGTGAAACCTATCATGACCAGAAAGTTGCGGAGGCGACCAAATGATCCCGTCCCCATCCCAGACAAGAGGAGGAAACCTGCTCCAGATA
TCCTAAACTATTTGTTAACAGATGAACAGATCATGGAGGATCTGAGAACATTAAATAAGCTTAAGTCACCCAAGAGACCAGCATCTCCATCCTCTCCTGA
GCACTTGCCTGCAACACCCGCGGAATCTCCAGCCCAGAGGTTCGAAGCTCGGATAGAAGATGGCAAACTGTACTATGACAAAAGATGGTACCACAAGAGC
CAGGCCATCTATCTGGAGTCAAAGGACAACCAGAAACTGAGCTGCGTGATCAGTTCTGTAGGAGCCAATGAGATCTGGGTGAGGAAGACAAGTGACAGCA
CCAAGATGAGGATCTACCTGGGCCAGCTTCAGCGCGGGCTCTTCGTGATCCGCCGGCGCTCAGCTGCTTGACTTTCTACAGTGCTCTTCTCTTGACCCTT
TTTCTGGAGTGGGTTTTATTTTTGTTTTGTTTCGTTTTCTCCTTAATAGAAAAATGTTAACTTACTGGGAATAGCTACTCAGCCTTGGAAATGGAGAGCA
CTGCAGTGAATTCTTTAGGGCACTTTTGTGGCCGGATGCTTCCAACTTTGTCAGTCTTTTCTGCCTCAACTTCTTCCAGACATCAGTCACCATGAGACTG
TTTTACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAGGG
ACAGCTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAGCTA
CTTTCCCTGTCGCGTCCAATTCACTATTTGCCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAA
ATAAATGCTTTGTGTAACATCTGTGCACACCATCCATTCCGCTCGCTGAGCGATGGAAAAGCTTGCCTGGAAGACTATGTGCACTGAAGTAAATGGGGTT
GGGGGAGGGGACATTTCATATTTATAATGTGCTGAAGGTACCATATTTTAAATGTTATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGC
TGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCTTGTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTAT
CTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCTATAGACCCTCATGCACGATTCAAGTTTCACTCTTGTGGCTGATG
CCATTATTGCACATTGGCCATTCCAAACCTGTGGAGAACTTTGTTGTCAGGCCCTGAGCGCTCACAGCTTCATTTGGCCCAGGTTGAAGACAAGGAAAGC
TCTGCTGTGGCTGCCTCTGGACTGACACCCTCCCTAATGAGTCCTGATGAAACAGCCTTTCCTACATCCTTCCCTCACTCCCATGATTGGAGAAATGATT
CATTGGGTGATGATAGAGCAACTGTTAGCGTCTCTATGAGCAATCAGTAGAACTTACACATCCTAGGAAATCTTTCTTTGTAAGTA


Protein Sequence     (SEQ ID NO:436):
MSAAGLLAPAPAQAGAPPAPEYYPEEDEELESAEDDERSCRGRESDEDTEDASETDLAKHDEEDYVEMKEQMYQDKLASLKRQLQQLQEGTLQEYQKRMK
KLDQQYKERIRNAELFLQLETEQVERNYIKEKKAAVKEFEDKKVELKENLIAELEEKKKMIENEKLTMELTGDSMEVKPIMTRKLRRRPNDPVPIPDKRR
KPAPDILNYLLTDEQIMEDLRTLNKLKSPKRPASPSSPEHLPATPAESPAQRFEARIEDGKLYYDKRWYHKSQAIYLESKDNQKLSCVISSVGANEIWVR
KTSDSTKMRIYLGQLQRGLFVIRRRSAA*



SNP Information


Context              (SEQ ID NO:3644):

R

Celera SNP ID:                hCV15959220
SNP Position Transcript:
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2402|A,598) ; no_pop(G,-|A,-) ; no_pop(G,240|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:436, None



Context              (SEQ ID NO:3645):
TACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAGGGACA
R
CTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAGCTACTTT
Celera SNP ID:                hCV30723705
SNP Position Transcript:      1504
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:436, None



Context              (SEQ ID NO:3646):
CTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTT
S
CCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACAC
Celera SNP ID:                hCV7524128
SNP Position Transcript:      1630
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1531|C,59) ; no_pop(G,-|C,-) ; no_pop(G,969|C,87) ; no_pop(G,
96|C,16)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:436, None



Context              (SEQ ID NO:3647):
TATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCT
Y
GTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCT
Celera SNP ID:                hCV32293411
SNP Position Transcript:      1956
SNP Source:                   ABI_Val
Population(Allele,Count):     no_pop(T,77|C,43)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:436, None



Gene Number:                  71
Celera Gene:                  hCG39654 - 104000117109511
Celera Transcript:            hCT2309043 - 104000117109543
Public Transcript Accession:  NM_022491
Celera Protein:               hCP1881385 - 197000069424649
Public Protein Accession:     NP_071936
Gene Symbol:                  SDS3
Protein Name:                  likely ortholog of mouse Sds3
Celera Genomic Axis:          GA_x5YUV32W46Y(66065091..66118618)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:176):
CGCCGTGGCTGCCGGTCCTCGAGTTGGGGGCTGCCGCGGACACTGCTAGGCAGACGGCGAGTACCGAGCGCGGGTGGCCGCGGTGTCCGTGGGCCACGCT
CAGCTGCGGTCAGAGGCGACATGAGTGCCGCGGGGCTGCTGGCCCCGGCCCCGGCCCAGGCTGGAGCGCCGCCGCTGGAGAGCGCCGAGGACGACGAGCG
CAGCTGTCGGGGCCGCGAGTCGGACGAAGACACTGAGGATGCTAGTGAAACTGACCTGGCAAAGCATGATGAAGAAGACTATGTAGAAATGAAGGAACAG
ATGTATCAGGACAAACTGGCTTCTCTCAAGAGGCAGTTGCAACAACTGCAAGAAGGTACATTACAGGAATATCAGAAGAGAATGAAAAAACTAGATCAGC
AGTACAAAGAGAGGATACGGAATGCAGAACTCTTCCTCCAGCTGGAAACTGAACAAGTGGAACGAAATTACATTAAAGAAAAGAAGGCAGCAGTGAAAGA
ATTTGAAGACAAGAAGGTTGAGCTGAAAGAGAACCTGATTGCTGAGCTAGAAGAAAAGAAGAAAATGATTGAAAATGAAAAGCTGACAATGGAACTGACT
GGAGATTCTATGGAGGTGAAACCTATCATGACCAGAAAGTTGCGGAGGCGACCAAATGATCCCGTCCCCATCCCAGACAAGAGGAGGAAACCTGCTCCAG
CCCAGCTAAACTATTTGTTAACAGATGAACAGATCATGGAGGATCTGAGAACATTAAATAAGCTTAAGTCACCCAAGAGACCAGCATCTCCATCCTCTCC
TGAGCACTTGCCTGCAACACCCGCGGAATCTCCAGCCCAGAGGTTCGAAGCTCGGATAGAAGATGGCAAACTGTACTATGACAAAAGATGGTACCACAAG
AGCCAGGCCATCTATCTGGAGTCAAAGGACAACCAGAAACTGAGCTGCGTGATCAGTTCTGTAGGAGCCAATGAGATCTGGGTGAGGAAGACAAGTGACA
GCACCAAGATGAGGATCTACCTGGGCCAGCTTCAGCGCGGGCTCTTCGTGATCCGCCGGCGCTCAGCTGCTTGACTTTCTACAGTGCTCTTCTCTTGACC
CTTTTTCTGGAGTGGGTTTTATTTTTGTTTTGTTTCGTTTTCTCCTTAATAGAAAAATGTTAACTTACTGGGAATAGCTACTCAGCCTTGGAAATGGAGA
GCACTGCAGTGAATTCTTTAGGGCACTTTTGTGGCCGGATGCTTCCAACTTTGTCAGTCTTTTCTGCCTCAACTTCTTCCAGACATCAGTCACCATGAGA
CTGTTTTACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAA
GGGACAGCTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAG
CTACTTTCCCTGTCGCGTCCAATTCACTATTTGCCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGA
GAAATAAATGCTTTGTGTAACATCTGTGCACACCATCCATTCCGCTCGCTGAGCGATGGAAAAGCTTGCCTGGAAGACTATGTGCACTGAAGTAAATGGG
GTTGGGGGAGGGGACATTTCATATTTATAATGTGCTGAAGGTACCATATTTTAAATGTTATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTA
AGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCTTGTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGAT
TATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCTATAGACCCTCATGCACGATTCAAGTTTCACTCTTGTGGCTG
ATGCCATTATTGCACATTGGCCATTCCAAACCTGTGGAGAACTTTGTTGTCAGGCCCTGAGCGCTCACAGCTTCATTTGGCCCAGGTTGAAGACAAGGAA
AGCTCTGCTGTGGCTGCCTCTGGACTGACACCCTCCCTAATGAGTCCTGATGAAACAGCCTTTCCTACATCCTTCCCTCACTCCCATGATTGGAGAAATG
ATTCATTGGGTGATGA


Protein Sequence     (SEQ ID NO:437):
MSAAGLLAPAPAQAGAPPLESAEDDERSCRGRESDEDTEDASETDLAKHDEEDYVEMKEQMYQDKLASLKRQLQQLQEGTLQEYQKRMKKLDQQYKERIR
NAELFLQLETEQVERNYIKEKKAAVKEFEDKKVELKENLIAELEEKKKMIENEKLTMELTGDSMEVKPIMTRKLRRRPNDPVPIPDKRRKPAPAQLNYLL
TDEQIMEDLRTLNKLKSPKRPASPSSPEHLPATPAESPAQRFEARIEDGKLYYDKRWYHKSQAIYLESKDNQKLSCVISSVGANEIWVRKTSDSTKMRIY
LGQLQRGLFVIRRRSAA*



SNP Information


Context              (SEQ ID NO:3648):

R

Celera SNP ID:                hCV15959220
SNP Position Transcript:
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2402|A,598) ; no_pop(G,-|A,-) ; no_pop(G,240|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:437, None



Context              (SEQ ID NO:3649):
TACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAGGGACA
R
CTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAGCTACTTT
Celera SNP ID:                hCV30723705
SNP Position Transcript:      1407
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:437, None



Context              (SEQ ID NO:3650):
CTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATTAGTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTT
S
CCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACAC
Celera SNP ID:                hCV7524128
SNP Position Transcript:      1533
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1531|C,59) ; no_pop(G,-|C,-) ; no_pop(G,969|C,87) ; no_pop(G,
96|C,16)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:437, None



Context              (SEQ ID NO:3651):
TATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCT
Y
GTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCT
Celera SNP ID:                hCV32293411
SNP Position Transcript:      1859
SNP Source:                   ABI_Val
Population(Allele,Count):     no_pop(T,77|C,43)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:437, None



Gene Number:                  71
Celera Gene:                  hCG39654 - 104000117109511
Celera Transcript:            hCT30906 - 104000117109527
Public Transcript Accession:
Celera Protein:               hCP49430 - 197000069424648
Public Protein Accession:
Gene Symbol:                  SDS3
Protein Name:                  likely ortholog of mouse Sds3
Celera Genomic Axis:          GA_x5YUV32W46Y(66065091..66118618)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:177):
CGCGAGGCCCCCGTTGCCGAGCGCGGGCGCGGGGGGCGGAGCTCGGCGGAGACGGGGAAGGGGTCGCCGTGGCTGCCGGTCCTCGAGTTGGGGGCTGCCG
CGGACACTGCTAGGCAGACGGCGAGTACCGAGCGCGGGTGGCCGCGGTGTCCGTGGGCCACGCTCAGCTGCGGTCAGAGGCGACATGAGTGCCGCGGGGC
TGCTGGCCCCGGCCCCGGCCCAGGCTGGAGCGCCGCCGGCCCCCGAGTACTACCCCGAGGAGGATGAAGAGCTGGAGAGCGCCGAGGACGACGAGCGCAG
CTGTCGGGGCCGCGAGTCGGACGAAGACACTGAGGATGCTAGTGAAACTGACCTGGCAAAGCATGATGAAGAAGACTATGTAGAAATGAAGGAACAGATG
TATCAGGACAAACTGGCTTCTCTCAAGAGGCAGTTGCAACAACTGCAAGAAGGTACATTACAGGAATATCAGAAGAGAATGAAAAAACTAGATCAGCAGT
ACAAAGAGAGGATACGGAATGCAGAACTCTTCCTCCAGCTGGAAACTGAACAAGTGGAACGAAATTACATTAAAGAAAAGAAGGCAGCAGTGAAAGAATT
TGAAGACAAGAAGGTTGAGCTGAAAGAGAACCTGATTGCTGAGCTAGAAGAAAAGAAGAAAATGATTGAAAATGAAAAGCTGACAATGGAACTGACTGGA
GATTCTATGGAGGTGAAACCTATCATGACCAGAAAGTTGCGGAGGCGACCAAATGATCCCGTCCCCATCCCAGACAAGAGGAGGAAACCTGCTCCAGATA
TCCACTAAACTATTTGTTAACAGATGAACAGATCATGGAGGATCTGAGAACATTAAATAAGCTTAAGTCACCCAAGAGACCAGCATCTCCATCCTCTCCT
GAGCACTTGCCTGCAACACCCGCGGAATCTCCAGCCCAGAGGTTCGAAGCTCGGATAGAAGATGGCAAACTGTACTATGACAAAAGATGGTACCACAAGA
GCCAGGCCATCTATCTGGAGTCAAAGGACAACCAGAAACTGAGCTGCGTGATCAGTTCTGTAGGAGCCAATGAGATCTGGGTGAGGAAGACAAGTGACAG
CACCAAGATGAGGATCTACCTGGGCCAGCTTCAGCGCGGGCTCTTCGTGATCCGCCGGCGCTCAGCTGCTTGACTTTCTACAGTGCTCTTCTCTTGACCC
TTTTTCTGGAGTGGGTTTTATTTTTGTTTTGTTTCGTTTTCTCCTTAATAGAAAAATGTTAACTTACTGGGAATAGCTACTCAGCCTTGGAAATGGAGAG
CACTGCAGTGAATTCTTTAGGGCACTTTTGTGGCCGGATGCTTCCAACTTTGTCAGTCTTTTCTGCCTCAACTTCTTCCAGACATCAGTCACCATGAGAC
TGTTTTACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAG
GGACAGCTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATGTTTTGAATCTGATTA
GTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTTGCCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCT
CGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACACCATCCATTCCGCTCGCTGAGCGATGGAAAAGCTTGCCTGGAAGACTATGTGCAC
TGAAGTAAATGGGGTTGGGGGAGGGGACATTTCATATTTATAATGTGCTGAAGGTACCATATTTTAAATGTTATTTAATGCAGGTGATTTATTCAAACAT
TTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCTTGTTCCCAAGTAGGTAGTAGTAAGTATGT
GCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCTATAGACCCTCATGCACGATTCAAGTTTC
ACTCTTGTGGCTGATGCCATTATTGCACATTGGCCATTCCAAACCTGTGGAGAACTTTGTTGTCAGGCCCTGAGCGCTCACAGCTTCATTTGGCCCAGGT
TGAAGACAAGGAAAGCTCTGCTGTGGCTGCCTCTGGACTGACACCCTCCCTAATGAGTCCTGATGAAACAGCCTTTCCTACATCCTTCCCTCACTCCCAT
GATTGGAGAAATGATTCATTGGGTGATGAGTGTTGGGGTTTTCTATACTCATGTTGCCATCTTGAGATGTTCAAAAAATTTGGGGTTAGAGCAACTGTTA
GCGTCTCTATGAGCAATCAGTAGAACTTACACATCCTAGGAAATCTTTCTTTGTAAGTAATTCTTTTGGTCTCAAGTGATTCTCTTCATGTTGTCTCTTG
ATGTACATACCCCCAAGCAAGTTGGGGGGACTGTGATGACAATTAAATCACCTTCTCTGAAGTTCTGGCTCTGCAGAGACCAAACCTTACTGACTTGTAC
AGACTTGTACAAGTAAAGACTTATACAGATAGATTTTTGTTTTAACTTACAATCCGTTTTTTCCTCTTTTTTTTTTTTTTTTCTGGTGTTGGAGTCTTAT
TTAGAAAACAGGATAAATGACGCTGTTATCAAAAGTTGCCTGGGGTTCTGTATTTCTTCTCTGCCCTCCAATCCCCGACTGCTATGATGTTTACTACAGT
GAACCCAGCCCATGGTAAACACAGGCTTCACCTGTTCTTGTTTGTTAGCCTTGACTGTGAGGCAGGACTTCCCTCGCTTGAACTGTTACACATACGATGT
GTGTGTCACATCACATATTGTGCAGCTGTTGGTTTTCATGTAGTGCCCTGCGATGGAAATTAGATATATTTCATGTATTTTTCCATTGAAGGTGGAGTTT
TTCAATGATCATGTGTTTTGTCCTCCTAAACAGTATACCAAAGTTTGTTTTTATAGTTGAGGATTGTATTGATAACCACTGGGGTTCCGCATTGAAGCAG
GAACAAATTGCCTCTTTTTCTGGCCTTCTCTGTGGGACCTCTGCTTTTGTGAAGCAACTATTTATTTGAAGACCAGGGTATGGGCACTTTTGCCTTCTCT
CCTCTCTGACTTTTGAGGGTATTGAGGGCGCCCTTAGTCATAGTCTCGACTCCGCCATTGCCTTCTCCTCGGCGTCCTCACAACTCTTAATTGGGCCTAG
TGAAAATGGGGGCAGGTGAGAAGTCCATTTTGAGAATCAGCATAGTAAATTACATTTCTAATCCCAGAGGACTTAATATTTTCTTTTGTCACCCCAGAGG
TGAAAAATCAGCAGTTGAAGCCTGACAGGCCTCAGTGGTGACCAGGAACAGAAGCAGCCTTCCTGTTAGTAGATGGGGGTACTTCTGTGGTGGGCAGAAG
CCTTACTAAAGGGGAAGACAGACTTTGAAGTTTCTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCAAAAGGTCATTGTTTCTCACT
AGACCCCAGGGCACCAGATGAATTTCCAAGTTTAAACTCTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGATCAAGAACCTGTA
TATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGTACAGTGTTTGCTGCGGGTGTGTTCCAATATTCATTTTACCTCTGCTTGGGGGTTTTGTGTGT
TCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGAACCACGTCCTTTTGAATAATTTCCAGATGGATTTCTGTAGCCATACCAAAGCCAGGGTGTT
TTCATTCATGCGGATACTAGTATTTATAGATGTCTGACTACCTAACTTAATTTTTGTTTTTGAACTTCTAATTGGGGCCAGTGTAAGGTCGATCCCAGAG
GCTGATCTGCAAATCAAGCTACATGTATTTGTGTATAAGACCCTGTGTTCAGGACTGGGTGACTTTTCTAAGAAATATGGGGTTTAGAATGGGGTTGACT
GTATTTTTTAACCTAATTCTGGAGAGAAGATTGTATTTTTTACAGTTTTTTGGGTTTGGCTTCCTTCTCACATTTCTTTAGCTTTGAATTTTTACTAAAT
AAATTTCCTCCTGATTAATTTTTTTTTTCTCATCTGGGAATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAAAGAGTTGAAATCACTTTAAT
GCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAATATTCTGAGAGGTGAATGTAA
AATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTATTGTATCCATTGACTTGATAA
GTGATAGAAATTTATTTTAGGTTTTTGATCCATTGCTTATGGGGAAAGGAAGTTAGGGCAGAGGAAGGGATATTCTAGACATTTAATTCTTAGTGAAGAC
TAAGATACAGAATGATGTCAGGCTAATACTCAGTTTTGTAAAGAGCAATCTGGGGTGTTGACCCTTAAATGTTTGTGCACTCTTCTTGTTGCAGATAAAA
GTCATTAAAAATCAAGTGAATAGAATGGATCTTGGGTGGAAAAACAATCTTGAAATAAACTTGTGATTGAGGA


Protein Sequence     (SEQ ID NO:438):
MSAAGLLAPAPAQAGAPPAPEYYPEEDEELESAEDDERSCRGRESDEDTEDASETDLAKHDEEDYVEMKEQMYQDKLASLKRQLQQLQEGTLQEYQKRMK
KLDQQYKERIRNAELFLQLETEQVERNYIKEKKAAVKEFEDKKVELKENLIAELEEKKKMIENEKLTMELTGDSMEVKPIMTRKLRRRPNDPVPIPDKRR
KPAPDIH*



SNP Information


Context              (SEQ ID NO:3652):

R

Celera SNP ID:                hCV15959220
SNP Position Transcript:
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,2402|A,598) ; no_pop(G,-|A,-) ; no_pop(G,240|A,-)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3653):
TACTTTCAGGCGTATTGGGGGGTTTGATTTACTTTCCTTTTATTTCTTTATTTTTTGCTTATACTTGTTTTTGAAAACCTCCTCTGAGTTTGAAGGGACA
R
CTATTTTTATTGATTATCTTTAAGTCTCTCTACCATGGAGAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATGTTTTGAATCTGATTAGTGGAT
Celera SNP ID:                hCV30723705
SNP Position Transcript:      1506
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3654):
GAAGAGCAGGAAGGGATACACTCTCCAGTGCATTTTCATGTTTTGAATCTGATTAGTGGATCACGTAGCTACTTTCCCTGTCGCGTCCAATTCACTATTT
S
CCCAGAAGCTTGGGGCAGAGGTCCTAGCAGGAGATGATGAATTCTCGTGGCTCTCGGCCTTCTCAGAGAAATAAATGCTTTGTGTAACATCTGTGCACAC
Celera SNP ID:                hCV7524128
SNP Position Transcript:      1646
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,1531|C,59) ; no_pop(G,-|C,-) ; no_pop(G,969|C,87) ; no_pop(G,
96|C,16)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3655):
TATTTAATGCAGGTGATTTATTCAAACATTTGTTCTAGCTTAAGCTGGAATAAGCAGTGGTCATTTCAGAAGTTTTCATTTGTAATTCCTTCCTCTCCCT
Y
GTTCCCAAGTAGGTAGTAGTAAGTATGTGCCACAGGCTGATTATCTGGGTAATCTTTTACGGGTGGGAGGTGAGATTGATAGTGCAATAATCAGTGATCT
Celera SNP ID:                hCV32293411
SNP Position Transcript:      1972
SNP Source:                   ABI_Val
Population(Allele,Count):     no_pop(T,77|C,43)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3656):
CCCAAGCAAGTTGGGGGGACTGTGATGACAATTAAATCACCTTCTCTGAAGTTCTGGCTCTGCAGAGACCAAACCTTACTGACTTGTACAGACTTGTACA
R
GTAAAGACTTATACAGATAGATTTTTGTTTTAACTTACAATCCGTTTTTTCCTCTTTTTTTTTTTTTTTTCTGGTGTTGGAGTCTTATTTAGAAAACAGG
Celera SNP ID:                hCV32293410
SNP Position Transcript:      2612
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3657):
TTTCAATGATCATGTGTTTTGTCCTCCTAAACAGTATACCAAAGTTTGTTTTTATAGTTGAGGATTGTATTGATAACCACTGGGGTTCCGCATTGAAGCA
R
GAACAAATTGCCTCTTTTTCTGGCCTTCTCTGTGGGACCTCTGCTTTTGTGAAGCAACTATTTATTTGAAGACCAGGGTATGGGCACTTTTGCCTTCTCT
Celera SNP ID:                hCV26060536
SNP Position Transcript:      3100
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,5|A,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3658):
CAGTGGTGACCAGGAACAGAAGCAGCCTTCCTGTTAGTAGATGGGGGTACTTCTGTGGTGGGCAGAAGCCTTACTAAAGGGGAAGACAGACTTTGAAGTT
K
CTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCAAAAGGTCATTGTTTCTCACTAGACCCCAGGGCACCAGATGAATTTCCAAGTTT
Celera SNP ID:                hCV27908398
SNP Position Transcript:      3533
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3659):
TGGTGGGCAGAAGCCTTACTAAAGGGGAAGACAGACTTTGAAGTTTCTAGACGAGAAGGAGGCTAGCTTCTAGCCTGGGTGGCCATTATTCCAAAAGGTC
R
TTGTTTCTCACTAGACCCCAGGGCACCAGATGAATTTCCAAGTTTAAACTCTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGAT
Celera SNP ID:                hCV28009440
SNP Position Transcript:      3588
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3660):
CTTTCCTGCAGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGATCAAGAACCTGTATATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGT
R
CAGTGTTTGCTGCGGGTGTGTTCCAATATTCATTTTACCTCTGCTTGGGGGTTTTGTGTGTTCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGA
Celera SNP ID:                hCV15968730
SNP Position Transcript:      3739
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,880|G,582) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3661):
AGGTGATTACTTTGAAAAAGGTTGGTCCAGACCATTTTGATCAAGAACCTGTATATGTGTTGTGTTAGAGGCATCTGCCTCAAGTCTATGTACAGTGTTT
K
CTGCGGGTGTGTTCCAATATTCATTTTACCTCTGCTTGGGGGTTTTGTGTGTTCCCCTCCCCCCATGCCCTGCCTACCCCCTTTTCCCTGAACCACGTCC
Celera SNP ID:                hCV16089896
SNP Position Transcript:      3748
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,10|T,1) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3662):
CATGCGGATACTAGTATTTATAGATGTCTGACTACCTAACTTAATTTTTGTTTTTGAACTTCTAATTGGGGCCAGTGTAAGGTCGATCCCAGAGGCTGAT
Y
TGCAAATCAAGCTACATGTATTTGTGTATAAGACCCTGTGTTCAGGACTGGGTGACTTTTCTAAGAAATATGGGGTTTAGAATGGGGTTGACTGTATTTT
Celera SNP ID:                hCV30723704
SNP Position Transcript:      4007
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3663):
CTGGAGAGAAGATTGTATTTTTTACAGTTTTTTGGGTTTGGCTTCCTTCTCACATTTCTTTAGCTTTGAATTTTTACTAAATAAATTTCCTCCTGATTAA
W
TTTTTTTTTCTCATCTGGGAATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTT
Celera SNP ID:                hCV7524138
SNP Position Transcript:      4219
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3664):
ATTTGAAATCTCGGTGCTTACTGTTACACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTG
R
TGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAA
Celera SNP ID:                hCV7524139
SNP Position Transcript:      4340
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,49|A,43) ; no_pop(G,-|A,-) ; no_pop(G,54|A,66)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3665):
ACCAATTTGTCCAAAGAGTTGAAATCACTTTAATGCCAGAACATGGTAAATTTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAAC
R
GGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGC
Celera SNP ID:                hCV3029927
SNP Position Transcript:      4367
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,6|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3666):
TTGCAGCCATTTCAAGCAGGTGATGGTCTTTTTTTATAACATCGTTAACGGGTACCATTAAATATTCTGAGAGGTGAATGTAAAATATAAAAGGTATAGG
K
TTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTATTGTATCCATTGACTTGATAAGTGATAGAAATTTATTTT
Celera SNP ID:                hCV7524140
SNP Position Transcript:      4418
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,83|G,9) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3667):
AATATAAAAGGTATAGGTTTTTTTTTTTTTTTAAAGAAAACAATAAACTTTCAAAGAGAAAACCAGCATGAAGTCTGTATTGTATCCATTGACTTGATAA
R
TGATAGAAATTTATTTTAGGTTTTTGATCCATTGCTTATGGGGAAAGGAAGTTAGGGCAGAGGAAGGGATATTCTAGACATTTAATTCTTAGTGAAGACT
Celera SNP ID:                hCV29643147
SNP Position Transcript:      4501
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Context              (SEQ ID NO:3668):
ATCTGGGGTGTTGACCCTTAAATGTTTGTGCACTCTTCTTGTTGCAGATAAAAGTCATTAAAAATCAAGTGAATAGAATGGATCTTGGGTGGAAAAACAA
Y
CTTGAAATAAACTTGTGATTGAGGA
Celera SNP ID:                hCV28971110
SNP Position Transcript:      4748
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:438, None



Gene Number:                  72
Celera Gene:                  hCG39709 - 62000133326240
Celera Transcript:            hCT2280202 - 62000133326241
Public Transcript Accession:
Celera Protein:               hCP1803834 - 197000064936475
Public Protein Accession:
Gene Symbol:                  76P
Protein Name:                  gamma tubulin ring complex protein (76p gene)
Celera Genomic Axis:          GA_x5YUV32W323(10710679..10758589)
Chromosome:                   15
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:178):
GCACCGAGGGCGCATGCGCGAGGGCAGCGACCGCGACTCAGTCTCCGCAGAGCCCGGGCGGGAGTAGCTGGTGGACCCCGTTGAGCTGCCGAACTTCCGG
GACTCCCCCGCGACCCCTTCCCAGCTTCCCGTCCGCTCCGCCGCAGCGATTGTCTCGGTGGGTTGATTCGGCACAAACCGCCCGACCCAGGGGCCGGTGC
GCGTGTGGAAGGGGAAGCACTCCCCTCGTGGTCGCCTGGAGGTGCGCTGGAGGAGGGGGTGACATAACCAGGGACTCGAGGTCCGCCGTGGGAATGATCC
ACGAACTGCTCTTGGCTCTGAGCGGGTACCCTGGGTCCATTTTCACCTGGAACAAGCGGAGTGGCCTGCAGGTATCGCAGGACTTCCCTTTCCTCCACCC
CAGTGAGACCAGTGTCCTGAATCGACTCTGCCGGCTCGGCACAGACTATATTCGCTTCACTGAGTTCATTGAACAGTACACGGGCCATGTGCAACAGCAG
GATCACCATCCATCTCAACAGGGCCAAGGTGGGTTACATGGAATCTACCTGCGGGCCTTCTGCACAGGGCTGGATTCTGTTTTGCAGCCTTATCGCCAAG
CACTGCTTGATTTGGAACAAGAGTTCCTGGGTGATCCCCATCTCTCCATATCACATGTCAACTACTTCCTAGACCAGTTCCAGCTTCTTTTTCCCTCTGT
GATGGTTGTAGTAGAACAAATTAAAAGTCAAAAGATTCATGGTTGTCAAATCCTGGAAACAGTCTACAAACACAGCTGTGGGGGGTTGCCTCCTGTTCGA
AGTGCACTGGAAAAAATCCTGGCCGTTTGTCATGGGGTCATGTATAAACAGCTCTCAGCCTGGATGCTCCATGGACTCCTCTTGGACCAGCATGAAGAAT
TCTTTATCAAACAGGGGCCATCTTCTGGTAATGTCAGTGCCCAGCCAGAAGAGGACGAGGAGGATCTGGGCATTGGGGGACTGACAGGAAAACAACTGAG
AGAACTGCAGGACTTGCGCCTGATTGAGGAAGAGAACATGCTGGCACCATCTCTGAAGCAGTTTTCCCTACGAGTGGAGATTTTGCCATCCTACATTCCA
GTGAGGGTTGCTGAAAAAATCCTATTTGTTGGAGAATCTGTCCAGATGTTTGAGAATCAAAATGTGAACCTGACTAGAAAAGGATCCATTTTGAAAAACC
AGGAAGACACTTTTGCTGCAGAGCTGCACCGTCTCAAGCAGCAGCCACTCTTCAGCTTGGTGGACTTTGAACAGGTGGTGGATCGCATTCGCAGCACTGT
GGCTGAGCATCTCTGGAAGTTGATGGTAGAAGAATCCGATTTACTGGGTCAGCTGAAGATCATTAAAGACTTTTACCTTCTGGGACGTGGAGAACTGTTT
CAGGCCTTCATTGACACAGCTCAACACATGTTGAAAACACCACCCACTGCAGTAACTGAGCATGATGTGAATGTGGCCTTTCAACAGTCAGCACACAAGG
TATTGCTAGATGATGACAACCTTCTCCCTCTGTTGCACTTGACAATCGAGTATCACGGAAAGGAGCACAAAGCAGATGCTACTCAGGCAAGAGAAGGGCC
TTCTCGGGAAACTTCTCCCCGGGAAGCCCCTGCATCTGGCTGGGCAGCCCTAGGTCTTTCCTACAAAGTACAGTGGCCACTACATATTCTCTTCACCCCA
GCTGTCCTGGAAAAGTACAATGTTGTTTTTAAGTACTTACTGAGTGTGCGCCGGGTGCAAGCTGAGCTGCAGCACTGCTGGGCCCTACAAATGCAGCGCA
AGCACCTCAAGTCGAACCAGACTGATGCAATCAAGTGGCGCCTAAGAAATCACATGGCATTTTTGGTGGATAATCTTCAGTACTATCTCCAGGTAGATGT
GTTGGAGTCTCAGTTCTCCCAGCTGCTTCATCAGATCAATTCTACCCGAGACTTTGAAAGCATCCGATTGGCTCATGACCACTTCCTGAGCAATTTGCTG
GCTCAATCCTTTATCCTATTGAAACCTGTGTTTCACTGCCTGAATGAAATCCTAGATCTCTGTCACAGTTTTTGTTCGCTGGTCAGTCAGAACCTAGGCC
CACTGGATGAGCGTGGAGCCGCCCAGCTGAGCATTCTCGTGAAGGGCTTTAGCCGCCAGTCTTCACTCCTGTTCAAGATTCTCTCCAGTGTTCGGAATCA
TCAGATCAACTCAGATTTGGCTCAACTACTGTTACGACTAGATTATAACAAATACTATACCCAGGCTGGTGGAACTCTGGGCAG


Protein Sequence     (SEQ ID NO:439):
MIHELLLALSGYPGSIFTWNKRSGLQVSQDFPFLHPSETSVLNRLCRLGTDYIRFTEFIEQYTGHVQQQDHHPSQQGQGGLHGIYLRAFCTGLDSVLQPY
RQALLDLEQEFLGDPHLSISHVNYFLDQFQLLFPSVMVVVEQIKSQKIHGCQILETVYKHSCGGLPPVRSALEKILAVCHGVMYKQLSAWMLHGLLLDQH
EEFFIKQGPSSGNVSAQPEEDEEDLGIGGLTGKQLRELQDLRLIEEENMLAPSLKQFSLRVEILPSYIPVRVAEKILFVGESVQMFENQNVNLTRKGSIL
KNQEDTFAAELHRLKQQPLFSLVDFEQVVDRIRSTVAEHLWKLMVEESDLLGQLKIIKDFYLLGRGELFQAFIDTAQHMLKTPPTAVTEHDVNVAFQQSA
HKVLLDDDNLLPLLHLTIEYHGKEHKADATQAREGPSRETSPREAPASGWAALGLSYKVQWPLHILFTPAVLEKYNVVFKYLLSVRRVQAELQHCWALQM
QRKHLKSNQTDAIKWRLRNHMAFLVDNLQYYLQVDVLESQFSQLLHQINSTRDFESIRLAHDHFLSNLLAQSFILLKPVFHCLNEILDLCHSFCSLVSQN
LGPLDERGAAQLSILVKGFSRQSSLLFKILSSVRNHQINSDLAQLLLRLDYNKYYTQAGGTLGX



SNP Information


Context              (SEQ ID NO:3669):
ACTTGACAATCGAGTATCACGGAAAGGAGCACAAAGCAGATGCTACTCAGGCAAGAGAAGGGCCTTCTCGGGAAACTTCTCCCCGGGAAGCCCCTGCATC
Y
GGCTGGGCAGCCCTAGGTCTTTCCTACAAAGTACAGTGGCCACTACATATTCTCTTCACCCCAGCTGTCCTGGAAAAGTACAATGTTGTTTTTAAGTACT
Celera SNP ID:                hCV8802624
SNP Position Transcript:      1637
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,30)  african american(C,3|T,27)  total(C,3|T,57)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:439, 448,(S,TCT) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,172|C,12) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:439, 448,(S,TCT) (S,TCC)



Context              (SEQ ID NO:3670):
TGGATCGCATTCGCAGCACTGTGGCTGAGCATCTCTGGAAGTTGATGGTAGAAGAATCCGATTTACTGGGTCAGCTGAAGATCATTAAAGACTTTTACCT
Y
CTGGGACGTGGAGAACTGTTTCAGGCCTTCATTGACACAGCTCAACACATGTTGAAAACACCACCCACTGCAGTAACTGAGCATGATGTGAATGTGGCCT
Celera SNP ID:                hCV25983319
SNP Position Transcript:      1379
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,1|T,29)  total(C,1|T,31)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:439, 362,(L,CTT) (L,CTC)



Context              (SEQ ID NO:3671):
GGGCATTGGGGGACTGACAGGAAAACAACTGAGAGAACTGCAGGACTTGCGCCTGATTGAGGAAGAGAACATGCTGGCACCATCTCTGAAGCAGTTTTCC
S
TACGAGTGGAGATTTTGCCATCCTACATTCCAGTGAGGGTTGCTGAAAAAATCCTATTTGTTGGAGAATCTGTCCAGATGTTTGAGAATCAAAATGTGAA
Celera SNP ID:                hCV31438409
SNP Position Transcript:      1068
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:439, 259,(L,CTA) (V,GTA)



Gene Number:                  72
Celera Gene:                  hCG39709 - 62000133326240
Celera Transcript:            hCT30961 - 62000133326261
Public Transcript Accession:
Celera Protein:               hCP49508 - 197000064936473
Public Protein Accession:
Gene Symbol:                  76P
Protein Name:                  gamma tubulin ring complex protein (76p gene)
Celera Genomic Axis:          GA_x5YUV32W323(10710679..10758589)
Chromosome:                   15
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:179):
GCACCGAGGGCGCATGCGCGAGGGCAGCGACCGCGACTCAGTCTCCGCAGAGCCCGGGCGGGAGTAGCTGGTGGACCCCGTTGAGCTGCCGAACTTCCGG
GACTCCCCCGCGACCCCTTCCCAGCTTCCCGTCCGCTCCGCCGCAGCGATTGTCTCGGTGGGTTGATTCGGCACAAACCGCCCGACCCAGGGGCCGGTGC
GCGTGTGGAAGGGGAAGCACTCCCCTCGTGGTCGCCTGGAGGTGCGCTGGAGGAGGGGGTGACATAACCAGGGACTCGAGGTCCGCCGTGGGAATGATCC
ACGAACTGCTCTTGGCTCTGAGCGGGTACCCTGGGTCCATTTTCACCTGGAACAAGCGGAGTGGCCTGCAGGTATCGCAGGACTTCCCTTTCCTCCACCC
CAGTGAGACCAGTGTCCTGAATCGACTCTGCCGGCTCGGCACAGACTATATTCGCTTCACTGAGTTCATTGAACAGTACACGGGCCATGTGCAACAGCAG
GATCACCATCCATCTCAACAGGGCCAAGGTGGGTTACATGGAATCTACCTGCGGGCCTTCTGCACAGGGCTGGATTCTGTTTTGCAGCCTTATCGCCAAG
CACTGCTTGATTTGGAACAAGAGTTCCTGGGTGATCCCCATCTCTCCATATCACATGTCAACTACTTCCTAGACCAGTTCCAGCTTCTTTTTCCCTCTGT
GATGGTTGTAGTAGAACAAATTAAAAGTCAAAAGATTCATGGTTGTCAAATCCTGGAAACAGTCTACAAACACAGCTGTGGGGGGTTGCCTCCTGTTCGA
AGTGCACTGGAAAAAATCCTGGCCGTTTGTCATGGGGTCATGTATAAACAGCTCTCAGCCTGGATGCTCCATGGACTCCTCTTGGACCAGCATGAAGAAT
TCTTTATCAAACAGGGGCCATCTTCTGGTAATGTCAGTGCCCAGCCAGAAGAGGACGAGGAGGATCTGGGCATTGGGGGACTGACAGGAAAACAACTGAG
AGAACTGCAGGACTTGCGCCTGATTGAGGAAGAGAACATGCTGGCACCATCTCTGAAGCAGTTTTCCCTACGAGTGGAGATTTTGCCATCCTACATTCCA
GTGAGGGTTGCTGAAAAAATCCTATTTGTTGGAGAATCTGTCCAGATGTTTGAGAATCAAAATGTGAACCTGACTAGAAAAGGATCCATTTTGAAAAACC
AGGAAGACACTTTTGCTGCAGAGCTGCACCGTCTCAAGCAGCAGCCACTCTTCAGCTTGGTGGACTTTGAACAGGTGGTGGATCGCATTCGCAGCACTGT
GGCTGAGCATCTCTGGAAGTTGATGGTAGAAGAATCCGATTTACTGGGTCAGCTGAAGATCATTAAAGACTTTTACCTTCTGGGACGTGGAGAACTGTTT
CAGGCCTTCATTGACACAGCTCAACACATGTTGAAAACACCACCCACTGCAGTAACTGAGCATGATGTGAATGTGGCCTTTCAACAGTCAGCACACAAGG
TATTGCTAGATGATGACAACCTTCTCCCTCTGTTGCACTTGACAATCGAGTATCACGGAAAGGAGCACAAAGCAGATGCTACTCAGGCAAGAGAAGGGCC
TTCTCGGGAAACTTCTCCCCGGGAAGCCCCTGCATCTGGCTGGGCAGCCCTAGGTCTTTCCTACAAAGTACAGTGGCCACTACATATTCTCTTCACCCCA
GCTGTCCTGGAAAAGTACAATGTTGTTTTTAAGTACTTACTGAGTGTGCGCCGGGTGCAAGCTGAGCTGCAGCACTGCTGGGCCCTACAAATGCAGCGCA
AGCACCTCAAGTCGAACCAGACTGATGCAATCAAGTGGCGCCTAAGAAATCACATGGCATTTTTGGTGGATAATCTTCAGTACTATCTCCAGGTAGATGT
GTTGGAGTCTCAGTTCTCCCAGCTGCTTCATCAGATCAATTCTACCCGAGACTTTGAAAGCATCCGATTGGCTCATGACCACTTCCTGAGCAATTTGCTG
GCTCAATCCTTTATCCTATTGAAACCTGTGTTTCACTGCCTGAATGAAATCCTAGATCTCTGTCACAGTTTTTGTTCGCTGGTCAGTCAGAACCTAGGCC
CACTGGATGAGCGTGGAGCCGCCCAGCTGAGCATTCTCGTGAAGGGCTTTAGCCGCCAGTCTTCACTCCTGTTCAAGATTCTCTCCAGTGTTCGGAATCA
TCAGATCAACTCAGATTTGGCTCAACTACTGTTACGACTAGATTATAACAAATACTATACCCAGGCTGGTGGAACTCTGGGCAGTTTCGGGATGTGAAAA
TTTCTGGCTCATAAATTGAAATAACAGCCACGTTCCCAAGGTTGTAACAGAAGATTCAAAACATCCCATTCTAGCCACACACAAATAAATATCTGCGGCT
TAGTGATAGGACTCTACCTTTTCTCCTAGAAGCAGTTACTGAACATCCAGGAGTACAACTCCTTCCCATCATTCCCATGTGGAAGGGTCTCTCCCATCAA
GGAGAACATGTGGCATCTCTGATCCTTTACATTGAGAACATTTGTTGGATATGTTCATTTATTCAATAGTCATTTATTGAGCACCTACTACGTACCTTGG
TACTGTTCAAGCTGTGGGAGATACAGCGGTAAACAAACAATATAGAGCAGAAAGTTAAATATTTTATGGTTCATATGTGAAAAAGTAATTATGTTTATAA
ATAGACTAACTGCTGGATGTTACCACCAAGTAAGAAAGCAACAGGTAAGATAGGCTTTCTCTCTCCCTATACCAAGTAATTTATACCTACACAGATTGGG
CAATTCTAGCTAATGAAAATATACTTAAAAGTATTTCTTAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA
TCACCTGAAGTCAGGAGTTTGAGACCAGCCTGACCAACATGATGAAACCTCGATTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTG
TAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAAGCAGACGCTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCCCGGG
CAACAAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTATTATTCTCCAAGAAAAAGGTCCTTAAGAAAAAATTGAGATCAAGTTGTTAG
ATTTTTAAATACTGAAGATTGCAGGCCCAATTACCCATCTTACACAAACCATAGGGGTTGAAGTTATCTTAATATGGCCCAGCCATCACTGGTAATCAAT
ATTCATATCAGTGTAAGTAAAAAGAAATATTCACTGAACAACGCCCTCCAAACTGAAAAAGAATGCAGTGTTCTGGCATCAGGTTATAGTCACTGCATCT
GGTTTTCATCACTACATATTCTACACACACTGGGAAGCTCTGACAACTTATTCCCTGCTATTATCAACTAAAGATCACCCTTTCCACTGCTGTCTCTGGA
GCAGGAGCTGGCAAACTATGGCCTGCTGTCTGTTTTTGTACAGTTTTACTGAAACACAGCCGTGCCCATTTGTTTACTCATTGTCTATGGTTGCTTTCAT
GCCCTCACAGCAAAGGCGAGTAGTTGTGATGGATCAAATGGCCCACAAAGCCTGAAATATTTACTCTTTGACCCTTTACAGAAAAAAACCTTGTTGACCC
CTGCTTTAGAGAATGAGAAGCCATGCAGGGATCAGTGATGCCAGAGGAAGGGAAGGAACTGCTTCCAGCTATTGTGACAATAATAATAATAATAATATTG
GGTCTTTGACTAGAACGTGTAACATTTCCAGGTGTTCTCACTTGTGCTTCCCATGTTTATCTTACGGAAGGTCATTCCATCAAGCTTATGGTCACTGTCC
CTTCATGGCAGTTGGTCCTTTCGTTCTCCCTTTAGCTCTAAGAGTTGGGGAGTACCCACAGGTGAGCTGTGATCTCAGCTCAGAGAGAGAGCATGAGGTC
TTTTTTAACTGTCAGGAAACAGAGCTGTGCCCAATTCCACTCAACTTTTGGCAC


Protein Sequence     (SEQ ID NO:440):
MIHELLLALSGYPGSIFTWNKRSGLQVSQDFPFLHPSETSVLNRLCRLGTDYIRFTEFIEQYTGHVQQQDHHPSQQGQGGLHGIYLRAFCTGLDSVLQPY
RQALLDLEQEFLGDPHLSISHVNYFLDQFQLLFPSVMVVVEQIKSQKIHGCQILETVYKHSCGGLPPVRSALEKILAVCHGVMYKQLSAWMLHGLLLDQH
EEFFIKQGPSSGNVSAQPEEDEEDLGIGGLTGKQLRELQDLRLIEEENMLAPSLKQFSLRVEILPSYIPVRVAEKILFVGESVQMFENQNVNLTRKGSIL
KNQEDTFAAELHRLKQQPLFSLVDFEQVVDRIRSTVAEHLWKLMVEESDLLGQLKIIKDFYLLGRGELFQAFIDTAQHMLKTPPTAVTEHDVNVAFQQSA
HKVLLDDDNLLPLLHLTIEYHGKEHKADATQAREGPSRETSPREAPASGWAALGLSYKVQWPLHILFTPAVLEKYNVVFKYLLSVRRVQAELQHCWALQM
QRKHLKSNQTDAIKWRLRNHMAFLVDNLQYYLQVDVLESQFSQLLHQINSTRDFESIRLAHDHFLSNLLAQSFILLKPVFHCLNEILDLCHSFCSLVSQN
LGPLDERGAAQLSILVKGFSRQSSLLFKILSSVRNHQINSDLAQLLLRLDYNKYYTQAGGTLGSFGM*



SNP Information


Context              (SEQ ID NO:3672):
ACTTGACAATCGAGTATCACGGAAAGGAGCACAAAGCAGATGCTACTCAGGCAAGAGAAGGGCCTTCTCGGGAAACTTCTCCCCGGGAAGCCCCTGCATC
Y
GGCTGGGCAGCCCTAGGTCTTTCCTACAAAGTACAGTGGCCACTACATATTCTCTTCACCCCAGCTGTCCTGGAAAAGTACAATGTTGTTTTTAAGTACT
Celera SNP ID:                hCV8802624
SNP Position Transcript:      1637
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,30)  african american(C,3|T,27)  total(C,3|T,57)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:440, 448,(S,TCT) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,172|C,12) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:440, 448,(S,TCT) (S,TCC)



Context              (SEQ ID NO:3673):
TGGATCGCATTCGCAGCACTGTGGCTGAGCATCTCTGGAAGTTGATGGTAGAAGAATCCGATTTACTGGGTCAGCTGAAGATCATTAAAGACTTTTACCT
Y
CTGGGACGTGGAGAACTGTTTCAGGCCTTCATTGACACAGCTCAACACATGTTGAAAACACCACCCACTGCAGTAACTGAGCATGATGTGAATGTGGCCT
Celera SNP ID:                hCV25983319
SNP Position Transcript:      1379
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,2)  african american(C,1|T,29)  total(C,1|T,31)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:440, 362,(L,CTT) (L,CTC)



Context              (SEQ ID NO:3674):
GGGCATTGGGGGACTGACAGGAAAACAACTGAGAGAACTGCAGGACTTGCGCCTGATTGAGGAAGAGAACATGCTGGCACCATCTCTGAAGCAGTTTTCC
S
TACGAGTGGAGATTTTGCCATCCTACATTCCAGTGAGGGTTGCTGAAAAAATCCTATTTGTTGGAGAATCTGTCCAGATGTTTGAGAATCAAAATGTGAA
Celera SNP ID:                hCV31438409
SNP Position Transcript:      1068
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,118)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:440, 259,(L,CTA) (V,GTA)



Context              (SEQ ID NO:3675):
TATAACAAATACTATACCCAGGCTGGTGGAACTCTGGGCAGTTTCGGGATGTGAAAATTTCTGGCTCATAAATTGAAATAACAGCCACGTTCCCAAGGTT
R
TAACAGAAGATTCAAAACATCCCATTCTAGCCACACACAAATAAATATCTGCGGCTTAGTGATAGGACTCTACCTTTTCTCCTAGAAGCAGTTACTGAAC
Celera SNP ID:                hCV27475523
SNP Position Transcript:      2344
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1474|A,22) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:440, None



Context              (SEQ ID NO:3676):
CCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAAGCAGACGCTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCC
Y
GGGCAACAAGAGCGAAATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGTATTATTCTCCAAGAAAAAGGTCCTTAAGAAAAAATTGAGATCAAGTTGT
Celera SNP ID:                hCV1360751
SNP Position Transcript:      3097
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,8|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:440, None



Context              (SEQ ID NO:3677):
TATAGTCACTGCATCTGGTTTTCATCACTACATATTCTACACACACTGGGAAGCTCTGACAACTTATTCCCTGCTATTATCAACTAAAGATCACCCTTTC
Y
ACTGCTGTCTCTGGAGCAGGAGCTGGCAAACTATGGCCTGCTGTCTGTTTTTGTACAGTTTTACTGAAACACAGCCGTGCCCATTTGTTTACTCATTGTC
Celera SNP ID:                hCV1360753
SNP Position Transcript:      3485
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,4|C,3) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:440, None



Context              (SEQ ID NO:3678):
TATCAACTAAAGATCACCCTTTCCACTGCTGTCTCTGGAGCAGGAGCTGGCAAACTATGGCCTGCTGTCTGTTTTTGTACAGTTTTACTGAAACACAGCC
R
TGCCCATTTGTTTACTCATTGTCTATGGTTGCTTTCATGCCCTCACAGCAAAGGCGAGTAGTTGTGATGGATCAAATGGCCCACAAAGCCTGAAATATTT
Celera SNP ID:                hCV1360754
SNP Position Transcript:      3562
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3|A,2) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:440, None



Gene Number:                  73
Celera Gene:                  hCG39710 - 62000133324146
Celera Transcript:            hCT1828441 - 62000133324167
Public Transcript Accession:
Celera Protein:               hCP1704493 - 197000064936468
Public Protein Accession:
Gene Symbol:                  MAP1A
Protein Name:                  microtubule-associated protein 1A
Celera Genomic Axis:          GA_x5YUV32W323(10850669..10883250)
Chromosome:                   15
OMIM NUMBER:                  600178
OMIM Information:


Transcript Sequence  (SEQ ID NO:180):
ATGGAGACAACTCCGGGGCTGGGGCTCCGAAGTCCCGGCGCACCGCTGGCTCAGAACCCCGCGGAGCTGCTGTGCGAGGCCGGAGCCGCGGTGGCGGCTG
CACGCTGGGACCTGCAGAAGCACTCTTTGCTAATTGTGATCGGCGATATCGGTACAGAGAGTCAGCTGAGGGCCGTGCGGGCCCACCTTGAACAAGGGAT
TCTCTCCTGGAACATTGACCTGTCATCCTTTGACTTGAACCAACAGTTGAGACTCTTCATTACCCGGCACCTAGCTCACTTCTCCTCAGAGGTCAAAGGC
CAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCTTAGCA
GCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTTTGC
CCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATTGG
AGCCACCTGGGATTATCCAGTTCCCAAGAGACCCTGCACCTCCGGCTAAACCCTGAGCCCACTCTGCCCACCATGGACGGCGTGGCTGAGTTCTCCGAGT
ATGTCTCTGAGACTGTGGACGTGCCATCCCCATTTGACCTACTAGAGCCCCCCACCTCAGGGGGCTTCCTCAAGCTCTCCAAGCCTTGTTGCTACATCTT
CCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTTTTGGAAGCTGGTA
CGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAGTGGCAGAGCTAG
AGGAGGAGCAGTCCCAGGGCTCTAGCAGTTACAGCGACTGGGTGAAGAACCTTATCTCTCCTGAGCTTGGAGTTGTCTTTTTCAACGTGCCTGAGAAGCT
GCGGCTTCCTGATGCCTCCCGGAAAGCCAAGCGTAGCATTGAGGAGGCCTGCCTCACTCTGCAGCACTTAAACCGCCTGGGCATCCAGGCTGAGCCTCTA
TATCGTGTGGTCAGCAATACCATTGAGCCACTGACCCTCTTCCACAAAATGGGTGTGGGCCGGCTGGACATGTATGTCCTCAACCCTGTCAAGGACAGCA
AGGAGATGCAGTTCCTCATGCAAAAGTGGGCAGGCAATAGTAAAGCCAAGACAGGCATCGTGCTGCCCAATGGGAAGGAGGCTGAGATCTCCGTGCCCTA
CCTTACCTCTATCACTGCTCTGGTGGTCTGGCTACCAGCCAATCCCACTGAGAAGATTGTGCGTGTGCTTTTTCCAGGAAATGCTCCCCAAAACAAGATC
TTGGAGGGCCTAGAAAAGCTTCGGCATCTGGACTTCCTGCGTTACCCTGTGGCCACGCAGAAGGACCTGGCTTCTGGGGCTGTGCCTACCAACCTCAAGC
CCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGA
GGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAG
CCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAAAGACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATAT
CAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCAAGAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGC
CAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTAT
AAAGCCAAGGTCCCTGGAAGAGTCAAAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGG
GAACTGTACCACTCCCAACCATCAGTGGGCACAGGGAGCTGGTCCTATCCTCACCAGAGGACCTCACACAGGACTTTGAGGAGATGAAGCGTGAGGAGAG
GGCTTTGCTGGCTGAACAAAGGGACACAGGACTAGGAGATAAGCCATTCCCTCTAGACACTGCAGAGGAGGGACCCCCAAGTACAGCTATCCAGGGAACA
CCACCCTCTGTTCCAGGGCTGGGACAAGAAGAACATGTGATGAAGGAGAAAGAGCTTGTCCCAGAGGTCCCTGAGGAACAAGGCAGCAAGGACAGAGGCC
TAGACTCTGGGGCTGAAACAGAGGAAGAGAAAGATACCTGGGAGGAAAAGAAGCAGAGGGAAGCAGAGAGGCTCCCAGACAGAACAGAAGCCAGAGAGGA
AAGTGAACCTGAAGTAAAGGAGGATGTGATAGAAAAGGCTGAGTTAGAAGAAATGGAGGAGGTACACCCTTCAGATGAGGAGGAAGAGGACGCGACAAAA
GCTGAGGGTTTTTACCAAAAACATATGCAGGAACCCTTGAAGGTAACTCCAAGGAGCCGGGAGGCTTTTGGGGGTCGGGAATTGGGACTCCAGGGCAAGG
CCCCTGAGAAGGAGACCTCGTTATTCCTAAGCAGCCTGACCACACCTGCAGGAGCCACTGAGCATGTCTCTTACATCCAGGATGAGACAATCCCTGGCTA
CTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCCC
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
CCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCCACTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCAC
ATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGGCAAGAGCTCCCTGCTGCTTGACACAGTCACAAGCATCCCT
TCCTCCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCAC
CACCCTGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGA
GGAGACAGCAAACGTAGAGATGTCTGAGAAACTTTGCAGTCAATATGGAACTCCAGTGTTTAGTGCCCCTGGGCATGCCCTACATCCAGGAGAACCAGCC
CTTGGAGAAGCAGAGGAGCGGTGCCTTAGCCCAGATGACAGCACAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCT
TTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTCAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGA
TGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCT
GTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAG
GCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGATGAGGTGCTCAGATATCCTGACCG
AAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTG
ACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCC
TGGATGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGC
CGAGGATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAG
ACAGACATCACAGATGACAGCCTTGACAGGAAGTCACCTGCCAGCTCATTCTCTCACTCTACACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCA
CAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTGCCAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGA
AGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGATGAAGTTTTACAGCAGAAAGACAAAACTCTGGAGCAC
AAGGAGGTGGTAGAGCCGAAGGATACAGCCATCTATCAGAAAGATGAGGCTCTGCATGTAAAGAATGAGGCTGTGAAACAGCAGGATAAGGCTTTAGAAC
AAAAGGGCAGAGACTTAGAGCAAAAAGACACAGCCCTAGAACAGAAGGACAAGGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCT
GGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAA
GACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGTCAGAAGTGTTGAACATAAGG
CTCCGGAGGACACGGTCGCTGAAATGAAGGACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGT
CTCAGAAAAGAAGGATCAGGCCTTAGAACAAAAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCAC
CAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGA
AGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGG
GCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCT
GAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTC
ACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCG
GGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGAAGGGGCTAGAGGTGGAGCGCTGGCTTGCTGAATCA
CCAGTTGGGTTGCCACCAGAGGAAGAGGACAAACTGACCCGCTCTCCCTTTGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGG
TTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATGCCACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCC
ACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTC
TCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACC
GCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCAC
CACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATGAGCAGATGATGCTT
ACTGGGCTTGGCCCTGCATGCCCCACTAGAGAGCCTCCACTTGGAGCAGCTGGGGATTGGCCCCCATGCCTCTCAACCAAGGAGGCAGCTGCCGGCCGAA
ACACATCTGCAGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGT
ACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCT
CTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAAC
TGGAGAAGGGGGCTCGGGAACAGCCAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGA
GGCACATGTTAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCT
CCCCCACAGCTGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCA
CCAGAACCCGGCATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCT
CCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGCGGAGCGCTTCTCT
CCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCAC
CCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGC
CACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAG
GCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACACATTGCTCTCCCCTG
AGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCCACTGAGCCTCGGCC
CCATCGTGGGGAGCTCTCCCCATCCTTCCTGAACCCACCTCTGCCCCCATCCATAGATGATAGGGACCTCTCAACTGAGGAAGTTCGGCTAGTAGGAAGA
GGGGGGCGGCGCCGGGTAGGGGGGCCAGGGACCACTGGGGGCCCATGCCCTGTGACTGATGAGACACCCCCTACATCAGCCAGTGACTCAGGCTCCTCAC
AGTCAGATTCTGATGTCCCGCCAGAAACTGAGGAGTGTCCGTCCATCACAGCTGAGGCAGCCCTCGACTCAGATGAAGATGGAGACTTCCTACCTGTGGA
CAAAGCTGGGGGTGTCAGTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGAT
GTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCC
CAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGC
CCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCA
GGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCTTG
ACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGGG
CAAGGCCCAGTGGGGGGAGAATCTTCAGGTGACTCTGATCCCTACTCATGACACGGAGGTGACTCGTGAGTGGTACCAACAAACTCATGAGCAGCAGCAA
CAACTGAATGTCCTGGTCCTGGCTAGCAGCAGCACCGTGGTGATGCAGGATGAGTCCTTCCCTGCCTGCAAGATTGAGTTCTGAAAGAGCCGCCCTCCCT
TCCCCAAGGATCCACTCCCCCAGCTCCTTTAGAGAATGGCTACTGCTGAGTCCTTTGGGGTTGAGGGAGATGGGAGCTAGGGGGAGGGGAGGGAGATGTC
TTGTTGTGGGGACTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATG
GGGGAGGGGACAAATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTC
AGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGAAGGATTTCCAA
TAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAACCACCAGGGT
CTGAGTTCTAGCAGGGTCCTGGGGGTATCCCACTGCTATACTGTTCTACTGCTTCCCTCAGTATCTGAATGTCTCAATTTAAAACTTGAAGCTCTTTAGA
CCAATAGACTGGTGAGAGGAGAAAGGAGCTTATCCCCCAGACCCTGCTTTATACCATTCACATCCCAGGGCTGTGTCCAGACAGCACAAAACGGCAAGGA
GAGCCCAAGCCCCAATGCCAGAATTCTTCCAAACTCCCTGACTCTTTGAAGTTTTTACTCACCCCATTTCAATTATCCTGATCCCTTCTCATCCCCTGCT
TGGCTTCTCTGCATGTGGTCATCTGCTGTGGCTTGGTGTTTAATGGGTTAAAAATAAGCCACTGCCTGACATCCCAACATTTGACACCCCAGCAATGTGT
GACTCCCCCAACATTCCACTATGCCATCCTGCAGCTGAAATGGGAACACTGGCTGCCTCTCCAAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGC
CAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAGCTTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAA
TACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCCAGACTGAGAAACCCAGAAGCTGGTAGTCATGTGGGCT
TGCCTTCTCTGCCAAACGACTGGGAAACCAAAATGAGCCCACCTTGTGTTCTTCCTAGCTCCACCCTCCCCGTGCTGCTGTGTTCTGCTCCTCCCCACGC
TTCCCTGCTATAGTTCCCAGCTGCTGTAACGGAGCCACCTCCAACTCTAACAATAAACCAAGTTCATTGCA


Protein Sequence     (SEQ ID NO:441):
METTPGLGLRSPGAPLAQNPAELLCEAGAAVAAARWDLQKHSLLIVIGDIGTESQLRAVRAHLEQGILSWNIDLSSFDLNQQLRLFITRHLAHFSSEVKG
QRTLCHQSEILETIILVNPSADSISSEVHHLLSSSSAYKLLILSGQSLEPGGDLILQSGTYSYENFAQVLHNPEISQLLSNRDPGIQAFLTVSCLGEGDW
SHLGLSSSQETLHLRLNPEPTLPTMDGVAEFSEYVSETVDVPSPFDLLEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNILVDGGSDRKSCFWKLV
RHLDRIDSVLLTHIGADNLPGINGLLQRKVAELEEEQSQGSSSYSDWVKNLISPELGVVFFNVPEKLRLPDASRKAKRSIEEACLTLQHLNRLGIQAEPL
YRVVSNTIEPLTLFHKMGVGRLDMYVLNPVKDSKEMQFLMQKWAGNSKAKTGIVLPNGKEAEISVPYLTSITALVVWLPANPTEKIVRVLFPGNAPQNKI
LEGLEKLRHLDFLRYPVATQKDLASGAVPTNLKPSKIKQRADSKESLKATTKTAVSKLAKREEVVEEGAKEARSELAKELAKTEKKAKESSEKPPEKPAK
PERVKTESSEALKAEKRKLIKDKVGKKHLKEKISKLEEKKDKEKKEIKKERKELKKDEGRKEEKKDAKKEEKRKDTKPELKKISKPDLKPFTPEVRKTLY
KAKVPGRVKIDRSRAIRGEKELSSEPQTPPAQKGTVPLPTISGHRELVLSSPEDLTQDFEEMKREERALLAEQRDTGLGDKPFPLDTAEEGPPSTAIQGT
PPSVPGLGQEEHVMKEKELVPEVPEEQGSKDRGLDSGAETEEEKDTWEEKKQREAERLPDRTEAREESEPEVKEDVIEKAELEEMEEVHPSDEEEEDATK
AEGFYQKHMQEPLKVTPRSREAFGGRELGLQGKAPEKETSLFLSSLTTPAGATEHVSYIQDETIPGYSETEQTISDEEIHDEPEERPAPPRFHTSTYDLP
GPEGAGPFEASQPADSAVPATSGKVYGTPETELTYPTNIVAAPLAEEEHVSSATSITECDKLSSFATSVAEDQSVASLTAPQTEETGKSSLLLDTVTSIP
SSRTEATQGLDYVPSAGTISPTSSLEEDKGFKSPPCEDFSVTGESEKRGEIIGKGLSGERAVEEEEEETANVEMSEKLCSQYGTPVFSAPGHALHPGEPA
LGEAEERCLSPDDSTVKMASPPPSGPPSATHTPFHQSPVEEKSEPQDFQEADSWGDTKRTPGVGKEDAAEETVKPGPEEGTLEKEEKVPPPRSPQAQEAP
VNIDEGLTGCTIQLLPAQDKAIVFEIMEAGEPTGPILGAEALPGGLRTLPQEPGKPQKDEVLRYPDRSLSPEDAESLSVLSVPSPDTANQEPTPKSPCGL
TEQYLHKDRWPEVSPEDTQSLSLSEESPSKETSLDVSSKQLSPESLGTLQFGELNLGKEEMGHLMQAEDTSHHTAPMSVPEPHAATASPPTDGTTRYSAQ
TDITDDSLDRKSPASSFSHSTPSGNGKYLPGAITSPDEHILTPDSSFSKSPESLPGPALEDIAIKWEDKVPGLKDRTSEQKKEPEPKDEVLQQKDKTLEH
KEVVEPKDTAIYQKDEALHVKNEAVKQQDKALEQKGRDLEQKDTALEQKDKALEPKDKDLEEKDKALEQKDKIPEEKDKALEQKDTALEQKDKALEPKDK
DLEQKDRVLEQKEKIPEEKDKALDQKVRSVEHKAPEDTVAEMKDRDLEQTDKAPEQKHQAQEQKDKVSEKKDQALEQKYWALGQKDEALEQNIQALEENH
QTQEQESLVQEDKTRKPKMLEEKSPEKVKAMEEKLEALLEKTKALGLEESLVQEGRAREQEEKYWRGQDVVQEWQETSPTREEPAGEQKELAPAWEDTSP
EQDNRYWRGREDVALEQDTYWRELSCERKVWFPHELDGQGARPHYTEERESTFLDEGPDDEQEVPLREHATRSPWASDFKDFQESSPQKGLEVERWLAES
PVGLPPEEEDKLTRSPFEIISPPASPPEMVGQRVPSAPGQESPIPDPKLMPHMKNEPTTPSWLADIPPWVPKDRPLPPAPLSPAPGPPTPAPESHTPAPF
SWGTAEYDSVVAAVQEGAAELEGGPYSPLGKDYRKAEGEREEEGRAEAPDKSSHSSKVPEASKSHATTEPEQTEPEQREPTPYPDERSFQYADIYEQMML
TGLGPACPTREPPLGAAGDWPPCLSTKEAAAGRNTSAEKELSSPISPKSLQSDTPTFSYAALAGPTVPPRPEPGPSMEPSLTPPAVPPRAPILSKGPSPP
LNGNILSCSPDRRSPSPKESGRSHWDDSTSDSELEKGAREQPEKEAQSPSPPHPIPMGSPTLWPETEAHVSPPLDSHLGPARPSLDFPASAFGFSSLQPA
PPQLPSPAEPRSAPCGSLAFSGDRALALAPGPPTRTRHDEYLEVTKAPSLDSSLPQLPSPSSPGAPLLSNLPRPASPALSEGSSSEATTPVISSVAERFS
PSLEAAEQESGELDPGMEPAAHSLWDLTPLSPAPPASLDLALAPAPSLPGDMGDGILPCHLECSEAATEKPSPFQVPSEDCAANGPTETSPNPPGPAPAK
AENEEAAACPAWERGAWPEGAERSSRPDTLLSPEQPVCPAGGSGGPPSSASPEVEAGPQGCATEPRPHRGELSPSFLNPPLPPSIDDRDLSTEEVRLVGR
GGRRRVGGPGTTGGPCPVTDETPPTSASDSGSSQSDSDVPPETEECPSITAEAALDSDEDGDFLPVDKAGGVSGTHHPRPGHDPPPLPQPDPRPSPPRPD
VCMADPEGLSSESGRVERLREKEKVQGRVGRRAPGKAKPASPARRLDLRGKRSPTPGKGPADRASRAPPRPRSTTSQVTPAEEKDGHSPMSKGLVNGLKA
GPMALSSKGSSGAPVYVDLAYIPNHCSGKTADLDFFRRVRASYYVVSGNDPANGEPSRAVLDALLEGKAQWGENLQVTLIPTHDTEVTREWYQQTHEQQQ
QLNVLVLASSSTVVMQDESFPACKIEF*



SNP Information


Context              (SEQ ID NO:3679):
CCTCAGAGGTCAAAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGT
W
CATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACT
Celera SNP ID:                hCV16139228
SNP Position Transcript:      384
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 128,(V,GTT) (V,GTA)



Context              (SEQ ID NO:3680):
TGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAA
S
GCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAA
Celera SNP ID:                hCV16259588
SNP Position Transcript:      5487
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1829,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3681):
GGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCT
S
TGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATC
Celera SNP ID:                hCV25749830
SNP Position Transcript:      5533
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1845,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3682):
TCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACC
R
TTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCT
Celera SNP ID:                hCV27486001
SNP Position Transcript:      4226
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1409,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3683):
GCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCA
M
ACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAG
Celera SNP ID:                hCV8794965
SNP Position Transcript:      1679
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 560,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3684):
ATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCT
Y
CCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAA
Celera SNP ID:                hCV25754152
SNP Position Transcript:      4189
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1397,(P,CCC) (S,TCC)



Context              (SEQ ID NO:3685):
GGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGG
Y
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
Celera SNP ID:                hCV16017461
SNP Position Transcript:      8578
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2860,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3686):
GCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCA
R
CATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCA
Celera SNP ID:                hCV29187601
SNP Position Transcript:      3905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1302,(N,AAC) (S,AGC)



Context              (SEQ ID NO:3687):
CCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACA
Y
ATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCC
Celera SNP ID:                hCV29187604
SNP Position Transcript:      7886
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2629,(T,ACA) (I,ATA)



Context              (SEQ ID NO:3688):
GTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCC
Y
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Celera SNP ID:                hCV27490911
SNP Position Transcript:      8418
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,118|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2806,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3689):
ACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTG
M
CAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGA
Celera SNP ID:                hCV8794974
SNP Position Transcript:      4663
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1555,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3690):
AGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTT
R
CCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAG
Celera SNP ID:                hCV8794976
SNP Position Transcript:      5674
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1892,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3691):
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
R
GAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGG
Celera SNP ID:                hCV8794986
SNP Position Transcript:      5841
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1947,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3692):
TAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAG
M
TGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCG
Celera SNP ID:                hCV8794994
SNP Position Transcript:      7210
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2404,(L,CTG) (M,ATG)



Context              (SEQ ID NO:3693):
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
Y
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
Celera SNP ID:                hCV25760192
SNP Position Transcript:      3000
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,5)  african american(C,30|T,2)  total(C,45|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1000,(P,CCC) (P,CCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|T,9)  african american(C,34|T,2)  total(C,65|T,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1000,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,26|T,8) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1000,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3694):
ACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACA
M
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
Celera SNP ID:                hCV16259604
SNP Position Transcript:      5331
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1777,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:3695):
GCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCG
Y
AGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCAT
Celera SNP ID:                hCV26634551
SNP Position Transcript:      8493
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2831,(R,CGC) (R,CGT)



Context              (SEQ ID NO:3696):
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Y
GTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGC
Celera SNP ID:                hCV26634554
SNP Position Transcript:      8519
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2840,(A,GCG) (V,GTG)



Context              (SEQ ID NO:3697):
AGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATG
K
CCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACC
Celera SNP ID:                hCV8794982
SNP Position Transcript:      5813
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1938,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3698):
TCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGT
R
CAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGG
Celera SNP ID:                hCV8794987
SNP Position Transcript:      6342
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2114,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3699):
CCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCG
K
TGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTC
Celera SNP ID:                hCV16259587
SNP Position Transcript:      4227
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1409,(R,CGT) (R,CGG)



Context              (SEQ ID NO:3700):
AAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGC
Y
TAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCC
Celera SNP ID:                hCV26634549
SNP Position Transcript:      5551
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1851,(L,CTA) (L,TTA)



Context              (SEQ ID NO:3701):
CCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGG
M
ATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATAC
Celera SNP ID:                hCV26634550
SNP Position Transcript:      6278
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2093,(E,GAA) (A,GCA)



Context              (SEQ ID NO:3702):
TCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGG
R
CTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAG
Celera SNP ID:                hCV3014559
SNP Position Transcript:      3918
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,26|A,16) ; no_pop(G,-|A,-) ; no_pop(G,16
4|A,76)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1306,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3703):
CAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTA
K
CCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGC
Celera SNP ID:                hCV8794967
SNP Position Transcript:      1741
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 581,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3704):
GCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTG
S
AGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTG
Celera SNP ID:                hCV8795005
SNP Position Transcript:      8778
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2926,(C,TGC) (W,TGG)



Context              (SEQ ID NO:3705):
CGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCA
M
AAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAA
Celera SNP ID:                hCV16256715
SNP Position Transcript:      1762
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 588,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3706):
CAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTT
Y
CAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACAC
Celera SNP ID:                hCV16259595
SNP Position Transcript:      3744
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1248,(F,TTT) (F,TTC)



Context              (SEQ ID NO:3707):
AGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTT
M
AGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACT
Celera SNP ID:                hCV12075424
SNP Position Transcript:      3745
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1249,(Q,CAG) (K,AAG)



Context              (SEQ ID NO:3708):
TTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCC
Y
CTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCT
Celera SNP ID:                hCV25755903
SNP Position Transcript:      7718
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,2)  african american(C,33|T,1)  total(C,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2573,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3709):
TACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCC
R
CTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGG
Celera SNP ID:                hCV27503543
SNP Position Transcript:      3160
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1054,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3710):
GCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGG
Y
AAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCAC
Celera SNP ID:                hCV26634552
SNP Position Transcript:      8505
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2835,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3711):
CAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTG
K
CCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGA
Celera SNP ID:                hCV8794966
SNP Position Transcript:      1729
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 577,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3712):
AGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTG
K
CAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGA
Celera SNP ID:                hCV8794975
SNP Position Transcript:      5622
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1874,(W,TGG) (C,TGT)



Context              (SEQ ID NO:3713):
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
W
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
Celera SNP ID:                hCV8795006
SNP Position Transcript:      8799
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2933,(L,CTT) (L,CTA)



Context              (SEQ ID NO:3714):
AAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCT
K
AGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACT
Celera SNP ID:                hCV16259592
SNP Position Transcript:      396
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 132,(L,CTT) (L,CTG)



Context              (SEQ ID NO:3715):
GCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTT
K
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
Celera SNP ID:                hCV16259593
SNP Position Transcript:      498
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 166,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3716):
GACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCA
R
GAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTA
Celera SNP ID:                hCV25750075
SNP Position Transcript:      1964
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,32|G,0)  total(A,71|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 655,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3717):
CTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGC
R
GAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTC
Celera SNP ID:                hCV25757513
SNP Position Transcript:      7488
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,34)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2496,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3718):
GCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGG
M
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Celera SNP ID:                hCV26634553
SNP Position Transcript:      8510
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2837,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3719):
CAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTG
K
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
Celera SNP ID:                hCV8794981
SNP Position Transcript:      5740
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|G,4)  african american(C,2|G,30)  total(C,12|G,34)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1914,(A,GCC) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,184) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1914,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3720):
AGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGG
M
CAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAA
Celera SNP ID:                hCV8794988
SNP Position Transcript:      6811
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2271,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3721):
GCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGG
Y
ATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCT
Celera SNP ID:                hCV8794995
SNP Position Transcript:      7312
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2438,(H,CAT) (Y,TAT)



Context              (SEQ ID NO:3722):
GTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTT
K
TGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAG
Celera SNP ID:                hCV16259562
SNP Position Transcript:      888
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 296,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3723):
TGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAG
R
ATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGA
Celera SNP ID:                hCV11755243
SNP Position Transcript:      4405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,1|G,33)  total(A,9|G,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1469,(D,GAT) (N,AAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1469,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3724):
TCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGA
Y
ACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACA
Celera SNP ID:                hCV11755244
SNP Position Transcript:      4407
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,1902|C,1282) ; no_pop(T,20|C,14) ; no_pop(T,-|C,-) ; no_pop(T
,162|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1469,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3725):
TGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATG
S
CACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGC
Celera SNP ID:                hCV16171915
SNP Position Transcript:      6151
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,6|C,234
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2051,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3726):
CAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACA
S
CCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGG
Celera SNP ID:                hCV12075429
SNP Position Transcript:      6313
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2105,(A,GCC) (P,CCC)



Context              (SEQ ID NO:3727):
TGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAG
S
AAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATG
Celera SNP ID:                hCV16259606
SNP Position Transcript:      6486
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2162,(S,AGC) (R,AGG)



Context              (SEQ ID NO:3728):
CGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAG
Y
ATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGA
Celera SNP ID:                hCV16017472
SNP Position Transcript:      8591
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2864,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3729):
CCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACC
M
TGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGA
Celera SNP ID:                hCV25758645
SNP Position Transcript:      3405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,32)  african american(A,1|C,29)  total(A,1|C,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1135,(P,CCC) (P,CCA)



Context              (SEQ ID NO:3730):
GTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGG
M
CAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTG
Celera SNP ID:                hCV25753227
SNP Position Transcript:      5708
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,11)  african american(A,30|C,0)  total(A,33|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1903,(D,GAC) (A,GCC)



Context              (SEQ ID NO:3731):
GGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGA
K
GAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGA
Celera SNP ID:                hCV25759354
SNP Position Transcript:      5865
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,30)  african american(G,1|T,33)  total(G,1|T,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1955,(D,GAT) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,40)  african american(G,1|T,35)  total(G,1|T,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1955,(D,GAT) (E,GAG)



Context              (SEQ ID NO:3732):
AGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGA
Y
TATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGAT
Celera SNP ID:                hCV29187602
SNP Position Transcript:      3977
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1326,(I,ATT) (T,ACT)



Context              (SEQ ID NO:3733):
GAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAG
W
CATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAAT
Celera SNP ID:                hCV29187603
SNP Position Transcript:      7652
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2551,(D,GAC) (V,GTC)



Context              (SEQ ID NO:3734):
CCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAAT
M
GGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGG
Celera SNP ID:                hCV8794980
SNP Position Transcript:      5713
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 1905,(R,AGG) (R,CGG)



Context              (SEQ ID NO:3735):
CCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAG
M
CTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGT
Celera SNP ID:                hCV8794993
SNP Position Transcript:      6840
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2280,(S,AGC) (R,AGA)



Context              (SEQ ID NO:3736):
TACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTC
M
AAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAG
Celera SNP ID:                hCV16259594
SNP Position Transcript:      2125
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 709,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3737):
GGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAG
R
ATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGA
Celera SNP ID:                hCV16259603
SNP Position Transcript:      5053
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,867|A,623) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1685,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3738):
AGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAG
R
CCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGT
Celera SNP ID:                hCV11755246
SNP Position Transcript:      5080
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(G,30|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1694,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3739):
GGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGG
Y
TGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAG
Celera SNP ID:                hCV16259605
SNP Position Transcript:      6407
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2136,(A,GCT) (V,GTT)



Context              (SEQ ID NO:3740):
CAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAG
S
CAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGA
Celera SNP ID:                hCV16256745
SNP Position Transcript:      7024
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2342,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3741):
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Y
CACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGC
Celera SNP ID:                hCV16259589
SNP Position Transcript:      8611
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 2871,(P,CCA) (S,TCA)



Context              (SEQ ID NO:3742):
GCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCC
M
GAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACT
Celera SNP ID:                hCV25755928
SNP Position Transcript:      7026
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,34|C,0)  african american(A,37|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2342,(P,CCA) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|C,0)  african american(A,33|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2342,(P,CCA) (P,CCC)



Context              (SEQ ID NO:3743):
TGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTG
K
CCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGA
Celera SNP ID:                hCV8794958
SNP Position Transcript:      1675
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 559,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3744):
GTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTC
M
GGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTA
Celera SNP ID:                hCV32344161
SNP Position Transcript:      3746
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:441, 1249,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:3745):
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
M
CTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCA
Celera SNP ID:                hCV32344162
SNP Position Transcript:      8679
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:441, 2893,(G,GGA) (G,GGC)



Context              (SEQ ID NO:3746):
CTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACA
M
ATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTC
Celera SNP ID:                hCV16256749
SNP Position Transcript:      9313
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:441, None



Context              (SEQ ID NO:3747):
GGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGA
R
GGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAA
Celera SNP ID:                hCV637112
SNP Position Transcript:      9490
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,71|G,21) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:441, None



Context              (SEQ ID NO:3748):
AAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAG
S
TTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCC
Celera SNP ID:                hCV16256750
SNP Position Transcript:      10163
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:441, None



Gene Number:                  73
Celera Gene:                  hCG39710 - 62000133324146
Celera Transcript:            hCT2280204 - 62000133324188
Public Transcript Accession:
Celera Protein:               hCP1803829 - 197000064936470
Public Protein Accession:
Gene Symbol:                  MAP1A
Protein Name:                  microtubule-associated protein 1A
Celera Genomic Axis:          GA_x5YUV32W323(10850669..10883250)
Chromosome:                   15
OMIM NUMBER:                  600178
OMIM Information:


Transcript Sequence  (SEQ ID NO:181):
GCACGCTGGGACCTGCAGAAGCACTCTTTGCTAATTGTGATCGGCGATATCGGTACAGAGAGTCAGCTGAGGGCCGTGCGGGCCCACCTTGAACAAGGGA
TTCTCTCCTGGAACATTGACCTGTCATCCTTTGACTTGAACCAACAGTTGAGACTCTTCATTACCCGGCACCTAGCTCACTTCTCCTCAGAGGTCAAAGG
CCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCTTAGC
AGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTTTG
CCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATTG
GAGCCACCTGGGATTATCCAGTTCCCAAGAGACCCTGCACCTCCGGCTAAACCCTGAGCCCACTCTGCCCACCATGGACGGCGTGGCTGAGTTCTCCGAG
TATGTCTCTGAGACTGTGGACGTGCCATCCCCATTTGACCTACTAGAGCCCCCCACCTCAGGGGGCTTCCTCAAGCTCTCCAAGCCTTGTTGCTACATCT
TCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTTTTGGAAGCTGGT
ACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAGTGGCAGAGCTA
GAGGAGGAGCAGTCCCAGGGCTCTAGCAGTTACAGCGACTGGGTGAAGAACCTTATCTCTCCTGAGCTTGGAGTTGTCTTTTTCAACGTGCCTGAGAAGC
TGCGGCTTCCTGATGCCTCCCGGAAAGCCAAGCGTAGCATTGAGGAGGCCTGCCTCACTCTGCAGCACTTAAACCGCCTGGGCATCCAGGCTGAGCCTCT
ATATCGTGTGGTCAGCAATACCATTGAGCCACTGACCCTCTTCCACAAAATGGGTGTGGGCCGGCTGGACATGTATGTCCTCAACCCTGTCAAGGACAGC
AAGGAGATGCAGTTCCTCATGCAAAAGTGGGCAGGCAATAGTAAAGCCAAGACAGGCATCGTGCTGCCCAATGGGAAGGAGGCTGAGATCTCCGTGCCCT
ACCTTACCTCTATCACTGCTCTGGTGGTCTGGCTACCAGCCAATCCCACTGAGAAGATTGTGCGTGTGCTTTTTCCAGGAAATGCTCCCCAAAACAAGAT
CTTGGAGGGCCTAGAAAAGCTTCGGCATCTGGACTTCCTGCGTTACCCTGTGGCCACGCAGAAGGACCTGGCTTCTGGGGCTGTGCCTACCAACCTCAAG
CCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAG
AGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAA
GCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAAAGACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATA
TCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCAAGAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATG
CCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTA
TAAAGCCAAGGTCCCTGGAAGAGTCAAAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAG
GGAACTGTACCACTCCCAACCATCAGTGGGCACAGGGAGCTGGTCCTATCCTCACCAGAGGACCTCACACAGGACTTTGAGGAGATGAAGCGTGAGGAGA
GGGCTTTGCTGGCTGAACAAAGGGACACAGGACTAGGAGATAAGCCATTCCCTCTAGACACTGCAGAGGAGGGACCCCCAAGTACAGCTATCCAGGGAAC
ACCACCCTCTGTTCCAGGGCTGGGACAAGAAGAACATGTGATGAAGGAGAAAGAGCTTGTCCCAGAGGTCCCTGAGGAACAAGGCAGCAAGGACAGAGGC
CTAGACTCTGGGGCTGAAACAGAGGAAGAGAAAGATACCTGGGAGGAAAAGAAGCAGAGGGAAGCAGAGAGGCTCCCAGACAGAACAGAAGCCAGAGAGG
AAAGTGAACCTGAAGTAAAGGAGGATGTGATAGAAAAGGCTGAGTTAGAAGAAATGGAGGAGGTACACCCTTCAGATGAGGAGGAAGAGGACGCGACAAA
AGCTGAGGGTTTTTACCAAAAACATATGCAGGAACCCTTGAAGGTAACTCCAAGGAGCCGGGAGGCTTTTGGGGGTCGGGAATTGGGACTCCAGGGCAAG
GCCCCTGAGAAGGAGACCTCGTTATTCCTAAGCAGCCTGACCACACCTGCAGGAGCCACTGAGCATGTCTCTTACATCCAGGATGAGACAATCCCTGGCT
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
CGGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTC
ACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCCACTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCA
CATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGGCAAGAGCTCCCTGCTGCTTGACACAGTCACAAGCATCCC
TTCCTCCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCA
CCACCCTGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGG
AGGAGACAGCAAACGTAGAGATGTCTGAGAAACTTTGCAGTCAATATGGAACTCCAGTGTTTAGTGCCCCTGGGCATGCCCTACATCCAGGAGAACCAGC
CCTTGGAGAAGCAGAGGAGCGGTGCCTTAGCCCAGATGACAGCACAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCC
TTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTCAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAG
ATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACC
TGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACA
GGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGATGAGGTGCTCAGATATCCTGACC
GAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCT
GACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCC
CTGGATGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGG
CCGAGGATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACA
GACAGACATCACAGATGACAGCCTTGACAGGAAGTCACCTGCCAGCTCATTCTCTCACTCTACACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATC
ACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTGCCAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGG
AAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGATGAAGTTTTACAGCAGAAAGACAAAACTCTGGAGCA
CAAGGAGGTGGTAGAGCCGAAGGATACAGCCATCTATCAGAAAGATGAGGCTCTGCATGTAAAGAATGAGGCTGTGAAACAGCAGGATAAGGCTTTAGAA
CAAAAGGGCAGAGACTTAGAGCAAAAAGACACAGCCCTAGAACAGAAGGACAAGGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCC
TGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAA
AGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGTCAGAAGTGTTGAACATAAG
GCTCCGGAGGACACGGTCGCTGAAATGAAGGACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAG
TCTCAGAAAAGAAGGATCAGGCCTTAGAACAAAAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCA
CCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAG
AAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGG
GGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCC
TGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCT
CACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGC
GGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGAAGGGGCTAGAGGTGGAGCGCTGGCTTGCTGAATC
ACCAGTTGGGTTGCCACCAGAGGAAGAGGACAAACTGACCCGCTCTCCCTTTGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGG
GTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATGCCACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCC
CACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTT
CTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTAC
CGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCA
CCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATGAGCAGATGATGCT
TACTGGGCTTGGCCCTGCATGCCCCACTAGAGAGCCTCCACTTGGAGCAGCTGGGGATTGGCCCCCATGCCTCTCAACCAAGGAGGCAGCTGCCGGCCGA
AACACATCTGCAGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTG
TACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCC
TCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAA
CTGGAGAAGGGGGCTCGGGAACAGCCAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTG
AGGCACATGTTAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGC
TCCCCCACAGCTGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCC
ACCAGAACCCGGCATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTC
TCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGCGGAGCGCTTCTC
TCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCA
CCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAG
CCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAA
GGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACACATTGCTCTCCCCT
GAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCCACTGAGCCTCGGC
CCCATCGTGGGGAGCTCTCCCCATCCTTCCTGAACCCACCTCTGCCCCCATCCATAGATGATAGGGACCTCTCAACTGAGGAAGTTCGGCTAGTAGGAAG
AGGGGGGCGGCGCCGGGTAGGGGGGCCAGGGACCACTGGGGGCCCATGCCCTGTGACTGATGAGACACCCCCTACATCAGCCAGTGACTCAGGCTCCTCA
CAGTCAGATTCTGATGTCCCGCCAGAAACTGAGGAGTGTCCGTCCATCACAGCTGAGGCAGCCCTCGACTCAGATGAAGATGGAGACTTCCTACCTGTGG
ACAAAGCTGGGGGTGTCAGTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGA
TGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCC
CCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGG
CCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGC
AGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCTT
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
GCAAGGCCCAGTGGGGGGAGAATCTTCAGGTGACTCTGATCCCTACTCATGACACGGAGGTGACTCGTGAGTGGTACCAACAAACTCATGAGCAGCAGCA
ACAACTGAATGTCCTGGTCCTGGCTAGCAGCAGCACCGTGGTGATGCAGGATGAGTCCTTCCCTGCCTGCAAGATTGAGTTCTGAAAGAGCCGCCCTCCC
TTCCCCAAGGATCCACTCCCCCAGCTCCTTTAGAGAATGGCTACTGCTGAGTCCTTTGGGGTTGAGGGAGATGGGAGCTAGGGGGAGGGGAGGGAGATGT
CTTGTTGTGGGGACTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGAT
GGGGGAGGGGACAAATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCT
CAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGAAGGATTTCCA
ATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAACCACCAGGG
TCTGAGTTCTAGCAGGGTCCTGGGGGTATCCCACTGCTATACTGTTCTACTGCTTCCCTCAGTATCTGAATGTCTCAATTTAAAACTTGAAGCTCTTTAG
ACCAATAGACTGGTGAGAGGAGAAAGGAGCTTATCCCCCAGACCCTGCTTTATACCATTCACATCCCAGGGCTGTGTCCAGACAGCACAAAACGGCAAGG
AGAGCCCAAGCCCCAATGCCAGAATTCTTCCAAACTCCCTGACTCTTTGAAGTTTTTACTCACCCCATTTCAATTATCCTGATCCCTTCTCATCCCCTGC
TTGGCTTCTCTGCATGTGGTCATCTGCTGTGGCTTGGTGTTTAATGGGTTAAAAATAAGCCACTGCCTGACATCCCAACATTTGACACCCCAGCAATGTG
TGACTCCCCCAACATTCCACTATGCCATCCTGCAGCTGAAATGGGAACACTGGCTGCCTCTCCAAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAG
CCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAGCTTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAA
ATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCCAGACTGAGAAACCCAGAAGCTGGTAGTCATGTGGGC
TTGCCTTCTCTGCCAAACGACTGGGAAACCAAAATGAGCCCACCTTGTGTTCTTCCTAGCTCCACCCTCCCCGTGCTGCTGTGTTCTGCTCCTCCCCACG
CTTCCCTGCTATAGTTCCCAGCTGCTGTAACGGAGCCACCTCCAACTCTAACAATAAACCAAGTTCATTGCA


Protein Sequence     (SEQ ID NO:442):
MDGVAEFSEYVSETVDVPSPFDLLEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNILVDGGSDRKSCFWKLVRHLDRIDSVLLTHIGADNLPGING
LLQRKVAELEEEQSQGSSSYSDWVKNLISPELGVVFFNVPEKLRLPDASRKAKRSIEEACLTLQHLNRLGIQAEPLYRVVSNTIEPLTLFHKMGVGRLDM
YVLNPVKDSKEMQFLMQKWAGNSKAKTGIVLPNGKEAEISVPYLTSITALVVWLPANPTEKIVRVLFPGNAPQNKILEGLEKLRHLDFLRYPVATQKDLA
SGAVPTNLKPSKIKQRADSKESLKATTKTAVSKLAKREEVVEEGAKEARSELAKELAKTEKKAKESSEKPPEKPAKPERVKTESSEALKAEKRKLIKDKV
GKKHLKEKISKLEEKKDKEKKEIKKERKELKKDEGRKEEKKDAKKEEKRKDTKPELKKISKPDLKPFTPEVRKTLYKAKVPGRVKIDRSRAIRGEKELSS
EPQTPPAQKGTVPLPTISGHRELVLSSPEDLTQDFEEMKREERALLAEQRDTGLGDKPFPLDTAEEGPPSTAIQGTPPSVPGLGQEEHVMKEKELVPEVP
EEQGSKDRGLDSGAETEEEKDTWEEKKQREAERLPDRTEAREESEPEVKEDVIEKAELEEMEEVHPSDEEEEDATKAEGFYQKHMQEPLKVTPRSREAFG
GRELGLQGKAPEKETSLFLSSLTTPAGATEHVSYIQDETIPGYSETEQTISDEEIHDEPEERPAPPRFHTSTYDLPGPEGAGPFEASQPADSAVPATSGK
VYGTPETELTYPTNIVAAPLAEEEHVSSATSITECDKLSSFATSVAEDQSVASLTAPQTEETGKSSLLLDTVTSIPSSRTEATQGLDYVPSAGTISPTSS
LEEDKGFKSPPCEDFSVTGESEKRGEIIGKGLSGERAVEEEEEETANVEMSEKLCSQYGTPVFSAPGHALHPGEPALGEAEERCLSPDDSTVKMASPPPS
GPPSATHTPFHQSPVEEKSEPQDFQEADSWGDTKRTPGVGKEDAAEETVKPGPEEGTLEKEEKVPPPRSPQAQEAPVNIDEGLTGCTIQLLPAQDKAIVF
EIMEAGEPTGPILGAEALPGGLRTLPQEPGKPQKDEVLRYPDRSLSPEDAESLSVLSVPSPDTANQEPTPKSPCGLTEQYLHKDRWPEVSPEDTQSLSLS
EESPSKETSLDVSSKQLSPESLGTLQFGELNLGKEEMGHLMQAEDTSHHTAPMSVPEPHAATASPPTDGTTRYSAQTDITDDSLDRKSPASSFSHSTPSG
NGKYLPGAITSPDEHILTPDSSFSKSPESLPGPALEDIAIKWEDKVPGLKDRTSEQKKEPEPKDEVLQQKDKTLEHKEVVEPKDTAIYQKDEALHVKNEA
VKQQDKALEQKGRDLEQKDTALEQKDKALEPKDKDLEEKDKALEQKDKIPEEKDKALEQKDTALEQKDKALEPKDKDLEQKDRVLEQKEKIPEEKDKALD
QKVRSVEHKAPEDTVAEMKDRDLEQTDKAPEQKHQAQEQKDKVSEKKDQALEQKYWALGQKDEALEQNIQALEENHQTQEQESLVQEDKTRKPKMLEEKS
PEKVKAMEEKLEALLEKTKALGLEESLVQEGRAREQEEKYWRGQDVVQEWQETSPTREEPAGEQKELAPAWEDTSPEQDNRYWRGREDVALEQDTYWREL
SCERKVWFPHELDGQGARPHYTEERESTFLDEGPDDEQEVPLREHATRSPWASDFKDFQESSPQKGLEVERWLAESPVGLPPEEEDKLTRSPFEIISPPA
SPPEMVGQRVPSAPGQESPIPDPKLMPHMKNEPTTPSWLADIPPWVPKDRPLPPAPLSPAPGPPTPAPESHTPAPFSWGTAEYDSVVAAVQEGAAELEGG
PYSPLGKDYRKAEGEREEEGRAEAPDKSSHSSKVPEASKSHATTEPEQTEPEQREPTPYPDERSFQYADIYEQMMLTGLGPACPTREPPLGAAGDWPPCL
STKEAAAGRNTSAEKELSSPISPKSLQSDTPTFSYAALAGPTVPPRPEPGPSMEPSLTPPAVPPRAPILSKGPSPPLNGNILSCSPDRRSPSPKESGRSH
WDDSTSDSELEKGAREQPEKEAQSPSPPHPIPMGSPTLWPETEAHVSPPLDSHLGPARPSLDFPASAFGFSSLQPAPPQLPSPAEPRSAPCGSLAFSGDR
ALALAPGPPTRTRHDEYLEVTKAPSLDSSLPQLPSPSSPGAPLLSNLPRPASPALSEGSSSEATTPVISSVAERFSPSLEAAEQESGELDPGMEPAAHSL
WDLTPLSPAPPASLDLALAPAPSLPGDMGDGILPCHLECSEAATEKPSPFQVPSEDCAANGPTETSPNPPGPAPAKAENEEAAACPAWERGAWPEGAERS
SRPDTLLSPEQPVCPAGGSGGPPSSASPEVEAGPQGCATEPRPHRGELSPSFLNPPLPPSIDDRDLSTEEVRLVGRGGRRRVGGPGTTGGPCPVTDETPP
TSASDSGSSQSDSDVPPETEECPSITAEAALDSDEDGDFLPVDKAGGVSGTHHPRPGHDPPPLPQPDPRPSPPRPDVCMADPEGLSSESGRVERLREKEK
VQGRVGRRAPGKAKPASPARRLDLRGKRSPTPGKGPADRASRAPPRPRSTTSQVTPAEEKDGHSPMSKGLVNGLKAGPMALSSKGSSGAPVYVDLAYIPN
HCSGKTADLDFFRRVRASYYVVSGNDPANGEPSRAVLDALLEGKAQWGENLQVTLIPTHDTEVTREWYQQTHEQQQQLNVLVLASSSTVVMQDESFPACK
IEF*



SNP Information


Context              (SEQ ID NO:3749):
CCTCAGAGGTCAAAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGT
W
CATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACT
Celera SNP ID:                hCV16139228
SNP Position Transcript:      285
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:442, None



Context              (SEQ ID NO:3750):
TGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAA
S
GCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAA
Celera SNP ID:                hCV16259588
SNP Position Transcript:      5388
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1605,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3751):
GGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCT
S
TGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATC
Celera SNP ID:                hCV25749830
SNP Position Transcript:      5434
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1621,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3752):
TCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACC
R
TTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCT
Celera SNP ID:                hCV27486001
SNP Position Transcript:      4127
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1185,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3753):
GCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCA
M
ACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAG
Celera SNP ID:                hCV8794965
SNP Position Transcript:      1580
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 336,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3754):
ATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCT
Y
CCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAA
Celera SNP ID:                hCV25754152
SNP Position Transcript:      4090
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1173,(P,CCC) (S,TCC)



Context              (SEQ ID NO:3755):
GGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGG
Y
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
Celera SNP ID:                hCV16017461
SNP Position Transcript:      8479
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2636,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3756):
GCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCA
R
CATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCA
Celera SNP ID:                hCV29187601
SNP Position Transcript:      3806
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1078,(N,AAC) (S,AGC)



Context              (SEQ ID NO:3757):
CCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACA
Y
ATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCC
Celera SNP ID:                hCV29187604
SNP Position Transcript:      7787
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2405,(T,ACA) (I,ATA)



Context              (SEQ ID NO:3758):
GTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCC
Y
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Celera SNP ID:                hCV27490911
SNP Position Transcript:      8319
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,118|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2582,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3759):
ACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTG
M
CAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGA
Celera SNP ID:                hCV8794974
SNP Position Transcript:      4564
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1331,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3760):
AGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTT
R
CCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAG
Celera SNP ID:                hCV8794976
SNP Position Transcript:      5575
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1668,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3761):
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
R
GAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGG
Celera SNP ID:                hCV8794986
SNP Position Transcript:      5742
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1723,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3762):
TAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAG
M
TGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCG
Celera SNP ID:                hCV8794994
SNP Position Transcript:      7111
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2180,(L,CTG) (M,ATG)



Context              (SEQ ID NO:3763):
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
Y
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
Celera SNP ID:                hCV25760192
SNP Position Transcript:      2901
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,5)  african american(C,30|T,2)  total(C,45|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 776,(P,CCC) (P,CCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|T,9)  african american(C,34|T,2)  total(C,65|T,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 776,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,26|T,8) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 776,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3764):
ACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACA
M
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
Celera SNP ID:                hCV16259604
SNP Position Transcript:      5232
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1553,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:3765):
GCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCG
Y
AGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCAT
Celera SNP ID:                hCV26634551
SNP Position Transcript:      8394
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2607,(R,CGC) (R,CGT)



Context              (SEQ ID NO:3766):
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Y
GTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGC
Celera SNP ID:                hCV26634554
SNP Position Transcript:      8420
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2616,(A,GCG) (V,GTG)



Context              (SEQ ID NO:3767):
AGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATG
K
CCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACC
Celera SNP ID:                hCV8794982
SNP Position Transcript:      5714
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1714,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3768):
TCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGT
R
CAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGG
Celera SNP ID:                hCV8794987
SNP Position Transcript:      6243
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1890,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3769):
CCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCG
K
TGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTC
Celera SNP ID:                hCV16259587
SNP Position Transcript:      4128
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1185,(R,CGT) (R,CGG)



Context              (SEQ ID NO:3770):
AAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGC
Y
TAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCC
Celera SNP ID:                hCV26634549
SNP Position Transcript:      5452
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1627,(L,CTA) (L,TTA)



Context              (SEQ ID NO:3771):
CCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGG
M
ATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATAC
Celera SNP ID:                hCV26634550
SNP Position Transcript:      6179
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1869,(E,GAA) (A,GCA)



Context              (SEQ ID NO:3772):
TCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGG
R
CTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAG
Celera SNP ID:                hCV3014559
SNP Position Transcript:      3819
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,26|A,16) ; no_pop(G,-|A,-) ; no_pop(G,16
4|A,76)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1082,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3773):
CAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTA
K
CCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGC
Celera SNP ID:                hCV8794967
SNP Position Transcript:      1642
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 357,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3774):
GCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTG
S
AGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTG
Celera SNP ID:                hCV8795005
SNP Position Transcript:      8679
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2702,(C,TGC) (W,TGG)



Context              (SEQ ID NO:3775):
CGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCA
M
AAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAA
Celera SNP ID:                hCV16256715
SNP Position Transcript:      1663
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 364,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3776):
CAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTT
Y
CAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACAC
Celera SNP ID:                hCV16259595
SNP Position Transcript:      3645
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1024,(F,TTT) (F,TTC)



Context              (SEQ ID NO:3777):
AGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTT
M
AGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACT
Celera SNP ID:                hCV12075424
SNP Position Transcript:      3646
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1025,(Q,CAG) (K,AAG)



Context              (SEQ ID NO:3778):
TTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCC
Y
CTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCT
Celera SNP ID:                hCV25755903
SNP Position Transcript:      7619
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,2)  african american(C,33|T,1)  total(C,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2349,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3779):
TACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCC
R
CTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGG
Celera SNP ID:                hCV27503543
SNP Position Transcript:      3061
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 830,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3780):
GCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGG
Y
AAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCAC
Celera SNP ID:                hCV26634552
SNP Position Transcript:      8406
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2611,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3781):
CAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTG
K
CCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGA
Celera SNP ID:                hCV8794966
SNP Position Transcript:      1630
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 353,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3782):
AGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTG
K
CAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGA
Celera SNP ID:                hCV8794975
SNP Position Transcript:      5523
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1650,(W,TGG) (C,TGT)



Context              (SEQ ID NO:3783):
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
W
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
Celera SNP ID:                hCV8795006
SNP Position Transcript:      8700
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2709,(L,CTT) (L,CTA)



Context              (SEQ ID NO:3784):
AAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCT
K
AGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACT
Celera SNP ID:                hCV16259592
SNP Position Transcript:      297
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:442, None



Context              (SEQ ID NO:3785):
GCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTT
K
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
Celera SNP ID:                hCV16259593
SNP Position Transcript:      399
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:442, None



Context              (SEQ ID NO:3786):
GACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCA
R
GAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTA
Celera SNP ID:                hCV25750075
SNP Position Transcript:      1865
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,32|G,0)  total(A,71|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 431,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3787):
CTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGC
R
GAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTC
Celera SNP ID:                hCV25757513
SNP Position Transcript:      7389
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,34)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2272,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3788):
GCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGG
M
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Celera SNP ID:                hCV26634553
SNP Position Transcript:      8411
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2613,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3789):
CAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTG
K
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
Celera SNP ID:                hCV8794981
SNP Position Transcript:      5641
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|G,4)  african american(C,2|G,30)  total(C,12|G,34)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1690,(A,GCC) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,184) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1690,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3790):
AGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGG
M
CAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAA
Celera SNP ID:                hCV8794988
SNP Position Transcript:      6712
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2047,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3791):
GCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGG
Y
ATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCT
Celera SNP ID:                hCV8794995
SNP Position Transcript:      7213
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2214,(H,CAT) (Y,TAT)



Context              (SEQ ID NO:3792):
GTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTT
K
TGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAG
Celera SNP ID:                hCV16259562
SNP Position Transcript:      789
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 72,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3793):
TGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAG
R
ATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGA
Celera SNP ID:                hCV11755243
SNP Position Transcript:      4306
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,1|G,33)  total(A,9|G,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1245,(D,GAT) (N,AAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1245,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3794):
TCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGA
Y
ACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACA
Celera SNP ID:                hCV11755244
SNP Position Transcript:      4308
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,1902|C,1282) ; no_pop(T,20|C,14) ; no_pop(T,-|C,-) ; no_pop(T
,162|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1245,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3795):
TGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATG
S
CACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGC
Celera SNP ID:                hCV16171915
SNP Position Transcript:      6052
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,6|C,234
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1827,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3796):
CAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACA
S
CCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGG
Celera SNP ID:                hCV12075429
SNP Position Transcript:      6214
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1881,(A,GCC) (P,CCC)



Context              (SEQ ID NO:3797):
TGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAG
S
AAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATG
Celera SNP ID:                hCV16259606
SNP Position Transcript:      6387
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1938,(S,AGC) (R,AGG)



Context              (SEQ ID NO:3798):
CGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAG
Y
ATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGA
Celera SNP ID:                hCV16017472
SNP Position Transcript:      8492
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2640,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3799):
CCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACC
M
TGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGA
Celera SNP ID:                hCV25758645
SNP Position Transcript:      3306
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,32)  african american(A,1|C,29)  total(A,1|C,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 911,(P,CCC) (P,CCA)



Context              (SEQ ID NO:3800):
GTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGG
M
CAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTG
Celera SNP ID:                hCV25753227
SNP Position Transcript:      5609
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,11)  african american(A,30|C,0)  total(A,33|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1679,(D,GAC) (A,GCC)



Context              (SEQ ID NO:3801):
GGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGA
K
GAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGA
Celera SNP ID:                hCV25759354
SNP Position Transcript:      5766
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,30)  african american(G,1|T,33)  total(G,1|T,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1731,(D,GAT) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,40)  african american(G,1|T,35)  total(G,1|T,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1731,(D,GAT) (E,GAG)



Context              (SEQ ID NO:3802):
AGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGA
Y
TATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGAT
Celera SNP ID:                hCV29187602
SNP Position Transcript:      3878
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1102,(I,ATT) (T,ACT)



Context              (SEQ ID NO:3803):
GAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAG
W
CATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAAT
Celera SNP ID:                hCV29187603
SNP Position Transcript:      7553
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2327,(D,GAC) (V,GTC)



Context              (SEQ ID NO:3804):
CCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAAT
M
GGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGG
Celera SNP ID:                hCV8794980
SNP Position Transcript:      5614
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 1681,(R,AGG) (R,CGG)



Context              (SEQ ID NO:3805):
CCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAG
M
CTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGT
Celera SNP ID:                hCV8794993
SNP Position Transcript:      6741
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2056,(S,AGC) (R,AGA)



Context              (SEQ ID NO:3806):
TACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTC
M
AAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAG
Celera SNP ID:                hCV16259594
SNP Position Transcript:      2026
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 485,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3807):
GGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAG
R
ATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGA
Celera SNP ID:                hCV16259603
SNP Position Transcript:      4954
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,867|A,623) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1461,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3808):
AGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAG
R
CCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGT
Celera SNP ID:                hCV11755246
SNP Position Transcript:      4981
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(G,30|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1470,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3809):
GGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGG
Y
TGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAG
Celera SNP ID:                hCV16259605
SNP Position Transcript:      6308
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1912,(A,GCT) (V,GTT)



Context              (SEQ ID NO:3810):
CAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAG
S
CAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGA
Celera SNP ID:                hCV16256745
SNP Position Transcript:      6925
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2118,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3811):
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Y
CACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGC
Celera SNP ID:                hCV16259589
SNP Position Transcript:      8512
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 2647,(P,CCA) (S,TCA)



Context              (SEQ ID NO:3812):
GCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCC
M
GAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACT
Celera SNP ID:                hCV25755928
SNP Position Transcript:      6927
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,34|C,0)  african american(A,37|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2118,(P,CCA) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|C,0)  african american(A,33|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2118,(P,CCA) (P,CCC)



Context              (SEQ ID NO:3813):
TGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTG
K
CCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGA
Celera SNP ID:                hCV8794958
SNP Position Transcript:      1576
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 335,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3814):
GTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTC
M
GGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTA
Celera SNP ID:                hCV32344161
SNP Position Transcript:      3647
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:442, 1025,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:3815):
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
M
CTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCA
Celera SNP ID:                hCV32344162
SNP Position Transcript:      8580
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:442, 2669,(G,GGA) (G,GGC)



Context              (SEQ ID NO:3816):
CTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACA
M
ATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTC
Celera SNP ID:                hCV16256749
SNP Position Transcript:      9214
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:442, None



Context              (SEQ ID NO:3817):
GGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGA
R
GGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAA
Celera SNP ID:                hCV637112
SNP Position Transcript:      9391
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,71|G,21) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:442, None



Context              (SEQ ID NO:3818):
AAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAG
S
TTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCC
Celera SNP ID:                hCV16256750
SNP Position Transcript:      10064
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:442, None



Gene Number:                  73
Celera Gene:                  hCG39710 - 62000133324146
Celera Transcript:            hCT2280207 - 62000133324147
Public Transcript Accession:
Celera Protein:               hCP1803825 - 197000064936466
Public Protein Accession:
Gene Symbol:                  MAP1A
Protein Name:                  microtubule-associated protein 1A
Celera Genomic Axis:          GA_x5YUV32W323(10850669..10883250)
Chromosome:                   15
OMIM NUMBER:                  600178
OMIM Information:


Transcript Sequence  (SEQ ID NO:182):
ATGGAGACAACTCCGGGGCTGGGGCTCCGAAGTCCCGGCGCACCGCTGGCTCAGAACCCCGCGGAGCTGCTGTGCGAGGCCGGAGCCGCGGTGGCGGCTG
CACGCTGGGACCTGCAGAAGCACTCTTTGCTAATTGTGATCGGCGATATCGGTACAGAGAGTCAGCTGAGGGCCGTGCGGGCCCACCTTGAACAAGGGAT
TCTCTCCTGGAACATTGACCTGTCATCCTTTGACTTGAACCAACAGTTGAGACTCTTCATTACCCGGCACCTAGCTCACTTCTCCTCAGAGGTCAAAGGC
CAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCTTAGCA
GCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTTTGC
CCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATTGG
AGCCACCTGGGATTATCCAGTTCCCAAGAGACCCTGCACCTCCGGCTAAACCCTGAGCCCACTCTGCCCACCATGGACGGCGTGGCTGAGTTCTCCGAGT
ATGTCTCTGAGACTGTGGACGTGCCATCCCCATTTGACCTACTAGAGCCCCCCACCTCAGGGGGCTTCCTCAAGCTCTCCAAGCCTTGTTGCTACATCTT
CCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTTTTGGAAGCTGGTA
CGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAGTGGCAGAGCTAG
AGGAGGAGCAGTCCCAGGGCTCTAGCAGTTACAGCGACTGGGTGAAGAACCTTATCTCTCCTGAGCTTGGAGTTGTCTTTTTCAACGTGCCTGAGAAGCT
GCGGCTTCCTGATGCCTCCCGGAAAGCCAAGCGTAGCATTGAGGAGGCCTGCCTCACTCTGCAGCACTTAAACCGCCTGGGCATCCAGGCTGAGCCTCTA
TATCGTGTGGTCAGCAATACCATTGAGCCACTGACCCTCTTCCACAAAATGGGTGTGGGCCGGCTGGACATGTATGTCCTCAACCCTGTCAAGGACAGCA
AGGAGATGCAGTTCCTCATGCAAAAGTGGGCAGGCAATAGTAAAGCCAAGACAGGCATCGTGCTGCCCAATGGGAAGGAGGCTGAGATCTCCGTGCCCTA
CCTTACCTCTATCACTGCTCTGGTGGTCTGGCTACCAGCCAATCCCACTGAGAAGATTGTGCGTGTGCTTTTTCCAGGAAATGCTCCCCAAAACAAGATC
TTGGAGGGCCTAGAAAAGCTTCGGCATCTGGACTTCCTGCGTTACCCTGTGGCCACGCAGAAGGACCTGGCTTCTGGGGCTGTGCCTACCAACCTCAAGC
CCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGA
GGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAG
CCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAAAGACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATAT
CAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCAAGAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGC
CAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTAT
AAAGCCAAGGTCCCTGGAAGAGTCAAAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGG
GAACTGTACCACTCCCAACCATCAGTGGGCACAGGGAGCTGGTCCTATCCTCACCAGAGGACCTCACACAGGACTTTGAGGAGATGAAGCGTGAGGAGAG
GGCTTTGCTGGCTGAACAAAGGGACACAGGACTAGGAGATAAGCCATTCCCTCTAGACACTGCAGAGGAGGGACCCCCAAGTACAGCTATCCAGGGAACA
CCACCCTCTGTTCCAGGGCTGGGACAAGAAGAACATGTGATGAAGGAGAAAGAGCTTGTCCCAGAGGTCCCTGAGGAACAAGGCAGCAAGGACAGAGGCC
TAGACTCTGGGGCTGAAACAGAGGAAGAGAAAGATACCTGGGAGGAAAAGAAGCAGAGGGAAGCAGAGAGGCTCCCAGACAGAACAGAAGCCAGAGAGGA
AAGTGAACCTGAAGTAAAGGAGGATGTGATAGAAAAGGCTGAGTTAGAAGAAATGGAGGAGGTACACCCTTCAGATGAGGAGGAAGAGGACGCGACAAAA
GCTGAGGGTTTTTACCAAAAACATATGCAGGAACCCTTGAAGGTAACTCCAAGGAGCCGGGAGGCTTTTGGGGGTCGGGAATTGGGACTCCAGGGCAAGG
CCCCTGAGAAGGAGACCTCGTTATTCCTAAGCAGCCTGACCACACCTGCAGGAGCCACTGAGCATGTCTCTTACATCCAGGATGAGACAATCCCTGGCTA
CTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCCC
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
CCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCCACTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCAC
ATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGGCAAGAGCTCCCTGCTGCTTGACACAGTCACAAGCATCCCT
TCCTCCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCAC
CACCCTGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGA
GGAGACAGCAAACGTAGAGATGTCTGAGAAACTTTGCAGTCAATATGGAACTCCAGTGTTTAGTGCCCCTGGGCATGCCCTACATCCAGGAGAACCAGCC
CTTGGAGAAGCAGAGGAGCGGTGCCTTAGCCCAGATGACAGCACAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCT
TTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTCAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGA
TGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCT
GTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAG
GCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGATGAGGTGCTCAGATATCCTGACCG
AAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTG
ACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCC
TGGATGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGC
CGAGGATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAG
ACAGACATCACAGATGACAGCCTTGACAGGAAGTCACCTGCCAGCTCATTCTCTCACTCTACACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCA
CAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTGCCAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGA
AGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGATGAAGTTTTACAGCAGAAAGACAAAACTCTGGAGCAC
AAGGAGGTGGTAGAGCCGAAGGATACAGCCATCTATCAGAAAGATGAGGCTCTGCATGTAAAGAATGAGGCTGTGAAACAGCAGGATAAGGCTTTAGAAC
AAAAGGGCAGAGACTTAGAGCAAAAAGACACAGCCCTAGAACAGAAGGACAAGGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCT
GGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAA
GACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGTCAGAAGTGTTGAACATAAGG
CTCCGGAGGACACGGTCGCTGAAATGAAGGACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGT
CTCAGAAAAGAAGGATCAGGCCTTAGAACAAAAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCAC
CAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGA
AGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGG
GCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCT
GAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTC
ACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCG
GGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGAAGGGGCTAGAGGTGGAGCGCTGGCTTGCTGAATCA
CCAGTTGGGTTGCCACCAGAGGAAGAGGACAAACTGACCCGCTCTCCCTTTGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGG
TTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATGCCACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCC
ACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTC
TCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACC
GCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCAC
CACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATGAGCAGATGATGCTT
ACTGGGCTTGGCCCTGCATGCCCCACTAGAGAGCCTCCACTTGGAGCAGCTGGGGATTGGCCCCCATGCCTCTCAACCAAGGAGGCAGCTGCCGGCCGAA
ACACATCTGCAGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGT
ACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCT
CTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAAC
TGGAGAAGGGGGCTCGGGAACAGCCAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGA
GGCACATGTTAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCT
CCCCCACAGCTGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCA
CCAGAACCCGGCATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCT
CCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGCGGAGCGCTTCTCT
CCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCAC
CCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGC
CACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAG
GCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACACATTGCTCTCCCCTG
AGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCCACTGAGCCTCGGCC
CCATCGTGGGGAGCTCTCCCCATCCTTCCTGAACCCACCTCTGCCCCCATCCATAGATGATAGGGACCTCTCAACTGAGGAAGTTCGGCTAGTAGGAAGA
GGGGGGCGGCGCCGGGTAGGGGGGCCAGGGACCACTGGGGGCCCATGCCCTGTGACTGATGAGACACCCCCTACATCAGCCAGTGACTCAGGCTCCTCAC
AGTCAGATTCTGATGTCCCGCCAGAAACTGAGGAGTGTCCGTCCATCACAGCTGAGGCAGCCCTCGACTCAGATGAAGATGGAGACTTCCTACCTGTGGA
CAAAGCTGGGGGTGTCAGTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGAT
GTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCC
CAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGC
CCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCA
GGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCTTG
ACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGGG
CAAGGCCCAGTGGGGGGAGAATCTTCAGGTGAGTGACTCTGATCCCTACTCATGACACGGAGGTGACTCGTGAGTGGTACCAACAAACTCATGAGCAGCA
GCAACAACTGAATGTCCTGGTCCTGGCTAGCAGCAGCACCGTGGTGATGCAGGATGAGTCCTTCCCTGCCTGCAAGATTGAGTTCTGAAAGAGCCGCCCT
CCCTTCCCCAAGGATCCACTCCCCCAGCTCCTTTAGAGAATGGCTACTGCTGAGTCCTTTGGGGTTGAGGGAGATGGGAGCTAGGGGGAGGGGAGGGAGA
TGTCTTGTTGTGGGGACTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAG
GATGGGGGAGGGGACAAATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGG
TCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGAAGGATTT
CCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAACCACCA
GGGTCTGAGTTCTAGCAGGGTCCTGGGGGTATCCCACTGCTATACTGTTCTACTGCTTCCCTCAGTATCTGAATGTCTCAATTTAAAACTTGAAGCTCTT
TAGACCAATAGACTGGTGAGAGGAGAAAGGAGCTTATCCCCCAGACCCTGCTTTATACCATTCACATCCCAGGGCTGTGTCCAGACAGCACAAAACGGCA
AGGAGAGCCCAAGCCCCAATGCCAGAATTCTTCCAAACTCCCTGACTCTTTGAAGTTTTTACTCACCCCATTTCAATTATCCTGATCCCTTCTCATCCCC
TGCTTGGCTTCTCTGCATGTGGTCATCTGCTGTGGCTTGGTGTTTAATGGGTTAAAAATAAGCCACTGCCTGACATCCCAACATTTGACACCCCAGCAAT
GTGTGACTCCCCCAACATTCCACTATGCCATCCTGCAGCTGAAATGGGAACACTGGCTGCCTCTCCAAACCCGCTCTTGGACAGAGGATCTGGGAGGTGG
AAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAGCTTAACTCCTACAGAGTGAAATGAAAACGGGCTG
AAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCCAGACTGAGAAACCCAGAAGCTGGTAGTCATGTG
GGCTTGCCTTCTCTGCCAAACGACTGGGAAACCAAAATGAGCCCACCTTGTGTTCTTCCTAGCTCCACCCTCCCCGTGCTGCTGTGTTCTGCTCCTCCCC
ACGCTTCCCTGCTATAGTTCCCAGCTGCTGTAACGGAGCCACCTCCAACTCTAACAATAAACCAAGTTCATTGCA


Protein Sequence     (SEQ ID NO:443):
METTPGLGLRSPGAPLAQNPAELLCEAGAAVAAARWDLQKHSLLIVIGDIGTESQLRAVRAHLEQGILSWNIDLSSFDLNQQLRLFITRHLAHFSSEVKG
QRTLCHQSEILETIILVNPSADSISSEVHHLLSSSSAYKLLILSGQSLEPGGDLILQSGTYSYENFAQVLHNPEISQLLSNRDPGIQAFLTVSCLGEGDW
SHLGLSSSQETLHLRLNPEPTLPTMDGVAEFSEYVSETVDVPSPFDLLEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNILVDGGSDRKSCFWKLV
RHLDRIDSVLLTHIGADNLPGINGLLQRKVAELEEEQSQGSSSYSDWVKNLISPELGVVFFNVPEKLRLPDASRKAKRSIEEACLTLQHLNRLGIQAEPL
YRVVSNTIEPLTLFHKMGVGRLDMYVLNPVKDSKEMQFLMQKWAGNSKAKTGIVLPNGKEAEISVPYLTSITALVVWLPANPTEKIVRVLFPGNAPQNKI
LEGLEKLRHLDFLRYPVATQKDLASGAVPTNLKPSKIKQRADSKESLKATTKTAVSKLAKREEVVEEGAKEARSELAKELAKTEKKAKESSEKPPEKPAK
PERVKTESSEALKAEKRKLIKDKVGKKHLKEKISKLEEKKDKEKKEIKKERKELKKDEGRKEEKKDAKKEEKRKDTKPELKKISKPDLKPFTPEVRKTLY
KAKVPGRVKIDRSRAIRGEKELSSEPQTPPAQKGTVPLPTISGHRELVLSSPEDLTQDFEEMKREERALLAEQRDTGLGDKPFPLDTAEEGPPSTAIQGT
PPSVPGLGQEEHVMKEKELVPEVPEEQGSKDRGLDSGAETEEEKDTWEEKKQREAERLPDRTEAREESEPEVKEDVIEKAELEEMEEVHPSDEEEEDATK
AEGFYQKHMQEPLKVTPRSREAFGGRELGLQGKAPEKETSLFLSSLTTPAGATEHVSYIQDETIPGYSETEQTISDEEIHDEPEERPAPPRFHTSTYDLP
GPEGAGPFEASQPADSAVPATSGKVYGTPETELTYPTNIVAAPLAEEEHVSSATSITECDKLSSFATSVAEDQSVASLTAPQTEETGKSSLLLDTVTSIP
SSRTEATQGLDYVPSAGTISPTSSLEEDKGFKSPPCEDFSVTGESEKRGEIIGKGLSGERAVEEEEEETANVEMSEKLCSQYGTPVFSAPGHALHPGEPA
LGEAEERCLSPDDSTVKMASPPPSGPPSATHTPFHQSPVEEKSEPQDFQEADSWGDTKRTPGVGKEDAAEETVKPGPEEGTLEKEEKVPPPRSPQAQEAP
VNIDEGLTGCTIQLLPAQDKAIVFEIMEAGEPTGPILGAEALPGGLRTLPQEPGKPQKDEVLRYPDRSLSPEDAESLSVLSVPSPDTANQEPTPKSPCGL
TEQYLHKDRWPEVSPEDTQSLSLSEESPSKETSLDVSSKQLSPESLGTLQFGELNLGKEEMGHLMQAEDTSHHTAPMSVPEPHAATASPPTDGTTRYSAQ
TDITDDSLDRKSPASSFSHSTPSGNGKYLPGAITSPDEHILTPDSSFSKSPESLPGPALEDIAIKWEDKVPGLKDRTSEQKKEPEPKDEVLQQKDKTLEH
KEVVEPKDTAIYQKDEALHVKNEAVKQQDKALEQKGRDLEQKDTALEQKDKALEPKDKDLEEKDKALEQKDKIPEEKDKALEQKDTALEQKDKALEPKDK
DLEQKDRVLEQKEKIPEEKDKALDQKVRSVEHKAPEDTVAEMKDRDLEQTDKAPEQKHQAQEQKDKVSEKKDQALEQKYWALGQKDEALEQNIQALEENH
QTQEQESLVQEDKTRKPKMLEEKSPEKVKAMEEKLEALLEKTKALGLEESLVQEGRAREQEEKYWRGQDVVQEWQETSPTREEPAGEQKELAPAWEDTSP
EQDNRYWRGREDVALEQDTYWRELSCERKVWFPHELDGQGARPHYTEERESTFLDEGPDDEQEVPLREHATRSPWASDFKDFQESSPQKGLEVERWLAES
PVGLPPEEEDKLTRSPFEIISPPASPPEMVGQRVPSAPGQESPIPDPKLMPHMKNEPTTPSWLADIPPWVPKDRPLPPAPLSPAPGPPTPAPESHTPAPF
SWGTAEYDSVVAAVQEGAAELEGGPYSPLGKDYRKAEGEREEEGRAEAPDKSSHSSKVPEASKSHATTEPEQTEPEQREPTPYPDERSFQYADIYEQMML
TGLGPACPTREPPLGAAGDWPPCLSTKEAAAGRNTSAEKELSSPISPKSLQSDTPTFSYAALAGPTVPPRPEPGPSMEPSLTPPAVPPRAPILSKGPSPP
LNGNILSCSPDRRSPSPKESGRSHWDDSTSDSELEKGAREQPEKEAQSPSPPHPIPMGSPTLWPETEAHVSPPLDSHLGPARPSLDFPASAFGFSSLQPA
PPQLPSPAEPRSAPCGSLAFSGDRALALAPGPPTRTRHDEYLEVTKAPSLDSSLPQLPSPSSPGAPLLSNLPRPASPALSEGSSSEATTPVISSVAERFS
PSLEAAEQESGELDPGMEPAAHSLWDLTPLSPAPPASLDLALAPAPSLPGDMGDGILPCHLECSEAATEKPSPFQVPSEDCAANGPTETSPNPPGPAPAK
AENEEAAACPAWERGAWPEGAERSSRPDTLLSPEQPVCPAGGSGGPPSSASPEVEAGPQGCATEPRPHRGELSPSFLNPPLPPSIDDRDLSTEEVRLVGR
GGRRRVGGPGTTGGPCPVTDETPPTSASDSGSSQSDSDVPPETEECPSITAEAALDSDEDGDFLPVDKAGGVSGTHHPRPGHDPPPLPQPDPRPSPPRPD
VCMADPEGLSSESGRVERLREKEKVQGRVGRRAPGKAKPASPARRLDLRGKRSPTPGKGPADRASRAPPRPRSTTSQVTPAEEKDGHSPMSKGLVNGLKA
GPMALSSKGSSGAPVYVDLAYIPNHCSGKTADLDFFRRVRASYYVVSGNDPANGEPSRAVLDALLEGKAQWGENLQVSDSDPYS*



SNP Information


Context              (SEQ ID NO:3819):
CCTCAGAGGTCAAAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGT
W
CATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACT
Celera SNP ID:                hCV16139228
SNP Position Transcript:      384
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 128,(V,GTT) (V,GTA)



Context              (SEQ ID NO:3820):
TGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAA
S
GCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAA
Celera SNP ID:                hCV16259588
SNP Position Transcript:      5487
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1829,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3821):
GGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCT
S
TGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATC
Celera SNP ID:                hCV25749830
SNP Position Transcript:      5533
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1845,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3822):
TCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACC
R
TTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCT
Celera SNP ID:                hCV27486001
SNP Position Transcript:      4226
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1409,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3823):
GCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCA
M
ACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAG
Celera SNP ID:                hCV8794965
SNP Position Transcript:      1679
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 560,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3824):
ATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCT
Y
CCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAA
Celera SNP ID:                hCV25754152
SNP Position Transcript:      4189
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1397,(P,CCC) (S,TCC)



Context              (SEQ ID NO:3825):
GGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGG
Y
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
Celera SNP ID:                hCV16017461
SNP Position Transcript:      8578
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2860,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3826):
GCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCA
R
CATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCA
Celera SNP ID:                hCV29187601
SNP Position Transcript:      3905
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1302,(N,AAC) (S,AGC)



Context              (SEQ ID NO:3827):
CCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACA
Y
ATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCC
Celera SNP ID:                hCV29187604
SNP Position Transcript:      7886
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2629,(T,ACA) (I,ATA)



Context              (SEQ ID NO:3828):
GTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCC
Y
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Celera SNP ID:                hCV27490911
SNP Position Transcript:      8418
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,118|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2806,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3829):
ACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTG
M
CAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGA
Celera SNP ID:                hCV8794974
SNP Position Transcript:      4663
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1555,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3830):
AGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTT
R
CCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAG
Celera SNP ID:                hCV8794976
SNP Position Transcript:      5674
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1892,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3831):
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
R
GAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGG
Celera SNP ID:                hCV8794986
SNP Position Transcript:      5841
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1947,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3832):
TAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAG
M
TGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCG
Celera SNP ID:                hCV8794994
SNP Position Transcript:      7210
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2404,(L,CTG) (M,ATG)



Context              (SEQ ID NO:3833):
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
Y
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
Celera SNP ID:                hCV25760192
SNP Position Transcript:      3000
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,5)  african american(C,30|T,2)  total(C,45|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1000,(P,CCC) (P,CCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|T,9)  african american(C,34|T,2)  total(C,65|T,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1000,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,26|T,8) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1000,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3834):
ACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACA
M
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
Celera SNP ID:                hCV16259604
SNP Position Transcript:      5331
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1777,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:3835):
GCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCG
Y
AGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCAT
Celera SNP ID:                hCV26634551
SNP Position Transcript:      8493
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2831,(R,CGC) (R,CGT)



Context              (SEQ ID NO:3836):
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Y
GTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGC
Celera SNP ID:                hCV26634554
SNP Position Transcript:      8519
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2840,(A,GCG) (V,GTG)



Context              (SEQ ID NO:3837):
AGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATG
K
CCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACC
Celera SNP ID:                hCV8794982
SNP Position Transcript:      5813
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1938,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3838):
TCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGT
R
CAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGG
Celera SNP ID:                hCV8794987
SNP Position Transcript:      6342
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2114,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3839):
CCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCG
K
TGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTC
Celera SNP ID:                hCV16259587
SNP Position Transcript:      4227
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1409,(R,CGT) (R,CGG)



Context              (SEQ ID NO:3840):
AAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGC
Y
TAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCC
Celera SNP ID:                hCV26634549
SNP Position Transcript:      5551
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1851,(L,CTA) (L,TTA)



Context              (SEQ ID NO:3841):
CCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGG
M
ATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATAC
Celera SNP ID:                hCV26634550
SNP Position Transcript:      6278
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2093,(E,GAA) (A,GCA)



Context              (SEQ ID NO:3842):
TCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGG
R
CTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAG
Celera SNP ID:                hCV3014559
SNP Position Transcript:      3918
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,26|A,16) ; no_pop(G,-|A,-) ; no_pop(G,16
4|A,76)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1306,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3843):
CAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTA
K
CCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGC
Celera SNP ID:                hCV8794967
SNP Position Transcript:      1741
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 581,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3844):
GCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTG
S
AGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTG
Celera SNP ID:                hCV8795005
SNP Position Transcript:      8778
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2926,(C,TGC) (W,TGG)



Context              (SEQ ID NO:3845):
CGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCA
M
AAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAA
Celera SNP ID:                hCV16256715
SNP Position Transcript:      1762
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 588,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3846):
CAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTT
Y
CAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACAC
Celera SNP ID:                hCV16259595
SNP Position Transcript:      3744
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1248,(F,TTT) (F,TTC)



Context              (SEQ ID NO:3847):
AGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTT
M
AGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACT
Celera SNP ID:                hCV12075424
SNP Position Transcript:      3745
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1249,(Q,CAG) (K,AAG)



Context              (SEQ ID NO:3848):
TTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCC
Y
CTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCT
Celera SNP ID:                hCV25755903
SNP Position Transcript:      7718
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,2)  african american(C,33|T,1)  total(C,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2573,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3849):
TACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCC
R
CTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGG
Celera SNP ID:                hCV27503543
SNP Position Transcript:      3160
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1054,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3850):
GCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGG
Y
AAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCAC
Celera SNP ID:                hCV26634552
SNP Position Transcript:      8505
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2835,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3851):
CAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTG
K
CCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGA
Celera SNP ID:                hCV8794966
SNP Position Transcript:      1729
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 577,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3852):
AGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTG
K
CAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGA
Celera SNP ID:                hCV8794975
SNP Position Transcript:      5622
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1874,(W,TGG) (C,TGT)



Context              (SEQ ID NO:3853):
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
W
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
Celera SNP ID:                hCV8795006
SNP Position Transcript:      8799
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2933,(L,CTT) (L,CTA)



Context              (SEQ ID NO:3854):
AAGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCT
K
AGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACT
Celera SNP ID:                hCV16259592
SNP Position Transcript:      396
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 132,(L,CTT) (L,CTG)



Context              (SEQ ID NO:3855):
GCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTT
K
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
Celera SNP ID:                hCV16259593
SNP Position Transcript:      498
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 166,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3856):
GACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCA
R
GAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTA
Celera SNP ID:                hCV25750075
SNP Position Transcript:      1964
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,32|G,0)  total(A,71|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 655,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3857):
CTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGC
R
GAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTC
Celera SNP ID:                hCV25757513
SNP Position Transcript:      7488
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,34)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2496,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3858):
GCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGG
M
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Celera SNP ID:                hCV26634553
SNP Position Transcript:      8510
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2837,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3859):
CAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTG
K
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
Celera SNP ID:                hCV8794981
SNP Position Transcript:      5740
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|G,4)  african american(C,2|G,30)  total(C,12|G,34)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1914,(A,GCC) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,184) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1914,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3860):
AGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGG
M
CAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAA
Celera SNP ID:                hCV8794988
SNP Position Transcript:      6811
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2271,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3861):
GCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGG
Y
ATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCT
Celera SNP ID:                hCV8794995
SNP Position Transcript:      7312
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2438,(H,CAT) (Y,TAT)



Context              (SEQ ID NO:3862):
GTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTT
K
TGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAG
Celera SNP ID:                hCV16259562
SNP Position Transcript:      888
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 296,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3863):
TGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAG
R
ATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGA
Celera SNP ID:                hCV11755243
SNP Position Transcript:      4405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,1|G,33)  total(A,9|G,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1469,(D,GAT) (N,AAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1469,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3864):
TCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGA
Y
ACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACA
Celera SNP ID:                hCV11755244
SNP Position Transcript:      4407
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,1902|C,1282) ; no_pop(T,20|C,14) ; no_pop(T,-|C,-) ; no_pop(T
,162|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1469,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3865):
TGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATG
S
CACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGC
Celera SNP ID:                hCV16171915
SNP Position Transcript:      6151
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,6|C,234
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2051,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3866):
CAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACA
S
CCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGG
Celera SNP ID:                hCV12075429
SNP Position Transcript:      6313
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2105,(A,GCC) (P,CCC)



Context              (SEQ ID NO:3867):
TGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAG
S
AAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATG
Celera SNP ID:                hCV16259606
SNP Position Transcript:      6486
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2162,(S,AGC) (R,AGG)



Context              (SEQ ID NO:3868):
CGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAG
Y
ATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGA
Celera SNP ID:                hCV16017472
SNP Position Transcript:      8591
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2864,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3869):
CCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACC
M
TGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGA
Celera SNP ID:                hCV25758645
SNP Position Transcript:      3405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,32)  african american(A,1|C,29)  total(A,1|C,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1135,(P,CCC) (P,CCA)



Context              (SEQ ID NO:3870):
GTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGG
M
CAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTG
Celera SNP ID:                hCV25753227
SNP Position Transcript:      5708
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,11)  african american(A,30|C,0)  total(A,33|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1903,(D,GAC) (A,GCC)



Context              (SEQ ID NO:3871):
GGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGA
K
GAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGA
Celera SNP ID:                hCV25759354
SNP Position Transcript:      5865
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,30)  african american(G,1|T,33)  total(G,1|T,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1955,(D,GAT) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,40)  african american(G,1|T,35)  total(G,1|T,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1955,(D,GAT) (E,GAG)



Context              (SEQ ID NO:3872):
AGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGA
Y
TATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGAT
Celera SNP ID:                hCV29187602
SNP Position Transcript:      3977
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1326,(I,ATT) (T,ACT)



Context              (SEQ ID NO:3873):
GAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAG
W
CATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAAT
Celera SNP ID:                hCV29187603
SNP Position Transcript:      7652
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2551,(D,GAC) (V,GTC)



Context              (SEQ ID NO:3874):
CCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAAT
M
GGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGG
Celera SNP ID:                hCV8794980
SNP Position Transcript:      5713
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 1905,(R,AGG) (R,CGG)



Context              (SEQ ID NO:3875):
CCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAG
M
CTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGT
Celera SNP ID:                hCV8794993
SNP Position Transcript:      6840
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2280,(S,AGC) (R,AGA)



Context              (SEQ ID NO:3876):
TACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTC
M
AAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAG
Celera SNP ID:                hCV16259594
SNP Position Transcript:      2125
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 709,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3877):
GGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAG
R
ATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGA
Celera SNP ID:                hCV16259603
SNP Position Transcript:      5053
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,867|A,623) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1685,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3878):
AGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAG
R
CCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGT
Celera SNP ID:                hCV11755246
SNP Position Transcript:      5080
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(G,30|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1694,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3879):
GGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGG
Y
TGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAG
Celera SNP ID:                hCV16259605
SNP Position Transcript:      6407
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2136,(A,GCT) (V,GTT)



Context              (SEQ ID NO:3880):
CAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAG
S
CAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGA
Celera SNP ID:                hCV16256745
SNP Position Transcript:      7024
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2342,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3881):
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Y
CACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGC
Celera SNP ID:                hCV16259589
SNP Position Transcript:      8611
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 2871,(P,CCA) (S,TCA)



Context              (SEQ ID NO:3882):
GCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCC
M
GAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACT
Celera SNP ID:                hCV25755928
SNP Position Transcript:      7026
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,34|C,0)  african american(A,37|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2342,(P,CCA) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|C,0)  african american(A,33|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2342,(P,CCA) (P,CCC)



Context              (SEQ ID NO:3883):
TGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTG
K
CCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGA
Celera SNP ID:                hCV8794958
SNP Position Transcript:      1675
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 559,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3884):
GTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTC
M
GGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTA
Celera SNP ID:                hCV32344161
SNP Position Transcript:      3746
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:443, 1249,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:3885):
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
M
CTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCA
Celera SNP ID:                hCV32344162
SNP Position Transcript:      8679
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:443, 2893,(G,GGA) (G,GGC)



Context              (SEQ ID NO:3886):
CTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACA
M
ATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTC
Celera SNP ID:                hCV16256749
SNP Position Transcript:      9317
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:443, None



Context              (SEQ ID NO:3887):
GGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGA
R
GGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAA
Celera SNP ID:                hCV637112
SNP Position Transcript:      9494
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,71|G,21) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:443, None



Context              (SEQ ID NO:3888):
AAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAG
S
TTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCC
Celera SNP ID:                hCV16256750
SNP Position Transcript:      10167
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:443, None



Gene Number:                  73
Celera Gene:                  hCG39710 - 62000133324146
Celera Transcript:            hCT2280208 - 62000133324158
Public Transcript Accession:
Celera Protein:               hCP1803826 - 197000064936467
Public Protein Accession:
Gene Symbol:                  MAP1A
Protein Name:                  microtubule-associated protein 1A
Celera Genomic Axis:          GA_x5YUV32W323(10850669..10883250)
Chromosome:                   15
OMIM NUMBER:                  600178
OMIM Information:


Transcript Sequence  (SEQ ID NO:183):
GCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCTTAG
CAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTTT
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
GGAGCCACCTGGGATTATCCAGTTCCCAAGAGACCCTGCACCTCCGGCTAAACCCTGAGCCCACTCTGCCCACCATGGACGGCGTGGCTGAGTTCTCCGA
GTATGTCTCTGAGACTGTGGACGTGCCATCCCCATTTGACCTACTAGAGCCCCCCACCTCAGGGGGCTTCCTCAAGCTCTCCAAGCCTTGTTGCTACATC
TTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTTTTGGAAGCTGG
TACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAGTGGCAGAGCT
AGAGGAGGAGCAGTCCCAGGGCTCTAGCAGTTACAGCGACTGGGTGAAGAACCTTATCTCTCCTGAGCTTGGAGTTGTCTTTTTCAACGTGCCTGAGAAG
CTGCGGCTTCCTGATGCCTCCCGGAAAGCCAAGCGTAGCATTGAGGAGGCCTGCCTCACTCTGCAGCACTTAAACCGCCTGGGCATCCAGGCTGAGCCTC
TATATCGTGTGGTCAGCAATACCATTGAGCCACTGACCCTCTTCCACAAAATGGGTGTGGGCCGGCTGGACATGTATGTCCTCAACCCTGTCAAGGACAG
CAAGGAGATGCAGTTCCTCATGCAAAAGTGGGCAGGCAATAGTAAAGCCAAGACAGGCATCGTGCTGCCCAATGGGAAGGAGGCTGAGATCTCCGTGCCC
TACCTTACCTCTATCACTGCTCTGGTGGTCTGGCTACCAGCCAATCCCACTGAGAAGATTGTGCGTGTGCTTTTTCCAGGAAATGCTCCCCAAAACAAGA
TCTTGGAGGGCCTAGAAAAGCTTCGGCATCTGGACTTCCTGCGTTACCCTGTGGCCACGCAGAAGGACCTGGCTTCTGGGGCTGTGCCTACCAACCTCAA
GCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAA
GAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCA
AGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAAAGACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGAT
ATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCAAGAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGAT
GCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCT
ATAAAGCCAAGGTCCCTGGAAGAGTCAAAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAA
GGGAACTGTACCACTCCCAACCATCAGTGGGCACAGGGAGCTGGTCCTATCCTCACCAGAGGACCTCACACAGGACTTTGAGGAGATGAAGCGTGAGGAG
AGGGCTTTGCTGGCTGAACAAAGGGACACAGGACTAGGAGATAAGCCATTCCCTCTAGACACTGCAGAGGAGGGACCCCCAAGTACAGCTATCCAGGGAA
CACCACCCTCTGTTCCAGGGCTGGGACAAGAAGAACATGTGATGAAGGAGAAAGAGCTTGTCCCAGAGGTCCCTGAGGAACAAGGCAGCAAGGACAGAGG
CCTAGACTCTGGGGCTGAAACAGAGGAAGAGAAAGATACCTGGGAGGAAAAGAAGCAGAGGGAAGCAGAGAGGCTCCCAGACAGAACAGAAGCCAGAGAG
GAAAGTGAACCTGAAGTAAAGGAGGATGTGATAGAAAAGGCTGAGTTAGAAGAAATGGAGGAGGTACACCCTTCAGATGAGGAGGAAGAGGACGCGACAA
AAGCTGAGGGTTTTTACCAAAAACATATGCAGGAACCCTTGAAGGTAACTCCAAGGAGCCGGGAGGCTTTTGGGGGTCGGGAATTGGGACTCCAGGGCAA
GGCCCCTGAGAAGGAGACCTCGTTATTCCTAAGCAGCCTGACCACACCTGCAGGAGCCACTGAGCATGTCTCTTACATCCAGGATGAGACAATCCCTGGC
TACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGC
CCGGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACT
CACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCCACTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCC
ACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGGCAAGAGCTCCCTGCTGCTTGACACAGTCACAAGCATCC
CTTCCTCCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATC
ACCACCCTGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAG
GAGGAGACAGCAAACGTAGAGATGTCTGAGAAACTTTGCAGTCAATATGGAACTCCAGTGTTTAGTGCCCCTGGGCATGCCCTACATCCAGGAGAACCAG
CCCTTGGAGAAGCAGAGGAGCGGTGCCTTAGCCCAGATGACAGCACAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACC
CTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTCAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAA
GATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCAC
CTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCAC
AGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGATGAGGTGCTCAGATATCCTGAC
CGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCC
TGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTC
CCTGGATGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAG
GCCGAGGATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCAC
AGACAGACATCACAGATGACAGCCTTGACAGGAAGTCACCTGCCAGCTCATTCTCTCACTCTACACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGAT
CACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTGCCAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGG
GAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGATGAAGTTTTACAGCAGAAAGACAAAACTCTGGAGC
ACAAGGAGGTGGTAGAGCCGAAGGATACAGCCATCTATCAGAAAGATGAGGCTCTGCATGTAAAGAATGAGGCTGTGAAACAGCAGGATAAGGCTTTAGA
ACAAAAGGGCAGAGACTTAGAGCAAAAAGACACAGCCCTAGAACAGAAGGACAAGGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCC
CTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATA
AAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGTCAGAAGTGTTGAACATAA
GGCTCCGGAGGACACGGTCGCTGAAATGAAGGACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAA
GTCTCAGAAAAGAAGGATCAGGCCTTAGAACAAAAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACC
ACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGA
GAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGG
GGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTC
CTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCC
TCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTG
CGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGAAGGGGCTAGAGGTGGAGCGCTGGCTTGCTGAAT
CACCAGTTGGGTTGCCACCAGAGGAAGAGGACAAACTGACCCGCTCTCCCTTTGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAG
GGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATGCCACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATC
CCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCT
TCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTA
CCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCC
ACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATGAGCAGATGATGC
TTACTGGGCTTGGCCCTGCATGCCCCACTAGAGAGCCTCCACTTGGAGCAGCTGGGGATTGGCCCCCATGCCTCTCAACCAAGGAGGCAGCTGCCGGCCG
AAACACATCTGCAGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACT
GTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCC
CTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGA
ACTGGAGAAGGGGGCTCGGGAACAGCCAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACT
GAGGCACATGTTAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAG
CTCCCCCACAGCTGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCC
CACCAGAACCCGGCATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCT
CTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGCGGAGCGCTTCT
CTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGC
ACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCA
GCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCA
AGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACACATTGCTCTCCCC
TGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCCACTGAGCCTCGG
CCCCATCGTGGGGAGCTCTCCCCATCCTTCCTGAACCCACCTCTGCCCCCATCCATAGATGATAGGGACCTCTCAACTGAGGAAGTTCGGCTAGTAGGAA
GAGGGGGGCGGCGCCGGGTAGGGGGGCCAGGGACCACTGGGGGCCCATGCCCTGTGACTGATGAGACACCCCCTACATCAGCCAGTGACTCAGGCTCCTC
ACAGTCAGATTCTGATGTCCCGCCAGAAACTGAGGAGTGTCCGTCCATCACAGCTGAGGCAGCCCTCGACTCAGATGAAGATGGAGACTTCCTACCTGTG
GACAAAGCTGGGGGTGTCAGTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTG
ATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGC
CCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGG
GCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGG
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
TGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAG
GGCAAGGCCCAGTGGGGGGAGAATCTTCAGGTGAGTGACTCTGATCCCTACTCATGACACGGAGGTGACTCGTGAGTGGTACCAACAAACTCATGAGCAG
CAGCAACAACTGAATGTCCTGGTCCTGGCTAGCAGCAGCACCGTGGTGATGCAGGATGAGTCCTTCCCTGCCTGCAAGATTGAGTTCTGAAAGAGCCGCC
CTCCCTTCCCCAAGGATCCACTCCCCCAGCTCCTTTAGAGAATGGCTACTGCTGAGTCCTTTGGGGTTGAGGGAGATGGGAGCTAGGGGGAGGGGAGGGA
GATGTCTTGTTGTGGGGACTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAG
AGGATGGGGGAGGGGACAAATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATG
GGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGAAGGAT
TTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAACCAC
CAGGGTCTGAGTTCTAGCAGGGTCCTGGGGGTATCCCACTGCTATACTGTTCTACTGCTTCCCTCAGTATCTGAATGTCTCAATTTAAAACTTGAAGCTC
TTTAGACCAATAGACTGGTGAGAGGAGAAAGGAGCTTATCCCCCAGACCCTGCTTTATACCATTCACATCCCAGGGCTGTGTCCAGACAGCACAAAACGG
CAAGGAGAGCCCAAGCCCCAATGCCAGAATTCTTCCAAACTCCCTGACTCTTTGAAGTTTTTACTCACCCCATTTCAATTATCCTGATCCCTTCTCATCC
CCTGCTTGGCTTCTCTGCATGTGGTCATCTGCTGTGGCTTGGTGTTTAATGGGTTAAAAATAAGCCACTGCCTGACATCCCAACATTTGACACCCCAGCA
ATGTGTGACTCCCCCAACATTCCACTATGCCATCCTGCAGCTGAAATGGGAACACTGGCTGCCTCTCCAAACCCGCTCTTGGACAGAGGATCTGGGAGGT
GGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAGCTTAACTCCTACAGAGTGAAATGAAAACGGGC
TGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCCAGACTGAGAAACCCAGAAGCTGGTAGTCATG
TGGGCTTGCCTTCTCTGCCAAACGACTGGGAAACCAAAATGAGCCCACCTTGTGTTCTTCCTAGCTCCACCCTCCCCGTGCTGCTGTGTTCTGCTCCTCC
CCACGCTTCCCTGCTATAGTTCCCAGCTGCTGTAACGGAGCCACCTCCAACTCTAACAATAAACCAAGTTCATTGCA


Protein Sequence     (SEQ ID NO:444):
MDGVAEFSEYVSETVDVPSPFDLLEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNILVDGGSDRKSCFWKLVRHLDRIDSVLLTHIGADNLPGING
LLQRKVAELEEEQSQGSSSYSDWVKNLISPELGVVFFNVPEKLRLPDASRKAKRSIEEACLTLQHLNRLGIQAEPLYRVVSNTIEPLTLFHKMGVGRLDM
YVLNPVKDSKEMQFLMQKWAGNSKAKTGIVLPNGKEAEISVPYLTSITALVVWLPANPTEKIVRVLFPGNAPQNKILEGLEKLRHLDFLRYPVATQKDLA
SGAVPTNLKPSKIKQRADSKESLKATTKTAVSKLAKREEVVEEGAKEARSELAKELAKTEKKAKESSEKPPEKPAKPERVKTESSEALKAEKRKLIKDKV
GKKHLKEKISKLEEKKDKEKKEIKKERKELKKDEGRKEEKKDAKKEEKRKDTKPELKKISKPDLKPFTPEVRKTLYKAKVPGRVKIDRSRAIRGEKELSS
EPQTPPAQKGTVPLPTISGHRELVLSSPEDLTQDFEEMKREERALLAEQRDTGLGDKPFPLDTAEEGPPSTAIQGTPPSVPGLGQEEHVMKEKELVPEVP
EEQGSKDRGLDSGAETEEEKDTWEEKKQREAERLPDRTEAREESEPEVKEDVIEKAELEEMEEVHPSDEEEEDATKAEGFYQKHMQEPLKVTPRSREAFG
GRELGLQGKAPEKETSLFLSSLTTPAGATEHVSYIQDETIPGYSETEQTISDEEIHDEPEERPAPPRFHTSTYDLPGPEGAGPFEASQPADSAVPATSGK
VYGTPETELTYPTNIVAAPLAEEEHVSSATSITECDKLSSFATSVAEDQSVASLTAPQTEETGKSSLLLDTVTSIPSSRTEATQGLDYVPSAGTISPTSS
LEEDKGFKSPPCEDFSVTGESEKRGEIIGKGLSGERAVEEEEEETANVEMSEKLCSQYGTPVFSAPGHALHPGEPALGEAEERCLSPDDSTVKMASPPPS
GPPSATHTPFHQSPVEEKSEPQDFQEADSWGDTKRTPGVGKEDAAEETVKPGPEEGTLEKEEKVPPPRSPQAQEAPVNIDEGLTGCTIQLLPAQDKAIVF
EIMEAGEPTGPILGAEALPGGLRTLPQEPGKPQKDEVLRYPDRSLSPEDAESLSVLSVPSPDTANQEPTPKSPCGLTEQYLHKDRWPEVSPEDTQSLSLS
EESPSKETSLDVSSKQLSPESLGTLQFGELNLGKEEMGHLMQAEDTSHHTAPMSVPEPHAATASPPTDGTTRYSAQTDITDDSLDRKSPASSFSHSTPSG
NGKYLPGAITSPDEHILTPDSSFSKSPESLPGPALEDIAIKWEDKVPGLKDRTSEQKKEPEPKDEVLQQKDKTLEHKEVVEPKDTAIYQKDEALHVKNEA
VKQQDKALEQKGRDLEQKDTALEQKDKALEPKDKDLEEKDKALEQKDKIPEEKDKALEQKDTALEQKDKALEPKDKDLEQKDRVLEQKEKIPEEKDKALD
QKVRSVEHKAPEDTVAEMKDRDLEQTDKAPEQKHQAQEQKDKVSEKKDQALEQKYWALGQKDEALEQNIQALEENHQTQEQESLVQEDKTRKPKMLEEKS
PEKVKAMEEKLEALLEKTKALGLEESLVQEGRAREQEEKYWRGQDVVQEWQETSPTREEPAGEQKELAPAWEDTSPEQDNRYWRGREDVALEQDTYWREL
SCERKVWFPHELDGQGARPHYTEERESTFLDEGPDDEQEVPLREHATRSPWASDFKDFQESSPQKGLEVERWLAESPVGLPPEEEDKLTRSPFEIISPPA
SPPEMVGQRVPSAPGQESPIPDPKLMPHMKNEPTTPSWLADIPPWVPKDRPLPPAPLSPAPGPPTPAPESHTPAPFSWGTAEYDSVVAAVQEGAAELEGG
PYSPLGKDYRKAEGEREEEGRAEAPDKSSHSSKVPEASKSHATTEPEQTEPEQREPTPYPDERSFQYADIYEQMMLTGLGPACPTREPPLGAAGDWPPCL
STKEAAAGRNTSAEKELSSPISPKSLQSDTPTFSYAALAGPTVPPRPEPGPSMEPSLTPPAVPPRAPILSKGPSPPLNGNILSCSPDRRSPSPKESGRSH
WDDSTSDSELEKGAREQPEKEAQSPSPPHPIPMGSPTLWPETEAHVSPPLDSHLGPARPSLDFPASAFGFSSLQPAPPQLPSPAEPRSAPCGSLAFSGDR
ALALAPGPPTRTRHDEYLEVTKAPSLDSSLPQLPSPSSPGAPLLSNLPRPASPALSEGSSSEATTPVISSVAERFSPSLEAAEQESGELDPGMEPAAHSL
WDLTPLSPAPPASLDLALAPAPSLPGDMGDGILPCHLECSEAATEKPSPFQVPSEDCAANGPTETSPNPPGPAPAKAENEEAAACPAWERGAWPEGAERS
SRPDTLLSPEQPVCPAGGSGGPPSSASPEVEAGPQGCATEPRPHRGELSPSFLNPPLPPSIDDRDLSTEEVRLVGRGGRRRVGGPGTTGGPCPVTDETPP
TSASDSGSSQSDSDVPPETEECPSITAEAALDSDEDGDFLPVDKAGGVSGTHHPRPGHDPPPLPQPDPRPSPPRPDVCMADPEGLSSESGRVERLREKEK
VQGRVGRRAPGKAKPASPARRLDLRGKRSPTPGKGPADRASRAPPRPRSTTSQVTPAEEKDGHSPMSKGLVNGLKAGPMALSSKGSSGAPVYVDLAYIPN
HCSGKTADLDFFRRVRASYYVVSGNDPANGEPSRAVLDALLEGKAQWGENLQVSDSDPYS*



SNP Information


Context              (SEQ ID NO:3889):
GCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGT
W
CATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACT
Celera SNP ID:                hCV16139228
SNP Position Transcript:      86
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:444, None



Context              (SEQ ID NO:3890):
TGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAA
S
GCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAA
Celera SNP ID:                hCV16259588
SNP Position Transcript:      5189
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1605,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3891):
GGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCT
S
TGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATC
Celera SNP ID:                hCV25749830
SNP Position Transcript:      5235
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1621,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3892):
TCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACC
R
TTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCT
Celera SNP ID:                hCV27486001
SNP Position Transcript:      3928
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1185,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3893):
GCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCA
M
ACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAG
Celera SNP ID:                hCV8794965
SNP Position Transcript:      1381
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 336,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3894):
ATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCT
Y
CCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAA
Celera SNP ID:                hCV25754152
SNP Position Transcript:      3891
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1173,(P,CCC) (S,TCC)



Context              (SEQ ID NO:3895):
GGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGG
Y
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
Celera SNP ID:                hCV16017461
SNP Position Transcript:      8280
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2636,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3896):
GCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCA
R
CATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCA
Celera SNP ID:                hCV29187601
SNP Position Transcript:      3607
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1078,(N,AAC) (S,AGC)



Context              (SEQ ID NO:3897):
CCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACA
Y
ATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCC
Celera SNP ID:                hCV29187604
SNP Position Transcript:      7588
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2405,(T,ACA) (I,ATA)



Context              (SEQ ID NO:3898):
GTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCC
Y
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Celera SNP ID:                hCV27490911
SNP Position Transcript:      8120
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,118|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2582,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3899):
ACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTG
M
CAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGA
Celera SNP ID:                hCV8794974
SNP Position Transcript:      4365
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1331,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3900):
AGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTT
R
CCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAG
Celera SNP ID:                hCV8794976
SNP Position Transcript:      5376
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1668,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3901):
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
R
GAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGG
Celera SNP ID:                hCV8794986
SNP Position Transcript:      5543
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1723,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3902):
TAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAG
M
TGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCG
Celera SNP ID:                hCV8794994
SNP Position Transcript:      6912
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2180,(L,CTG) (M,ATG)



Context              (SEQ ID NO:3903):
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
Y
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
Celera SNP ID:                hCV25760192
SNP Position Transcript:      2702
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,5)  african american(C,30|T,2)  total(C,45|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 776,(P,CCC) (P,CCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|T,9)  african american(C,34|T,2)  total(C,65|T,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 776,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,26|T,8) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 776,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3904):
ACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACA
M
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
Celera SNP ID:                hCV16259604
SNP Position Transcript:      5033
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1553,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:3905):
GCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCG
Y
AGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCAT
Celera SNP ID:                hCV26634551
SNP Position Transcript:      8195
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2607,(R,CGC) (R,CGT)



Context              (SEQ ID NO:3906):
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Y
GTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGC
Celera SNP ID:                hCV26634554
SNP Position Transcript:      8221
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2616,(A,GCG) (V,GTG)



Context              (SEQ ID NO:3907):
AGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATG
K
CCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACC
Celera SNP ID:                hCV8794982
SNP Position Transcript:      5515
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1714,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3908):
TCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGT
R
CAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGG
Celera SNP ID:                hCV8794987
SNP Position Transcript:      6044
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1890,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3909):
CCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCG
K
TGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTC
Celera SNP ID:                hCV16259587
SNP Position Transcript:      3929
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1185,(R,CGT) (R,CGG)



Context              (SEQ ID NO:3910):
AAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGC
Y
TAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCC
Celera SNP ID:                hCV26634549
SNP Position Transcript:      5253
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1627,(L,CTA) (L,TTA)



Context              (SEQ ID NO:3911):
CCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGG
M
ATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATAC
Celera SNP ID:                hCV26634550
SNP Position Transcript:      5980
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1869,(E,GAA) (A,GCA)



Context              (SEQ ID NO:3912):
TCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGG
R
CTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAG
Celera SNP ID:                hCV3014559
SNP Position Transcript:      3620
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,26|A,16) ; no_pop(G,-|A,-) ; no_pop(G,16
4|A,76)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1082,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3913):
CAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTA
K
CCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGC
Celera SNP ID:                hCV8794967
SNP Position Transcript:      1443
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 357,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3914):
GCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTG
S
AGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTG
Celera SNP ID:                hCV8795005
SNP Position Transcript:      8480
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2702,(C,TGC) (W,TGG)



Context              (SEQ ID NO:3915):
CGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCA
M
AAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAA
Celera SNP ID:                hCV16256715
SNP Position Transcript:      1464
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 364,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3916):
CAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTT
Y
CAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACAC
Celera SNP ID:                hCV16259595
SNP Position Transcript:      3446
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1024,(F,TTT) (F,TTC)



Context              (SEQ ID NO:3917):
AGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTT
M
AGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACT
Celera SNP ID:                hCV12075424
SNP Position Transcript:      3447
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1025,(Q,CAG) (K,AAG)



Context              (SEQ ID NO:3918):
TTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCC
Y
CTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCT
Celera SNP ID:                hCV25755903
SNP Position Transcript:      7420
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,2)  african american(C,33|T,1)  total(C,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2349,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3919):
TACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCC
R
CTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGG
Celera SNP ID:                hCV27503543
SNP Position Transcript:      2862
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 830,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3920):
GCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGG
Y
AAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCAC
Celera SNP ID:                hCV26634552
SNP Position Transcript:      8207
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2611,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3921):
CAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTG
K
CCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGA
Celera SNP ID:                hCV8794966
SNP Position Transcript:      1431
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 353,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3922):
AGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTG
K
CAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGA
Celera SNP ID:                hCV8794975
SNP Position Transcript:      5324
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1650,(W,TGG) (C,TGT)



Context              (SEQ ID NO:3923):
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
W
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
Celera SNP ID:                hCV8795006
SNP Position Transcript:      8501
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2709,(L,CTT) (L,CTA)



Context              (SEQ ID NO:3924):
GCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCT
K
AGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACT
Celera SNP ID:                hCV16259592
SNP Position Transcript:      98
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:444, None



Context              (SEQ ID NO:3925):
GCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTT
K
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
Celera SNP ID:                hCV16259593
SNP Position Transcript:      200
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:444, None



Context              (SEQ ID NO:3926):
GACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCA
R
GAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTA
Celera SNP ID:                hCV25750075
SNP Position Transcript:      1666
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,32|G,0)  total(A,71|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 431,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3927):
CTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGC
R
GAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTC
Celera SNP ID:                hCV25757513
SNP Position Transcript:      7190
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,34)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2272,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3928):
GCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGG
M
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Celera SNP ID:                hCV26634553
SNP Position Transcript:      8212
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2613,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3929):
CAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTG
K
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
Celera SNP ID:                hCV8794981
SNP Position Transcript:      5442
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|G,4)  african american(C,2|G,30)  total(C,12|G,34)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1690,(A,GCC) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,184) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1690,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3930):
AGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGG
M
CAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAA
Celera SNP ID:                hCV8794988
SNP Position Transcript:      6513
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2047,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3931):
GCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGG
Y
ATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCT
Celera SNP ID:                hCV8794995
SNP Position Transcript:      7014
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2214,(H,CAT) (Y,TAT)



Context              (SEQ ID NO:3932):
GTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTT
K
TGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAG
Celera SNP ID:                hCV16259562
SNP Position Transcript:      590
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 72,(F,TTT) (L,TTG)



Context              (SEQ ID NO:3933):
TGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAG
R
ATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGA
Celera SNP ID:                hCV11755243
SNP Position Transcript:      4107
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,1|G,33)  total(A,9|G,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1245,(D,GAT) (N,AAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1245,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3934):
TCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGA
Y
ACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACA
Celera SNP ID:                hCV11755244
SNP Position Transcript:      4109
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,1902|C,1282) ; no_pop(T,20|C,14) ; no_pop(T,-|C,-) ; no_pop(T
,162|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1245,(D,GAT) (D,GAC)



Context              (SEQ ID NO:3935):
TGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATG
S
CACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGC
Celera SNP ID:                hCV16171915
SNP Position Transcript:      5853
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,6|C,234
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1827,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3936):
CAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACA
S
CCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGG
Celera SNP ID:                hCV12075429
SNP Position Transcript:      6015
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1881,(A,GCC) (P,CCC)



Context              (SEQ ID NO:3937):
TGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAG
S
AAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATG
Celera SNP ID:                hCV16259606
SNP Position Transcript:      6188
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1938,(S,AGC) (R,AGG)



Context              (SEQ ID NO:3938):
CGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAG
Y
ATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGA
Celera SNP ID:                hCV16017472
SNP Position Transcript:      8293
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2640,(A,GCA) (V,GTA)



Context              (SEQ ID NO:3939):
CCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACC
M
TGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGA
Celera SNP ID:                hCV25758645
SNP Position Transcript:      3107
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,32)  african american(A,1|C,29)  total(A,1|C,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 911,(P,CCC) (P,CCA)



Context              (SEQ ID NO:3940):
GTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGG
M
CAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTG
Celera SNP ID:                hCV25753227
SNP Position Transcript:      5410
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,11)  african american(A,30|C,0)  total(A,33|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1679,(D,GAC) (A,GCC)



Context              (SEQ ID NO:3941):
GGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGA
K
GAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGA
Celera SNP ID:                hCV25759354
SNP Position Transcript:      5567
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,30)  african american(G,1|T,33)  total(G,1|T,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1731,(D,GAT) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,40)  african american(G,1|T,35)  total(G,1|T,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1731,(D,GAT) (E,GAG)



Context              (SEQ ID NO:3942):
AGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGA
Y
TATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGAT
Celera SNP ID:                hCV29187602
SNP Position Transcript:      3679
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1102,(I,ATT) (T,ACT)



Context              (SEQ ID NO:3943):
GAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAG
W
CATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAAT
Celera SNP ID:                hCV29187603
SNP Position Transcript:      7354
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2327,(D,GAC) (V,GTC)



Context              (SEQ ID NO:3944):
CCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAAT
M
GGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGG
Celera SNP ID:                hCV8794980
SNP Position Transcript:      5415
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 1681,(R,AGG) (R,CGG)



Context              (SEQ ID NO:3945):
CCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAG
M
CTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGT
Celera SNP ID:                hCV8794993
SNP Position Transcript:      6542
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2056,(S,AGC) (R,AGA)



Context              (SEQ ID NO:3946):
TACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTC
M
AAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAG
Celera SNP ID:                hCV16259594
SNP Position Transcript:      1827
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 485,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3947):
GGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAG
R
ATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGA
Celera SNP ID:                hCV16259603
SNP Position Transcript:      4755
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,867|A,623) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1461,(D,GAT) (N,AAT)



Context              (SEQ ID NO:3948):
AGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAG
R
CCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGT
Celera SNP ID:                hCV11755246
SNP Position Transcript:      4782
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(G,30|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1470,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3949):
GGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGG
Y
TGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAG
Celera SNP ID:                hCV16259605
SNP Position Transcript:      6109
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1912,(A,GCT) (V,GTT)



Context              (SEQ ID NO:3950):
CAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAG
S
CAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGA
Celera SNP ID:                hCV16256745
SNP Position Transcript:      6726
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2118,(P,CCA) (A,GCA)



Context              (SEQ ID NO:3951):
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Y
CACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGC
Celera SNP ID:                hCV16259589
SNP Position Transcript:      8313
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 2647,(P,CCA) (S,TCA)



Context              (SEQ ID NO:3952):
GCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCC
M
GAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACT
Celera SNP ID:                hCV25755928
SNP Position Transcript:      6728
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,34|C,0)  african american(A,37|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2118,(P,CCA) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|C,0)  african american(A,33|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2118,(P,CCA) (P,CCC)



Context              (SEQ ID NO:3953):
TGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTG
K
CCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGA
Celera SNP ID:                hCV8794958
SNP Position Transcript:      1377
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 335,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3954):
GTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTC
M
GGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTA
Celera SNP ID:                hCV32344161
SNP Position Transcript:      3448
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:444, 1025,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:3955):
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
M
CTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCA
Celera SNP ID:                hCV32344162
SNP Position Transcript:      8381
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:444, 2669,(G,GGA) (G,GGC)



Context              (SEQ ID NO:3956):
CTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACA
M
ATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTC
Celera SNP ID:                hCV16256749
SNP Position Transcript:      9019
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:444, None



Context              (SEQ ID NO:3957):
GGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGA
R
GGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAA
Celera SNP ID:                hCV637112
SNP Position Transcript:      9196
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,71|G,21) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:444, None



Context              (SEQ ID NO:3958):
AAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAG
S
TTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCC
Celera SNP ID:                hCV16256750
SNP Position Transcript:      9869
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:444, None



Gene Number:                  73
Celera Gene:                  hCG39710 - 62000133324146
Celera Transcript:            hCT30962 - 62000133324178
Public Transcript Accession:
Celera Protein:               hCP49496 - 197000064936469
Public Protein Accession:
Gene Symbol:                  MAP1A
Protein Name:                  microtubule-associated protein 1A
Celera Genomic Axis:          GA_x5YUV32W323(10850669..10883250)
Chromosome:                   15
OMIM NUMBER:                  600178
OMIM Information:


Transcript Sequence  (SEQ ID NO:184):
TTCCCTGAAGCTGCCGGCTGAGGCCGGAGCTGCCGCCTCCATGAGAGGCTTCCTCCTACACCCCAGGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCC
TAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAG
TGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTTTGCCCAGGTCCTTCACAACCCCGAGATTTCCCAA
TTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATTGGAGCCACCTGGGATTATCCAGTTCCCAAGAGA
CCCTGCACCTCCGGCTAAACCCTGAGCCCACTCTGCCCACCATGGACGGCGTGGCTGAGTTCTCCGAGTATGTCTCTGAGACTGTGGACGTGCCATCCCC
ATTTGACCTACTAGAGCCCCCCACCTCAGGGGGCTTCCTCAAGCTCTCCAAGCCTTGTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTT
GCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTTTTGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTAC
TCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAGTGGCAGAGCTAGAGGAGGAGCAGTCCCAGGGCTCTAGCAGTTA
CAGCGACTGGGTGAAGAACCTTATCTCTCCTGAGCTTGGAGTTGTCTTTTTCAACGTGCCTGAGAAGCTGCGGCTTCCTGATGCCTCCCGGAAAGCCAAG
CGTAGCATTGAGGAGGCCTGCCTCACTCTGCAGCACTTAAACCGCCTGGGCATCCAGGCTGAGCCTCTATATCGTGTGGTCAGCAATACCATTGAGCCAC
TGACCCTCTTCCACAAAATGGGTGTGGGCCGGCTGGACATGTATGTCCTCAACCCTGTCAAGGACAGCAAGGAGATGCAGTTCCTCATGCAAAAGTGGGC
AGGCAATAGTAAAGCCAAGACAGGCATCGTGCTGCCCAATGGGAAGGAGGCTGAGATCTCCGTGCCCTACCTTACCTCTATCACTGCTCTGGTGGTCTGG
CTACCAGCCAATCCCACTGAGAAGATTGTGCGTGTGCTTTTTCCAGGAAATGCTCCCCAAAACAAGATCTTGGAGGGCCTAGAAAAGCTTCGGCATCTGG
ACTTCCTGCGTTACCCTGTGGCCACGCAGAAGGACCTGGCTTCTGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAA
GGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCC
AAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGG
CACTGAAGGCAGAGAAGCGAAAGCTGATCAAAGACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAA
AAAAGAGATCAAAAAGGAGAGGAAAGAGCTCAAGAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAA
CCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTCAAAATAG
ACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAGTGGGCA
CAGGGAGCTGGTCCTATCCTCACCAGAGGACCTCACACAGGACTTTGAGGAGATGAAGCGTGAGGAGAGGGCTTTGCTGGCTGAACAAAGGGACACAGGA
CTAGGAGATAAGCCATTCCCTCTAGACACTGCAGAGGAGGGACCCCCAAGTACAGCTATCCAGGGAACACCACCCTCTGTTCCAGGGCTGGGACAAGAAG
AACATGTGATGAAGGAGAAAGAGCTTGTCCCAGAGGTCCCTGAGGAACAAGGCAGCAAGGACAGAGGCCTAGACTCTGGGGCTGAAACAGAGGAAGAGAA
AGATACCTGGGAGGAAAAGAAGCAGAGGGAAGCAGAGAGGCTCCCAGACAGAACAGAAGCCAGAGAGGAAAGTGAACCTGAAGTAAAGGAGGATGTGATA
GAAAAGGCTGAGTTAGAAGAAATGGAGGAGGTACACCCTTCAGATGAGGAGGAAGAGGACGCGACAAAAGCTGAGGGTTTTTACCAAAAACATATGCAGG
AACCCTTGAAGGTAACTCCAAGGAGCCGGGAGGCTTTTGGGGGTCGGGAATTGGGACTCCAGGGCAAGGCCCCTGAGAAGGAGACCTCGTTATTCCTAAG
CAGCCTGACCACACCTGCAGGAGCCACTGAGCATGTCTCTTACATCCAGGATGAGACAATCCCTGGCTACTCAGAGACTGAGCAGACCATCTCAGATGAG
GAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCCCGGGCCTGAAGGTGCTGGCCCATTCGAAGCCA
GCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTT
GGCTGAAGAGGAACATGTGTCCTCGGCCACTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCA
CTTACAGCTCCCCAGACAGAGGAGACAGGCAAGAGCTCCCTGCTGCTTGACACAGTCACAAGCATCCCTTCCTCCCGTACTGAAGCTACGCAGGGCTTGG
ACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACCCTGTGAGGACTTCTCTGTGACTGGGGA
GTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGACAGCAAACGTAGAGATGTCTGAGAAA
CTTTGCAGTCAATATGGAACTCCAGTGTTTAGTGCCCCTGGGCATGCCCTACATCCAGGAGAACCAGCCCTTGGAGAAGCAGAGGAGCGGTGCCTTAGCC
CAGATGACAGCACAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGA
GCCCCAAGACTTTCAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCT
GAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTA
CCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGG
AGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGATGAGGTGCTCAGATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTC
TCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGC
CAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTCCAGA
AAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGATACCTCTCACCACACAGCTCCCATG
TCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACATCACAGATGACAGCCTTGACAGGA
AGTCACCTGCCAGCTCATTCTCTCACTCTACACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGA
TAGCTCCTTCTCCAAGAGTCCTGAGTCTTTGCCAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACC
TCAGAACAGAAGAAGGAACCTGAGCCAAAGGATGAAGTTTTACAGCAGAAAGACAAAACTCTGGAGCACAAGGAGGTGGTAGAGCCGAAGGATACAGCCA
TCTATCAGAAAGATGAGGCTCTGCATGTAAAGAATGAGGCTGTGAAACAGCAGGATAAGGCTTTAGAACAAAAGGGCAGAGACTTAGAGCAAAAAGACAC
AGCCCTAGAACAGAAGGACAAGGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAA
GACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAAC
AGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGTCAGAAGTGTTGAACATAAGGCTCCGGAGGACACGGTCGCTGAAATGAAGGA
CAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACAA
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
AGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGC
TCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACA
TCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAG
AGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACA
CTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCA
GACTTCAAGGATTTCCAGGAATCCTCACCACAGAAGGGGCTAGAGGTGGAGCGCTGGCTTGCTGAATCACCAGTTGGGTTGCCACCAGAGGAAGAGGACA
AACTGACCCGCTCTCCCTTTGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTAT
CCCAGACCCTAAGCTCATGCCACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCC
CCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGG
TGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGG
TAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAG
AGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATGAGCAGATGATGCTTACTGGGCTTGGCCCTGCATGCCCCACTAGAG
AGCCTCCACTTGGAGCAGCTGGGGATTGGCCCCCATGCCTCTCAACCAAGGAGGCAGCTGCCGGCCGAAACACATCTGCAGAGAAGGAGCTTTCATCTCC
TATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATG
GAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAG
ATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCCAGAAAA
AGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACTCACAC
CTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAGCTGCCCTCTCCAGCTGAACCCC
GCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGGCATGATGAATACCTGGAAGT
GACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCA
GCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGCGGAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTG
GAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCC
AGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCC
TCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTG
CCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACACATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGG
GGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCCACTGAGCCTCGGCCCCATCGTGGGGAGCTCTCCCCATCCTTCCTG
AACCCACCTCTGCCCCCATCCATAGATGATAGGGACCTCTCAACTGAGGAAGTTCGGCTAGTAGGAAGAGGGGGGCGGCGCCGGGTAGGGGGGCCAGGGA
CCACTGGGGGCCCATGCCCTGTGACTGATGAGACACCCCCTACATCAGCCAGTGACTCAGGCTCCTCACAGTCAGATTCTGATGTCCCGCCAGAAACTGA
GGAGTGTCCGTCCATCACAGCTGAGGCAGCCCTCGACTCAGATGAAGATGGAGACTTCCTACCTGTGGACAAAGCTGGGGGTGTCAGTGGTACTCACCAC
CCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCT
CAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACG
GCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAG
GTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCT
CTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTA
TGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGGGCAAGGCCCAGTGGGGGGAGAATCTTCAGGTG
ACTCTGATCCCTACTCATGACACGGAGGTGACTCGTGAGTGGTACCAACAAACTCATGAGCAGCAGCAACAACTGAATGTCCTGGTCCTGGCTAGCAGCA
GCACCGTGGTGATGCAGGATGAGTCCTTCCCTGCCTGCAAGATTGAGTTCTGAAAGAGCCGCCCTCCCTTCCCCAAGGATCCACTCCCCCAGCTCCTTTA
GAGAATGGCTACTGCTGAGTCCTTTGGGGTTGAGGGAGATGGGAGCTAGGGGGAGGGGAGGGAGATGTCTTGTTGTGGGGACTTGGGCTGGGCTAAATGG
GAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACAAATTAGAATAGGATAGCAT
CTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGA
TTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGAAGGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACC
GTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAACCACCAGGGTCTGAGTTCTAGCAGGGTCCTGGGGGTATCCC
ACTGCTATACTGTTCTACTGCTTCCCTCAGTATCTGAATGTCTCAATTTAAAACTTGAAGCTCTTTAGACCAATAGACTGGTGAGAGGAGAAAGGAGCTT
ATCCCCCAGACCCTGCTTTATACCATTCACATCCCAGGGCTGTGTCCAGACAGCACAAAACGGCAAGGAGAGCCCAAGCCCCAATGCCAGAATTCTTCCA
AACTCCCTGACTCTTTGAAGTTTTTACTCACCCCATTTCAATTATCCTGATCCCTTCTCATCCCCTGCTTGGCTTCTCTGCATGTGGTCATCTGCTGTGG
CTTGGTGTTTAATGGGTTAAAAATAAGCCACTGCCTGACATCCCAACATTTGACACCCCAGCAATGTGTGACTCCCCCAACATTCCACTATGCCATCCTG
CAGCTGAAATGGGAACACTGGCTGCCTCTCCAAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGG
AGGAAGGAAAAAGGGAGAAGCTGAGCCACAGCTTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGC
AAGCCAGTGAGCAGCCCTGCCAGACTACTGCCAGACTGAGAAACCCAGAAGCTGGTAGTCATGTGGGCTTGCCTTCTCTGCCAAACGACTGGGAAACCAA
AATGAGCCCACCTTGTGTTCTTCCTAGCTCCACCCTCCCCGTGCTGCTGTGTTCTGCTCCTCCCCACGCTTCCCTGCTATAGTTCCCAGCTGCTGTAACG
GAGCCACCTCCAACTCTAACAATAAACCAAGTTCATTGCA


Protein Sequence     (SEQ ID NO:445):
MDGVAEFSEYVSETVDVPSPFDLLEPPTSGGFLKLSKPCCYIFPGGRGDSALFAVNGFNILVDGGSDRKSCFWKLVRHLDRIDSVLLTHIGADNLPGING
LLQRKVAELEEEQSQGSSSYSDWVKNLISPELGVVFFNVPEKLRLPDASRKAKRSIEEACLTLQHLNRLGIQAEPLYRVVSNTIEPLTLFHKMGVGRLDM
YVLNPVKDSKEMQFLMQKWAGNSKAKTGIVLPNGKEAEISVPYLTSITALVVWLPANPTEKIVRVLFPGNAPQNKILEGLEKLRHLDFLRYPVATQKDLA
SGAVPTNLKPSKIKQRADSKESLKATTKTAVSKLAKREEVVEEGAKEARSELAKELAKTEKKAKESSEKPPEKPAKPERVKTESSEALKAEKRKLIKDKV
GKKHLKEKISKLEEKKDKEKKEIKKERKELKKDEGRKEEKKDAKKEEKRKDTKPELKKISKPDLKPFTPEVRKTLYKAKVPGRVKIDRSRAIRGEKELSS
EPQTPPAQKGTVPLPTISGHRELVLSSPEDLTQDFEEMKREERALLAEQRDTGLGDKPFPLDTAEEGPPSTAIQGTPPSVPGLGQEEHVMKEKELVPEVP
EEQGSKDRGLDSGAETEEEKDTWEEKKQREAERLPDRTEAREESEPEVKEDVIEKAELEEMEEVHPSDEEEEDATKAEGFYQKHMQEPLKVTPRSREAFG
GRELGLQGKAPEKETSLFLSSLTTPAGATEHVSYIQDETIPGYSETEQTISDEEIHDEPEERPAPPRFHTSTYDLPGPEGAGPFEASQPADSAVPATSGK
VYGTPETELTYPTNIVAAPLAEEEHVSSATSITECDKLSSFATSVAEDQSVASLTAPQTEETGKSSLLLDTVTSIPSSRTEATQGLDYVPSAGTISPTSS
LEEDKGFKSPPCEDFSVTGESEKRGEIIGKGLSGERAVEEEEEETANVEMSEKLCSQYGTPVFSAPGHALHPGEPALGEAEERCLSPDDSTVKMASPPPS
GPPSATHTPFHQSPVEEKSEPQDFQEADSWGDTKRTPGVGKEDAAEETVKPGPEEGTLEKEEKVPPPRSPQAQEAPVNIDEGLTGCTIQLLPAQDKAIVF
EIMEAGEPTGPILGAEALPGGLRTLPQEPGKPQKDEVLRYPDRSLSPEDAESLSVLSVPSPDTANQEPTPKSPCGLTEQYLHKDRWPEVSPEDTQSLSLS
EESPSKETSLDVSSKQLSPESLGTLQFGELNLGKEEMGHLMQAEDTSHHTAPMSVPEPHAATASPPTDGTTRYSAQTDITDDSLDRKSPASSFSHSTPSG
NGKYLPGAITSPDEHILTPDSSFSKSPESLPGPALEDIAIKWEDKVPGLKDRTSEQKKEPEPKDEVLQQKDKTLEHKEVVEPKDTAIYQKDEALHVKNEA
VKQQDKALEQKGRDLEQKDTALEQKDKALEPKDKDLEEKDKALEQKDKIPEEKDKALEQKDTALEQKDKALEPKDKDLEQKDRVLEQKEKIPEEKDKALD
QKVRSVEHKAPEDTVAEMKDRDLEQTDKAPEQKHQAQEQKDKVSEKKDQALEQKYWALGQKDEALEQNIQALEENHQTQEQESLVQEDKTRKPKMLEEKS
PEKVKAMEEKLEALLEKTKALGLEESLVQEGRAREQEEKYWRGQDVVQEWQETSPTREEPAGEQKELAPAWEDTSPEQDNRYWRGREDVALEQDTYWREL
SCERKVWFPHELDGQGARPHYTEERESTFLDEGPDDEQEVPLREHATRSPWASDFKDFQESSPQKGLEVERWLAESPVGLPPEEEDKLTRSPFEIISPPA
SPPEMVGQRVPSAPGQESPIPDPKLMPHMKNEPTTPSWLADIPPWVPKDRPLPPAPLSPAPGPPTPAPESHTPAPFSWGTAEYDSVVAAVQEGAAELEGG
PYSPLGKDYRKAEGEREEEGRAEAPDKSSHSSKVPEASKSHATTEPEQTEPEQREPTPYPDERSFQYADIYEQMMLTGLGPACPTREPPLGAAGDWPPCL
STKEAAAGRNTSAEKELSSPISPKSLQSDTPTFSYAALAGPTVPPRPEPGPSMEPSLTPPAVPPRAPILSKGPSPPLNGNILSCSPDRRSPSPKESGRSH
WDDSTSDSELEKGAREQPEKEAQSPSPPHPIPMGSPTLWPETEAHVSPPLDSHLGPARPSLDFPASAFGFSSLQPAPPQLPSPAEPRSAPCGSLAFSGDR
ALALAPGPPTRTRHDEYLEVTKAPSLDSSLPQLPSPSSPGAPLLSNLPRPASPALSEGSSSEATTPVISSVAERFSPSLEAAEQESGELDPGMEPAAHSL
WDLTPLSPAPPASLDLALAPAPSLPGDMGDGILPCHLECSEAATEKPSPFQVPSEDCAANGPTETSPNPPGPAPAKAENEEAAACPAWERGAWPEGAERS
SRPDTLLSPEQPVCPAGGSGGPPSSASPEVEAGPQGCATEPRPHRGELSPSFLNPPLPPSIDDRDLSTEEVRLVGRGGRRRVGGPGTTGGPCPVTDETPP
TSASDSGSSQSDSDVPPETEECPSITAEAALDSDEDGDFLPVDKAGGVSGTHHPRPGHDPPPLPQPDPRPSPPRPDVCMADPEGLSSESGRVERLREKEK
VQGRVGRRAPGKAKPASPARRLDLRGKRSPTPGKGPADRASRAPPRPRSTTSQVTPAEEKDGHSPMSKGLVNGLKAGPMALSSKGSSGAPVYVDLAYIPN
HCSGKTADLDFFRRVRASYYVVSGNDPANGEPSRAVLDALLEGKAQWGENLQVTLIPTHDTEVTREWYQQTHEQQQQLNVLVLASSSTVVMQDESFPACK
IEF*



SNP Information


Context              (SEQ ID NO:3959):
CTCCTACACCCCAGGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGT
W
CATCATCTTCTTAGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACT
Celera SNP ID:                hCV16139228
SNP Position Transcript:      153
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:445, None



Context              (SEQ ID NO:3960):
TGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGGAGGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAA
S
GCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAA
Celera SNP ID:                hCV16259588
SNP Position Transcript:      5256
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1605,(K,AAG) (N,AAC)



Context              (SEQ ID NO:3961):
GGATAAAACCAGGAAACCAAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCT
S
TGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATC
Celera SNP ID:                hCV25749830
SNP Position Transcript:      5302
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1621,(L,CTG) (V,GTG)



Context              (SEQ ID NO:3962):
TCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACC
R
TTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCT
Celera SNP ID:                hCV27486001
SNP Position Transcript:      3995
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1185,(R,CGT) (H,CAT)



Context              (SEQ ID NO:3963):
GCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCA
M
ACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAG
Celera SNP ID:                hCV8794965
SNP Position Transcript:      1448
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 336,(K,AAA) (T,ACA)



Context              (SEQ ID NO:3964):
ATATCCTGACCGAAGCCTCTCTCCTGAAGATGCAGAATCCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCT
Y
CCTGTGGCCTGACAGAACAGTACCTACACAAAGACCGTTGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAA
Celera SNP ID:                hCV25754152
SNP Position Transcript:      3958
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1173,(P,CCC) (S,TCC)



Context              (SEQ ID NO:3965):
GGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGG
Y
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
Celera SNP ID:                hCV16017461
SNP Position Transcript:      8347
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2636,(P,CCT) (S,TCT)



Context              (SEQ ID NO:3966):
GCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCA
R
CATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCA
Celera SNP ID:                hCV29187601
SNP Position Transcript:      3674
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1078,(N,AAC) (S,AGC)



Context              (SEQ ID NO:3967):
CCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCTGCGGCTTGCCCTGCCTGGGAACGTGGGGCCTGGCCTGAAGGAGCTGAGAGGAGCTCCCGGCCTGACA
Y
ATTGCTCTCCCCTGAGCAGCCAGTGTGTCCTGCAGGGGGCTCCGGGGGCCCACCCAGCAGTGCCTCTCCTGAGGTCGAAGCTGGGCCCCAGGGATGTGCC
Celera SNP ID:                hCV29187604
SNP Position Transcript:      7655
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,120|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2405,(T,ACA) (I,ATA)



Context              (SEQ ID NO:3968):
GTGGTACTCACCACCCCAGGCCTGGCCATGACCCACCTCCTCTCCCACAGCCAGACCCCCGCCCATCCCCTCCCCGCCCTGATGTGTGCATGGCTGACCC
Y
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Celera SNP ID:                hCV27490911
SNP Position Transcript:      8187
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,118|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2582,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3969):
ACCTTCAGGAAATGGGAAGTACTTACCTGGGGCGATCACAAGCCCTGATGAACACATTCTGACACCTGATAGCTCCTTCTCCAAGAGTCCTGAGTCTTTG
M
CAGGCCCTGCCTTGGAGGACATTGCCATAAAGTGGGAAGATAAAGTTCCAGGGTTGAAAGACAGAACCTCAGAACAGAAGAAGGAACCTGAGCCAAAGGA
Celera SNP ID:                hCV8794974
SNP Position Transcript:      4432
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1331,(P,CCA) (T,ACA)



Context              (SEQ ID NO:3970):
AGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTT
R
CCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAG
Celera SNP ID:                hCV8794976
SNP Position Transcript:      5443
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1668,(A,GCC) (T,ACC)



Context              (SEQ ID NO:3971):
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
R
GAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGG
Celera SNP ID:                hCV8794986
SNP Position Transcript:      5610
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1723,(E,GAG) (E,GAA)



Context              (SEQ ID NO:3972):
TAGCCCTCCCTTGGACTCACACCTGGGGCCTGCCCGACCCAGTCTGGACTTCCCTGCTTCAGCCTTTGGCTTCTCCTCATTGCAGCCAGCTCCCCCACAG
M
TGCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCG
Celera SNP ID:                hCV8794994
SNP Position Transcript:      6979
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2180,(L,CTG) (M,ATG)



Context              (SEQ ID NO:3973):
ACTCAGAGACTGAGCAGACCATCTCAGATGAGGAGATCCATGATGAGCCGGAGGAGCGCCCAGCTCCACCCAGATTTCATACAAGTACATATGACCTGCC
Y
GGGCCTGAAGGTGCTGGCCCATTCGAAGCCAGCCAACCTGCCGATAGTGCTGTTCCTGCTACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCA
Celera SNP ID:                hCV25760192
SNP Position Transcript:      2769
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,5)  african american(C,30|T,2)  total(C,45|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 776,(P,CCC) (P,CCT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,31|T,9)  african american(C,34|T,2)  total(C,65|T,11)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 776,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,26|T,8) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 776,(P,CCC) (P,CCT)



Context              (SEQ ID NO:3974):
ACAGAGACCTAGAACAGACAGACAAAGCCCCTGAACAGAAACACCAGGCCCAGGAACAAAAGGATAAAGTCTCAGAAAAGAAGGATCAGGCCTTAGAACA
M
AAATACTGGGCTTTGGGACAGAAGGATGAAGCCCTGGAACAAAACATTCAGGCTCTGGAAGAGAACCACCAAACTCAGGAGCAGGAGAGCCTAGTGCAGG
Celera SNP ID:                hCV16259604
SNP Position Transcript:      5100
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1553,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:3975):
GCCCTGATGTGTGCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCG
Y
AGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCAT
Celera SNP ID:                hCV26634551
SNP Position Transcript:      8262
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2607,(R,CGC) (R,CGT)



Context              (SEQ ID NO:3976):
GAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGGCCAAGCCAG
Y
GTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGC
Celera SNP ID:                hCV26634554
SNP Position Transcript:      8288
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2616,(A,GCG) (V,GTG)



Context              (SEQ ID NO:3977):
AGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATG
K
CCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGATGAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACC
Celera SNP ID:                hCV8794982
SNP Position Transcript:      5582
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1714,(G,GGC) (V,GTC)



Context              (SEQ ID NO:3978):
TCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGT
R
CAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGG
Celera SNP ID:                hCV8794987
SNP Position Transcript:      6111
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1890,(V,GTG) (V,GTA)



Context              (SEQ ID NO:3979):
CCCTCTCTGTCCTCAGCGTGCCCTCCCCAGACACTGCCAACCAAGAGCCTACCCCCAAGTCTCCCTGTGGCCTGACAGAACAGTACCTACACAAAGACCG
K
TGGCCAGAGGTATCTCCAGAAGACACCCAGTCACTTTCTCTGTCAGAAGAGAGTCCCAGCAAGGAGACCTCCCTGGATGTCTCTTCTAAGCAGCTCTCTC
Celera SNP ID:                hCV16259587
SNP Position Transcript:      3996
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1185,(R,CGT) (R,CGG)



Context              (SEQ ID NO:3980):
AAAGATGCTAGAGGAAAAATCCCCAGAAAAGGTCAAGGCCATGGAAGAGAAGTTAGAAGCTCTTCTGGAGAAGACCAAAGCTCTGGGCCTGGAAGAGAGC
Y
TAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCC
Celera SNP ID:                hCV26634549
SNP Position Transcript:      5320
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1627,(L,CTA) (L,TTA)



Context              (SEQ ID NO:3981):
CCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGG
M
ATCCCATACTCCTGCACCCTTCTCTTGGGGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATAC
Celera SNP ID:                hCV26634550
SNP Position Transcript:      6047
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1869,(E,GAA) (A,GCA)



Context              (SEQ ID NO:3982):
TCAAGCCAGGGCCTGAAGAGGGCACACTAGAGAAGGAAGAGAAAGTTCCTCCTCCCAGGAGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGG
R
CTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGATTATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAG
Celera SNP ID:                hCV3014559
SNP Position Transcript:      3687
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,126|A,58) ; no_pop(G,26|A,16) ; no_pop(G,-|A,-) ; no_pop(G,16
4|A,76)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1082,(G,GGG) (G,GGA)



Context              (SEQ ID NO:3983):
CAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTA
K
CCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGC
Celera SNP ID:                hCV8794967
SNP Position Transcript:      1510
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 357,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3984):
GCCTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTG
S
AGTGGCAAGACTGCTGACCTTGACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTG
Celera SNP ID:                hCV8795005
SNP Position Transcript:      8547
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2702,(C,TGC) (W,TGG)



Context              (SEQ ID NO:3985):
CGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCA
M
AAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGAGGCACTGAAGGCAGAGAAGCGAAAGCTGATCAA
Celera SNP ID:                hCV16256715
SNP Position Transcript:      1531
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 364,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:3986):
CAGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTT
Y
CAGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACAC
Celera SNP ID:                hCV16259595
SNP Position Transcript:      3513
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1024,(F,TTT) (F,TTC)



Context              (SEQ ID NO:3987):
AGTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTT
M
AGGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACT
Celera SNP ID:                hCV12075424
SNP Position Transcript:      3514
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1025,(Q,CAG) (K,AAG)



Context              (SEQ ID NO:3988):
TTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAGACATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCC
Y
CTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAATGGCCCAACTGAAACCAGCCCTAACCCCCCAGGCCCTGCCCCAGCCAAGGCTGAAAATGAAGAGGCT
Celera SNP ID:                hCV25755903
SNP Position Transcript:      7487
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,2)  african american(C,33|T,1)  total(C,69|T,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2349,(P,CCC) (L,CTC)



Context              (SEQ ID NO:3989):
TACCTCTGGCAAAGTCTATGGAACGCCAGAGACTGAACTCACCTACCCCACTAACATAGTGGCTGCCCCTTTGGCTGAAGAGGAACATGTGTCCTCGGCC
R
CTTCAATCACTGAGTGTGACAAACTTTCTTCCTTTGCCACATCAGTGGCTGAGGACCAATCTGTGGCCTCACTTACAGCTCCCCAGACAGAGGAGACAGG
Celera SNP ID:                hCV27503543
SNP Position Transcript:      2929
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 830,(T,ACT) (A,GCT)



Context              (SEQ ID NO:3990):
GCATGGCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGG
Y
AAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCAC
Celera SNP ID:                hCV26634552
SNP Position Transcript:      8274
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2611,(G,GGC) (G,GGT)



Context              (SEQ ID NO:3991):
CAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTGGCCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTG
K
CCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGAGAAGCCCCCAGAGAAGCCTGCCAAGCCTGAGAGGGTGAAGACAGAGTCAAGTGA
Celera SNP ID:                hCV8794966
SNP Position Transcript:      1498
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 353,(A,GCC) (S,TCC)



Context              (SEQ ID NO:3992):
AGACCAAAGCTCTGGGCCTGGAAGAGAGCCTAGTGCAGGAGGGCAGGGCCAGAGAGCAGGAAGAAAAGTACTGGAGGGGGCAGGATGTGGTCCAGGAGTG
K
CAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGA
Celera SNP ID:                hCV8794975
SNP Position Transcript:      5391
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1650,(W,TGG) (C,TGT)



Context              (SEQ ID NO:3993):
CAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCAGTGGCAAGACTGCTGACCT
W
GACTTCTTCCGTCGAGTGCGTGCATCCTACTATGTGGTCAGTGGGAATGACCCTGCCAATGGCGAGCCAAGCCGGGCTGTGCTGGATGCCCTGCTGGAGG
Celera SNP ID:                hCV8795006
SNP Position Transcript:      8568
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|A,-) ; no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2709,(L,CTT) (L,CTA)



Context              (SEQ ID NO:3994):
AGGGCCAGAGGACCCTTTGCCACCAGAGTGAGATCCTAGAGACCATCATCCTGGTAAATCCCAGTGCAGACAGCATCAGCTCTGAGGTTCATCATCTTCT
K
AGCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACT
Celera SNP ID:                hCV16259592
SNP Position Transcript:      165
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:445, None



Context              (SEQ ID NO:3995):
GCAGCTCATCAGCTTATAAACTACTAATCTTGAGTGGGCAAAGTTTAGAGCCTGGGGGAGACCTCATCCTACAGAGTGGCACCTACTCATATGAAAACTT
K
GCCCAGGTCCTTCACAACCCCGAGATTTCCCAATTGCTCAGCAATAGAGACCCTGGGATACAGGCCTTCCTTACCGTGTCCTGCTTAGGGGAAGGTGATT
Celera SNP ID:                hCV16259593
SNP Position Transcript:      267
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:445, None



Context              (SEQ ID NO:3996):
GACAAGGTAGGGAAAAAGCACCTTAAAGAAAAGATATCAAAGCTGGAAGAAAAAAAAGACAAGGAGAAAAAAGAGATCAAAAAGGAGAGGAAAGAGCTCA
R
GAAGGATGAAGGAAGGAAGGAGGAGAAGAAGGATGCCAAGAAGGAGGAGAAGAGGAAAGATACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTA
Celera SNP ID:                hCV25750075
SNP Position Transcript:      1733
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,39|G,1)  african american(A,32|G,0)  total(A,71|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 431,(K,AAG) (R,AGG)



Context              (SEQ ID NO:3997):
CTGGGGCCCCTCTCCTCTCCAATCTGCCACGACCTGCCTCACCAGCCCTGTCTGAGGGCTCCTCCTCTGAGGCTACCACGCCTGTGATTTCAAGTGTGGC
R
GAGCGCTTCTCTCCAAGCCTTGAGGCTGCAGAACAGGAGTCTGGAGAGCTGGACCCAGGAATGGAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTC
Celera SNP ID:                hCV25757513
SNP Position Transcript:      7257
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,37)  african american(A,0|G,34)  total(A,1|G,71)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2272,(A,GCG) (A,GCA)



Context              (SEQ ID NO:3998):
GCTGACCCCGAGGGGCTCAGCTCAGAGTCTGGGAGAGTAGAGAGGCTACGGGAGAAGGAAAAGGTTCAGGGGCGAGTAGGGCGCAGGGCCCCAGGCAAGG
M
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Celera SNP ID:                hCV26634553
SNP Position Transcript:      8279
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2613,(A,GCC) (D,GAC)



Context              (SEQ ID NO:3999):
CAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAATAGGTATTGGAGGGGCAGAGAGGATGTG
K
CCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGA
Celera SNP ID:                hCV8794981
SNP Position Transcript:      5509
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,10|G,4)  african american(C,2|G,30)  total(C,12|G,34)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1690,(A,GCC) (S,TCC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,184) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1690,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4000):
AGAGAAGGAGCTTTCATCTCCTATCTCACCCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGG
M
CAGAGCCAGGGCCAAGTATGGAGCCCAGCCTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAA
Celera SNP ID:                hCV8794988
SNP Position Transcript:      6580
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2047,(P,CCA) (T,ACA)



Context              (SEQ ID NO:4001):
GCCCTCTCCAGCTGAACCCCGCTCGGCACCCTGTGGCTCCCTTGCCTTCTCTGGGGATCGAGCTCTGGCTCTGGCTCCAGGACCCCCCACCAGAACCCGG
Y
ATGATGAATACCTGGAAGTGACCAAGGCCCCCAGCCTGGATTCCTCACTGCCCCAGCTCCCATCACCCAGTTCTCCTGGGGCCCCTCTCCTCTCCAATCT
Celera SNP ID:                hCV8794995
SNP Position Transcript:      7081
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2214,(H,CAT) (Y,TAT)



Context              (SEQ ID NO:4002):
GTTGCTACATCTTCCCAGGTGGTCGTGGGGACTCTGCCCTCTTTGCTGTCAATGGTTTCAACATCCTGGTGGATGGTGGCTCTGATCGCAAGTCCTGTTT
K
TGGAAGCTGGTACGGCACTTGGACCGCATTGACTCGGTGCTACTCACACACATTGGGGCAGACAACCTGCCAGGCATCAATGGACTACTGCAGCGCAAAG
Celera SNP ID:                hCV16259562
SNP Position Transcript:      657
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 72,(F,TTT) (L,TTG)



Context              (SEQ ID NO:4003):
TGTCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAG
R
ATACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGA
Celera SNP ID:                hCV11755243
SNP Position Transcript:      4174
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,1|G,33)  total(A,9|G,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1245,(D,GAT) (N,AAT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,24|A,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1245,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4004):
TCTCTTCTAAGCAGCTCTCTCCAGAAAGCCTTGGCACCCTCCAGTTTGGGGAACTAAACCTTGGGAAGGAAGAAATGGGGCATCTGATGCAGGCCGAGGA
Y
ACCTCTCACCACACAGCTCCCATGTCTGTTCCAGAGCCCCATGCAGCCACAGCGTCACCTCCCACAGATGGGACAACTCGATACTCTGCACAGACAGACA
Celera SNP ID:                hCV11755244
SNP Position Transcript:      4176
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,1902|C,1282) ; no_pop(T,20|C,14) ; no_pop(T,-|C,-) ; no_pop(T
,162|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1245,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4005):
TGAGATCATCTCCCCTCCAGCTTCCCCACCTGAGATGGTTGGACAAAGGGTTCCTTCAGCCCCAGGACAAGAGAGTCCTATCCCAGACCCTAAGCTCATG
S
CACACATGAAGAATGAACCCACTACTCCCTCATGGCTGGCTGACATCCCACCCTGGGTGCCCAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGC
Celera SNP ID:                hCV16171915
SNP Position Transcript:      5920
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,6|C,234
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1827,(P,CCA) (A,GCA)



Context              (SEQ ID NO:4006):
CAAGGACAGACCCCTCCCCCCTGCACCCCTCTCCCCAGCTCCTGGTCCCCCCACACCTGCCCCGGAATCCCATACTCCTGCACCCTTCTCTTGGGGCACA
S
CCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGGCTGAAGG
Celera SNP ID:                hCV12075429
SNP Position Transcript:      6082
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,92|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1881,(A,GCC) (P,CCC)



Context              (SEQ ID NO:4007):
TGGGGAAGGACTACCGCAAGGCTGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAG
S
AAAAGCCATGCCACCACGGAGCCTGAGCAGACTGAGCCGGAGCAGAGAGAGCCCACACCCTATCCTGATGAGAGAAGCTTTCAGTATGCAGACATCTATG
Celera SNP ID:                hCV16259606
SNP Position Transcript:      6255
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1938,(S,AGC) (R,AGG)



Context              (SEQ ID NO:4008):
CGCAGGGCCCCAGGCAAGGCCAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAG
Y
ATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGA
Celera SNP ID:                hCV16017472
SNP Position Transcript:      8360
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2640,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4009):
CCCGTACTGAAGCTACGCAGGGCTTGGACTATGTGCCATCAGCTGGTACCATCTCACCCACCTCCTCACTGGAAGAAGACAAGGGCTTCAAATCACCACC
M
TGTGAGGACTTCTCTGTGACTGGGGAGTCAGAGAAGAGAGGAGAGATCATAGGGAAAGGCTTGTCTGGAGAGAGAGCTGTGGAAGAGGAAGAGGAGGAGA
Celera SNP ID:                hCV25758645
SNP Position Transcript:      3174
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,32)  african american(A,1|C,29)  total(A,1|C,61)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 911,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4010):
GTGGTCCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGG
M
CAATAGGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTG
Celera SNP ID:                hCV25753227
SNP Position Transcript:      5477
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,11)  african american(A,30|C,0)  total(A,33|C,11)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1679,(D,GAC) (A,GCC)



Context              (SEQ ID NO:4011):
GGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGGCCAGGGGGCCCGCCCACACTACACTGAGGAACGGGAAAGCACTTTCCTAGA
K
GAGGGCCCAGATGATGAGCAAGAAGTACCCCTGCGGGAACACGCAACCCGGAGCCCCTGGGCCTCAGACTTCAAGGATTTCCAGGAATCCTCACCACAGA
Celera SNP ID:                hCV25759354
SNP Position Transcript:      5634
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,30)  african american(G,1|T,33)  total(G,1|T,63)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1731,(D,GAT) (E,GAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|T,40)  african american(G,1|T,35)  total(G,1|T,75)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1731,(D,GAT) (E,GAG)



Context              (SEQ ID NO:4012):
AGCCCCCAGGCCCAGGAAGCACCTGTCAACATTGATGAGGGGCTTACAGGCTGTACCATTCAACTGTTGCCAGCACAGGATAAAGCAATAGTCTTTGAGA
Y
TATGGAGGCAGGAGAGCCCACAGGCCCAATTCTGGGAGCAGAAGCCCTTCCCGGAGGTTTGAGGACTTTACCCCAAGAACCTGGCAAACCTCAGAAAGAT
Celera SNP ID:                hCV29187602
SNP Position Transcript:      3746
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1102,(I,ATT) (T,ACT)



Context              (SEQ ID NO:4013):
GAACCAGCTGCCCACAGCCTCTGGGACCTCACTCCTCTGAGCCCAGCACCCCCAGCTTCACTGGACTTGGCCCTAGCTCCAGCTCCAAGCCTGCCTGGAG
W
CATGGGTGATGGCATCCTGCCGTGCCACCTGGAGTGCTCAGAGGCAGCCACGGAGAAGCCAAGCCCCTTCCAGGTTCCCTCTGAGGATTGTGCAGCCAAT
Celera SNP ID:                hCV29187603
SNP Position Transcript:      7421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2327,(D,GAC) (V,GTC)



Context              (SEQ ID NO:4014):
CCAGGAGTGGCAAGAAACATCTCCTACCAGAGAGGAGCCGGCTGGAGAACAGAAAGAGCTTGCCCCGGCATGGGAGGACACATCTCCTGAGCAGGACAAT
M
GGTATTGGAGGGGCAGAGAGGATGTGGCCTTGGAACAGGACACATACTGGAGGGAGCTAAGCTGTGAGCGGAAGGTCTGGTTCCCTCACGAGCTGGATGG
Celera SNP ID:                hCV8794980
SNP Position Transcript:      5482
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 1681,(R,AGG) (R,CGG)



Context              (SEQ ID NO:4015):
CCAAGAGCCTCCAGTCTGACACTCCAACCTTCAGCTATGCAGCCCTGGCAGGACCCACTGTACCCCCAAGGCCAGAGCCAGGGCCAAGTATGGAGCCCAG
M
CTCACCCCACCTGCAGTTCCCCCCCGTGCTCCTATCCTGAGCAAAGGCCCAAGCCCCCCTCTTAATGGTAACATCCTGAGCTGCAGCCCAGATAGGAGGT
Celera SNP ID:                hCV8794993
SNP Position Transcript:      6609
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2056,(S,AGC) (R,AGA)



Context              (SEQ ID NO:4016):
TACCAAACCTGAGCTCAAGAAGATTTCCAAGCCAGACCTAAAGCCCTTTACTCCTGAGGTACGTAAGACCCTCTATAAAGCCAAGGTCCCTGGAAGAGTC
M
AAATAGACAGGAGCCGTGCTATCCGTGGGGAGAAGGAGCTGTCTTCTGAGCCCCAGACACCCCCAGCCCAGAAGGGAACTGTACCACTCCCAACCATCAG
Celera SNP ID:                hCV16259594
SNP Position Transcript:      1894
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 485,(K,AAA) (Q,CAA)



Context              (SEQ ID NO:4017):
GGCCCTGGAACCAAAAGACAAAGACTTAGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAG
R
ATACAGCCCTGGAACAGAAGGACAAGGCCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGA
Celera SNP ID:                hCV16259603
SNP Position Transcript:      4822
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,867|A,623) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1461,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4018):
AGAAGAAAAAGACAAGGCCCTGGAACAGAAGGATAAGATTCCAGAAGAGAAAGACAAAGCCTTAGAACAAAAGGATACAGCCCTGGAACAGAAGGACAAG
R
CCCTGGAACCAAAAGATAAAGACTTGGAACAAAAGGACAGGGTCCTAGAACAGAAGGAGAAGATCCCAGAAGAGAAAGACAAAGCCTTAGATCAAAAAGT
Celera SNP ID:                hCV11755246
SNP Position Transcript:      4849
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(G,30|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1470,(A,GCC) (T,ACC)



Context              (SEQ ID NO:4019):
GGCACAGCCGAGTATGACAGTGTGGTGGCTGCAGTGCAGGAGGGGGCAGCTGAGTTGGAAGGTGGGCCATACTCCCCCCTGGGGAAGGACTACCGCAAGG
Y
TGAAGGGGAAAGGGAAGAAGAAGGTAGGGCTGAGGCTCCTGACAAAAGCTCACACAGCTCAAAGGTACCAGAGGCCAGCAAAAGCCATGCCACCACGGAG
Celera SNP ID:                hCV16259605
SNP Position Transcript:      6176
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1912,(A,GCT) (V,GTT)



Context              (SEQ ID NO:4020):
CAGCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAG
S
CAGAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGA
Celera SNP ID:                hCV16256745
SNP Position Transcript:      6793
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2118,(P,CCA) (A,GCA)



Context              (SEQ ID NO:4021):
CAAGCCAGCGTCCCCTGCACGGCGTCTGGATCTTCGGGGAAAACGCTCACCCACCCCTGGTAAAGGGCCTGCAGATCGAGCATCCCGGGCCCCACCTCGA
Y
CACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGGCCTAGTCAATGGACTCAAGGCAGGACCAATGGC
Celera SNP ID:                hCV16259589
SNP Position Transcript:      8380
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 2647,(P,CCA) (S,TCA)



Context              (SEQ ID NO:4022):
GCCCAGATAGGAGGTCCCCATCCCCCAAGGAATCAGGCCGGAGTCACTGGGATGACAGCACTAGTGACTCAGAACTGGAGAAGGGGGCTCGGGAACAGCC
M
GAAAAAGAGGCCCAATCCCCAAGTCCTCCTCACCCCATTCCTATGGGGTCCCCCACATTATGGCCAGAAACTGAGGCACATGTTAGCCCTCCCTTGGACT
Celera SNP ID:                hCV25755928
SNP Position Transcript:      6795
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,34|C,0)  african american(A,37|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2118,(P,CCA) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|C,0)  african american(A,33|C,1)  total(A,71|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2118,(P,CCA) (P,CCC)



Context              (SEQ ID NO:4023):
TGGGGCTGTGCCTACCAACCTCAAGCCCAGCAAAATCAAACAGCGGGCTGATAGCAAGGAGAGCCTCAAAGCCACTACCAAGACGGCCGTGAGCAAGTTG
K
CCAAACGGGAGGAGGTGGTAGAAGAGGGAGCCAAGGAGGCACGTTCAGAGCTGGCCAAGGAGTTAGCCAAGACAGAGAAGAAGGCAAAAGAGTCATCTGA
Celera SNP ID:                hCV8794958
SNP Position Transcript:      1444
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 335,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4024):
GTGAAGATGGCTTCTCCTCCACCATCTGGCCCACCCAGTGCCACCCACACACCCTTTCATCAGTCCCCAGTGGAAGAAAAGTCTGAGCCCCAAGACTTTC
M
GGAGGCAGACTCCTGGGGAGACACTAAGCGCACACCAGGTGTGGGCAAAGAAGATGCTGCTGAGGAGACAGTCAAGCCAGGGCCTGAAGAGGGCACACTA
Celera SNP ID:                hCV32344161
SNP Position Transcript:      3515
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:445, 1025,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:4025):
CTGCAGATCGAGCATCCCGGGCCCCACCTCGACCACGCAGCACCACAAGCCAGGTCACCCCAGCAGAGGAAAAGGATGGACACAGCCCCATGTCCAAAGG
M
CTAGTCAATGGACTCAAGGCAGGACCAATGGCCTTGAGTTCCAAGGGCAGCTCTGGTGCCCCTGTATATGTGGATCTCGCCTACATCCCGAATCATTGCA
Celera SNP ID:                hCV32344162
SNP Position Transcript:      8448
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:445, 2669,(G,GGA) (G,GGC)



Context              (SEQ ID NO:4026):
CTTGGGCTGGGCTAAATGGGAGGGGTTGTCCCTCCCCATCATCCATTCCTGTGAGGTGTCTCAAACCAAAGTTAACAGGGAGAGGATGGGGGAGGGGACA
M
ATTAGAATAGGATAGCATCTGATGCCTGAGAACCCTCTCCTAGCACTGTCAAATGCTGGTATTGAATGGGGACTGAGGATGGGTCTCAGAGAGCAACCTC
Celera SNP ID:                hCV16256749
SNP Position Transcript:      9082
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:445, None



Context              (SEQ ID NO:4027):
GGATGGGTCTCAGAGAGCAACCTCCTCCCTCGTAGAGGGAGATTATATCCCCAACTCCAGGGACCTCTTTATCTCAATCTATTTATTTGGCATCCTGGGA
R
GGATTTCCAATAGTAATTTATGTGACCTGGGGCAGGATACCGTCAGTGAGGTGCCCAGAGCTGCACCCTTTCCTCCATTTCCCATCCCCCATCTCCTCAA
Celera SNP ID:                hCV637112
SNP Position Transcript:      9259
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,71|G,21) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:445, None



Context              (SEQ ID NO:4028):
AAACCCGCTCTTGGACAGAGGATCTGGGAGGTGGAAGCCAGGCCAGAGGACTTGGGGAAAATGAGATGGAGGAAGGAAAAAGGGAGAAGCTGAGCCACAG
S
TTAACTCCTACAGAGTGAAATGAAAACGGGCTGAAAATACCACCCCAGGAGAGGACCTCGCCCCAAGCAAGCCAGTGAGCAGCCCTGCCAGACTACTGCC
Celera SNP ID:                hCV16256750
SNP Position Transcript:      9932
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:445, None



Gene Number:                  74
Celera Gene:                  hCG39713 - 62000133338293
Celera Transcript:            hCT30965 - 62000133338294
Public Transcript Accession:  NM_005657
Celera Protein:               hCP49499 - 197000064936462
Public Protein Accession:     NP_005648
Gene Symbol:                  TP53BP1
Protein Name:                  tumor protein p53 binding protein, 1
Celera Genomic Axis:          GA_x5YUV32W323(10746824..10862177)
Chromosome:                   15
OMIM NUMBER:                  605230
OMIM Information:


Transcript Sequence  (SEQ ID NO:185):
CGTTGTTTGGCGTGTTTTTTTTTTTTTTTGTTTTTTGTCACTGCCTGCCTGGGTCCTGCCCGAGGTCTCCATCCTCGGTTTCCCTGTCCTTGCCCCGGGC
CCTGGGAGTGCTCTGGAAGGCTGCGCAGTATTGGAGGGGACAGAATGACCTTCCGGCCTTGAGTCCCTGGGGAGCAGATGGACCCTACTGGAAGTCAGTT
GGATTCAGATTTCTCTCAGCAAGATACTCCTTGCCTGATAATTGAAGATTCTCAGCCTGAAAGCCAGGTTCTAGAGGATGATTCTGGTTCTCACTTCAGT
ATGCTATCTCGACACCTTCCTAATCTCCAGACGCACAAAGAAAATCCTGTGTTGGATGTTGTGTCCAATCCTGAACAAACAGCTGGAGAAGAACGAGGAG
ACGGTAATAGTGGGTTCAATGAACATTTGAAAGAAAACAAGGTTGCAGACCCTGTGGATTCTTCTAACTTGGACACATGTGGTTCCATCAGTCAGGTCAT
TGAGCAGTTACCTCAGCCAAACAGGACAAGCAGTGTTCTGGGAATGTCAGTGGAATCTGCTCCTGCTGTGGAGGAAGAGAAGGGAGAAGAGTTGGAACAG
AAGGAGAAAGAGAAGGAAGAAGATACTTCAGGCAATACTACACATTCCCTTGGTGCTGAAGATACTGCCTCATCACAGTTGGGTTTTGGGGTTCTGGAAC
TCTCCCAGAGCCAGGATGTTGAGGAAAATACTGTGCCATATGAAGTGGACAAAGAGCAGCTACAATCAGTAACCACCAACTCTGGTTATACCAGGCTGTC
TGATGTGGATGCTAATACTGCAATTAAGCATGAAGAACAGTCCAACGAAGATATCCCCATAGCAGAACAGTCCAGCAAGGACATCCCTGTGACAGCACAG
CCCAGTAAGGATGTACATGTTGTAAAAGAGCAAAATCCACCACCTGCAAGGTCAGAGGACATGCCTTTTAGCCCCAAAGCATCTGTTGCTGCTATGGAAG
CAAAAGAACAGTTGTCTGCACAAGAACTTATGGAAAGTGGACTGCAGATTCAGAAGTCACCAGAGCCTGAGGTTTTGTCAACTCAGGAAGACTTGTTTGA
CCAGAGCAATAAAACAGTATCTTCTGATGGTTGCTCTACTCCTTCAAGGGAGGAAGGTGGGTGTTCTTTGGCTTCCACTCCTGCCACCACTCTGCATCTC
CTGCAGCTCTCTGGTCAGAGGTCCCTTGTTCAGGACAGTCTTTCCACGAATTCTTCAGATCTTGTTGCTCCTTCTCCTGATGCTTTCCGATCTACTCCTT
TTATCGTTCCTAGCAGTCCCACAGAGCAAGAAGGGAGACAAGATAAGCCAATGGACACGTCAGTGTTATCTGAAGAAGGAGGAGAGCCTTTTCAGAAGAA
ACTTCAAAGTGGTGAACCAGTGGAGTTAGAAAACCCCCCTCTCCTGCCTGAGTCCACTGTATCACCACAAGCCTCAACACCAATATCTCAGAGCACACCA
GTCTTCCCTCCTGGGTCACTTCCTATCCCATCCCAGCCTCAGTTTTCTCATGACATTTTTATTCCTTCCCCAAGTCTGGAAGAACAATCAAATGATGGGA
AGAAAGATGGAGATATGCATAGTTCATCTTTGACAGTTGAGTGTTCTAAAACTTCAGAGATTGAACCAAAGAATTCCCCTGAGGATCTTGGGCTATCTTT
GACAGGGGATTCTTGCAAGTTGATGCTTTCTACAAGTGAATATAGTCAGTCCCCAAAGATGGAGAGCTTGAGTTCTCACAGAATTGATGAAGATGGAGAA
AACACACAGATTGAGGATACGGAACCCATGTCTCCAGTTCTCAATTCTAAATTTGTTCCTGCTGAAAATGATAGTATCCTGATGAATCCAGCACAGGATG
GTGAAGTACAACTGAGTCAGAATGATGACAAAACAAAGGGAGATGATACAGACACCAGGGATGACATTAGTATTTTAGCCACTGGTTGCAAGGGCAGAGA
AGAAACGGTAGCAGAAGATGTTTGTATTGATCTCACTTGTGATTCGGGGAGTCAGGCAGTTCCGTCACCAGCTACTCGATCTGAGGCACTTTCTAGTGTG
TTAGATCAGGAGGAAGCTATGGAAATTAAAGAACACCATCCAGAGGAGGGGTCTTCAGGGTCTGAGGTGGAAGAAATCCCTGAGACACCTTGTGAAAGTC
AAGGAGAGGAACTCAAAGAAGAAAATATGGAGAGTGTTCCGTTGCACCTTTCTCTGACTGAAACTCAGTCCCAAGGGTTGTGTCTTCAAAAGGAAATGCC
AAAAAAAGAATGCTCAGAAGCTATGGAAGTTGAAACCAGTGTGATTAGTATTGATTCCCCTCAAAAGTTGGCAATACTTGACCAAGAATTGGAACATAAG
GAACAGGAAGCTTGGGAAGAAGCTACTTCAGAGGACTCCAGTGTTGTCATTGTAGATGTGAAAGAGCCATCTCCCAGAGTTGATGTTTCTTGTGAACCTT
TGGAGGGAGTGGAGAAGTGCTCAGATTCCCAGTCATGGGAGGATATTGCTCCAGAAATAGAACCATGTGCTGAGAATAGATTAGACACCAAGGAAGAAAA
GAGTGTAGAATATGAAGGAGATCTGAAATCAGGGACTGCAGAAACAGAACCTGTAGAGCAAGATTCTTCACAGCCTTCCTTACCTTTAGTGAGAGCAGAT
GATCCTTTAAGACTTGACCAGGAGTTGCAGCAGCCCCAAACTCAGGAGAAAACAAGTAATTCATTAACAGAAGACTCAAAAATGGCTAATGCAAAGCAGC
TAAGCTCAGATGCAGAGGCCCAGAAGCTGGGGAAGCCCTCTGCCCATGCCTCACAAAGCTTCTGTGAAAGTTCTAGTGAAACCCCATTTCATTTCACTTT
GCCTAAAGAAGGTGATATCATCCCACCATTGACTGGTGCAACCCCACCTCTTATTGGGCACCTAAAATTGGAGCCCAAGAGACACAGTACTCCTATTGGT
ATTAGCAACTATCCAGAAAGCACCATAGCAACCAGTGATGTCATGTCTGAAAGCATGGTGGAGACCCATGATCCCATACTTGGGAGTGGAAAAGGGGATT
CTGGGGCTGCCCCAGACGTGGATGATAAATTATGTCTAAGAATGAAACTGGTTAGTCCTGAGACTGAGGCGAGTGAAGAGTCTTTGCAGTTCAACCTGGA
AAAGCCTGCAACTGGTGAAAGAAAAAATGGATCTACTGCTGTTGCTGAGTCTGTTGCCAGTCCCCAGAAGACCATGTCTGTGTTGAGCTGTATCTGTGAA
GCCAGGCAAGAGAATGAGGCTCGAAGTGAGGATCCCCCCACCACACCCATCAGGGGGAACTTGCTCCACTTTCCAAGTTCTCAAGGAGAAGAGGAGAAAG
AAAAATTGGAGGGTGACCATACAATCAGGCAGAGTCAACAGCCTATGAAGCCCATTAGTCCTGTCAAGGACCCTGTTTCTCCTGCTTCCCAGAAGATGGT
CATACAAGGGCCATCCAGTCCTCAAGGAGAGGCAATGGTGACAGATGTGCTAGAAGACCAGAAAGAAGGACGGAGTACTAATAAGGAAAATCCTAGTAAG
GCCTTGATTGAAAGGCCCAGCCAAAATAACATAGGAATCCAAACCATGGAGTGTTCCTTGAGGGTCCCAGAAACTGTTTCAGCAGCAACCCAGACTATAA
AGAATGTGTGTGAGCAGGGGACCAGTACAGTGGACCAGAACTTTGGAAAGCAAGATGCCACAGTTCAGACTGAGAGGGGGAGTGGTGAGAAACCAGTCAG
TGCTCCTGGGGATGATACAGAGTCGCTCCATAGCCAGGGAGAAGAAGAGTTTGATATGCCTCAGCCTCCACATGGCCATGTCTTACATCGTCACATGAGA
ACAATCCGGGAAGTACGCACACTTGTCACTCGTGTCATTACAGATGTGTATTATGTGGATGGAACAGAAGTAGAAAGAAAAGTAACTGAGGAGACTGAAG
AGCCAATTGTAGAGTGTCAGGAGTGTGAAACTGAAGTTTCCCCTTCACAGACTGGGGGCTCCTCAGGTGACCTGGGGGATATCAGCTCCTTCTCCTCCAA
GGCATCCAGCTTACACCGCACATCAAGTGGGACAAGTCTCTCAGCTATGCACAGCAGTGGAAGCTCAGGGAAAGGAGCCGGACCACTCAGAGGGAAAACC
AGCGGGACAGAACCCGCAGATTTTGCCTTACCCAGCTCCCGAGGAGGCCCAGGAAAACTGAGTCCTAGAAAAGGGGTCAGTCAGACAGGGACGCCAGTGT
GTGAGGAGGATGGTGATGCAGGCCTTGGCATCAGACAGGGAGGGAAGGCTCCAGTCACGCCTCGTGGGCGTGGGCGAAGGGGCCGCCCACCTTCTCGGAC
CACTGGAACCAGAGAAACAGCTGTGCCTGGCCCCTTGGGCATAGAGGACATTTCACCTAACTTGTCACCAGATGATAAATCCTTCAGCCGTGTCGTGCCC
CGAGTGCCAGACTCCACCAGACGAACAGATGTGGGTGCTGGTGCTTTGCGTCGTAGTGACTCTCCAGAAATTCCTTTCCAGGCTGCTGCTGGCCCTTCTG
ATGGCTTAGATGCCTCCTCTCCAGGAAATAGCTTTGTAGGGCTCCGTGTTGTAGCCAAGTGGTCATCCAATGGCTACTTTTACTCTGGGAAAATCACACG
AGATGTCGGAGCTGGGAAGTATAAATTGCTCTTTGATGATGGGTACGAATGTGATGTGTTGGGCAAAGACATTCTGTTATGTGACCCCATCCCGCTGGAC
ACTGAAGTGACGGCCCTCTCGGAGGATGAGTATTTCAGTGCAGGAGTGGTGAAAGGACATAGGAAGGAGTCTGGGGAACTGTACTACAGCATTGAAAAAG
AAGGCCAAAGAAAGTGGTATAAGCGAATGGCTGTCATCCTGTCCTTGGAGCAAGGAAACAGACTGAGAGAGCAGTATGGGCTTGGCCCCTATGAAGCAGT
AACACCTCTTACAAAGGCAGCAGATATCAGCTTAGACAATTTGGTGGAAGGGAAGCGGAAACGGCGCAGTAACGTCAGCTCCCCAGCCACCCCTACTGCC
TCCAGTAGCAGCAGCACAACCCCTACCCGAAAGATCACAGAAAGTCCTCGTGCCTCCATGGGAGTTCTCTCAGGCAAAAGAAAACTTATCACTTCTGAAG
AGGAACGGTCCCCTGCCAAGCGAGGTCGCAAGTCTGCCACAGTAAAACCTGGTGCAGTAGGGGCAGGAGAGTTTGTGAGCCCCTGTGAGAGTGGAGACAA
CACCGGTGAACCCTCTGCCCTGGAAGAGCAGAGAGGGCCTTTGCCTCTCAACAAGACCTTGTTTCTGGGCTACGCATTTCTCCTTACCATGGCCACAACC
AGTGACAAGTTGGCCAGCCGCTCCAAACTGCCAGATGGTCCTACAGGAAGCAGTGAAGAAGAGGAGGAATTTTTGGAAATTCCTCCTTTCAACAAGCAGT
ATACAGAATCCCAGCTTCGAGCAGGAGCTGGCTATATCCTTGAAGATTTCAATGAAGCCCAGTGTAACACAGCTTACCAGTGTCTTCTAATTGCGGATCA
GCATTGTCGAACCCGGAAGTACTTCCTGTGCCTTGCCAGTGGGATTCCTTGTGTGTCTCATGTCTGGGTCCATGATAGTTGCCATGCCAACCAGCTCCAG
AACTACCGTAATTATCTGTTGCCAGCTGGGTACAGCCTTGAGGAGCAAAGAATTCTGGACTGGCAACCCCGTGAAAATCCTTTCCAGAATCTGAAGGTAC
TCTTGGTATCAGACCAACAGCAGAACTTCCTGGAGCTCTGGTCTGAGATCCTCATGACTGGTGGTGCAGCCTCTGTGAAGCAGCACCATTCAAGTGCCCA
TAACAAAGATATTGCTTTAGGGGTATTTGATGTGGTGGTGACGGACCCCTCATGCCCAGCCTCGGTGCTGAAGTGTGCTGAAGCATTGCAGCTGCCTGTG
GTGTCACAAGAGTGGGTGATCCAGTGCCTCATTGTTGGGGAGAGAATTGGATTCAAGCAGCATCCAAAATATAAACACGATTATGTTTCTCACTAAAGAT
ACTTGGTCTTACTGGTTTTATTCCCTGCTATCGTGGAGATTGTGTTTTAACCAGGTTTTAAATGTGTCTTGTGTGTAACTGGATTCCTTGCATGGATCTT
GTATATAGTTTTATTTGCTGAACTTTTATGATAAAATAAATGTTGAATCTCTTTGGTTGTAGTAACTGGG


Protein Sequence     (SEQ ID NO:446):
MDPTGSQLDSDFSQQDTPCLIIEDSQPESQVLEDDSGSHFSMLSRHLPNLQTHKENPVLDVVSNPEQTAGEERGDGNSGFNEHLKENKVADPVDSSNLDT
CGSISQVIEQLPQPNRTSSVLGMSVESAPAVEEEKGEELEQKEKEKEEDTSGNTTHSLGAEDTASSQLGFGVLELSQSQDVEENTVPYEVDKEQLQSVTT
NSGYTRLSDVDANTAIKHEEQSNEDIPIAEQSSKDIPVTAQPSKDVHVVKEQNPPPARSEDMPFSPKASVAAMEAKEQLSAQELMESGLQIQKSPEPEVL
STQEDLFDQSNKTVSSDGCSTPSREEGGCSLASTPATTLHLLQLSGQRSLVQDSLSTNSSDLVAPSPDAFRSTPFIVPSSPTEQEGRQDKPMDTSVLSEE
GGEPFQKKLQSGEPVELENPPLLPESTVSPQASTPISQSTPVFPPGSLPIPSQPQFSHDIFIPSPSLEEQSNDGKKDGDMHSSSLTVECSKTSEIEPKNS
PEDLGLSLTGDSCKLMLSTSEYSQSPKMESLSSHRIDEDGENTQIEDTEPMSPVLNSKFVPAENDSILMNPAQDGEVQLSQNDDKTKGDDTDTRDDISIL
ATGCKGREETVAEDVCIDLTCDSGSQAVPSPATRSEALSSVLDQEEAMEIKEHHPEEGSSGSEVEEIPETPCESQGEELKEENMESVPLHLSLTETQSQG
LCLQKEMPKKECSEAMEVETSVISIDSPQKLAILDQELEHKEQEAWEEATSEDSSVVIVDVKEPSPRVDVSCEPLEGVEKCSDSQSWEDIAPEIEPCAEN
RLDTKEEKSVEYEGDLKSGTAETEPVEQDSSQPSLPLVRADDPLRLDQELQQPQTQEKTSNSLTEDSKMANAKQLSSDAEAQKLGKPSAHASQSFCESSS
ETPFHFTLPKEGDIIPPLTGATPPLIGHLKLEPKRHSTPIGISNYPESTIATSDVMSESMVETHDPILGSGKGDSGAAPDVDDKLCLRMKLVSPETEASE
ESLQFNLEKPATGERKNGSTAVAESVASPQKTMSVLSCICEARQENEARSEDPPTTPIRGNLLHFPSSQGEEEKEKLEGDHTIRQSQQPMKPISPVKDPV
SPASQKMVIQGPSSPQGEAMVTDVLEDQKEGRSTNKENPSKALIERPSQNNIGIQTMECSLRVPETVSAATQTIKNVCEQGTSTVDQNFGKQDATVQTER
GSGEKPVSAPGDDTESLHSQGEEEFDMPQPPHGHVLHRHMRTIREVRTLVTRVITDVYYVDGTEVERKVTEETEEPIVECQECETEVSPSQTGGSSGDLG
DISSFSSKASSLHRTSSGTSLSAMHSSGSSGKGAGPLRGKTSGTEPADFALPSSRGGPGKLSPRKGVSQTGTPVCEEDGDAGLGIRQGGKAPVTPRGRGR
RGRPPSRTTGTRETAVPGPLGIEDISPNLSPDDKSFSRVVPRVPDSTRRTDVGAGALRRSDSPEIPFQAAAGPSDGLDASSPGNSFVGLRVVAKWSSNGY
FYSGKITRDVGAGKYKLLFDDGYECDVLGKDILLCDPIPLDTEVTALSEDEYFSAGVVKGHRKESGELYYSIEKEGQRKWYKRMAVILSLEQGNRLREQY
GLGPYEAVTPLTKAADISLDNLVEGKRKRRSNVSSPATPTASSSSSTTPTRKITESPRASMGVLSGKRKLITSEEERSPAKRGRKSATVKPGAVGAGEFV
SPCESGDNTGEPSALEEQRGPLPLNKTLFLGYAFLLTMATTSDKLASRSKLPDGPTGSSEEEEEFLEIPPFNKQYTESQLRAGAGYILEDFNEAQCNTAY
QCLLIADQHCRTRKYFLCLASGIPCVSHVWVHDSCHANQLQNYRNYLLPAGYSLEEQRILDWQPRENPFQNLKVLLVSDQQQNFLELWSEILMTGGAASV
KQHHSSAHNKDIALGVFDVVVTDPSCPASVLKCAEALQLPVVSQEWVIQCLIVGERIGFKQHPKYKHDYVSH*



SNP Information


Context              (SEQ ID NO:4029):
GTGGGCGAAGGGGCCGCCCACCTTCTCGGACCACTGGAACCAGAGAAACAGCTGTGCCTGGCCCCTTGGGCATAGAGGACATTTCACCTAACTTGTCACC
R
GATGATAAATCCTTCAGCCGTGTCGTGCCCCGAGTGCCAGACTCCACCAGACGAACAGATGTGGGTGCTGGTGCTTTGCGTCGTAGTGACTCTCCAGAAA
Celera SNP ID:                hCV15852768
SNP Position Transcript:      4470
SNP Source:                   CDX
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1431,(P,CCA) (P,CCG)



Context              (SEQ ID NO:4030):
TAAGGCCTTGATTGAAAGGCCCAGCCAAAATAACATAGGAATCCAAACCATGGAGTGTTCCTTGAGGGTCCCAGAAACTGTTTCAGCAGCAACCCAGACT
R
TAAAGAATGTGTGTGAGCAGGGGACCAGTACAGTGGACCAGAACTTTGGAAAGCAAGATGCCACAGTTCAGACTGAGAGGGGGAGTGGTGAGAAACCAGT
Celera SNP ID:                hCV27486002
SNP Position Transcript:      3697
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,120|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1174,(I,ATA) (V,GTA)



Context              (SEQ ID NO:4031):
AGTCGCTCCATAGCCAGGGAGAAGAAGAGTTTGATATGCCTCAGCCTCCACATGGCCATGTCTTACATCGTCACATGAGAACAATCCGGGAAGTACGCAC
R
CTTGTCACTCGTGTCATTACAGATGTGTATTATGTGGATGGAACAGAAGTAGAAAGAAAAGTAACTGAGGAGACTGAAGAGCCAATTGTAGAGTGTCAGG
Celera SNP ID:                hCV25984424
SNP Position Transcript:      3921
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,28)  african american(G,1|A,25)  total(G,1|A,53)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1248,(T,ACA) (T,ACG)



Context              (SEQ ID NO:4032):
AGCTCAGATGCAGAGGCCCAGAAGCTGGGGAAGCCCTCTGCCCATGCCTCACAAAGCTTCTGTGAAAGTTCTAGTGAAACCCCATTTCATTTCACTTTGC
Y
TAAAGAAGGTGATATCATCCCACCATTGACTGGTGCAACCCCACCTCTTATTGGGCACCTAAAATTGGAGCCCAAGAGACACAGTACTCCTATTGGTATT
Celera SNP ID:                hCV16259556
SNP Position Transcript:      2903
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 909,(P,CCT) (L,CTT)



Context              (SEQ ID NO:4033):
GAAATCCCTGAGACACCTTGTGAAAGTCAAGGAGAGGAACTCAAAGAAGAAAATATGGAGAGTGTTCCGTTGCACCTTTCTCTGACTGAAACTCAGTCCC
R
AGGGTTGTGTCTTCAAAAGGAAATGCCAAAAAAAGAATGCTCAGAAGCTATGGAAGTTGAAACCAGTGTGATTAGTATTGATTCCCCTCAAAAGTTGGCA
Celera SNP ID:                hCV25982616
SNP Position Transcript:      2273
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 699,(Q,CAA) (R,CGA)



Context              (SEQ ID NO:4034):
CAGGGTCTGAGGTGGAAGAAATCCCTGAGACACCTTGTGAAAGTCAAGGAGAGGAACTCAAAGAAGAAAATATGGAGAGTGTTCCGTTGCACCTTTCTCT
K
ACTGAAACTCAGTCCCAAGGGTTGTGTCTTCAAAAGGAAATGCCAAAAAAAGAATGCTCAGAAGCTATGGAAGTTGAAACCAGTGTGATTAGTATTGATT
Celera SNP ID:                hCV8794944
SNP Position Transcript:      2256
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 693,(L,CTG) (L,CTT)



Context              (SEQ ID NO:4035):
TGCTTCCCAGAAGATGGTCATACAAGGGCCATCCAGTCCTCAAGGAGAGGCAATGGTGACAGATGTGCTAGAAGACCAGAAAGAAGGACGGAGTACTAAT
M
AGGAAAATCCTAGTAAGGCCTTGATTGAAAGGCCCAGCCAAAATAACATAGGAATCCAAACCATGGAGTGTTCCTTGAGGGTCCCAGAAACTGTTTCAGC
Celera SNP ID:                hCV25982287
SNP Position Transcript:      3583
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|A,7)  african american(C,28|A,8)  total(C,31|A,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1136,(K,AAG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,8|A,14)  african american(C,12|A,0)  total(C,20|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1136,(K,AAG) (Q,CAG)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1136,(K,AAG) (Q,CAG)



Context              (SEQ ID NO:4036):
AGCAAGAAGGGAGACAAGATAAGCCAATGGACACGTCAGTGTTATCTGAAGAAGGAGGAGAGCCTTTTCAGAAGAAACTTCAAAGTGGTGAACCAGTGGA
R
TTAGAAAACCCCCCTCTCCTGCCTGAGTCCACTGTATCACCACAAGCCTCAACACCAATATCTCAGAGCACACCAGTCTTCCCTCCTGGGTCACTTCCTA
Celera SNP ID:                hCV25985895
SNP Position Transcript:      1425
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,0)  african american(G,29|A,1)  total(G,61|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 416,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4037):
CTACTCCTTCAAGGGAGGAAGGTGGGTGTTCTTTGGCTTCCACTCCTGCCACCACTCTGCATCTCCTGCAGCTCTCTGGTCAGAGGTCCCTTGTTCAGGA
S
AGTCTTTCCACGAATTCTTCAGATCTTGTTGCTCCTTCTCCTGATGCTTTCCGATCTACTCCTTTTATCGTTCCTAGCAGTCCCACAGAGCAAGAAGGGA
Celera SNP ID:                hCV2944794
SNP Position Transcript:      1236
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,80|C,104) ; no_pop(G,6|C,16) ; no_pop(G,-|C,-) ; no_pop(G,100
8|C,1080) ; no_pop(G,74|C,166)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 353,(D,GAC) (E,GAG)



Context              (SEQ ID NO:4038):
CATGTGCTGAGAATAGATTAGACACCAAGGAAGAAAAGAGTGTAGAATATGAAGGAGATCTGAAATCAGGGACTGCAGAAACAGAACCTGTAGAGCAAGA
Y
TCTTCACAGCCTTCCTTACCTTTAGTGAGAGCAGATGATCCTTTAAGACTTGACCAGGAGTTGCAGCAGCCCCAAACTCAGGAGAAAACAAGTAATTCAT
Celera SNP ID:                hCV637094
SNP Position Transcript:      2664
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1784|C,1184) ; no_pop(T,-|C,-) ; no_pop(T,728|C,704) ; no_pop
(T,166|C,74)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 829,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4039):
TGGTGCTTTGCGTCGTAGTGACTCTCCAGAAATTCCTTTCCAGGCTGCTGCTGGCCCTTCTGATGGCTTAGATGCCTCCTCTCCAGGAAATAGCTTTGTA
K
GGCTCCGTGTTGTAGCCAAGTGGTCATCCAATGGCTACTTTTACTCTGGGAAAATCACACGAGATGTCGGAGCTGGGAAGTATAAATTGCTCTTTGATGA
Celera SNP ID:                hDV69172828
SNP Position Transcript:      4639
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1488,(G,GGG) (W,TGG)



Context              (SEQ ID NO:4040):
ACTGGAACCAGAGAAACAGCTGTGCCTGGCCCCTTGGGCATAGAGGACATTTCACCTAACTTGTCACCAGATGATAAATCCTTCAGCCGTGTCGTGCCCC
R
AGTGCCAGACTCCACCAGACGAACAGATGTGGGTGCTGGTGCTTTGCGTCGTAGTGACTCTCCAGAAATTCCTTTCCAGGCTGCTGCTGGCCCTTCTGAT
Celera SNP ID:                hCV15852767
SNP Position Transcript:      4502
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 1442,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:4041):
TAGATGCCTCCTCTCCAGGAAATAGCTTTGTAGGGCTCCGTGTTGTAGCCAAGTGGTCATCCAATGGCTACTTTTACTCTGGGAAAATCACACGAGATGT
Y
GGAGCTGGGAAGTATAAATTGCTCTTTGATGATGGGTACGAATGTGATGTGTTGGGCAAAGACATTCTGTTATGTGACCCCATCCCGCTGGACACTGAAG
Celera SNP ID:                hCV15852758
SNP Position Transcript:      4707
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,10)  african american(T,3|C,33)  total(T,3|C,43)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1510,(V,GTC) (V,GTT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1510,(V,GTC) (V,GTT)



Context              (SEQ ID NO:4042):
TCACAGAAAGTCCTCGTGCCTCCATGGGAGTTCTCTCAGGCAAAAGAAAACTTATCACTTCTGAAGAGGAACGGTCCCCTGCCAAGCGAGGTCGCAAGTC
W
GCCACAGTAAAACCTGGTGCAGTAGGGGCAGGAGAGTTTGTGAGCCCCTGTGAGAGTGGAGACAACACCGGTGAACCCTCTGCCCTGGAAGAGCAGAGAG
Celera SNP ID:                hCV15852757
SNP Position Transcript:      5235
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,27|A,5)  african american(T,28|A,2)  total(T,55|A,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1686,(S,TCT) (S,TCA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1686,(S,TCT) (S,TCA)



Context              (SEQ ID NO:4043):
CTCGGACCACTGGAACCAGAGAAACAGCTGTGCCTGGCCCCTTGGGCATAGAGGACATTTCACCTAACTTGTCACCAGATGATAAATCCTTCAGCCGTGT
Y
GTGCCCCGAGTGCCAGACTCCACCAGACGAACAGATGTGGGTGCTGGTGCTTTGCGTCGTAGTGACTCTCCAGAAATTCCTTTCCAGGCTGCTGCTGGCC
Celera SNP ID:                hCV25760350
SNP Position Transcript:      4494
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,30)  african american(T,2|C,34)  total(T,2|C,64)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:446, 1439,(V,GTC) (V,GTT)



Context              (SEQ ID NO:4044):
TAGCAGTCCCACAGAGCAAGAAGGGAGACAAGATAAGCCAATGGACACGTCAGTGTTATCTGAAGAAGGAGGAGAGCCTTTTCAGAAGAAACTTCAAAGT
R
GTGAACCAGTGGAGTTAGAAAACCCCCCTCTCCTGCCTGAGTCCACTGTATCACCACAAGCCTCAACACCAATATCTCAGAGCACACCAGTCTTCCCTCC
Celera SNP ID:                hCV637099
SNP Position Transcript:      1411
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,116|A,68) ; no_pop(G,3564|A,612) ; no_pop(G,-|A,-) ; no_pop(G
,896|A,64)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:446, 412,(G,GGT) (S,AGT)



Context              (SEQ ID NO:4045):
ATTCCCTGCTATCGTGGAGATTGTGTTTTAACCAGGTTTTAAATGTGTCTTGTGTGTAACTGGATTCCTTGCATGGATCTTGTATATAGTTTTATTTGCT
K
AACTTTTATGATAAAATAAATGTTGAATCTCTTTGGTTGTAGTAACTGGG
Celera SNP ID:                hCV12077463
SNP Position Transcript:      6220
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:446, None



Gene Number:                  75
Celera Gene:                  hCG40014 - 145000147029142
Celera Transcript:            hCT2300004 - 145000147029148
Public Transcript Accession:
Celera Protein:               hCP1797656 - 197000064930297
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VU5C(13048038..13074367)
Chromosome:                   22
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:186):
ATGGAAGCTCAGAGGAGGGAGCCCCTAAATTACTCTGGGAAATTCAAAGAAGATTTCATCAGTGCATTTAACTATGATGGTACTCCTGCTGTGAGACAAG
AATGGCAGAATGACTCCCATGCCCTGACAGTTGGAAGAGATCAAGCTCCCAAGGCGCCGTCTGCTTTCATGGGTTTGGCCTGCCAGGGAAGAGCTCAGCA
AATCCAGCTGAAAGAGGTGATGAAGTCAGACCTACTGGTTACTTGGCTGCAGAAAGCTCTGGGTGTGCGGCAGTACCATGTGGCATCAGTCCTGTGCCAA
CGGGCCAAGGTGGCGATGAGACCCTTTGAGCCTAAGTACATCCACTATGACCTGCTAGAGAAGAACATTAACATTCCTGGGGGGCATCTGCATTGGAGTT
GGGGGTGCCGAGCTGTGGATGTCATGACTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGATTGGCGTGAAGCTGATGGGCTCCCTCTCTGGTTGGAC
CTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCATGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGTTGTAGACTCCATC
TCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGACAACCACTTCCGTGTTCCATTACAACCTCAGGATGAAGAAGTACATGAGCA
AGACCTGCCAGGCAGACATTGCCAATCTAGCTGATGAATTCAAAGATCACTTGGTGCCTGACCCTGGGTGCCATTATGACCAACTAATTGAAGTTAACCC
CAGTGAACTGAAGCTGCACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGTGGGCAAGATCCGTGCCTCCATTGAGCAGGATGGC
TATGCACAGACCTTGAGGGATGTGGGTGGCATCGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGTCAGTTGCACAGAAAGGACATCAACAAGCAGGAGA
AGAACATAATTGTCACCTCCTACAACAGGAACTTCATGGGCCACAATGACACGAACCCCGAGACCCATGCCTTCATCACATCCCCAGAGACTGTCACAGC
CCTGGCCATTGTGGGAACCCTCAAGTTCAACCCAGAGACCAACTACCTGACAGGCAAGGATGGCAAGAAGTTCAAGCTGGAGGCTCCGGATGCAGATGAG
CTTCCCCAAGCAGAGTTTGGCCCAGGGCAGGACACCTACCAGCACCCCCGCATGGGTGGTGCCATCAACATTGAAAATGGCAAGGCCAACTCTGTGCACG
ATGCTGTCACCCACGAGTTTGGCCCCTTCCCTGACACTGCCCGCTACAAGAAATATGGCATCAGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGAT
TCACGAGACCAACCTGAGGAGGCAGGGCCTGCTGCCCCTGACCTTCGCTGACCCAGCTGACAACAAGATTCACCTTGTGGACAAGCTGACCATTCAGAGC
CTGAAGGACTTGACGCTGGCAAGCCCC


Protein Sequence     (SEQ ID NO:447):
MEAQRREPLNYSGKFKEDFISAFNYDGTPAVRQEWQNDSHALTVGRDQAPKAPSAFMGLACQGRAQQIQLKEVMKSDLLVTWLQKALGVRQYHVASVLCQ
RAKVAMRPFEPKYIHYDLLEKNINIPGGHLHWSWGCRAVDVMTGIPWELKCPKVIGVKLMGSLSGWTSPKDVILKVAGILTMKGGTGAIVEYHGPVVDSI
SCTGMVTVCNMGLEIGTTTSVFHYNLRMKKYMSKTCQADIANLADEFKDHLVPDPGCHYDQLIEVNPSELKLHINGPFTPDLAHPVAEVGKIRASIEQDG
YAQTLRDVGGIVLANACGPCIGQLHRKDINKQEKNIIVTSYNRNFMGHNDTNPETHAFITSPETVTALAIVGTLKFNPETNYLTGKDGKKFKLEAPDADE
LPQAEFGPGQDTYQHPRMGGAINIENGKANSVHDAVTHEFGPFPDTARYKKYGIRGRAIITKSFARIHETNLRRQGLLPLTFADPADNKIHLVDKLTIQS
LKDLTLASP



SNP Information


Context              (SEQ ID NO:4046):
GTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGTTGTAGACTCCATCTCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGAC
M
ACCACTTCCGTGTTCCATTACAACCTCAGGATGAAGAAGTACATGAGCAAGACCTGCCAGGCAGACATTGCCAATCTAGCTGATGAATTCAAAGATCACT
Celera SNP ID:                hCV2450203
SNP Position Transcript:      651
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1563|C,851) ; no_pop(A,229|C,272) ; no_pop(A,178|C,166) ; no_
pop(A,80|C,40)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 217,(T,ACA) (T,ACC)



Context              (SEQ ID NO:4047):
TGGGAAATTCAAAGAAGATTTCATCAGTGCATTTAACTATGATGGTACTCCTGCTGTGAGACAAGAATGGCAGAATGACTCCCATGCCCTGACAGTTGGA
M
GAGATCAAGCTCCCAAGGCGCCGTCTGCTTTCATGGGTTTGGCCTGCCAGGGAAGAGCTCAGCAAATCCAGCTGAAAGAGGTGATGAAGTCAGACCTACT
Celera SNP ID:                hCV27855674
SNP Position Transcript:      136
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|A,21)  african american(C,1|A,27)  total(C,2|A,48)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 46,(R,AGA) (R,CGA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 46,(R,AGA) (R,CGA)



Context              (SEQ ID NO:4048):
CTATGACCTGCTAGAGAAGAACATTAACATTCCTGGGGGGCATCTGCATTGGAGTTGGGGGTGCCGAGCTGTGGATGTCATGACTGGGATCCCCTGGGAG
Y
TGAAGTGCCCCAAGGTGATTGGCGTGAAGCTGATGGGCTCCCTCTCTGGTTGGACCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCAT
Celera SNP ID:                hCV26307859
SNP Position Transcript:      445
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 149,(L,CTG) (L,TTG)



Context              (SEQ ID NO:4049):
TCCCTCTCTGGTTGGACCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCATGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGC
Y
TGTTGTAGACTCCATCTCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGACAACCACTTCCGTGTTCCATTACAACCTCAGGATG
Celera SNP ID:                hCV11477483
SNP Position Transcript:      584
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:447, 195,(P,CCT) (L,CTT)



Context              (SEQ ID NO:4050):
ATGGAAGCTCAGAGGAGGGAGCCCCTAAATTACT
S
TGGGAAATTCAAAGAAGATTTCATCAGTGCATTTAACTATGATGGTACTCCTGCTGTGAGACAAGAATGGCAGAATGACTCCCATGCCCTGACAGTTGGA
Celera SNP ID:                hCV29501236
SNP Position Transcript:      35
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:447, 12,(S,TCT) (C,TGT)



Context              (SEQ ID NO:4051):
AGAGACTGTCACAGCCCTGGCCATTGTGGGAACCCTCAAGTTCAACCCAGAGACCAACTACCTGACAGGCAAGGATGGCAAGAAGTTCAAGCTGGAGGCT
S
CGGATGCAGATGAGCTTCCCCAAGCAGAGTTTGGCCCAGGGCAGGACACCTACCAGCACCCCCGCATGGGTGGTGCCATCAACATTGAAAATGGCAAGGC
Celera SNP ID:                hCV11749854
SNP Position Transcript:      1186
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,2|C,8) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:447, 396,(P,CCG) (A,GCG)



Context              (SEQ ID NO:4052):
GCCTGCTGCCCCTGACCTTCGCTGACCCAGCTGACAACAAGATTCACCTTGTGGACAAGCTGACCATTCAGAGCCTGAAGGACTTGACGCTGGCAAGCCC
Y

Celera SNP ID:                hCV30403464
SNP Position Transcript:      1527
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 509,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4053):
TGGGCAAGATCCGTGCCTCCATTGAGCAGGATGGCTATGCACAGACCTTGAGGGATGTGGGTGGCATCGTCCTGGCCAATGCTTGTGGCCCCTGCATTGG
Y
CAGTTGCACAGAAAGGACATCAACAAGCAGGAGAAGAACATAATTGTCACCTCCTACAACAGGAACTTCATGGGCCACAATGACACGAACCCCGAGACCC
Celera SNP ID:                hDV70784679
SNP Position Transcript:      966
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:447, 322,(G,GGT) (G,GGC)



Gene Number:                  75
Celera Gene:                  hCG40014 - 145000147029142
Celera Transcript:            hCT31267 - 145000147029143
Public Transcript Accession:
Celera Protein:               hCP50694 - 197000064930296
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VU5C(13048038..13074367)
Chromosome:                   22
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:187):
ATGGTGCCCTACAGCCTACTGGTTACTTGGCTGCAGAAAGCTCTGGGTGTGCGGCAGTACCATGTGGCATCAGTCCTGTGCCAACGGGCCAAGGTGGCGA
TGAGACCCTTTGAGCCTAAGTACATCCACTATGACCTGCTAGAGAAGAACATTAACATTGTTTGCAAATGATTGAACCGGCCTCTGACCCTCTCAGAGAA
GATCGTGTACAGACACCCGGATGACCCCACCAGCCAGGAAATTGAGCGGGGCGGGACGTACCTGCAGCAGTGGCCGGACAGCGTGACCATGCAGGATGGA
CGGCCCAGATGGCCATGCTGCAGTTCATCAGCAGCAGGCTCCCAAGGTGACCATGCCATCCACCATCCACTGTGACCATCTGATTGAGGCCCAGCTCGGG
AGTGAGAAAGACCTGCACCAGGCCAAGGACATCAACCACGAAGTTTATAATTTCCTGGCAACTGGAAGTGTCAAATATGGCTTGAGCTTCTGGAAGCCTG
GATCTGGAATCATTCACCAGATTATTCTGGAAAACTATGAATATCCTGGGGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCAGCCTGGG
GGGCATCTGCATTGGAGTTGGGGGTGCCGAGCTGTGGATGTCATGACTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGATTGGCGTGAAGCTGATGG
GCTCCCTCTCTGGTTGGACCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCATGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGG
GCCTGTTGTAGACTCCATCTCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGACAACCACTTCCGTGTTCCATTACAACCTCAGG
ATGAAGAAGTACATGAGCAAGACCTGCCAGGCAGACATTGCCAATCTAGCTGATGAATTCAAAGATCACTTGGTGCCTGACCCTGGGTGCCATTATGACC
AACTAATTGAAGTTAACCCCAGTGAACTGAAGCTGCACATCAATGGGCCCTTCACCCCTGACCTGGCTCACCCTGTGGCAGAAGTGGGCAAGGTGGCAGA
GAAGGAAGAATGGCCTCTGGACATCTGAGTGGGTCTGTGGGGCAGCTGCACCAATTCAAGCTATGAAGATATGGGGTGCTCAGCAGGTGTGGCCAAGCAG
GCACTGGCCCATGGCCTCAAGTGCAAGTCCCAGTTCACTATTACTCCATGCTCCGAGCAGATCCGTGCCTCCATTGAGCAGGATGGCTATGCACAGACCT
TGAGGGATGTGGGTGGCATCGTCCTGGCCAATGCTTGTGGCCCCTGCATTGGTCAGTTGCACAGAAAGGACATCAACAAGCAGGAGAAGAACATAATTGT
CACCTCCTACAACAGGAACTTCATGGGCCACAATGACACGAACCCCGAGACCCATGCCTTCATCACATCCCCAGAGACTGTCACAGCCCTGGCCATTGTG
GGAACCCTCAAGTTCAACCCAGAGACCAACTACCTGACAGGCAAGGATGGCAAGAAGTTCAAGCTGGAGGCTCCGGATGCAGATGAGCTTCCCCAAGCAG
AGTTTGGCCCAGGGCAGGACACCTACCAGCACCCCCGCATGGGGTACCACTGACCACATCTCAGCTGCCGGCCCCTGACTCAAGTTCCGTGGGCACTTGG
ACACCATCTCCAACAACTTGCTCAGTGGTGCCATCAACATTGAAAATGGCAAGGCCAACTCTGTGCACGATGCTGTCACCCACGAGTTTGGCCCCTTCCC
TGACACTGCCCGCTACAAGAAATATGGCATCAGTTGGGTGGTGATTGGGGACTAGAACTATGGCAAGGGCTCAAGCTGGGAGCACGCCGCGCTGGAGCCT
CGCCACCTCAGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATTCACGAGACCAACCTGAGGAGGCAGGGCCTGCTGCCCCTGACCTTCGCTGAC
CCAGCTGACAACAAGATTCACCTTGTGGACAAGCTGACCATTCAGAGCCTGAAGGACTTGACGCTGGCAAGCCCCTGAAGTACATCGTCAAGCACCCCAG
GAAATCAACCTCCTGAACCACACCTTCAACGAGACGGAGATCGAGTGGTTCAGGGCCGGCAGTGCCCTCTACAGAACGAAGGAGCAGCAGCAA


Protein Sequence     (SEQ ID NO:448):
MTGIPWELKCPKVIGVKLMGSLSGWTSPKDVILKVAGILTMKGGTGAIVEYHGPVVDSISCTGMVTVCNMGLEIGTTTSVFHYNLRMKKYMSKTCQADIA
NLADEFKDHLVPDPGCHYDQLIEVNPSELKLHINGPFTPDLAHPVAEVGKVAEKEEWPLDI*



SNP Information


Context              (SEQ ID NO:4054):
GTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGTTGTAGACTCCATCTCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGAC
M
ACCACTTCCGTGTTCCATTACAACCTCAGGATGAAGAAGTACATGAGCAAGACCTGCCAGGCAGACATTGCCAATCTAGCTGATGAATTCAAAGATCACT
Celera SNP ID:                hCV2450203
SNP Position Transcript:      870
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1563|C,851) ; no_pop(A,229|C,272) ; no_pop(A,178|C,166) ; no_
pop(A,80|C,40)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:448, 76,(T,ACA) (T,ACC)



Context              (SEQ ID NO:4055):
GCACTGACTCCCACACCCCCAATGGTGGCAGCCTGGGGGGCATCTGCATTGGAGTTGGGGGTGCCGAGCTGTGGATGTCATGACTGGGATCCCCTGGGAG
Y
TGAAGTGCCCCAAGGTGATTGGCGTGAAGCTGATGGGCTCCCTCTCTGGTTGGACCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCAT
Celera SNP ID:                hCV26307859
SNP Position Transcript:      664
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:448, 8,(L,CTG) (L,TTG)



Context              (SEQ ID NO:4056):
AACCGGCCTCTGACCCTCTCAGAGAAGATCGTGTACAGACACCCGGATGACCCCACCAGCCAGGAAATTGAGCGGGGCGGGACGTACCTGCAGCAGTGGC
Y
GGACAGCGTGACCATGCAGGATGGACGGCCCAGATGGCCATGCTGCAGTTCATCAGCAGCAGGCTCCCAAGGTGACCATGCCATCCACCATCCACTGTGA
Celera SNP ID:                hCV15951827
SNP Position Transcript:      275
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:448, None



Context              (SEQ ID NO:4057):
TCCCTCTCTGGTTGGACCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACCATGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGC
Y
TGTTGTAGACTCCATCTCCTGCACTGGCATGGTGACAGTCTGCAACATGGGCTTAGAAATTGGGACAACCACTTCCGTGTTCCATTACAACCTCAGGATG
Celera SNP ID:                hCV11477483
SNP Position Transcript:      803
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:448, 54,(P,CCT) (L,CTT)



Context              (SEQ ID NO:4058):
ACCGGCCTCTGACCCTCTCAGAGAAGATCGTGTACAGACACCCGGATGACCCCACCAGCCAGGAAATTGAGCGGGGCGGGACGTACCTGCAGCAGTGGCC
R
GACAGCGTGACCATGCAGGATGGACGGCCCAGATGGCCATGCTGCAGTTCATCAGCAGCAGGCTCCCAAGGTGACCATGCCATCCACCATCCACTGTGAC
Celera SNP ID:                hCV15951837
SNP Position Transcript:      276
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,120)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:448, None



Context              (SEQ ID NO:4059):
AGAGACTGTCACAGCCCTGGCCATTGTGGGAACCCTCAAGTTCAACCCAGAGACCAACTACCTGACAGGCAAGGATGGCAAGAAGTTCAAGCTGGAGGCT
S
CGGATGCAGATGAGCTTCCCCAAGCAGAGTTTGGCCCAGGGCAGGACACCTACCAGCACCCCCGCATGGGGTACCACTGACCACATCTCAGCTGCCGGCC
Celera SNP ID:                hCV11749854
SNP Position Transcript:      1573
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,2|C,8) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:448, None



Context              (SEQ ID NO:4060):
GCCTGCTGCCCCTGACCTTCGCTGACCCAGCTGACAACAAGATTCACCTTGTGGACAAGCTGACCATTCAGAGCCTGAAGGACTTGACGCTGGCAAGCCC
Y
TGAAGTACATCGTCAAGCACCCCAGGAAATCAACCTCCTGAACCACACCTTCAACGAGACGGAGATCGAGTGGTTCAGGGCCGGCAGTGCCCTCTACAGA
Celera SNP ID:                hCV30403464
SNP Position Transcript:      2075
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:448, None



Gene Number:                  76
Celera Gene:                  hCG41445 - 83000099128601
Celera Transcript:            hCT2300137 - 83000099128619
Public Transcript Accession:  NM_000395
Celera Protein:               hCP1797772 - 197000064930413
Public Protein Accession:     NP_000386
Gene Symbol:                  CSF2RB
Protein Name:                  colony stimulating factor 2 receptor, beta, low-affinity (granulocyte
-macrophage)

Celera Genomic Axis:          GA_x5YUV32VU5C(15371201..15410031)
Chromosome:                   22
OMIM NUMBER:                  138981
OMIM Information:             Pulmonary alveolar proteinosis, 265120 (3)


Transcript Sequence  (SEQ ID NO:188):
CACTCTGCCTAGAGGCTCCAGAAGAAGACTGGTCTCTCCCACCACACAGAGGCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAA
ATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGACACTAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTG
CCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTCCATGGCCCTGCTGGCCCTGTGCTGGGAGCGCAGCCTGGCAGGGGCAGAAGA
AACCATCCCGCTGCAGACCCTGCGCTGCTACAACGACTACACCAGCCACATCACCTGCAGGTGGGCAGACACCCAGGATGCCCAGCGGCTCGTCAACGTG
ACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGACCTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTGCGTGC
CCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACTACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCGTCAC
TCTGACCCAGCATGTCCAGCCTCCTGAGCCCAGGGACCTGCAGATCAGCACCGACCAGGACCACTTCCTGCTGACCTGGAGTGTGGCCCTTGGGAGTCCC
CAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAGCGGCTTCAGGACTCTTGGGAGGACGCAGCCATCCTCCTCTCCAACACCT
CCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCC
CAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGC
TGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAGCCCAGATGCAGGGGAGGAAGAGTGCTCCCCAGTGC
TGAGGGAGGGGCTCGGCAGCCTCCACACCAGGCACCACTGCCAGATTCCCGTGCCCGACCCCGCGACCCACGGCCAATACATCGTCTCTGTTCAGCCAAG
GAGGGCAGAGAAACACATAAAGAGCTCAGTGAACATCCAGATGGCCCCTCCATCCCTCAACGTGACCAAGGATGGAGACAGCTACAGCCTGCGCTGGGAA
ACAATGAAAATGCGATACGAACACATAGACCACACATTTGAGATCCAGTACAGGAAAGACACGGCCACGTGGAAGGACAGCAAGACCGAGACCCTCCAGA
ACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGGCCAGGGTGAGGGTCAGGACCTCCCGCACCGGCTACAACGGGATCTGGAG
TGAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTGGGTGCTGGCCCTCATCGTGATCTTCCTCACCATCGCTGTGCTCCTGGCC
CTCCGCTTCTGTGGCATCTACGGGTACAGGCTGCGCAGAAAGTGGGAGGAGAAGATCCCCAACCCCAGCAAGAGCCACCTGTTCCAGAACGGGAGCGCAG
AGCTTTGGCCCCCAGGCAGCATGTCGGCCTTCACTAGCGGGAGTCCCCCACACCAGGGGCCGTGGGGCAGCCGCTTCCCTGAGCTGGAGGGGGTGTTCCC
TGTAGGATTCGGGGACAGCGAGGTGTCACCTCTCACCATAGAGGACCCCAAGCATGTCTGTGATCCACCATCTGGGCCTGACACGACTCCAGCTGCCTCA
GATCTACCCACAGAGCAGCCCCCCAGCCCCCAGCCAGGCCCGCCTGCCGCCTCCCACACACCTGAGAAACAGGCTTCCAGCTTTGACTTCAATGGGCCCT
ACCTGGGGCCGCCCCACAGCCGCTCCCTACCTGACATCCTGGGCCAGCCGGAGCCCCCACAGGAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCT
GGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACCGGGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGC
CAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGGACAGGACCAAAAGGACAGCCCTG
TGGCTATACCCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTGGTTATGTCTCCTCTGCAGACCTGGTATTCACCCCAAACTCAGGGGCCTC
GTCTGTCTCCCTAGTTCCCTCTCTGGGCCTCCCCTCAGACCAGACCCCCAGCTTATGTCCTGGGCTGGCCAGTGGACCCCCTGGAGCCCCAGGCCCTGTG
AAGTCAGGGTTTGAGGGCTATGTGGAGCTCCCTCCAATTGAGGGCCGGTCCCCCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTG
TCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCC
CGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGGACCCGGTCCTGAGATCAAGAACCTAGACCAGGCTTTTCAAGTCAAGAAG
CCCCCAGGCCAGGCTGTGCCCCAGGTGCCCGTCATTCAGCTCTTCAAAGCCCTGAAGCAGCAGGACTACCTGTCTCTGCCCCCTTGGGAGGTCAACAAGC
CTGGGGAGGTGTGTTGAGACCCCCAGGCCTAGACAGGCAAGGGGATGGAGAGGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGC
CAAGGGGCAGCCTCCTGTCAAGGTAGCTAGAGGCCTGGGAAAGGAGATAGCCTTGCTCCGGCCCCCTTGACCTTCAGCAAATCACTTCTCTCCCTGCGCT
CACACAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGTTAACTTATTTGTAGGTTCTGCATTATTAGAACTTTCTAGATATACTCAT
TCCATCTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGA
GCTGAGCCTTATCAGACTGAGATGCAGCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCT
GGGTGCAGAGGTGGGAGGCACCAGGTGGGCACCCGTGGGGGTTAGGGCTTGGAAGAGTGGCACAGGACTGGGCACGCTCAGTGAGGCTCAGGGAATTCAG
ACTAGCCTCGATTGTCACTCCGAGAAATGGGCATGGTATTGGGGGTCGGGGGGGCGGTGCAAGGGACGCACATGAGAGACTGTTTGGGAGCTTCTGGGGA
GCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGTGGGCAGGCTGGCG
GGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCCAAAGGCATATAT
GCTTTAGGGCCTTTGGTCCAAATGGCCCGGGTGGCCACTCTTCCAGATAGACCAGGCAACTCTCCCTCCCACCGGCCACAGATGAGGGGCTGCTGATCTA
TGCCTGGGCCTGCACCAGGGATTATGGTTCTTTTAAATCTTTGCCTTTCAGATACAGGAAAAATAATGGCATTAAATTGCTTTAATTTGCATTATTTTAG
TTATCCAGTTTGCACATATTTTTATAGGTATCTTAGGCATCGATTGGTATTTTTTAACTGGGCCAAGCCCATTAAGGTCTTTCTTCTGTTGGGTGCTATC
ATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCACAGATGGTGGAGTGTTTTTCCCCCAAATCTGTTGTTTGTCTTATAATGTTGTATAT
GAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACAGATCCCTAGTAAACTCCTTCTTCACTTTTACTGTCAGATTTACAAAGGTCCTCC
CATTGCAAAGCAGTGTTTGTCCTAATTTATATATTGTTTTTCTAGTTCATTTTGTGTTTCCAACTTTTCATGTAAAATTTTAATTATTTTTGAATGTGTG
GATGTGAGACTGAGGTGCCTTTTGGTACTGAAATTCTTTTTCCATGTACCTGAAGTGTTACTTTTGTGATATAGGAAATCCTTGTATATATACTTTATTG
GTCCCTAGGCTTCCTATTTTGTTACCTTGCTTTCTCTATGGCATCCACCATTTTGATTGTTCTACTTTTATGATATGTTTTCATAAGTGGTTAAGCAAGT
ATTCTCGTTACTTTTGCTCTTAAATCCCTATTCATTACAGCAATGTTGGTGGTCAAAGAAAATGATAAACAACTTGAATGTTCAATGGTCCTGAAATACA
TAACAACATTTTAGTACATTGTAAAGTAGAATCCTCTGTTCATAATGAACAAGATGAACCAATGTGGATTAGAAAGAAGTCCGAGATATTAATTCCAAAA
TATCCAGACATTGTTAAAGGGAAAAAATTGCAATAAAATATTTGTAACATAAAACAAAGTGAAACCCTGAA


Protein Sequence     (SEQ ID NO:449):
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPC
QSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPE
HLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSL
HTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALP
ALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSM
SAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSG
DTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERP
ADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC*



SNP Information


Context              (SEQ ID NO:4061):
CCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTG
S
AGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAGCCC
Celera SNP ID:                hCV11486078
SNP Position Transcript:      968
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 249,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:4062):
GTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACC
R
GGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAA
Celera SNP ID:                hCV2228571
SNP Position Transcript:      2167
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,13|G,23)  total(A,21|G,53)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 648,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,36|A,144)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 648,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4063):
GAGGCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAAATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGA
Y
ACTAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTGCCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTC
Celera SNP ID:                hCV25763299
SNP Position Transcript:      149
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,2)  african american(C,11|T,1)  total(C,35|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4064):
CCAGCCAGGCCCGCCTGCCGCCTCCCACACACCTGAGAAACAGGCTTCCAGCTTTGACTTCAATGGGCCCTACCTGGGGCCGCCCCACAGCCGCTCCCTA
M
CTGACATCCTGGGCCAGCCGGAGCCCCCACAGGAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCA
Celera SNP ID:                hCV2228574
SNP Position Transcript:      2030
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,5|A,84)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 603,(P,CCT) (T,ACT)



Context              (SEQ ID NO:4065):
TGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGGACAGGACCAAAAGGACAGCCCTGTGGCTATA
Y
CCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTGGTTATGTCTCCTCTGCAGACCTGGTATTCACCCCAAACTCAGGGGCCTCGTCTGTCTC
Celera SNP ID:                hCV25766067
SNP Position Transcript:      2309
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,0)  african american(C,26|T,2)  total(C,56|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 696,(P,CCC) (S,TCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 696,(P,CCC) (S,TCC)



Context              (SEQ ID NO:4066):
CAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTC
K
CTCCGGAGTAAACCTTCTTCCCCGGGACCCGGTCCTGAGATCAAGAACCTAGACCAGGCTTTTCAAGTCAAGAAGCCCCCAGGCCAGGCTGTGCCCCAGG
Celera SNP ID:                hDV70791587
SNP Position Transcript:      2725
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 834,(S,TCG) (S,TCT)



Context              (SEQ ID NO:4067):
CTGGAGTGTGGCCCTTGGGAGTCCCCAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAGCGGCTTCAGGACTCTTGGGAGGAC
R
CAGCCATCCTCCTCTCCAACACCTCCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCC
Celera SNP ID:                hCV25763104
SNP Position Transcript:      776
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 185,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4068):
ACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGGCCAGGGTGAGGGTCAGGACCTCCCGCACCGGCTACAACGGGATCTGGAG
Y
GAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTGGGTGCTGGCCCTCATCGTGATCTTCCTCACCATCGCTGTGCTCCTGGCCC
Celera SNP ID:                hCV2481290
SNP Position Transcript:      1501
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,9)  african american(C,27|T,7)  total(C,56|T,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 426,(S,AGT) (S,AGC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,14|C,6) ; no_pop(T,20|C,158) ; no_pop(T,336
|C,1680)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 426,(S,AGT) (S,AGC)



Context              (SEQ ID NO:4069):
GAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGG
K
ACCGGGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGG
Celera SNP ID:                hCV8956916
SNP Position Transcript:      2163
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,88|T,1) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 647,(G,GGA) (V,GTA)



Context              (SEQ ID NO:4070):
GAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACCGGGACAGGCC
R
TGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGG
Celera SNP ID:                hCV8956922
SNP Position Transcript:      2177
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,4|A,174) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:449, 652,(V,GTG) (M,ATG)



Context              (SEQ ID NO:4071):
TGGAGCTCCCTCCAATTGAGGGCCGGTCCCCCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCC
R
GCAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCT
Celera SNP ID:                hCV8956923
SNP Position Transcript:      2623
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,32)  african american(A,0|G,8)  total(A,2|G,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 800,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,174)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 800,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4072):
CCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGCC
M
GAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGGAC
Celera SNP ID:                hCV16170528
SNP Position Transcript:      2653
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,238|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 810,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4073):
ACGTGACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGACCTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTG
Y
GTGCCCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACTACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCG
Celera SNP ID:                hCV25765291
SNP Position Transcript:      496
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,24|T,0)  total(C,57|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 91,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4074):
ACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTG
Y
TGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGG
Celera SNP ID:                hCV11486079
SNP Position Transcript:      925
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,19|T,5)  total(C,54|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:449, 234,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4075):
GACAGGCAAGGGGATGGAGAGGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGCCAAGGGGCAGCCTCCTGTCAAGGTAGCTAGA
R
GCCTGGGAAAGGAGATAGCCTTGCTCCGGCCCCCTTGACCTTCAGCAAATCACTTCTCTCCCTGCGCTCACACAGACACACACACACACACGTACATGCA
Celera SNP ID:                hCV25763207
SNP Position Transcript:      3032
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,6)  total(A,1|G,39)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4076):
CAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGTTAACTTATTTGTAGGTTCTGCATTATTAGAACTTTCTAGATATACTCATTCCA
W
CTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGA
Celera SNP ID:                hCV2228570
SNP Position Transcript:      3205
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4077):
ATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGAT
K
CAGCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAG
Celera SNP ID:                hCV8956929
SNP Position Transcript:      3324
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,89|G,3) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4078):
CAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGATGC
R
GCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAGGT
Celera SNP ID:                hCV30007120
SNP Position Transcript:      3326
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4079):
GAGCTTCTGGGGAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGT
S
GGCAGGCTGGCGGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCC
Celera SNP ID:                hCV30349123
SNP Position Transcript:      3688
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4080):
GAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGTGGGCAGGCTGG
Y
GGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCCAAAGGCATATA
Celera SNP ID:                hCV2479427
SNP Position Transcript:      3699
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Context              (SEQ ID NO:4081):
GGTATTTTTTAACTGGGCCAAGCCCATTAAGGTCTTTCTTCTGTTGGGTGCTATCATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCAC
R
GATGGTGGAGTGTTTTTCCCCCAAATCTGTTGTTTGTCTTATAATGTTGTATATGAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACA
Celera SNP ID:                hCV903886
SNP Position Transcript:      4146
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,1|A,4) ; no_pop(G,-|A,-) ; no_pop(G,124|A,2
04) ; no_pop(G,21|A,99)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:449, None



Gene Number:                  76
Celera Gene:                  hCG41445 - 83000099128601
Celera Transcript:            hCT2300138 - 83000099128637
Public Transcript Accession:  NM_000395
Celera Protein:               hCP1797773 - 197000064930414
Public Protein Accession:     NP_000386
Gene Symbol:                  CSF2RB
Protein Name:                  colony stimulating factor 2 receptor, beta, low-affinity (granulocyte
-macrophage)

Celera Genomic Axis:          GA_x5YUV32VU5C(15371201..15410031)
Chromosome:                   22
OMIM NUMBER:                  138981
OMIM Information:             Pulmonary alveolar proteinosis, 265120 (3)


Transcript Sequence  (SEQ ID NO:189):
CACTCTGCCTAGAGGCTCCAGAAGAAGACTGGTCTCTCCCACCACACAGAGGCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAA
ATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGACACTAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTG
CCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTCCATGGCCCTGCTGGCCCTGTGCTGGGAGCGCAGCCTGGCAGGGGCAGAAGA
AACCATCCCGCTGCAGACCCTGCGCTGCTACAACGACTACACCAGCCACATCACCTGCAGGTGGGCAGACACCCAGGATGCCCAGCGGCTCGTCAACGTG
ACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGACCTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTGCGTGC
CCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACTACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCGTCAC
TCTGACCCAGCATGTCCAGCCTCCTGAGCCCAGGGACCTGCAGATCAGCACCGACCAGGACCACTTCCTGCTGACCTGGAGTGTGGCCCTTGGGAGTCCC
CAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAGCGGCTTCAGGACTCTTGGGAGGACGCAGCCATCCTCCTCTCCAACACCT
CCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCC
CAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGC
TGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAGCCCAGATGCAGGCTCTGCTGTGCTCCTCAGGGAGG
AAGAGTGCTCCCCAGTGCTGAGGGAGGGGCTCGGCAGCCTCCACACCAGGCACCACTGCCAGATTCCCGTGCCCGACCCCGCGACCCACGGCCAATACAT
CGTCTCTGTTCAGCCAAGGAGGGCAGAGAAACACATAAAGAGCTCAGTGAACATCCAGATGGCCCCTCCATCCCTCAACGTGACCAAGGATGGAGACAGC
TACAGCCTGCGCTGGGAAACAATGAAAATGCGATACGAACACATAGACCACACATTTGAGATCCAGTACAGGAAAGACACGGCCACGTGGAAGGACAGCA
AGACCGAGACCCTCCAGAACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGGCCAGGGTGAGGGTCAGGACCTCCCGCACCGG
CTACAACGGGATCTGGAGTGAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTGGGTGCTGGCCCTCATCGTGATCTTCCTCACC
ATCGCTGTGCTCCTGGCCCTCCGCTTCTGTGGCATCTACGGGTACAGGCTGCGCAGAAAGTGGGAGGAGAAGATCCCCAACCCCAGCAAGAGCCACCTGT
TCCAGAACGGGAGCGCAGAGCTTTGGCCCCCAGGCAGCATGTCGGCCTTCACTAGCGGGAGTCCCCCACACCAGGGGCCGTGGGGCAGCCGCTTCCCTGA
GCTGGAGGGGGTGTTCCCTGTAGGATTCGGGGACAGCGAGGTGTCACCTCTCACCATAGAGGACCCCAAGCATGTCTGTGATCCACCATCTGGGCCTGAC
ACGACTCCAGCTGCCTCAGATCTACCCACAGAGCAGCCCCCCAGCCCCCAGCCAGGCCCGCCTGCCGCCTCCCACACACCTGAGAAACAGGCTTCCAGCT
TTGACTTCAATGGGCCCTACCTGGGGCCGCCCCACAGCCGCTCCCTACCTGACATCCTGGGCCAGCCGGAGCCCCCACAGGAGGGTGGGAGCCAGAAGTC
CCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACCGGGACAGGCCGTGGAA
GTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGGACAGG
ACCAAAAGGACAGCCCTGTGGCTATACCCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTGGTTATGTCTCCTCTGCAGACCTGGTATTCAC
CCCAAACTCAGGGGCCTCGTCTGTCTCCCTAGTTCCCTCTCTGGGCCTCCCCTCAGACCAGACCCCCAGCTTATGTCCTGGGCTGGCCAGTGGACCCCCT
GGAGCCCCAGGCCCTGTGAAGTCAGGGTTTGAGGGCTATGTGGAGCTCCCTCCAATTGAGGGCCGGTCCCCCAGGTCACCAAGGAACAATCCTGTCCCCC
CTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGG
CGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGGACCCGGTCCTGAGATCAAGAACCTAGACCAG
GCTTTTCAAGTCAAGAAGCCCCCAGGCCAGGCTGTGCCCCAGGTGCCCGTCATTCAGCTCTTCAAAGCCCTGAAGCAGCAGGACTACCTGTCTCTGCCCC
CTTGGGAGGTCAACAAGCCTGGGGAGGTGTGTTGAGACCCCCAGGCCTAGACAGGCAAGGGGATGGAGAGGGCTTGCCTTCCCTCCCGCCTGACCTTCCT
CAGTCATTTCTGCAAAGCCAAGGGGCAGCCTCCTGTCAAGGTAGCTAGAGGCCTGGGAAAGGAGATAGCCTTGCTCCGGCCCCCTTGACCTTCAGCAAAT
CACTTCTCTCCCTGCGCTCACACAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGTTAACTTATTTGTAGGTTCTGCATTATTAGAA
CTTTCTAGATATACTCATTCCATCTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAG
AGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGATGCAGCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCAC
ATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAGGTGGGCACCCGTGGGGGTTAGGGCTTGGAAGAGTGGCACAGGACTGGGCACGCTCAGT
GAGGCTCAGGGAATTCAGACTAGCCTCGATTGTCACTCCGAGAAATGGGCATGGTATTGGGGGTCGGGGGGGCGGTGCAAGGGACGCACATGAGAGACTG
TTTGGGAGCTTCTGGGGAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAA
GTGGTGGGCAGGCTGGCGGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAA
TGCCCCAAAGGCATATATGCTTTAGGGCCTTTGGTCCAAATGGCCCGGGTGGCCACTCTTCCAGATAGACCAGGCAACTCTCCCTCCCACCGGCCACAGA
TGAGGGGCTGCTGATCTATGCCTGGGCCTGCACCAGGGATTATGGTTCTTTTAAATCTTTGCCTTTCAGATACAGGAAAAATAATGGCATTAAATTGCTT
TAATTTGCATTATTTTAGTTATCCAGTTTGCACATATTTTTATAGGTATCTTAGGCATCGATTGGTATTTTTTAACTGGGCCAAGCCCATTAAGGTCTTT
CTTCTGTTGGGTGCTATCATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCACAGATGGTGGAGTGTTTTTCCCCCAAATCTGTTGTTTG
TCTTATAATGTTGTATATGAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACAGATCCCTAGTAAACTCCTTCTTCACTTTTACTGTCA
GATTTACAAAGGTCCTCCCATTGCAAAGCAGTGTTTGTCCTAATTTATATATTGTTTTTCTAGTTCATTTTGTGTTTCCAACTTTTCATGTAAAATTTTA
ATTATTTTTGAATGTGTGGATGTGAGACTGAGGTGCCTTTTGGTACTGAAATTCTTTTTCCATGTACCTGAAGTGTTACTTTTGTGATATAGGAAATCCT
TGTATATATACTTTATTGGTCCCTAGGCTTCCTATTTTGTTACCTTGCTTTCTCTATGGCATCCACCATTTTGATTGTTCTACTTTTATGATATGTTTTC
ATAAGTGGTTAAGCAAGTATTCTCGTTACTTTTGCTCTTAAATCCCTATTCATTACAGCAATGTTGGTGGTCAAAGAAAATGATAAACAACTTGAATGTT
CAATGGTCCTGAAATACATAACAACATTTTAGTACATTGTAAAGTAGAATCCTCTGTTCATAATGAACAAGATGAACCAATGTGGATTAGAAAGAAGTCC
GAGATATTAATTCCAAAATATCCAGACATTGTTAAAGGGAAAAAATTGCAATAAAATATTTGTAACATAAAACAAAGTGAAACCCTGAA


Protein Sequence     (SEQ ID NO:450):
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPC
QSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPE
HLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGSAVLLREEECSPVLR
EGLGSLHTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNA
HSMALPALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAEL
WPPGSMSAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYL
GPPHSRSLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVA
IPMSSGDTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVL
NPGERPADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPG
EVC*



SNP Information


Context              (SEQ ID NO:4082):
CCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTG
S
AGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAGCCC
Celera SNP ID:                hCV11486078
SNP Position Transcript:      968
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 249,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:4083):
GTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACC
R
GGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAA
Celera SNP ID:                hCV2228571
SNP Position Transcript:      2185
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,13|G,23)  total(A,21|G,53)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 654,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,36|A,144)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 654,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4084):
GAGGCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAAATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGA
Y
ACTAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTGCCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTC
Celera SNP ID:                hCV25763299
SNP Position Transcript:      149
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,2)  african american(C,11|T,1)  total(C,35|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4085):
CCAGCCAGGCCCGCCTGCCGCCTCCCACACACCTGAGAAACAGGCTTCCAGCTTTGACTTCAATGGGCCCTACCTGGGGCCGCCCCACAGCCGCTCCCTA
M
CTGACATCCTGGGCCAGCCGGAGCCCCCACAGGAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCA
Celera SNP ID:                hCV2228574
SNP Position Transcript:      2048
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,5|A,84)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 609,(P,CCT) (T,ACT)



Context              (SEQ ID NO:4086):
TGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGGACAGGACCAAAAGGACAGCCCTGTGGCTATA
Y
CCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTGGTTATGTCTCCTCTGCAGACCTGGTATTCACCCCAAACTCAGGGGCCTCGTCTGTCTC
Celera SNP ID:                hCV25766067
SNP Position Transcript:      2327
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,0)  african american(C,26|T,2)  total(C,56|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 702,(P,CCC) (S,TCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 702,(P,CCC) (S,TCC)



Context              (SEQ ID NO:4087):
CAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTC
K
CTCCGGAGTAAACCTTCTTCCCCGGGACCCGGTCCTGAGATCAAGAACCTAGACCAGGCTTTTCAAGTCAAGAAGCCCCCAGGCCAGGCTGTGCCCCAGG
Celera SNP ID:                hDV70791587
SNP Position Transcript:      2743
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 840,(S,TCG) (S,TCT)



Context              (SEQ ID NO:4088):
CTGGAGTGTGGCCCTTGGGAGTCCCCAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAGCGGCTTCAGGACTCTTGGGAGGAC
R
CAGCCATCCTCCTCTCCAACACCTCCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCC
Celera SNP ID:                hCV25763104
SNP Position Transcript:      776
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 185,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4089):
ACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGGCCAGGGTGAGGGTCAGGACCTCCCGCACCGGCTACAACGGGATCTGGAG
Y
GAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTGGGTGCTGGCCCTCATCGTGATCTTCCTCACCATCGCTGTGCTCCTGGCCC
Celera SNP ID:                hCV2481290
SNP Position Transcript:      1519
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,9)  african american(C,27|T,7)  total(C,56|T,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 432,(S,AGT) (S,AGC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,14|C,6) ; no_pop(T,20|C,158) ; no_pop(T,336
|C,1680)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 432,(S,AGT) (S,AGC)



Context              (SEQ ID NO:4090):
GAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGG
K
ACCGGGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGG
Celera SNP ID:                hCV8956916
SNP Position Transcript:      2181
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,88|T,1) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 653,(G,GGA) (V,GTA)



Context              (SEQ ID NO:4091):
GAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACCGGGACAGGCC
R
TGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGG
Celera SNP ID:                hCV8956922
SNP Position Transcript:      2195
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,4|A,174) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:450, 658,(V,GTG) (M,ATG)



Context              (SEQ ID NO:4092):
TGGAGCTCCCTCCAATTGAGGGCCGGTCCCCCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCC
R
GCAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCT
Celera SNP ID:                hCV8956923
SNP Position Transcript:      2641
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,32)  african american(A,0|G,8)  total(A,2|G,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 806,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,174)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 806,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4093):
CCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGCC
M
GAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGGAC
Celera SNP ID:                hCV16170528
SNP Position Transcript:      2671
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,238|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 816,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4094):
ACGTGACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGACCTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTG
Y
GTGCCCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACTACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCG
Celera SNP ID:                hCV25765291
SNP Position Transcript:      496
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,24|T,0)  total(C,57|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 91,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4095):
ACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTG
Y
TGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGG
Celera SNP ID:                hCV11486079
SNP Position Transcript:      925
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,19|T,5)  total(C,54|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:450, 234,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4096):
GACAGGCAAGGGGATGGAGAGGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGCCAAGGGGCAGCCTCCTGTCAAGGTAGCTAGA
R
GCCTGGGAAAGGAGATAGCCTTGCTCCGGCCCCCTTGACCTTCAGCAAATCACTTCTCTCCCTGCGCTCACACAGACACACACACACACACGTACATGCA
Celera SNP ID:                hCV25763207
SNP Position Transcript:      3050
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,6)  total(A,1|G,39)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4097):
CAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGTTAACTTATTTGTAGGTTCTGCATTATTAGAACTTTCTAGATATACTCATTCCA
W
CTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGA
Celera SNP ID:                hCV2228570
SNP Position Transcript:      3223
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4098):
ATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGAT
K
CAGCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAG
Celera SNP ID:                hCV8956929
SNP Position Transcript:      3342
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,89|G,3) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4099):
CAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGATGC
R
GCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAGGT
Celera SNP ID:                hCV30007120
SNP Position Transcript:      3344
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4100):
GAGCTTCTGGGGAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGT
S
GGCAGGCTGGCGGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCC
Celera SNP ID:                hCV30349123
SNP Position Transcript:      3706
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4101):
GAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGTGGGCAGGCTGG
Y
GGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCCAAAGGCATATA
Celera SNP ID:                hCV2479427
SNP Position Transcript:      3717
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Context              (SEQ ID NO:4102):
GGTATTTTTTAACTGGGCCAAGCCCATTAAGGTCTTTCTTCTGTTGGGTGCTATCATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCAC
R
GATGGTGGAGTGTTTTTCCCCCAAATCTGTTGTTTGTCTTATAATGTTGTATATGAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACA
Celera SNP ID:                hCV903886
SNP Position Transcript:      4164
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,1|A,4) ; no_pop(G,-|A,-) ; no_pop(G,124|A,2
04) ; no_pop(G,21|A,99)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:450, None



Gene Number:                  76
Celera Gene:                  hCG41445 - 83000099128601
Celera Transcript:            hCT32716 - 83000099128602
Public Transcript Accession:  NM_000395
Celera Protein:               hCP51335 - 197000064930412
Public Protein Accession:     NP_000386
Gene Symbol:                  CSF2RB
Protein Name:                  colony stimulating factor 2 receptor, beta, low-affinity (granulocyte
-macrophage)

Celera Genomic Axis:          GA_x5YUV32VU5C(15371201..15410031)
Chromosome:                   22
OMIM NUMBER:                  138981
OMIM Information:             Pulmonary alveolar proteinosis, 265120 (3)


Transcript Sequence  (SEQ ID NO:190):
GCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAAATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGACAC
TAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTGCCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTCCA
TGGCCCTGCTGGCCCTGTGCTGGGAGCGCAGCCTGGCAGGGGCAGAAGAAACCATCCCGCTGCAGACCCTGCGCTGCTACAACGACTACACCAGCCACAT
CACCTGCAGGTGGGCAGACACCCAGGATGCCCAGCGGCTCGTCAACGTGACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGAC
CTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTGCGTGCCCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACT
ACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCGTCACTCTGACCCAGCATGTCCAGCCTCCTGAGCCCAGGGACCTGCAGATCAGCAC
CGACCAGGACCACTTCCTGCTGACCTGGAGTGTGGCCCTTGGGAGTCCCCAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAG
CGGCTTCAGGACTCTTGGGAGGACGCAGCCATCCTCCTCTCCAACACCTCCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGG
CCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGC
CCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTA
TTCTACAAGCCCAGCCCAGATGCAGGGGAGGAAGAGTGCTCCCCAGTGCTGAGGGAGGGGCTCGGCAGCCTCCACACCAGGCACCACTGCCAGATTCCCG
TGCCCGACCCCGCGACCCACGGCCAATACATCGTCTCTGTTCAGCCAAGGAGGGCAGAGAAACACATAAAGAGCTCAGTGAACATCCAGATGGCCCCTCC
ATCCCTCAACGTGACCAAGGATGGAGACAGCTACAGCCTGCGCTGGGAAACAATGAAAATGCGATACGAACACATAGACCACACATTTGAGATCCAGTAC
AGGAAAGACACGGCCACGTGGAAGGACAGCAAGACCGAGACCCTCCAGAACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGG
CCAGGGTGAGGGTCAGGACCTCCCGCACCGGCTACAACGGGATCTGGAGTGAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTG
GGTGCTGGCCCTCATCGTGATCTTCCTCACCATCGCTGTGCTCCTGGCCCTCCGCTTCTGTGGCATCTACGGGTACAGGCTGCGCAGAAAGTGGGAGGAG
AAGATCCCCAACCCCAGCAAGAGCCACCTGTTCCAGAACGGGAGCGCAGAGCTTTGGCCCCCAGGCAGCATGTCGGCCTTCACTAGCGGGAGTCCCCCAC
ACCAGGGGCCGTGGGGCAGCCGCTTCCCTGAGCTGGAGGGGGTGTTCCCTGTAGGATTCGGGGACAGCGAGGTGTCACCTCTCACCATAGAGGACCCCAA
GCATGTCTGTGATCCACCATCTGGGCCTGACACGACTCCAGCTGCCTCAGATCTACCCACAGAGCAGCCCCCCAGCCCCCAGCCAGGCCCGCCTGCCGCC
TCCCACACACCTGAGAAACAGGCTTCCAGCTTTGACTTCAATGGGCCCTACCTGGGGCCGCCCCACAGCCGCTCCCTACCTGACATCCTGGGCCAGCCGG
AGCCCCCACAGGAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGC
CCAGGCGATGGGACCGGGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCT
CCTGCTCTTGGGCCAAGGGTGGGAGGACAGGACCAAAAGGACAGCCCTGTGGCTATACCCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTG
GTTATGTCTCCTCTGCAGACCTGGTATTCACCCCAAACTCAGGGGCCTCGTCTGTCTCCCTAGTTCCCTCTCTGGGCCTCCCCTCAGACCAGACCCCCAG
CTTATGTCCTGGGCTGGCCAGTGGACCCCCTGGAGCCCCAGGCCCTGTGAAGTCAGGGTTTGAGGGCTATGTGGAGCTCCCTCCAATTGAGGGCCGGTCC
CCCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGC
CCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGG
ACCCGGTCCTGAGATCAAGAACCTAGACCAGGCTTTTCAAGTCAAGAAGCCCCCAGGCCAGGCTGTGCCCCAGGTGCCCGTCATTCAGCTCTTCAAAGCC
CTGAAGCAGCAGGACTACCTGTCTCTGCCCCCTTGGGAGGTCAACAAGCCTGGGGAGGTGTGTTGAGACCCCCAGGCCTAGACAGGCAAGGGGATGGAGA
GGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGCCAAGGGGCAGCCTCCTGTCAAGGTAGCTAGAGGCCTGGGAAAGGAGATAGC
CTTGCTCCGGCCCCCTTGACCTTCAGCAAATCACTTCTCTCCCTGCGCTCACACAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGT
TAACTTATTTGTAGGTTCTGCATTATTAGAACTTTCTAGATATACTCATTCCATCTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTT
CTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGATGCAGCTGGTTGTGTTGAGGACTTGTGTG
GGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAGGTGGGCACCCGTGGGGGTTAGGGCTTG
GAAGAGTGGCACAGGACTGGGCACGCTCAGTGAGGCTCAGGGAATTCAGACTAGCCTCGATTGTCACTCCGAGAAATGGGCATGGTATTGGGGGTCGGGG
GGGCGGTGCAAGGGACGCACATGAGAGACTGTTTGGGAGCTTCTGGGGAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGAC
CCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGTGGGCAGGCTGGCGGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAA
AAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCCAAAGGCATATATGCTTTAGGGCCTTTGGTCCAAATGGCCCGGGTGGCCACTCTTCCAGATAGA
CCAGGCAACTCTCCCTCCCACCGGCCACAGATGAGGGGCTGCTGATCTATGCCTGGGCCTGCACCAGGGATTATGGTTCTTTTAAATCTTTGCCTTTCAG
ATACAGGAAAAATAATGGCATTAAATTGCTTTAATTTGCATTATTTTAGTTATCCAGTTTGCACATATTTTTATAGGTATCTTAGGCATCGATTGGTATT
TTTTAACTGGGCCAAGCCCATTAAGGTCTTTCTTCTGTTGGGTGCTATCATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCACAGATGG
TGGAGTGTTTTTCCCCCAAATCTGTTGTTTGTCTTATAATGTTGTATATGAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACAGATCC
CTAGTAAACTCCTTCTTCACTTTTACTGTCAGATTTACAAAGGTCCTCCCATTGCAAAGCAGTGTTTGTCCTAATTTATATATTGTTTTTCTAGTTCATT
TTGTGTTTCCAACTTTTCATGTAAAATTTTAATTATTTTTGAATGTGTGGATGTGAGACTGAGGTGCCTTTTGGTACTGAAATTCTTTTTCCATGTACCT
GAAGTGTTACTTTTGTGATATAGGAAATCCTTGTATATATACTTTATTGGTCCCTAGGCTTCCTATTTTGTTACCTTGCTTTCTCTATGGCATCCACCAT
TTTGATTGTTCTACTTTTATGATATGTTTTCATAAGTGGTTAAGCAAGTATTCTCGTTACTTTTGCTCTTAAATCCCTATTCATTACAGCAATGTTGGTG
GTCAAAGAAAATGATAAACAACTTGAATGTTCAATGGTCCTGAAATACATAACAACATTTTAGTACATTGTAAAGTAGAATCCTCTGTTCATAATGAACA
AGATGAACCAATGTGGATTAGAAAGAAGTCCGAGATATTAATTCCAAAATATCCAGACATTGTTAAAGGGAAAAAATTGCAATAAAATATTTGTAACATA
AAACAAAGTGAAACCCTGAA


Protein Sequence     (SEQ ID NO:451):
MVLAQGLLSMALLALCWERSLAGAEETIPLQTLRCYNDYTSHITCRWADTQDAQRLVNVTLIRRVNEDLLEPVSCDLSDDMPWSACPHPRCVPRRCVIPC
QSFVVTDVDYFSFQPDRPLGTRLTVTLTQHVQPPEPRDLQISTDQDHFLLTWSVALGSPQSHWLSPGDLEFEVVYKRLQDSWEDAAILLSNTSQATLGPE
HLMPSSTYVARVRTRLAPGSRLSGRPSKWSPEVCWDSQPGDEAQPQNLECFFDGAAVLSCSWEVRKEVASSVSFGLFYKPSPDAGEEECSPVLREGLGSL
HTRHHCQIPVPDPATHGQYIVSVQPRRAEKHIKSSVNIQMAPPSLNVTKDGDSYSLRWETMKMRYEHIDHTFEIQYRKDTATWKDSKTETLQNAHSMALP
ALEPSTRYWARVRVRTSRTGYNGIWSEWSEARSWDTESVLPMWVLALIVIFLTIAVLLALRFCGIYGYRLRRKWEEKIPNPSKSHLFQNGSAELWPPGSM
SAFTSGSPPHQGPWGSRFPELEGVFPVGFGDSEVSPLTIEDPKHVCDPPSGPDTTPAASDLPTEQPPSPQPGPPAASHTPEKQASSFDFNGPYLGPPHSR
SLPDILGQPEPPQEGGSQKSPPPGSLEYLCLPAGGQVQLVPLAQAMGPGQAVEVERRPSQGAAGSPSLESGGGPAPPALGPRVGGQDQKDSPVAIPMSSG
DTEDPGVASGYVSSADLVFTPNSGASSVSLVPSLGLPSDQTPSLCPGLASGPPGAPGPVKSGFEGYVELPPIEGRSPRSPRNNPVPPEAKSPVLNPGERP
ADVSPTSPQPEGLLVLQQVGDYCFLPGLGPGPLSLRSKPSSPGPGPEIKNLDQAFQVKKPPGQAVPQVPVIQLFKALKQQDYLSLPPWEVNKPGEVC*



SNP Information


Context              (SEQ ID NO:4103):
CCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTGCTGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTG
S
AGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGGTGGCCAGCTCGGTCTCCTTTGGCCTATTCTACAAGCCCAGCCC
Celera SNP ID:                hCV11486078
SNP Position Transcript:      917
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 249,(E,GAG) (Q,CAG)



Context              (SEQ ID NO:4104):
GTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACC
R
GGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAA
Celera SNP ID:                hCV2228571
SNP Position Transcript:      2116
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,8|G,30)  african american(A,13|G,23)  total(A,21|G,53)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 648,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,36|A,144)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 648,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4105):
GCCTGGAGGAGGCAGAGGCCAGGAGGGAGAGGTCCCAAGAGCCTGTGAAATGGGTCTGGCCTGGCTCCCAGCTGGGCAGGAACACAGGACTTCAGGA
Y
ACTAAGGACCCTGTCATGCCCATGGCCAGCACCCACCAGTGCTGGTGCCTGCCTGTCCAGAGCTGACCAGGGAGATGGTGCTGGCCCAGGGGCTGCTCTC
Celera SNP ID:                hCV25763299
SNP Position Transcript:      98
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|T,2)  african american(C,11|T,1)  total(C,35|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4106):
CCAGCCAGGCCCGCCTGCCGCCTCCCACACACCTGAGAAACAGGCTTCCAGCTTTGACTTCAATGGGCCCTACCTGGGGCCGCCCCACAGCCGCTCCCTA
M
CTGACATCCTGGGCCAGCCGGAGCCCCCACAGGAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCA
Celera SNP ID:                hCV2228574
SNP Position Transcript:      1979
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,5|A,84)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 603,(P,CCT) (T,ACT)



Context              (SEQ ID NO:4107):
TGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGGACAGGACCAAAAGGACAGCCCTGTGGCTATA
Y
CCATGAGCTCTGGGGACACTGAGGACCCTGGAGTGGCCTCTGGTTATGTCTCCTCTGCAGACCTGGTATTCACCCCAAACTCAGGGGCCTCGTCTGTCTC
Celera SNP ID:                hCV25766067
SNP Position Transcript:      2258
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,0)  african american(C,26|T,2)  total(C,56|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 696,(P,CCC) (S,TCC)

SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 696,(P,CCC) (S,TCC)



Context              (SEQ ID NO:4108):
CAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTC
K
CTCCGGAGTAAACCTTCTTCCCCGGGACCCGGTCCTGAGATCAAGAACCTAGACCAGGCTTTTCAAGTCAAGAAGCCCCCAGGCCAGGCTGTGCCCCAGG
Celera SNP ID:                hDV70791587
SNP Position Transcript:      2674
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 834,(S,TCG) (S,TCT)



Context              (SEQ ID NO:4109):
CTGGAGTGTGGCCCTTGGGAGTCCCCAGAGCCACTGGTTGTCCCCAGGGGATCTGGAGTTTGAGGTGGTCTACAAGCGGCTTCAGGACTCTTGGGAGGAC
R
CAGCCATCCTCCTCTCCAACACCTCCCAGGCCACCCTGGGGCCAGAGCACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCC
Celera SNP ID:                hCV25763104
SNP Position Transcript:      725
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 185,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4110):
ACGCCCACAGCATGGCCCTGCCAGCCCTGGAGCCCTCCACCAGGTACTGGGCCAGGGTGAGGGTCAGGACCTCCCGCACCGGCTACAACGGGATCTGGAG
Y
GAGTGGAGTGAGGCGCGCTCCTGGGACACCGAGTCGGTGCTGCCTATGTGGGTGCTGGCCCTCATCGTGATCTTCCTCACCATCGCTGTGCTCCTGGCCC
Celera SNP ID:                hCV2481290
SNP Position Transcript:      1450
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,29|T,9)  african american(C,27|T,7)  total(C,56|T,16)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 426,(S,AGT) (S,AGC)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,14|C,6) ; no_pop(T,20|C,158) ; no_pop(T,336
|C,1680)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 426,(S,AGT) (S,AGC)



Context              (SEQ ID NO:4111):
GAGGGTGGGAGCCAGAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGG
K
ACCGGGACAGGCCGTGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGG
Celera SNP ID:                hCV8956916
SNP Position Transcript:      2112
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,88|T,1) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 647,(G,GGA) (V,GTA)



Context              (SEQ ID NO:4112):
GAAGTCCCCACCTCCAGGGTCCCTGGAGTACCTGTGTCTGCCTGCTGGGGGGCAGGTGCAACTGGTCCCTCTGGCCCAGGCGATGGGACCGGGACAGGCC
R
TGGAAGTGGAGAGAAGGCCGAGCCAGGGGGCTGCAGGGAGTCCCTCCCTGGAGTCCGGGGGAGGCCCTGCCCCTCCTGCTCTTGGGCCAAGGGTGGGAGG
Celera SNP ID:                hCV8956922
SNP Position Transcript:      2126
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,178|A,6) ; no_pop(G,4|A,174) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:451, 652,(V,GTG) (M,ATG)



Context              (SEQ ID NO:4113):
TGGAGCTCCCTCCAATTGAGGGCCGGTCCCCCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCC
R
GCAGATGTGTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCT
Celera SNP ID:                hCV8956923
SNP Position Transcript:      2572
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,32)  african american(A,0|G,8)  total(A,2|G,40)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 800,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,4|A,174)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 800,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4114):
CCAGGTCACCAAGGAACAATCCTGTCCCCCCTGAGGCCAAAAGCCCTGTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAACATCCCCACAGCC
M
GAGGGCCTCCTTGTCCTGCAGCAAGTGGGCGACTATTGCTTCCTCCCCGGCCTGGGGCCCGGCCCTCTCTCGCTCCGGAGTAAACCTTCTTCCCCGGGAC
Celera SNP ID:                hCV16170528
SNP Position Transcript:      2602
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-) ; no_pop(C,238|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 810,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4115):
ACGTGACCCTCATTCGCCGGGTGAATGAGGACCTCCTGGAGCCAGTGTCCTGTGACCTCAGTGATGACATGCCCTGGTCAGCCTGCCCCCATCCCCGCTG
Y
GTGCCCAGGAGATGTGTCATTCCCTGCCAGAGTTTTGTCGTCACTGACGTTGACTACTTCTCATTCCAACCAGACAGGCCTCTGGGCACCCGGCTCACCG
Celera SNP ID:                hCV25765291
SNP Position Transcript:      445
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,24|T,0)  total(C,57|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 91,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4116):
ACCTCATGCCCAGCAGCACCTACGTGGCCCGAGTACGGACCCGCCTGGCCCCAGGTTCTCGGCTCTCAGGACGTCCCAGCAAGTGGAGCCCAGAGGTTTG
Y
TGGGACTCCCAGCCAGGGGATGAGGCCCAGCCCCAGAACCTGGAGTGCTTCTTTGACGGGGCCGCCGTGCTCAGCTGCTCCTGGGAGGTGAGGAAGGAGG
Celera SNP ID:                hCV11486079
SNP Position Transcript:      874
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,35|T,3)  african american(C,19|T,5)  total(C,54|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:451, 234,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4117):
GACAGGCAAGGGGATGGAGAGGGCTTGCCTTCCCTCCCGCCTGACCTTCCTCAGTCATTTCTGCAAAGCCAAGGGGCAGCCTCCTGTCAAGGTAGCTAGA
R
GCCTGGGAAAGGAGATAGCCTTGCTCCGGCCCCCTTGACCTTCAGCAAATCACTTCTCTCCCTGCGCTCACACAGACACACACACACACACGTACATGCA
Celera SNP ID:                hCV25763207
SNP Position Transcript:      2981
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,6)  total(A,1|G,39)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4118):
CAGACACACACACACACACGTACATGCACACATTTTTCCTGTCAGGTTAACTTATTTGTAGGTTCTGCATTATTAGAACTTTCTAGATATACTCATTCCA
W
CTCCCCCTCATTTTTTTAATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGA
Celera SNP ID:                hCV2228570
SNP Position Transcript:      3154
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4119):
ATCAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGAT
K
CAGCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAG
Celera SNP ID:                hCV8956929
SNP Position Transcript:      3273
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,89|G,3) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4120):
CAGGTTTCCTTGCTTTTGCCATTTTTCTTCCTTCTTTTTTCACTGATTTATTATGAGAGTGGGGCTGAGGTCTGAGCTGAGCCTTATCAGACTGAGATGC
R
GCTGGTTGTGTTGAGGACTTGTGTGGGCTGCCTGTCCCCGGCAGTCGCTGATGCACATGACATGATTCTCATCTGGGTGCAGAGGTGGGAGGCACCAGGT
Celera SNP ID:                hCV30007120
SNP Position Transcript:      3275
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4121):
GAGCTTCTGGGGAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGT
S
GGCAGGCTGGCGGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCC
Celera SNP ID:                hCV30349123
SNP Position Transcript:      3637
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4122):
GAGCCCTGCTAGTTGTCTCAGTGATGTCTGTGGGACCTCCAGTCCCTTGAGACCCCACGTCATGTAGAGAAGTTAACGGCCCAAGTGGTGGGCAGGCTGG
Y
GGGACCTGGGGAACATCAGGAGAGGAGTCCAGAGCCCACGTCTACTGCGGAAAAGTCAGGGGAAACTGCCAAACAAAGGAAAATGCCCCAAAGGCATATA
Celera SNP ID:                hCV2479427
SNP Position Transcript:      3648
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Context              (SEQ ID NO:4123):
GGTATTTTTTAACTGGGCCAAGCCCATTAAGGTCTTTCTTCTGTTGGGTGCTATCATTTTCTGATTAAGTCTTTTTGACTATTGACATACAGTCTTTCAC
R
GATGGTGGAGTGTTTTTCCCCCAAATCTGTTGTTTGTCTTATAATGTTGTATATGAGGTTTTATGGTGTATGAATATGAATGCTTCTGTAATGTCAAACA
Celera SNP ID:                hCV903886
SNP Position Transcript:      4095
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,1|A,4) ; no_pop(G,-|A,-) ; no_pop(G,124|A,2
04) ; no_pop(G,21|A,99)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:451, None



Gene Number:                  77
Celera Gene:                  hCG41614 - 84000315028804
Celera Transcript:            hCT32886 - 84000315028805
Public Transcript Accession:  NM_018134
Celera Protein:               hCP51498 - 197000064953563
Public Protein Accession:     NP_060604
Gene Symbol:                  FLJ10547
Protein Name:                  hypothetical protein FLJ10547
Celera Genomic Axis:          GA_x5YUV32W802(50934741..50949758)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:191):
AGTTGGCGCCCATGGAGCCAGAGCTGCTGGTTCGGAAGGTGTCTGCATTGCAGGCCTGCGTCCGGGGCTTCTTGGTCCGACGCCAGTTCCAGAGCCTGCG
AGCTGAGTATGAGGCGATTGTACGAGAGGTCGAGGGCGACCTGGGCACGCTTCAGTGGACCGAGGGCCGCATTCCCAGGCCGCGATTCCTCCCAGAGAAG
GCAAAATCCCATCAGACCTGGAAAGCAGGAGACAGGGTAGCAAATCCAGAGCAGGGGCTGTGGAACCACTTCCCATGTGAAGAGTCTGAGGGAGAGGCCA
CCTGGGAGGAGATGGTGCTGAAGAAGTCAGGAGAGAGCTCAGCAAATCAAGGAAGCCTCTGCAGAGATCACAGCTCCTGGCTTCAGATGAAGCAGAACAG
GAAACCCAGCCAAGAGAAGACCAGAGACACGACAAGGATGGAGAATCCAGAAGCCACAGATCAAAGACTGCCCCACAGCCAACCTCAGCTTCAAGAGCTT
CAGTACCACCGCAGCCACTTGGCCATGGAATTGCTGTGGCTGCAACAGGCCATCAATAGCCGTAAGGAGTACCTACTTCTTAAACAAACACTGAGATCCC
CAGAGGCGGGCCCGATCAGAGAGGAACCCCGCGTGTTCCTAGAACATGGGGAACAGGCCTGTGAGAGGGACCAGTCACAACCAAGCGCACCACTGGAGGA
CCAGTCCTACAGAGACAGGACCACTGGAGAGCTAGAACAGGAGGATGACTCCTGTCACAGGGTCAAATCACCCCACAGATCCCCAGGAAGTTTGGCCACT
ACACAAAAAAACATTGCTGGGGCTAAGTGCAGAGAACCATGCTACAGCAAGTCTGGACCACCGTCGTCTATACCATCAAACAGCCAGGCCTTGGGGGACA
GGCTCACCAAAGGGCCAGACGATGGAAGACAGACCTTTGGAGGGACCTGCCTGCTGCAGATGAAAATCCTGGAGGACCAGACCCCCAGAGGTTTAAAACC
TAGGAACCATTGTCCCAGGAAGTCCAGGACACAGCTGTCTGCACTCTATGAGGACTCAAATATTAAGGAGATGTCTCCCAGAAAACTAGACCACAAAGAG
CCTGACTGCCGAACAGTCAGGACACAAGAGTTGGGCCTCTCAGAGGACCACATCATCTGGGATGGTACCTTGGGGGGGCCAGAGCATAGTGTCCTCGATC
TCTGGAGGACTAAACCACCCAAAGGCCAGGCCCCCACTGATAGAAGCTCCAGAGATGGAACCTCCAATGAGCCTAGTCATGAAGGACAGAAAAAGCAGAG
GACTATACCATGGAGATCAAAGTCACCTGAGATTCTGTCTTCTACAAAGGCAGGCTGTACAGGAGAGGAACAGTGGAGGGGCAGGCCATGGAAAACAGAA
CCACCTGGCTAGACCCTAGGAAGCCAGGAGAGGATCAGGTTCCAAAGGGGAATGCTATGAAAGGGCAGTGAGACAAGACCTCATCCTACCTCCCTGACCA
GCTCTGGCTTCTGCTCCTGCCCCTGGCCATTGGTGACTAGTGGGGCCAAGAGAAGCTGGAGCAGAGAGCTGGCATGAGTATAGGGAAGGAGGAAGGACAC
ATTTTCAATCCTCTGCCTGTAGCTCAATCCAAATTTGTGGATAAGGGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTG
AGTGGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGACCAACATGGTGAAATGAAACCCCATCTCAACTAAAAATATAAAAATTAGCCAGGCGTGGTG
GTGCATGCCTGTAGTCCCAGTTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGATGGAGATTGCAGTAGGCCAAGATGATGCCACTGCAC
TCCAGCCTGGGCTACAGAGCGAGACACGGTCTCAAAAAACAAATGTGTGGCTAAGGAGTTACCTGGGGGAAGTAGAATGAGAGGTCTGTTGGGAATAAAG
GTTTTTCTTAGATTCTG


Protein Sequence     (SEQ ID NO:452):
MEPELLVRKVSALQACVRGFLVRRQFQSLRAEYEAIVREVEGDLGTLQWTEGRIPRPRFLPEKAKSHQTWKAGDRVANPEQGLWNHFPCEESEGEATWEE
MVLKKSGESSANQGSLCRDHSSWLQMKQNRKPSQEKTRDTTRMENPEATDQRLPHSQPQLQELQYHRSHLAMELLWLQQAINSRKEYLLLKQTLRSPEAG
PIREEPRVFLEHGEQACERDQSQPSAPLEDQSYRDRTTGELEQEDDSCHRVKSPHRSPGSLATTQKNIAGAKCREPCYSKSGPPSSIPSNSQALGDRLTK
GPDDGRQTFGGTCLLQMKILEDQTPRGLKPRNHCPRKSRTQLSALYEDSNIKEMSPRKLDHKEPDCRTVRTQELGLSEDHIIWDGTLGGPEHSVLDLWRT
KPPKGQAPTDRSSRDGTSNEPSHEGQKKQRTIPWRSKSPEILSSTKAGCTGEEQWRGRPWKTEPPG*



SNP Information


Context              (SEQ ID NO:4124):
CGTAAGGAGTACCTACTTCTTAAACAAACACTGAGATCCCCAGAGGCGGGCCCGATCAGAGAGGAACCCCGCGTGTTCCTAGAACATGGGGAACAGGCCT
R
TGAGAGGGACCAGTCACAACCAAGCGCACCACTGGAGGACCAGTCCTACAGAGACAGGACCACTGGAGAGCTAGAACAGGAGGATGACTCCTGTCACAGG
Celera SNP ID:                hCV2524821
SNP Position Transcript:      661
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,7|A,3)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:452, 217,(C,TGT) (Y,TAT)



Context              (SEQ ID NO:4125):
CCAGAAAACTAGACCACAAAGAGCCTGACTGCCGAACAGTCAGGACACAAGAGTTGGGCCTCTCAGAGGACCACATCATCTGGGATGGTACCTTGGGGGG
K
CCAGAGCATAGTGTCCTCGATCTCTGGAGGACTAAACCACCCAAAGGCCAGGCCCCCACTGATAGAAGCTCCAGAGATGGAACCTCCAATGAGCCTAGTC
Celera SNP ID:                hCV2248618
SNP Position Transcript:      1178
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,276|T,-) ; no_pop(G,8|T,1) ; no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:452, 389,(G,GGG) (G,GGT)



Context              (SEQ ID NO:4126):
TGGCTGCAACAGGCCATCAATAGCCGTAAGGAGTACCTACTTCTTAAACAAACACTGAGATCCCCAGAGGCGGGCCCGATCAGAGAGGAACCCCGCGTGT
K
CCTAGAACATGGGGAACAGGCCTGTGAGAGGGACCAGTCACAACCAAGCGCACCACTGGAGGACCAGTCCTACAGAGACAGGACCACTGGAGAGCTAGAA
Celera SNP ID:                hCV8853894
SNP Position Transcript:      637
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,172|G,12) ; no_pop(T,20|G,2) ; no_pop(T,-|G,-) ; no_pop(T,-|G
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:452, 209,(F,TTC) (C,TGC)



Context              (SEQ ID NO:4127):
CAGAGGACCACATCATCTGGGATGGTACCTTGGGGGGGCCAGAGCATAGTGTCCTCGATCTCTGGAGGACTAAACCACCCAAAGGCCAGGCCCCCACTGA
Y
AGAAGCTCCAGAGATGGAACCTCCAATGAGCCTAGTCATGAAGGACAGAAAAAGCAGAGGACTATACCATGGAGATCAAAGTCACCTGAGATTCTGTCTT
Celera SNP ID:                hCV25972623
SNP Position Transcript:      1241
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,40)  african american(C,2|T,32)  total(C,2|T,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:452, 410,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4128):
GATCAGAGAGGAACCCCGCGTGTTCCTAGAACATGGGGAACAGGCCTGTGAGAGGGACCAGTCACAACCAAGCGCACCACTGGAGGACCAGTCCTACAGA
S
ACAGGACCACTGGAGAGCTAGAACAGGAGGATGACTCCTGTCACAGGGTCAAATCACCCCACAGATCCCCAGGAAGTTTGGCCACTACACAAAAAAACAT
Celera SNP ID:                hCV30988489
SNP Position Transcript:      714
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:452, 235,(D,GAC) (H,CAC)



Context              (SEQ ID NO:4129):
TAAGTGCAGAGAACCATGCTACAGCAAGTCTGGACCACCGTCGTCTATACCATCAAACAGCCAGGCCTTGGGGGACAGGCTCACCAAAGGGCCAGACGAT
R
GAAGACAGACCTTTGGAGGGACCTGCCTGCTGCAGATGAAAATCCTGGAGGACCAGACCCCCAGAGGTTTAAAACCTAGGAACCATTGTCCCAGGAAGTC
Celera SNP ID:                hCV25958063
SNP Position Transcript:      924
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:452, 305,(G,GGA) (R,AGA)



Context              (SEQ ID NO:4130):
AAAGTCACCTGAGATTCTGTCTTCTACAAAGGCAGGCTGTACAGGAGAGGAACAGTGGAGGGGCAGGCCATGGAAAACAGAACCACCTGGCTAGACCCTA
K
GAAGCCAGGAGAGGATCAGGTTCCAAAGGGGAATGCTATGAAAGGGCAGTGAGACAAGACCTCATCCTACCTCCCTGACCAGCTCTGGCTTCTGCTCCTG
Celera SNP ID:                hCV27916651
SNP Position Transcript:      1419
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:452, None



Gene Number:                  78
Celera Gene:                  hCG41618 - 84000315019967
Celera Transcript:            hCT1953997 - 84000315019968
Public Transcript Accession:  NM_019118
Celera Protein:               hCP1766403 - 197000064953639
Public Protein Accession:     NP_061991
Gene Symbol:                  RP4-622L5
Protein Name:                  hypothetical protein RP4-622L5
Celera Genomic Axis:          GA_x5YUV32W802(50921080..50940957)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:192):
CGGAAGTAGAAGACAGCGGCGTTGCCATGGCGGCGTCTCTGGGGCAGGTGTTGGCTCTGGTGCTGGTGGCCGCTCTGTGGGGTGGCACGCAGCCGCTGCT
GAAGCGGGCCTCCGCCGGCCTGCAGCGGGTTCATGAGCCGACCTGGGCCCAGCAGTTGCTACAGGAGATGAAGACCCTCTTCTTGAATACTGAGTACCTG
ATGCCCTTTCTCCTCAACCAGTGTGGATCCCTTCTCTATTACCTCACCTTGGCATCGACAGATCTGACCCTGGCTGTGCCCATCTGTAACTCTCTGGCTA
TCATCTTCACACTGATTGTTGGGAAGGCCCTTGGAGAAGATATTGGTGGAAAACGAGCAGTTGCTGGCATGGTGCTCACCGTGATAGGAATTTCACTCTG
CATCACAAGCTCAGTTCCATGGACTGCAGAACTCCAGCTGCATGGAAAGGGCCAGCTGCAGACTTTGAGCCAGAAATGCAAACGGGAGGCCTCTGGGACT
CAGTCAGAGCGCTTTGGCTGAATGAGGGGTGGAACCGAGGGAAGAAGGTAGAGAGCTGTGAGCCCCAGCCCCACCTGACTCCAGCACACCTGGCGAGTAG
TAGCTGTCAATAAATCTATGGTAAACAGACAAGAGGAGGTGGAAGGCCATACAGAATGGAGCCGTGAGTATGGCCAGCCTCCAGCTCTCAGCCAGGAGGT
CCCCAACCCCAAGGAAGGAAGAAACTGGAAATTAGGAACTGCTTCCTCATTTAACAAGGTAGGAAGTTAGGAGATCATTTACTTTCAATCACAAGGGAGG
AGAACTGTTCCTGGGGCCCAAGGCTGCCAGTTTCCAGCTCAGAGCTCCTCCCACCCCAACATACTGTTTCCTGATCCAACAGCTTACCTGATCCAAGGGC
TCCTCTGTCTGAGTGTCTTCATCATCTGCTACTTCCAGGGCCCCCGCTGTCTCCTTCCTTCGGTGGGGAGCTCCATATACTCCTATAACTCCTAAAGAGG
GGAGGCAGCACTGGGTGATGCCCAGGCTGAAGAGCCCTCAGCATTCCTGCCCTGGACCTTCATGCTAGCCCCTTTCCCTCCCCTGAACCTGGTTCTGCAT
TCCCCACCACCTCCCAGGATGGCAAGGAAGTGAGAGGTGGGCCTTTGGTCCCACCCCCATCCCCTCTATATCCCACCCCTGAAGTCTTATCGCTTTAAGC
ACTGCCCTTTCCAGGTGCTTCTTTTCATGTGATGAGGCCCTGTGAAGAAGGGACAGGATATACAGACGGGGGCAGCTGGAGACAGTTATGATGAGTGCCG
GCTTTGTGTCTGAGCATTCTGCTCCCATGGACATCCCCAACAACAGCAGGGACCAACCTATGTCACTGTCAAAGGGCAGCTGAGAAGGGCCTGAGCCCCA
GGGACCCCTCACCTGATGGGAATGAGAGTGTGGGGAGCTTGCTTCTTGGCTGAATGGTCTGCTGGGGTCTGGCATAGAAAGCAGATGGCTTAATTCGGTC
TGGTTCCTTTGGAGAGGGCTGGGTTACCTGGGCCCTGTGGCCTTGGGCCTAGAGAAGGGACACTGGGCTTGGACCCTGATTGCTGGCCATTCTTACCTTT
CCTACTCCCCAGTTCAGGCTTCAGAGAGCCCCTGACGCCTGCAGGAACATGGCAGAGGAGACACCGTCTGTCTTCACAAAGTACGTCCTCCCTCCTTGCT
GCCTCTTCCCACCAGCCTGACTTATCCAGGGACAGAGCAGTAGATGCCTGGCACTCCTCGATGCCCAGTGAAACCAGACTGTGCTTCCCCACCCCCACCA
CCATGCCCCATGCTCACTGGCTCATTTCTTGGGAGGGCTTAGAGCTGGATAATATAAGTTCCCTTGGACCCTG


Protein Sequence     (SEQ ID NO:453):
MAASLGQVLALVLVAALWGGTQPLLKRASAGLQRVHEPTWAQQLLQEMKTLFLNTEYLMPFLLNQCGSLLYYLTLASTDLTLAVPICNSLAIIFTLIVGK
ALGEDIGGKRAVAGMVLTVIGISLCITSSVPWTAELQLHGKGQLQTLSQKCKREASGTQSERFG*



SNP Information


Context              (SEQ ID NO:4131):
TACTGTTTCCTGATCCAACAGCTTACCTGATCCAAGGGCTCCTCTGTCTGAGTGTCTTCATCATCTGCTACTTCCAGGGCCCCCGCTGTCTCCTTCCTTC
K
GTGGGGAGCTCCATATACTCCTATAACTCCTAAAGAGGGGAGGCAGCACTGGGTGATGCCCAGGCTGAAGAGCCCTCAGCATTCCTGCCCTGGACCTTCA
Celera SNP ID:                hCV3110585
SNP Position Transcript:      962
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,5|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:453, None



Context              (SEQ ID NO:4132):
ACTGTTTCCTGATCCAACAGCTTACCTGATCCAAGGGCTCCTCTGTCTGAGTGTCTTCATCATCTGCTACTTCCAGGGCCCCCGCTGTCTCCTTCCTTCG
K
TGGGGAGCTCCATATACTCCTATAACTCCTAAAGAGGGGAGGCAGCACTGGGTGATGCCCAGGCTGAAGAGCCCTCAGCATTCCTGCCCTGGACCTTCAT
Celera SNP ID:                hCV11860202
SNP Position Transcript:      963
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,5|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:453, None



Gene Number:                  78
Celera Gene:                  hCG41618 - 84000315019967
Celera Transcript:            hCT2334172 - 84000315019993
Public Transcript Accession:  NM_019118
Celera Protein:               hCP1811000 - 197000064953641
Public Protein Accession:     NP_061991
Gene Symbol:                  RP4-622L5
Protein Name:                  hypothetical protein RP4-622L5
Celera Genomic Axis:          GA_x5YUV32W802(50921080..50940957)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:193):
CGGAAGTAGAAGACAGCGGCGTTGCCATGGCGGCGTCTCTGGGGCAGGTGTTGGCTCTGGTGCTGGTGGCCGCTCTGTGGGGTGGCACGCAGCCGCTGCT
GAAGCGGGCCTCCGCCGGCCTGCAGCGGGTTCATGAGCCGACCTGGGCCCAGCAGTTGCTACAGGAGATGAAGACCCTCTTCTTGAATACTGAGTACCTG
ATGCCCTTTCTCCTCAACCAGTGTGGATCCCTTCTCTATTACCTCACCTTGGCATCGACAGATCTGACCCTGGCTGTGCCCATCTGTAACTCTCTGGCTA
TCATCTTCACACTGATTGTTGGGAAGGCCCTTGGAGAAGATATTGGTGGAAAACGAGCAGTTGCTGGCATGGTGCTCACCGTGATAGGAATTTCACTCTG
CATCACAAGCTCAGTTCCATGGACTGCAGAACTCCAGCTGCATGGAAAGGGCCAGCTGCAGACTTTGAGCCAGAAATGCAAACGGGAGGCCTCTGGGACT
CAGTCAGAGCGCTTTGGCTGAATGAGGGGTGGAACCGAGGGAAGAAGGTAGAGAGCTGTGAGCCCCAGCCCCACCTGACTCCAGCACACCTGGCGAGTAG
TAGCTGTCAATAAATCTATGGTAAACAGACAAGAGGAGGTGGAAGGCCATACAGAATGGAGCCGTGAGTATGGCCAGCCTCCAGCTCTCAGCCAGGAGGT
CCCCAACCCCAAGGAAGGAAGAAACTGGAAATTAGGAACTGCTTCCTCATTTAACAAGGTGCTTCTTTTCATGTGATGAGGCCCTGTGAAGAAGGGACAG
GATATACAGACGGGGGCAGCTGGAGACAGTTATGATGAGTGCCGGCTTTGTGTCTGAGCATTCTGCTCCCATGGACATCCCCAACAACAGCAGGGACCAA
CCTATGTCACTGTCAAAGGGCAGCTGAGAAGGGCCTGAGCCCCAGGGACCCCTCACCTGATGGGAATGAGAGTGTGGGGAGCTTGCTTCTTGGCTGAATG
GTCTGCTGGGGTCTGGCATAGAAAGCAGATGGCTT


Protein Sequence     (SEQ ID NO:454):
MAASLGQVLALVLVAALWGGTQPLLKRASAGLQRVHEPTWAQQLLQEMKTLFLNTEYLMPFLLNQCGSLLYYLTLASTDLTLAVPICNSLAIIFTLIVGK
ALGEDIGGKRAVAGMVLTVIGISLCITSSVPWTAELQLHGKGQLQTLSQKCKREASGTQSERFG*



SNP Information


Gene Number:                  78
Celera Gene:                  hCG41618 - 84000315019967
Celera Transcript:            hCT32890 - 84000315019981
Public Transcript Accession:  NM_019118
Celera Protein:               hCP51510 - 197000064953640
Public Protein Accession:     NP_061991
Gene Symbol:                  RP4-622L5
Protein Name:                  hypothetical protein RP4-622L5
Celera Genomic Axis:          GA_x5YUV32W802(50921080..50940957)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:194):
CGGAAGTAGAAGACAGCGGCGTTGCCATGGCGGCGTCTCTGGGGCAGGTGTTGGCTCTGGTGCTGGTGGCCGCTCTGTGGGGTGGCACGCAGCCGCTGCT
GAAGCGGGCCTCCGCCGGCCTGCAGCGGGTTCATGAGCCGACCTGGGCCCAGCAGTTGCTACAGGAGATGAAGACCCTCTTCTTGAATACTGAGTACCTG
ATGCCCTTTCTCCTCAACCAGTGTGGATCCCTTCTCTATTACCTCACCTTGGCATCGACAGATCTGACCCTGGCTGTGCCCATCTGTAACTCTCTGGCTA
TCATCTTCACACTGATTGTTGGGAAGGCCCTTGGAGAAGATATTGGTGGAAAACGAGCAGTTGCTGGCATGGTGCTCACCGTGATAGGAATTTCACTCTG
CATCACAAGCTCAGTGAGTAAGACCCAGGGGCAACAGTCTACCCTTTGAGTGGGCCGAACCCACTTCCAGCTCTGCTGCCTCCAGGAAGCCCCTGGGCCA
TGAAGTGCTGGCAGTGAGCGGATGGACCTAGCACTTCCCCTCTCTGGCCTTAGCTTCCTCCTCTCTTATGGGGATAACAGCTACCTCATGGATCACAATA
AGAGAACAAGAGTGAAAGAGTTTTGTAACCTTCAAGTGCTGTTCAGCTGCGGGGATTTAGCACAGGAGACTCTACGCTCACCCTCAGCAACCTTTCTGCC
CCAGCAGCTCTCTTCCTGCTAACATCTCAGGCTCCCAGCCCAGCCACCATTACTGTGGCCTGATCTGGACTATCATGGTGGCAGGTTCCATGGACTGCAG
AACTCCAGCTGCATGGAAAGGGCCAGCTGCAGACTTTGAGCCAGAAATGCAAACGGGAGGCCTCTGGGACTCAGTCAGAGCGCTTTGGCTGAATGAGGGG
TGGAACCGAGGGAAGAAGGTGCGTCGGAGTGGCAGATGCAGGAAATGAGCTGTCTATTAGCCTTGCCTGCCCCACCCATGAGGTAGGCAGAAATCCTCAC
TGCCAGCCCCTCTTAAACAGGTAGAGAGCTGTGAGCCCCAGCCCCACCTGACTCCAGCACACCTGGCGAGTAGTAGCTGTCAATAAATCTATGGTAAACA
GACAAGAGGAGGTGGAAGGCCATACAGAATGGAGCCGTGAGTATGGCCAGCCTCCAGCTCTCAGCCAGGAGGTCCCCAACCCCAAGGAAGGAAGAAACTG
GAAATTAGGAACTGCTTCCTCATTTAACAAGGTGCTTCTTTTCATGTGATGAGGCCCTGTGAAGAAGGGACAGGATATACAGACGGGGGCAGCTGGAGAC
AGTTATGATGAGTGCCGGCTTTGTGTCTGAGCATTCTGCTCCCATGGACATCCCCAACAACAGCAGGGACCAACCTATGTCACTGTCAAAGGGCAGCTGA
GAAGGGCCTGAGCCCCAGGGACCCCTCACCTGATGGGAATGAGAGTGTGGGGAGCTTGCTTCTTGGCTGAATGGTCTGCTGGGGTCTGGCATAGAAAGCA
GATGGCTT


Protein Sequence     (SEQ ID NO:455):
MAASLGQVLALVLVAALWGGTQPLLKRASAGLQRVHEPTWAQQLLQEMKTLFLNTEYLMPFLLNQCGSLLYYLTLASTDLTLAVPICNSLAIIFTLIVGK
ALGEDIGGKRAVAGMVLTVIGISLCITSSVSKTQGQQSTL*



SNP Information


Context              (SEQ ID NO:4133):
TAAGACCCAGGGGCAACAGTCTACCCTTTGAGTGGGCCGAACCCACTTCCAGCTCTGCTGCCTCCAGGAAGCCCCTGGGCCATGAAGTGCTGGCAGTGAG
Y
GGATGGACCTAGCACTTCCCCTCTCTGGCCTTAGCTTCCTCCTCTCTTATGGGGATAACAGCTACCTCATGGATCACAATAAGAGAACAAGAGTGAAAGA
Celera SNP ID:                hCV927268
SNP Position Transcript:      519
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,2|C,34)  total(T,3|C,73)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:455, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,184) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:455, None



Gene Number:                  79
Celera Gene:                  hCG42018 - 103000085248502
Celera Transcript:            hCT2269161 - 103000085248516
Public Transcript Accession:  NM_001040
Celera Protein:               hCP1891038 - 197000069434302
Public Protein Accession:     NP_001031
Gene Symbol:                  SHBG
Protein Name:                  sex hormone-binding globulin
Celera Genomic Axis:          GA_x5YUV32W2JD(7882431..7899751)
Chromosome:                   17
OMIM NUMBER:                  182205
OMIM Information:


Transcript Sequence  (SEQ ID NO:195):
TATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCGCCAGGGATGGGCCCTGAGACCTGTT
CTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCA
CAAAAACCTCCTCCTCCTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACT
TCGAGACGGCAGGCCTGAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAA
GTCAAGATGGAGGGGGACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCA
TCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCCGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCT
GGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCA
GAATTCAATCTCCGAGACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTG
CTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCT
GGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTG
GCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAAGACTCTTCCACCTCTTTTTGCCTGAATGGCCTTT
GGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGC
TTCCCATTAAAGCTCCACCTAAGAACCCCCTTT


Protein Sequence     (SEQ ID NO:456):
MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGL
RDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWL
DKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPL
VLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDA
SH*



SNP Information


Context              (SEQ ID NO:4134):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:                hCV11955740
SNP Position Transcript:      868
SNP Source:                   dbSNP; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,84|C,2) ; no_pop(T,-|C,-) ; no_pop(T,120|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:456, 289,(S,TCT) (S,TCC)



Context              (SEQ ID NO:4135):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:                hCV27527916
SNP Position Transcript:      943
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:456, 314,(R,AGG) (R,AGA)



Context              (SEQ ID NO:4136):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:                hCV11955741
SNP Position Transcript:      555
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:456, 185,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4137):
TATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCC
R
CCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTC
Celera SNP ID:                hCV11955744
SNP Position Transcript:      75
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,537|A,9) ; no_pop(G,230|A,25) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:456, 25,(R,CGC) (H,CAC)



Context              (SEQ ID NO:4138):
TGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCGCCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCA
Y
GACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAAAACCTCCTCCTCCTTTG
Celera SNP ID:                hCV30533214
SNP Position Transcript:      121
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,160|T,760) ; no_pop(C,-|T,-) ; no_pop(C,78|T,1998)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:456, 40,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4139):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:                hCV11955739
SNP Position Transcript:      1067
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,34)  african american(A,0|G,22)  total(A,2|G,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:456, 356,(D,GAC) (N,AAC)

SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,680|A,240) ; no_pop(G,-|A,-) ; no_pop(G,-|A
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:456, 356,(D,GAC) (N,AAC)



Context              (SEQ ID NO:4140):
TATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGC
R
TCACACCCGCCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCT
Celera SNP ID:                hCV30443303
SNP Position Transcript:      66
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:456, 22,(R,CGT) (H,CAT)



Context              (SEQ ID NO:4141):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:                hCV12123721
SNP Position Transcript:      1233
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,8|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:456, None



Gene Number:                  79
Celera Gene:                  hCG42018 - 103000085248502
Celera Transcript:            hCT2269162 - 103000085248528
Public Transcript Accession:
Celera Protein:               hCP1891039 - 197000069434303
Public Protein Accession:
Gene Symbol:                  SHBG
Protein Name:                  sex hormone-binding globulin
Celera Genomic Axis:          GA_x5YUV32W2JD(7882431..7899751)
Chromosome:                   17
OMIM NUMBER:                  182205
OMIM Information:


Transcript Sequence  (SEQ ID NO:196):
CCGCGGTTCAAAGGCTCCCCCGCAGTGCTTTTTAAATTGACATATGCAGTGATAACCTGCTTTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGAGTG
CCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAAAACCTCCTCCTC
CTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACTTCGAGACGGCAGGCCT
GAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAAGTCAAGATGGAGGGGG
ACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCT
TGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCCGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAG
ATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCAGAATTCAATCTCCGAG
ACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGA
GAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCT
CTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACC
TCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAAGACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAG
GCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCC
ACCTAAGAACCCCCTTT


Protein Sequence     (SEQ ID NO:457):
MTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSG
PLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQ
AAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSS
TSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDASH*



SNP Information


Context              (SEQ ID NO:4142):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:                hCV11955740
SNP Position Transcript:      852
SNP Source:                   dbSNP; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,84|C,2) ; no_pop(T,-|C,-) ; no_pop(T,120|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:457, 231,(S,TCT) (S,TCC)



Context              (SEQ ID NO:4143):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:                hCV27527916
SNP Position Transcript:      927
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:457, 256,(R,AGG) (R,AGA)



Context              (SEQ ID NO:4144):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:                hCV11955741
SNP Position Transcript:      539
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:457, 127,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4145):
GGTTCAAAGGCTCCCCCGCAGTGCTTTTTAAATTGACATATGCAGTGATAACCTGCTTTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGAGTGCCCA
Y
GACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAAAACCTCCTCCTCCTTTG
Celera SNP ID:                hCV30533214
SNP Position Transcript:      105
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,160|T,760) ; no_pop(C,-|T,-) ; no_pop(C,78|T,1998)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:457, None



Context              (SEQ ID NO:4146):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:                hCV11955739
SNP Position Transcript:      1051
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,34)  african american(A,0|G,22)  total(A,2|G,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:457, 298,(D,GAC) (N,AAC)

SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,680|A,240) ; no_pop(G,-|A,-) ; no_pop(G,-|A
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:457, 298,(D,GAC) (N,AAC)



Context              (SEQ ID NO:4147):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:                hCV12123721
SNP Position Transcript:      1217
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,8|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:457, None



Gene Number:                  79
Celera Gene:                  hCG42018 - 103000085248502
Celera Transcript:            hCT33294 - 103000085248503
Public Transcript Accession:  NM_001040
Celera Protein:               hCP51805 - 197000069434301
Public Protein Accession:     NP_001031
Gene Symbol:                  SHBG
Protein Name:                  sex hormone-binding globulin
Celera Genomic Axis:          GA_x5YUV32W2JD(7882431..7899751)
Chromosome:                   17
OMIM NUMBER:                  182205
OMIM Information:


Transcript Sequence  (SEQ ID NO:197):
CCGCGGTTCAAAGGCTCCCCCGCAGTGCTTTTTAAATTGACATATGCAGTGATAACCTGCTTTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGTATG
GAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCGCCAGGGATGGGCCCTGAGACCTGTTCTCC
CCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAA
AACCTCCTCCTCCTTTGAGGTTCGAACCTGGGACCCAGAGGGAGTGATTTTTTATGGGGATACCAACCCTAAGGATGACTGGTTTATGCTGGGACTTCGA
GACGGCAGGCCTGAGATCCAACTGCACAATCACTGGGCCCAGCTTACGGTGGGTGCTGGACCACGGCTGGATGATGGGAGATGGCACCAGGTGGAAGTCA
AGATGGAGGGGGACTCTGTGCTGCTGGAGGTGGATGGGGAGGAGGTGCTGCGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCAT
GAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGCCGCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGAC
AAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGATGTAGAATCAAATCCCGGGATATTTCTCCCTCCAGGGACTCAGGCAGAAT
TCAATCTCCGAGACATTCCCCAGCCTCATGCAGAGCCCTGGGCCTTCTCTTTGGACCTGGGACTCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCT
TGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTC
TTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTC
CCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAAGACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGC
ACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCC
CATTAAAGCTCCACCTAAGAACCCCCTTT


Protein Sequence     (SEQ ID NO:458):
MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGL
RDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWL
DKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPL
VLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDA
SH*



SNP Information


Context              (SEQ ID NO:4148):
TCAAGCAGGCAGCAGGCTCAGGCCACCTCCTTGCTCTTGGGACACCAGAGAACCCATCTTGGCTCAGTCTCCACCTCCAAGATCAAAAGGTGGTGTTGTC
Y
TCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAGGGTGGTCTTGAGCCAAGGGTCGAAGA
Celera SNP ID:                hCV11955740
SNP Position Transcript:      964
SNP Source:                   dbSNP; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,84|C,2) ; no_pop(T,-|C,-) ; no_pop(T,120|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:458, 289,(S,TCT) (S,TCC)



Context              (SEQ ID NO:4149):
TCCAAGATCAAAAGGTGGTGTTGTCTTCTGGGTCGGGGCCAGGGCTGGATCTGCCCCTGGTCTTGGGACTCCCTCTTCAGCTGAAGCTGAGTATGTCCAG
R
GTGGTCTTGAGCCAAGGGTCGAAGATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCT
Celera SNP ID:                hCV27527916
SNP Position Transcript:      1039
SNP Source:                   dbSNP; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:458, 314,(R,AGG) (R,AGA)



Context              (SEQ ID NO:4150):
CGCCTGAGACAGGTCTCTGGGCCCCTGACCAGCAAACGCCATCCCATCATGAGGATTGCGCTTGGGGGGCTGCTCTTCCCCGCTTCCAACCTTCGGTTGC
Y
GCTGGTTCCTGCCCTGGATGGCTGCCTGCGCCGGGATTCCTGGCTGGACAAACAGGCCGAGATCTCAGCATCTGCCCCCACTAGCCTCAGAAGCTGTGAT
Celera SNP ID:                hCV11955741
SNP Position Transcript:      651
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:458, 185,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4151):
GGCTCACTCACCCGCCCAGACCCTGGTATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCC
R
CCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTC
Celera SNP ID:                hCV11955744
SNP Position Transcript:      171
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,537|A,9) ; no_pop(G,230|A,25) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:458, 25,(R,CGC) (H,CAC)



Context              (SEQ ID NO:4152):
TGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGCGTCACACCCGCCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCA
Y
GACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCTATCGCTGTCATGACCTTTGACCTCACCAAGATCACAAAAACCTCCTCCTCCTTTG
Celera SNP ID:                hCV30533214
SNP Position Transcript:      217
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,160|T,760) ; no_pop(C,-|T,-) ; no_pop(C,78|T,1998)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:458, 40,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4153):
GATGAAGGCCCTTGCCCTGCCTCCCTTAGGCCTGGCTCCCCTCCTTAACCTCTGGGCCAAGCCTCAAGGGCGTCTCTTCCTGGGGGCTTTACCAGGAGAA
R
ACTCTTCCACCTCTTTTTGCCTGAATGGCCTTTGGGCACAAGGTCAGAGGCTGGATGTGGACCAGGCCCTGAACAGAAGCCATGAGATCTGGACTCACAG
Celera SNP ID:                hCV11955739
SNP Position Transcript:      1163
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,2|G,34)  african american(A,0|G,22)  total(A,2|G,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:458, 356,(D,GAC) (N,AAC)

SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,680|A,240) ; no_pop(G,-|A,-) ; no_pop(G,-|A
,-)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:458, 356,(D,GAC) (N,AAC)



Context              (SEQ ID NO:4154):
TTAGCCTCAGGCTCACTCACCCGCCCAGACCCTGGTATGGAGAGCAGAGGCCCACTGGCTACCTCGCGCCTGCTGCTGTTGCTGCTGTTGCTACTACTGC
R
TCACACCCGCCAGGGATGGGCCCTGAGACCTGTTCTCCCCACCCAGAGTGCCCACGACCCTCCGGCTGTCCACCTCAGCAATGGCCCAGGACAAGAGCCT
Celera SNP ID:                hCV30443303
SNP Position Transcript:      162
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:458, 22,(R,CGT) (H,CAT)



Context              (SEQ ID NO:4155):
GCCCTGAACAGAAGCCATGAGATCTGGACTCACAGCTGCCCCCAGAGCCCAGGCAATGGCACTGACGCTTCCCATTAAAGCTCCACCTAAGAACCCCCTT
T

Celera SNP ID:                hCV12123721
SNP Position Transcript:      1329
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,8|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:458, None



Gene Number:                  80
Celera Gene:                  hCG42025 - 103000085236727
Celera Transcript:            hCT33301 - 103000085236728
Public Transcript Accession:  NM_133491
Celera Protein:               hCP51825 - 197000069434431
Public Protein Accession:     NP_597998
Gene Symbol:                  SAT2
Protein Name:                  spermidine/spermine N1-acetyltransferase 2
Celera Genomic Axis:          GA_x5YUV32W2JD(7887953..7901575)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:198):
TGCCCGGACAGAGGATCGCCTCGCTGGCCTACTCTCTCCTCCCGTACGGCGCCGGAATCCCAGCTCCACTTACCAGGCCGCGGCTACCCCGCCGTCCCCC
CCGACTCCCGCCACCCCGCTCTCTCAGGCTCTTCAGGATCCAAGTCCGTAGGCCCTTTAAGGGGTCTAGTTGCCGTTTGCGAGGCCCTGGGACTTTGGTC
CCAGACAGCGGGGATCCGGATGGCTTCCGTGCGGATCCGAGAGGCCAAGGAGGGAGACTGTGGAGATATCCTGAGGCTGATTCGGGAGCTAGCCGAATTC
GAAAAACTCTCGGATCAGGTGAAGATCAGTGAAGAAGCCCTGAGAGCAGATGGCTTTGGAGACAATCCTTTCTATCACTGTTTGGTAGCAGAGATTCTTC
CAGCGCCCGGGAAGCTACTGGGGCCCTGCGTGGTGGGCTATGGGATATACTATTTCATCTACAGTACATGGAAGGGACGCACCATTTATCTGGAGGATAT
CTATGTGATGCCGGAATATCGGGGTCAAGGGATTGGTTCCAAAATAATCAAAAAGGTGGCTGAGGTGGCCTTGGATAAGGGCTGCTCCCAATTCCGCCTG
GCCGTCCTGGACTGGAACCAGAGGGCCATGGACTTGTACAAGGCCCTAGGAGCCCAAGATCTGACGGAAGCTGAGGGCTGGCACTTCTTCTGCTTTCAAG
GAGAGGCAACGAGAAAGTTGGCAGGAAAGTGACGCCATCCCTAGGAGGATCTCTGTCTTGAGTTTCTCCTTCCCCATCAGCTGAAGCACTCTTCAGAGAC
TACGTCCACAGACACTGATGCTGAGGCCTCCCTGGAGGAAGGAGGGTTAGGGGTGCCTATCCTCAAGTATTGGAAGAGCAGAATTGAGGGAGAGACCTTT
CTTCCTTGTTGAGGGTGAAAAATAAATAAGAATTACATGTCCTGAT


Protein Sequence     (SEQ ID NO:459):
MASVRIREAKEGDCGDILRLIRELAEFEKLSDQVKISEEALRADGFGDNPFYHCLVAEILPAPGKLLGPCVVGYGIYYFIYSTWKGRTIYLEDIYVMPEY
RGQGIGSKIIKKVAEVALDKGCSQFRLAVLDWNQRAMDLYKALGAQDLTEAEGWHFFCFQGEATRKLAGK*



SNP Information


Context              (SEQ ID NO:4156):
TGATTCGGGAGCTAGCCGAATTCGAAAAACTCTCGGATCAGGTGAAGATCAGTGAAGAAGCCCTGAGAGCAGATGGCTTTGGAGACAATCCTTTCTATCA
Y
TGTTTGGTAGCAGAGATTCTTCCAGCGCCCGGGAAGCTACTGGGGCCCTGCGTGGTGGGCTATGGGATATACTATTTCATCTACAGTACATGGAAGGGAC
Celera SNP ID:                hCV25968964
SNP Position Transcript:      378
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,38)  african american(T,2|C,34)  total(T,2|C,72)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:459, 53,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4157):
GGATATCTATGTGATGCCGGAATATCGGGGTCAAGGGATTGGTTCCAAAATAATCAAAAAGGTGGCTGAGGTGGCCTTGGATAAGGGCTGCTCCCAATTC
Y
GCCTGGCCGTCCTGGACTGGAACCAGAGGGCCATGGACTTGTACAAGGCCCTAGGAGCCCAAGATCTGACGGAAGCTGAGGGCTGGCACTTCTTCTGCTT
Celera SNP ID:                hCV3289985
SNP Position Transcript:      595
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,2948|T,188) ; no_pop(C,16|T,2) ; no_pop(C,-|T,-) ; no_pop(C,-
|T,-) ; no_pop(C,216|T,24)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:459, 126,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4158):
AGCTACTGGGGCCCTGCGTGGTGGGCTATGGGATATACTATTTCATCTACAGTACATGGAAGGGACGCACCATTTATCTGGAGGATATCTATGTGATGCC
R
GAATATCGGGGTCAAGGGATTGGTTCCAAAATAATCAAAAAGGTGGCTGAGGTGGCCTTGGATAAGGGCTGCTCCCAATTCCGCCTGGCCGTCCTGGACT
Celera SNP ID:                hCV8727475
SNP Position Transcript:      513
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,12|A,6)  african american(G,32|A,6)  total(G,44|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:459, 98,(P,CCG) (P,CCA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,132|A,52) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:459, 98,(P,CCG) (P,CCA)



Gene Number:                  81
Celera Gene:                  hCG43757 - 146000220036902
Celera Transcript:            hCT35038 - 146000220036903
Public Transcript Accession:  NM_000224
Celera Protein:               hCP52156 - 197000069412977
Public Protein Accession:     NP_000215
Gene Symbol:                  KRT18
Protein Name:                  keratin 18
Celera Genomic Axis:          GA_x5YUV32W46Y(607465..623495)
Chromosome:                   12
OMIM NUMBER:                  148070
OMIM Information:             Cirrhosis, cryptogenic (3); {Cirrhosis, noncryptogenic,/susceptibility
 to}, 215600 (3)



Transcript Sequence  (SEQ ID NO:199):
GGCCAACAACACCTGCTGTCCGTGTCCATGCCCGGTTGGCCACCCCGTTTCTGGGGGGTGAGCGGGGCTTGGCAGGGCTGCGCGGAGGGCGCGGGGGTGG
GGCCCGGGGCGGAGCGGCCCGGGGCGGAGGGCGCGGGCTCCGAGCCGTCCACCTGTGGCTCCGGCTTCCGAAGCGGCTCCGGGGCGGGGGCGGGGCCTCA
CTCTGCGATATAACTCGGGTCGCGCGGCTCGCGCAGGCCGCCACCGTCGTCCGCAAAGCCTGAGTCCTGTCCTTTCTCTCTCCCCGGACAGCATGAGCTT
CACCACTCGCTCCACCTTCTCCACCAACTACCGGTCCCTGGGCTCTGTCCAGGCGCCCAGCTACGGCGCCCGGCCGGTCAGCAGCGCGGCCAGCGTCTAT
GCAGGCGCTGGGGGCTCTGGTTCCCGGATCTCCGTGTCCCGCTCCACCAGCTTCAGGGGCGGCATGGGGTCCGGGGGCCTGGCCACCGGGATAGCCGGGG
GTCTGGCAGGAATGGGAGGCATCCAGAACGAGAAGGAGACCATGCAAAGCCTGAACGACCGCCTGGCCTCTTACCTGGACAGAGTGAGGAGCCTGGAGAC
CGAGAACCGGAGGCTGGAGAGCAAAATCCGGGAGCACTTGGAGAAGAAGGGACCCCAGGTCAGAGACTGGAGCCATTACTTCAAGATCATCGAGGACCTG
AGGGCTCAGATCTTCGCAAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCCGTCTTGCTGCTGATGACTTTAGAGTCAAGTATGAGA
CAGAGCTGGCCATGCGCCAGTCTGTGGAGAACGACATCCATGGGCTCCGCAAGGTCATTGATGACACCAATATCACACGACTGCAGCTGGAGACAGAGAT
CGAGGCTCTCAAGGAGGAGCTGCTCTTCATGAAGAAGAACCACGAAGAGGAAGTAAAAGGCCTACAAGCCCAGATTGCCAGCTCTGGGTTGACCGTGGAG
GTAGATGCCCCCAAATCTCAGGACCTCGCCAAGATCATGGCAGACATCCGGGCCCAATATGACGAGCTGGCTCGGAAGAACCGAGAGGAGCTAGACAAGT
ACTGGTCTCAGCAGATTGAGGAGAGCACCACAGTGGTCACCACACAGTCTGCTGAGGTTGGAGCTGCTGAGACGACGCTCACAGAGCTGAGACGTACAGT
CCAGTCCTTGGAGATCGACCTGGACTCCATGAGAAATCTGAAGGCCAGCTTGGAGAACAGCCTGAGGGAGGTGGAGGCCCGCTACGCCCTACAGATGGAG
CAGCTCAACGGGATCCTGCTGCACCTTGAGTCAGAGCTGGCACAGACCCGGGCAGAGGGACAGCGCCAGGCCCAGGAGTATGAGGCCCTGCTGAACATCA
AGGTCAAGCTGGAGGCTGAGATCGCCACCTACCGCCGCCTGCTGGAAGATGGCGAGGACTTTAATCTTGGTGATGCCTTGGACAGCAGCAACTCCATGCA
AACCATCCAAAAGACCACCACCCGCCGGATAGTGGATGGCAAAGTGGTGTCTGAGACCAATGACACCAAAGTTCTGAGGCATTAAGCCAGCAGAAGCAGG
GTACCCTTTGGGGAGCAGGAGGCCAATAAAAAGTTCAGAGTTCATTGGATGTC


Protein Sequence     (SEQ ID NO:460):
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRS
LETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLE
TEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAPKSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELR
RTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN
SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*



SNP Information


Context              (SEQ ID NO:4159):
GGCTCTGTCCAGGCGCCCAGCTACGGCGCCCGGCCGGTCAGCAGCGCGGCCAGCGTCTATGCAGGCGCTGGGGGCTCTGGTTCCCGGATCTCCGTGTCCC
K
CTCCACCAGCTTCAGGGGCGGCATGGGGTCCGGGGGCCTGGCCACCGGGATAGCCGGGGGTCTGGCAGGAATGGGAGGCATCCAGAACGAGAAGGAGACC
Celera SNP ID:                hDV69171982
SNP Position Transcript:      441
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 50,(R,CGC) (L,CTC)



Context              (SEQ ID NO:4160):
CCAGGCCCAGGAGTATGAGGCCCTGCTGAACATCAAGGTCAAGCTGGAGGCTGAGATCGCCACCTACCGCCGCCTGCTGGAAGATGGCGAGGACTTTAAT
Y
TTGGTGATGCCTTGGACAGCAGCAACTCCATGCAAACCATCCAAAAGACCACCACCCGCCGGATAGTGGATGGCAAAGTGGTGTCTGAGACCAATGACAC
Celera SNP ID:                hCV9606011
SNP Position Transcript:      1466
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 392,(L,CTT) (F,TTT)



Context              (SEQ ID NO:4161):
TGGAGAACAGCCTGAGGGAGGTGGAGGCCCGCTACGCCCTACAGATGGAGCAGCTCAACGGGATCCTGCTGCACCTTGAGTCAGAGCTGGCACAGACCCG
R
GCAGAGGGACAGCGCCAGGCCCAGGAGTATGAGGCCCTGCTGAACATCAAGGTCAAGCTGGAGGCTGAGATCGCCACCTACCGCCGCCTGCTGGAAGATG
Celera SNP ID:                hCV26384359
SNP Position Transcript:      1351
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:460, 353,(R,CGG) (R,CGA)



Context              (SEQ ID NO:4162):
ATGAGACAGAGCTGGCCATGCGCCAGTCTGTGGAGAACGACATCCATGGGCTCCGCAAGGTCATTGATGACACCAATATCACACGACTGCAGCTGGAGAC
M
GAGATCGAGGCTCTCAAGGAGGAGCTGCTCTTCATGAAGAAGAACCACGAAGAGGAAGTAAAAGGCCTACAAGCCCAGATTGCCAGCTCTGGGTTGACCG
Celera SNP ID:                hDV69171979
SNP Position Transcript:      895
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:460, 201,(T,ACA) (T,ACC)



Context              (SEQ ID NO:4163):
GATCGCCACCTACCGCCGCCTGCTGGAAGATGGCGAGGACTTTAATCTTGGTGATGCCTTGGACAGCAGCAACTCCATGCAAACCATCCAAAAGACCACC
M
CCCGCCGGATAGTGGATGGCAAAGTGGTGTCTGAGACCAATGACACCAAAGTTCTGAGGCATTAAGCCAGCAGAAGCAGGGTACCCTTTGGGGAGCAGGA
Celera SNP ID:                hCV26384360
SNP Position Transcript:      1520
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 410,(T,ACC) (P,CCC)



Context              (SEQ ID NO:4164):
GTACAGTCCAGTCCTTGGAGATCGACCTGGACTCCATGAGAAATCTGAAGGCCAGCTTGGAGAACAGCCTGAGGGAGGTGGAGGCCCGCTACGCCCTACA
S
ATGGAGCAGCTCAACGGGATCCTGCTGCACCTTGAGTCAGAGCTGGCACAGACCCGGGCAGAGGGACAGCGCCAGGCCCAGGAGTATGAGGCCCTGCTGA
Celera SNP ID:                hDV69169557
SNP Position Transcript:      1294
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 334,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:4165):
TTGCTGCTGATGACTTTAGAGTCAAGTATGAGACAGAGCTGGCCATGCGCCAGTCTGTGGAGAACGACATCCATGGGCTCCGCAAGGTCATTGATGACAC
Y
AATATCACACGACTGCAGCTGGAGACAGAGATCGAGGCTCTCAAGGAGGAGCTGCTCTTCATGAAGAAGAACCACGAAGAGGAAGTAAAAGGCCTACAAG
Celera SNP ID:                hDV69171981
SNP Position Transcript:      868
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:460, 192,(T,ACC) (T,ACT)



Context              (SEQ ID NO:4166):
GGGCGGGGGCGGGGCCTCACTCTGCGATATAACTCGGGTCGCGCGGCTCGCGCAGGCCGCCACCGTCGTCCGCAAAGCCTGAGTCCTGTCCTTTCTCTCT
Y
CCCGGACAGCATGAGCTTCACCACTCGCTCCACCTTCTCCACCAACTACCGGTCCCTGGGCTCTGTCCAGGCGCCCAGCTACGGCGCCCGGCCGGTCAGC
Celera SNP ID:                hCV25630994
SNP Position Transcript:      282
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:460, None



Context              (SEQ ID NO:4167):
CTATGCAGGCGCTGGGGGCTCTGGTTCCCGGATCTCCGTGTCCCGCTCCACCAGCTTCAGGGGCGGCATGGGGTCCGGGGGCCTGGCCACCGGGATAGCC
R
GGGGTCTGGCAGGAATGGGAGGCATCCAGAACGAGAAGGAGACCATGCAAAGCCTGAACGACCGCCTGGCCTCTTACCTGGACAGAGTGAGGAGCCTGGA
Celera SNP ID:                hDV69171980
SNP Position Transcript:      497
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 69,(G,GGG) (R,AGG)



Context              (SEQ ID NO:4168):
CGGGATCCTGCTGCACCTTGAGTCAGAGCTGGCACAGACCCGGGCAGAGGGACAGCGCCAGGCCCAGGAGTATGAGGCCCTGCTGAACATCAAGGTCAAG
S
TGGAGGCTGAGATCGCCACCTACCGCCGCCTGCTGGAAGATGGCGAGGACTTTAATCTTGGTGATGCCTTGGACAGCAGCAACTCCATGCAAACCATCCA
Celera SNP ID:                hCV12053519
SNP Position Transcript:      1409
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 373,(L,CTG) (V,GTG)



Context              (SEQ ID NO:4169):
TGCTGCTGATGACTTTAGAGTCAAGTATGAGACAGAGCTGGCCATGCGCCAGTCTGTGGAGAACGACATCCATGGGCTCCGCAAGGTCATTGATGACACC
R
ATATCACACGACTGCAGCTGGAGACAGAGATCGAGGCTCTCAAGGAGGAGCTGCTCTTCATGAAGAAGAACCACGAAGAGGAAGTAAAAGGCCTACAAGC
Celera SNP ID:                hCV31108330
SNP Position Transcript:      869
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:460, 193,(N,AAT) (D,GAT)



Gene Number:                  82
Celera Gene:                  hCG1979943 - 118000094838522
Celera Transcript:            hCT2252020 - 118000094838523
Public Transcript Accession:
Celera Protein:               hCP1884495 - 197000069427759
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9216296..9228386)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:200):
ACCATCTTCAGTGTAACTCAGGGAAATGACCTCACTCTGTTGCTCCTCGTCCTTGGAAACGGAGCTGGTTGTATCTACCGTGCAGGGATG

Protein Sequence     (SEQ ID NO:461):
TIFSVTQGNDLTLLLLVLGNGAGCIYRAGM


SNP Information


Gene Number:                  83
Celera Gene:                  hCG1979952 - 118000094838385
Celera Transcript:            hCT2252029 - 118000094838386
Public Transcript Accession:
Celera Protein:               hCP1884478 - 197000069427742
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9645311..9657563)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:201):
ATGCAGAAGTCCTCTTCTACTCGGGCTGGGGATATGCGTGAGAAAGACACGCGTGGATGCCGTATGAGCTCTCGTTCTGAATGCGGAAATCTGACCTCCC
ACCGGATACTCAGTTCAGGGGGCTCCTGGACCCTCCAGCTGCTCCTCTACTCATCGCTCCCTCACTCAGAAAACCAGCAGAGAAGTGAACTTCCTCAAAT
GACTGACGGTAAATATCCAGCATGGAGCTGGATTACAAAACTGTATAAACTG


Protein Sequence     (SEQ ID NO:462):
MQKSSSTRAGDMREKDTRGCRMSSRSECGNLTSHRILSSGGSWTLQLLLYSSLPHSENQQRSELPQMTDGKYPAWSWITKLYKL


SNP Information


Context              (SEQ ID NO:4170):
ATGCAGAAGTCCTCTTCTACTCGGGCTGGGGATATGCGTGAGAAAGACACGCGTGGATGCC
R
TATGAGCTCTCGTTCTGAATGCGGAAATCTGACCTCCCACCGGATACTCAGTTCAGGGGGCTCCTGGACCCTCCAGCTGCTCCTCTACTCATCGCTCCCT
Celera SNP ID:                hDV70661776
SNP Position Transcript:      62
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:462, 21,(R,CGT) (H,CAT)



Context              (SEQ ID NO:4171):
CCTCTACTCATCGCTCCCTCACTCAGAAAACCAGCAGAGAAGTGAACTTCCTCAAATGACTGACGGTAAATATCCAGCATGGAGCTGGATTACAAAACTG
Y
ATAAACTG
Celera SNP ID:                hDV70662801
SNP Position Transcript:      244
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:462, 82,(Y,TAT) (H,CAT)



Context              (SEQ ID NO:4172):
ATGCAGAAGTCCTCTTCTACTCGGGCTGGGGATATGC
R
TGAGAAAGACACGCGTGGATGCCGTATGAGCTCTCGTTCTGAATGCGGAAATCTGACCTCCCACCGGATACTCAGTTCAGGGGGCTCCTGGACCCTCCAG
Celera SNP ID:                hCV11438723
SNP Position Transcript:      38
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,81|A,11) ; no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:462, 13,(R,CGT) (H,CAT)



Gene Number:                  84
Celera Gene:                  hCG1980034 - 118000094839030
Celera Transcript:            hCT2252132 - 118000094839031
Public Transcript Accession:
Celera Protein:               hCP1884464 - 197000069427728
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9328634..9341052)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:202):
TTTACATTAGTTTTGATTACATTAGTTTAGAATGAAATTTTAAATACACTAGTATATGTAATTAAAATTGTATATACGTTTTAGTCAACCATCAGCTGAC
TTATTCATGTTCTGTGGACTCTATGGTGGGTGGGGTCCAAGCCTCCCTGAAGCAGATCTCTATCCTGTCACCCTGCTGGAAATGAAACACTTAGGGGTTA
GAAGGGGATCAAGGAAAGTCCGAGAGTTGGTTGTGATTATCTTCAGTCAGAAAGTGCCTACTTTTCCAAGCATCCAGACTGCAACCTGTCTTTCCTACTC
AAAATGGTTTTTATGGATTCTATTCTTATTTGGCAATTGCCTGGACTACAGTCACCAACACAAGTTTATACGCAAGAAGTGCACACAGCCCTCCCTCCCA
GCTCATCCGGTAACAATT


Protein Sequence     (SEQ ID NO:463):
MFCGLYGGWGPSLPEADLYPVTLLEMKHLGVRRGSRKVRELVVIIFSQKVPTFPSIQTATCLSYSKWFLWILFLFGNCLDYSHQHKFIRKKCTQPSLPAH
PVTI



SNP Information


Context              (SEQ ID NO:4173):
TAGTTTAGAATGAAATTTTAAATACACTAGTATATGTAATTAAAATTGTATATACGTTTTAGTCAACCATCAGCTGACTTATTCATGTTCTGTGGACTCT
R
TGGTGGGTGGGGTCCAAGCCTCCCTGAAGCAGATCTCTATCCTGTCACCCTGCTGGAAATGAAACACTTAGGGGTTAGAAGGGGATCAAGGAAAGTCCGA
Celera SNP ID:                hCV16288897
SNP Position Transcript:      123
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:463, 6,(Y,TAT) (C,TGT)



Context              (SEQ ID NO:4174):
GGGTCCAAGCCTCCCTGAAGCAGATCTCTATCCTGTCACCCTGCTGGAAATGAAACACTTAGGGGTTAGAAGGGGATCAAGGAAAGTCCGAGAGTTGGTT
S
TGATTATCTTCAGTCAGAAAGTGCCTACTTTTCCAAGCATCCAGACTGCAACCTGTCTTTCCTACTCAAAATGGTTTTTATGGATTCTATTCTTATTTGG
Celera SNP ID:                hCV8901978
SNP Position Transcript:      233
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,81|C,11) ; no_pop(G,-|C,-) ; no_pop(G,103|C,17)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:463, 43,(V,GTG) (L,CTG)



Context              (SEQ ID NO:4175):
CTTAGGGGTTAGAAGGGGATCAAGGAAAGTCCGAGAGTTGGTTGTGATTATCTTCAGTCAGAAAGTGCCTACTTTTCCAAGCATCCAGACTGCAACCTGT
Y
TTTCCTACTCAAAATGGTTTTTATGGATTCTATTCTTATTTGGCAATTGCCTGGACTACAGTCACCAACACAAGTTTATACGCAAGAAGTGCACACAGCC
Celera SNP ID:                hCV8901979
SNP Position Transcript:      290
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,46|T,46) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:463, 62,(L,CTT) (F,TTT)



Gene Number:                  85
Celera Gene:                  hCG1980035 - 118000094839034
Celera Transcript:            hCT2252133 - 118000094839035
Public Transcript Accession:
Celera Protein:               hCP1884465 - 197000069427729
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9305533..9318289)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:203):
ATGACCAGTTATACTTCATCAACTCTAACAAATGAAGGAGCAGAGTTGGTTTTCCGGAGTTTGCTTCAGTTCTTTGATATGAGGCAAGAGGTACTCGATG
AACCACATGCTAAAATAAAAAAAAATGAACCACATGCTAAAATCAAATGGCTTCTGCACCTGTGTGCGTTCCTGGACTCTGGGGTCACAGGATGGCTGAT
GAGATGCCTTCGAGAAATTAATACTCTAATGAGGGAAACATCCTTTCATGTTGGTGCAAGAGACGTTCTAGGCCTGGTTCTACCTCTAGTTGGAACGGTG
GTCATGGACAGGTCACCCCCGCTGTCCAGAACACATGTCAAGAAGTGGGAGCTGGACGACAACATTCTTGTTCAGAGCGTTCTTCCTCCACATTTTATCC
AAAGCAGCTCCACTTTTACCTGTGTTATCTAC


Protein Sequence     (SEQ ID NO:464):
MTSYTSSTLTNEGAELVFRSLLQFFDMRQEVLDEPHAKIKKNEPHAKIKWLLHLCAFLDSGVTGWLMRCLREINTLMRETSFHVGARDVLGLVLPLVGTV
VMDRSPPLSRTHVKKWELDDNILVQSVLPPHFIQSSSTFTCVIY



SNP Information


Context              (SEQ ID NO:4176):
ACCACATGCTAAAATAAAAAAAAATGAACCACATGCTAAAATCAAATGGCTTCTGCACCTGTGTGCGTTCCTGGACTCTGGGGTCACAGGATGGCTGATG
W
GATGCCTTCGAGAAATTAATACTCTAATGAGGGAAACATCCTTTCATGTTGGTGCAAGAGACGTTCTAGGCCTGGTTCTACCTCTAGTTGGAACGGTGGT
Celera SNP ID:                hCV1445028
SNP Position Transcript:      202
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,12|T,1)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:464, 68,(R,AGA) (*,TGA)



Context              (SEQ ID NO:4177):
ATGACCAGTTATACTTCATCAACTCTAACAAATGAAGGAGCAGAGTTGGTTTTC
Y
GGAGTTTGCTTCAGTTCTTTGATATGAGGCAAGAGGTACTCGATGAACCACATGCTAAAATAAAAAAAAATGAACCACATGCTAAAATCAAATGGCTTCT
Celera SNP ID:                hCV1445025
SNP Position Transcript:      55
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,8|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:464, 19,(R,CGG) (W,TGG)



Gene Number:                  86
Celera Gene:                  hCG1984846 - 120000094638946
Celera Transcript:            hCT2259414 - 120000094638947
Public Transcript Accession:
Celera Protein:               hCP1865464 - 197000069388598
Public Protein Accession:
Gene Symbol:                  HD
Protein Name:                  huntingtin (Huntington disease)
Celera Genomic Axis:          GA_x5YUV32W0YB(5881949..6063676)
Chromosome:                   4
OMIM NUMBER:                  143100
OMIM Information:             Huntington disease (3)


Transcript Sequence  (SEQ ID NO:204):
TTGCTGTGTGAGGCAGAACCTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGG
CGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGC
CGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGAGTCGGCCCGAGGCCTCCGGGGACTGCCGTGC
CGGGCGGGAGACCGCCATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTG
CCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCA
AGAAAGACCGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAGTCTGTCAGAAATTCTCCAGAATTTCAGAAACTTCTGGGCATCGCTAT
GGAACTTTTTCTGCTGTGCAGTGATGACGCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTGATGGATTCTAAT
CTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGTGCCCCTCGGAGTTTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACC
TGGTTCGGCCTCAGAAATGCAGGCCTTACCTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAGAGACCCGAAGAATCAGTCCAGGAGACCTTGGC
TGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCATAGCGAACCTGAAGTCAAGC
TCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCT
TAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGGT
CAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGACGTTA
CATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGA
CCGCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAAGTTATTAGC
AAGCCCTGTCCTTTCAAGAAAACAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGATCGGATGTCAGCAGCTCT
GCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTGGCTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAAC
AGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAG
CCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCATGGACCTGAATGATGGGACCCAGGCCTCGTCGCCCATCAGCGACAGCTCCCAGACC
ACCACCGAAGGGCCTGATTCAGCTGTTACCCCTTCAGACAGTTCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAGATTGGACAGC
CCCAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGGAACTCTTCCATGGCCCTTCAACAGGCACATTTATTGAA
AAACATGAGTCACTGCAGGCAGCCTTCTGACAGCAGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGATCAAGAAAACAAGCCTTGC
CGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAGGGGGAA
AAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCTTTCTT
CAGCAAACTCTATAAAGTTCCTCTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATCGATCATGGAGACCCACAGGTT
CGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCCATCCTCAGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATTAGAACCCTCA
CAGGAAATACATTTTCTTTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAGTCTTCTGTTACTTGCAAGTTAGCTTGTACAGCTGTGAG
GAACTGTGTCATGAGTCTCTGCAGCAGCAGCTACAGTGAGTTAGGACTGCAGCTGATCATCGATGTGCTGACTCTGAGGAACAGTTCCTATTGGCTGGTG
AGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCTCATCATTATA
CAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGTTGCCGCAGCATCACT
AATTAGGCTTGTCCCAAAGCTGTTTTATAAATGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGCAGTGTTTACCTGAAACTT
CTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGCACAATAACCAGAATATATAGAGGCTATAACCTACTACCAAGCATAACAGACGTCACTA
TGGAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCTCATGAACTAATCACATCAACCACCAGAGCACTCACATTTGGATGCTGTGAAGCTTTGTGTCT
TCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTT
GGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTG
CAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGA
CCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCA
ATAAAGGCAGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGT
TGAGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGTCCTGTTACAACAAGTAAATCCTCATCACTGGGGAGTTTCTA
TCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGA
GGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGA
AATCCTGCTTTAGTCGAGAACCAATGATGGCAACTGTTTGTGTTCAACAATTGTTGAAGACTCTCTTTGGCACAAACTTGGCCTCCCAGTTTGATGGCTT
ATCTTCCAACCCCAGCAAGTCACAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACC
CACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGT
CTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATTCATAATCACATTCGTTTGTTTGAACCTCTTGTTATAAA
AGCTTTAAAACAGTACACGACTACAACATGTGTGCAGTTACAGAAGCAGGTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTACGGGTTAATTACTGTCTT
CTGGATTCAGATCAGGTGTTTATTGGCTTTGTATTGAAACAGTTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATCATTCCAAACATCT
TTTTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGAATTCCTAAAATCATTCAGCTCTGTGATGGCATCATGGCCAGTGG
AAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAACAAATAAAGCTGATGCAGGAAAAGAGCTT
GAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTCATTCTTGTCCTGCAGCAGTGCCACAAGG
AGAATGAAGACAAGTGGAAGCGACTGTCTCGACAGATAGCTGACATCATCCTCCCAATGTTAGCCAAACAGCAGATGCACATTGACTCTCATGAAGCCCT
TGGAGTGTTAAATACATTATTTGAGATTTTGGCCCCTTCCTCCCTCCGTCCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAACACAATGGCG
TCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGAGGGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGG
AGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTGAAGGGAAACA
AATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAAGGTGGAAATG
AGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACACTGCTAATGTGTCTGATCCACATCTTCAAGTCTGGAATGTTCCGGAGAATCACAGCAG
CTGCCACTAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGC
CCTGGTGCTGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACACAGTCTGTCC
AGCACAAAGTTACTTAGTCCCCAGATGTCTGGAGAAGAGGAGGATTCTGACTTGGCAGCCAAACTTGGAATGTGCAATAGAGAAATAGTACGAAGAGGGG
CTCTCATTCTCTTCTGTGATTATGTCTGTCAGAACCTCCATGACTCCGAGCACTTAACGTGGCTCATTGTAAATCACATTCAAGATCTGATCAGCCTTTC
CCACGAGCCTCCAGTACAGGACTTCATCAGTGCCGTTCATCGGAACTCTGCTGCCAGCGGCCTGTTCATCCAGGCAATTCAGTCTCGTTGTGAAAACCTT
TCAACTCCAACCATGCTGAAGAAAACTCTTCAGTGCTTGGAGGGGATCCATCTCAGCCAGTCGGGAGCTGTGCTCACGCTGTATGTGGACAGGCTTCTGT
GCACCCCTTTCCGTGTGCTGGCTCGCATGGTCGACATCCTTGCTTGTCGCCGGGTAGAAATGCTTCTGGCTGCAAATTTACAGAGCAGCATGGCCCAGTT
GCCAATGGAAGAACTCAACAGAATCCAGGAATACCTTCAGAGCAGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTGCTGGACAGGTTTCGTCTC
TCCACCATGCAAGACTCACTTAGTCCCTCTCCTCCAGTCTCTTCCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAG
ACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCAGATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATAT
GAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGTGGCCAGAAGAGTGCCCTT
TTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGAGC
CGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGGT
GGTCTCCAAACTGCCCAGTCATTTGCACCTTCCTCCTGAGAAAGAGAAGGACATTGTGAAATTCGTGGTGGCAACCCTTGAGGCCCTGTCCTGGCATTTG
ATCCATGAGCAGATCCCGCTGAGTCTGGATCTCCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCA
CAGAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAG
AAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAAGTATATCACTGCAGCCTGTGAGATGGTGGCA
GAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCTCAGGAACATCATCATCA
GCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAGGGGATTTTGGCACAGC
ATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTT
GAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGA
TCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCC
CCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTTTGGGAGGAAGCTGAGCATTATCAGAGGGATTGTGGAGCAAGAGATTCAAGCAATGGTTTCAAAG
AGAGAGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGC
TGCTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCT
GAGGGAGGAGGAATGGGACGAGGAAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCT
GGAGTTGACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCA
GTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCA
CCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGC
CGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACA
CTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCACTGCGTGAACATTCACAGCCAGCAGCACGTACTGGT
CATGTGTGCCACTGCGTTTTACCTCATTGAGAACTATCCTCTGGACGTAGGGCCGGAATTTTCAGCATCAATAATACAGATGTGTGGGGTGATGCTGTCT
GGAAGTGAGGAGTCCACCCCCTCCATCATTTACCACTGTGCCCTCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTGGATGCAGAAT
CGCTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGA
GAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGG
ATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCA
TCGGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTCATGGCCACCGTGGTGTATAAGGTGTTTCAGACTCTGCACAGCACCGGGCAGTCGTCCAT
GGTCCGGGACTGGGTCATGCTGTCCCTCTCCAACTTCACGCAGAGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCCTGCTTCTTTGTCAGCGCGTCC
ACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGCAGGATGGGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTCGCCACAGACT
TCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATATCACCGGCTGCTGAC
TTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTGCGCCC
TTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGAAGTG
CTCTTTGTGGCAGTGGCCAGGCAGGGAGTGTCTGCAGTCCTGGTGGGGCTGAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTG
GGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCT
GTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGT
CTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAA
TTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAAGTATGTGAATCGCAAGGCCTGTGCTGCATGCGACAGCGTCCG
GGGTGGTGGACAGGGCCCCCGGCCACGCTCCCTCTCCTGTAGCCACTGGCATAGCCCTCCTGAGCACCCGCTGACATTTCCGTTGTACATGTTCCTGTTT
ATGCATTCACAAGGTGACTGGGATGTAGAGAGGCGTTAGTGGGCAGGTGGCCACAGCAGGACTGAGGACAGGCCCCCATTATCCTAGGGGTGCGCTCACC
TGCAGCCCCTCCTCCTCGGGCACAGACGACTGTCGTTCTCCACCCACCAGTCAGGGACAGCAGCCTCCCTGTCACTCAGCTGAGAAGGCCAGCCCTCCCT
GGCTGTGAGCAGCCTCCACTGTGTCCAGAGACATGGGCCTCCCACTCCTGTTCCTTGCTAGCCCTGGGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTG
TTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCA
CTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCG
GAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGACCAGCCTCCTGTTTGCAGGCCCAGAGGAGCCAAGTCATTAA
AATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGCCGACTGGCTGTGAGACGAGGCAGGGGCTCTGC
TTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGTCGATGTTTTGGGTATTGAATGTGGTAAGTGG
AGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGCTGAGATGTGGACT
TGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCACCAGCTCCCAACA
GAGGCCTCCCCCAGCCAGGACCACCTCGTCCTCGTGGCGGGGCAGCAGGAGCGGTAGAAAGGGGTCCGATGTTTGAGGAGGCCCTTAAGGGAAGCTACTG
AATTATAACACGTAAGAAAATCACCATTCTTCCGTATTGGTTGGGGGCTCCTGTTTCTCATCCTAGCTTTTTCCTGGAAAGCCCGCTAGAAGGTTTGGGA
ACGAGGGGAAAGTTCTCAGAACTGTTGGCTGCTCCCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCA
GATGTTGTTCCTGGCTAGATGTTTACATTTGTAAGAAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAG
AGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAACCAGTCCTTAGCAAGGGGCTCAGAACACCCCGCTCTGGCAGTAGGTGTCCCCCACCCCCAAAGAC
CTGCCTGTGTGCTCCGGAGATGAATATGAGCTCATTAGTAAAAATGACTTCACCCACGCATATACATAAAGTATCCATGCATGTGCATATAGACACATCT
ATAATTTTACACACACACCTCTCAAGACGGAGATGCATGGCCTCTAAGAGTGCCCGTGTCGGTTCTTCCTGGAAGTTGACTTTCCTTAGACCCGCCAGGT
CAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGGCGAAGATGGTCTCCATATC
AGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTTGCAAATGTGATTAATTTG
GTTGTCAAGTTTTGGGGGTGGGCTGTGGGGAGATTGCTTTTGTTTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGGTAGAATTGTTTGGC
AATGCACTGAAGCGTGTTTCTTTCCCAAAATGTGCCTCCCTTCCGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCAAGTGCTCTTT
GTTACTGTCCACCCTCATTTCTGCCAGCGCATGTGTCCTTTCAAGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGCATCTGAGAAG
GCCCTGTGCCCTAAAGGACACCCCTCGCCCCCATCTTCATGGAGGGGGTCATTTCAGAGCCCTCGGAGCCAATGAACAGCTCCTCCTCTTGGAGCTGAGA
TGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAACTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCCGTTGCGGGGTGGAGTGAGG
TTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCCTCCCCCGCTT
CCTCCCTCTGCGGGGAGGACCCGGGACCACAGCTGCTGGCCAGGGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGAAGAAGGAAGA
TCTTGAGAGCTGCTGAGGGACCTTGGAGAGCTCAGGATGGCTCAGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGGAGCTGCTCAG
AATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAACGCCTTCCCCT
CAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGGTAACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCT
CTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTG
TGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAA
CATTGTACATCCAAATTAAAGGAAAAAAATGGAAACCATCAGT


Protein Sequence     (SEQ ID NO:465):
MELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETL
AAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLVPVEDEHSTLLILGVLLTLRYLVPLLQQQ
VKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSIVELIGKLL
ASPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDIL
SHSSSQVSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLL
KNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESF
FSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAV
RNCVMSLCSSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAAS
LIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALC
LLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALG
DRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSF
YHLPSYLKLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDG
LSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVI
KALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMAS
GRKAVTHAIPALQPIVHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEA
LGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGK
QIKNLPEETFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNLRARSMITTHP
ALVLLWCQILLLVNHTDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISL
SHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQ
LPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTRSDSALLEGAELVNRIPAED
MNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLV
VVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPE
RRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGT
AFPEIPVEFLQEKEVFKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQ
PRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITP
LREEEWDEEEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRV
HPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVL
VMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGK
EKVSPGRTSDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSTGQSS
MVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLL
TCLRNVHKVTTC*



SNP Information


Context              (SEQ ID NO:4178):
CTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCT
Y
CGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAATCCTGCT
Celera SNP ID:                hCV1084101
SNP Position Transcript:      4109
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,25|T,13)  african american(C,37|T,1)  total(C,62|T,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 1137,(L,CTC) (L,CTT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1940|T,1180) ; no_pop(C,-|T,-) ; no_pop(C,1904|T,624)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 1137,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4179):
CAGCTCTGTGATGGCATCATGGCCAGTGGAAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAA
Y
AAATAAAGCTGATGCAGGAAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTC
Celera SNP ID:                hCV2231793
SNP Position Transcript:      4972
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,63|T,29) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1425,(T,ACA) (I,ATA)



Context              (SEQ ID NO:4180):
CACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAA
Y
ACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCC
Celera SNP ID:                hCV2231934
SNP Position Transcript:      7670
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2324,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2324,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4181):
CCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCC
K
CCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGG
Celera SNP ID:                hCV29509193
SNP Position Transcript:      455
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4182):
AGGTCAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGAC
S
TTACATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCC
Celera SNP ID:                hCV27837056
SNP Position Transcript:      1397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|G,36)  african american(C,1|G,31)  total(C,1|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 233,(T,ACG) (T,ACC)



Context              (SEQ ID NO:4183):
TCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACC
R
TTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCT
Celera SNP ID:                hCV25596720
SNP Position Transcript:      3498
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 934,(V,GTT) (I,ATT)



Context              (SEQ ID NO:4184):
TAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGCCCTGGTG
Y
TGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACACAGTCTGTCCAGCACAAA
Celera SNP ID:                hCV26934367
SNP Position Transcript:      5808
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 1704,(L,CTG) (L,TTG)



Context              (SEQ ID NO:4185):
CCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCT
M
AGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAG
Celera SNP ID:                hCV26934365
SNP Position Transcript:      7484
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2262,(L,CTC) (L,CTA)



Context              (SEQ ID NO:4186):
CGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTG
R
GGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGA
Celera SNP ID:                hCV31758132
SNP Position Transcript:      169
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4187):
CCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAC
R
CAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGC
Celera SNP ID:                hCV2229549
SNP Position Transcript:      425
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,92|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4188):
GCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTA
R
CAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGC
Celera SNP ID:                hCV16203024
SNP Position Transcript:      3825
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1043,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4189):
TGGTCGCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATA
Y
CACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTT
Celera SNP ID:                hCV2229303
SNP Position Transcript:      9686
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2996,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:4190):
ATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGAC
Y
GCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAAGTTATTAGCAA
Celera SNP ID:                hCV7565570
SNP Position Transcript:      1502
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,2)  african american(C,29|T,5)  total(C,63|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 268,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,30|T,4)  total(C,67|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 268,(T,ACC) (T,ACT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,604|T,8) ; no_pop(C,248|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 268,(T,ACC) (T,ACT)



Context              (SEQ ID NO:4191):
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCT
K
CCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGC
Celera SNP ID:                hCV2229548
SNP Position Transcript:      467
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4192):
ACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGC
M
GCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCAAGAAAGACCGTGTGAATCATTGT
Celera SNP ID:                hCV2229547
SNP Position Transcript:      523
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4193):
CTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCA
Y
GGAAAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATC
Celera SNP ID:                hCV25596713
SNP Position Transcript:      4087
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1130,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4194):
GCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAG
M
ACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTAT
Celera SNP ID:                hCV16201546
SNP Position Transcript:      4461
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,36|C,2)  total(A,76|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1255,(N,AAC) (H,CAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1255,(N,AAC) (H,CAC)



Context              (SEQ ID NO:4195):
AGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTGCT
R
CAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGG
Celera SNP ID:                hCV2231923
SNP Position Transcript:      8105
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2002|G,1162) ; no_pop(A,-|G,-) ; no_pop(A,1864|G,664)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2469,(L,CTA) (L,CTG)



Context              (SEQ ID NO:4196):
AGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGC
Y
GTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACG
Celera SNP ID:                hCV15851777
SNP Position Transcript:      8561
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,31|T,1)  total(C,71|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2621,(A,GCC) (A,GCT)



Context              (SEQ ID NO:4197):
GCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCT
S
TTAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGG
Celera SNP ID:                hCV11690840
SNP Position Transcript:      1199
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,87|G,5) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 167,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4198):
CTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCT
R
GCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCA
Celera SNP ID:                hCV15756191
SNP Position Transcript:      1844
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1485|A,13) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 382,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4199):
TTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGA
R
CCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGG
Celera SNP ID:                hCV16665
SNP Position Transcript:      6899
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,6|G,18)  african american(A,0|G,32)  total(A,6|G,50)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2067,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,94|G,198) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2067,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4200):
AGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAA
R
TATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTC
Celera SNP ID:                hCV16201492
SNP Position Transcript:      7370
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2224,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4201):
AGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACG
Y
AGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCT
Celera SNP ID:                hCV16201484
SNP Position Transcript:      7740
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:465, 2348,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4202):
CCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAG
R
GGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCT
Celera SNP ID:                hCV25596731
SNP Position Transcript:      2395
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,32)  total(A,1|G,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 566,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4203):
AAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTC
R
CAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAG
Celera SNP ID:                hCV25596740
SNP Position Transcript:      8324
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,34)  total(A,2|G,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2542,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4204):
CGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
R
CACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCG
Celera SNP ID:                hCV29635883
SNP Position Transcript:      421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4205):
GATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAG
S
CAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTG
Celera SNP ID:                hCV7565544
SNP Position Transcript:      3652
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,124|G,3) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 985,(A,GCC) (G,GGC)



Context              (SEQ ID NO:4206):
CCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAACACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGA
R
GGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTA
Celera SNP ID:                hCV25596702
SNP Position Transcript:      5350
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1551,(R,AGG) (K,AAG)



Context              (SEQ ID NO:4207):
TCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTA
M
TTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAA
Celera SNP ID:                hCV2231788
SNP Position Transcript:      5467
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,4|C,28)  african american(A,13|C,23)  total(A,17|C,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1590,(T,ACT) (N,AAT)

SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1590,(T,ACT) (N,AAT)



Context              (SEQ ID NO:4208):
CCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGC
R
TCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCA
Celera SNP ID:                hCV2231920
SNP Position Transcript:      8664
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2104|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,1536|A,540)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 2656,(V,GTC) (I,ATC)



Context              (SEQ ID NO:4209):
GTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTT
W
CCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGT
Celera SNP ID:                hCV16201450
SNP Position Transcript:      9215
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 2839,(F,TTT) (L,TTA)



Context              (SEQ ID NO:4210):
AATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTAT
W
ACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAAGGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACA
Celera SNP ID:                hCV25596700
SNP Position Transcript:      5542
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,0|T,38)  total(A,1|T,77)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:465, 1615,(L,TTA) (*,TAA)



Context              (SEQ ID NO:4211):
CTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGAT
K
TTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGG
Celera SNP ID:                hCV3266243
SNP Position Transcript:      3581
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,39)  african american(G,1|T,37)  total(G,2|T,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 961,(I,ATT) (M,ATG)

SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,892|G,28) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 961,(I,ATT) (M,ATG)



Context              (SEQ ID NO:4212):
GACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTG
S
TGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTT
Celera SNP ID:                hCV16201476
SNP Position Transcript:      7836
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 2380,(V,GTG) (L,CTG)



Context              (SEQ ID NO:4213):
TTGCTGTGTGAGGCAGAACCTGCGGGGGC
R
GGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCG
Celera SNP ID:                hCV2480926
SNP Position Transcript:      30
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,9|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4214):
CTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCG
Y
CGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTAC
Celera SNP ID:                hCV2229550
SNP Position Transcript:      120
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4215):
TCAGTCCAGGAGACCTTGGCTGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCA
Y
AGCGAACCTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGT
Celera SNP ID:                hCV11690841
SNP Position Transcript:      1081
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 128,(I,ATA) (T,ACA)



Context              (SEQ ID NO:4216):
TTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGA
R
GGGCTCATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGT
Celera SNP ID:                hCV1084126
SNP Position Transcript:      2985
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 763,(G,GGG) (R,AGG)



Context              (SEQ ID NO:4217):
CTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGG
M
AGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCC
Celera SNP ID:                hCV16245625
SNP Position Transcript:      3808
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1037,(A,GCA) (E,GAA)



Context              (SEQ ID NO:4218):
CCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATC
Y
ACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGA
Celera SNP ID:                hCV2231945
SNP Position Transcript:      7233
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1866|C,1322) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,1
48|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 2179,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4219):
CCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCT
R
ATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCC
Celera SNP ID:                hCV15882833
SNP Position Transcript:      8465
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1924|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,216|A,24)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:465, 2589,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4220):
CCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCA
K
CCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAG
Celera SNP ID:                hCV16201451
SNP Position Transcript:      9141
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 2815,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4221):
CCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCA
M
ATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGC
Celera SNP ID:                hCV7565389
SNP Position Transcript:      6645
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 1983,(D,GAT) (Y,TAT)



Context              (SEQ ID NO:4222):
AGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTG
V
ATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGC
Celera SNP ID:                hCV7565546
SNP Position Transcript:      3552
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,124|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:465, 952,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4223):
CCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATC
W
CTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGA
Celera SNP ID:                hCV25596739
SNP Position Transcript:      8417
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,4|T,34)  total(A,5|T,73)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4224):
CTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTG
Y
GCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGA
Celera SNP ID:                hCV2229302
SNP Position Transcript:      9796
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,38|T,0)  total(C,74|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,168|T,16) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4225):
GAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTT
R
CAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGG
Celera SNP ID:                hCV2229301
SNP Position Transcript:      10051
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,995|A,559) ; no_pop(G,11|A,3) ; no_pop(G,-|A,-) ; no_pop(G,94
0|A,316)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4226):
TGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGG
S
TGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTG
Celera SNP ID:                hCV2229300
SNP Position Transcript:      10099
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|G,22) ; no_pop(C,11|G,3) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4227):
TCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCT
S
TGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACA
Celera SNP ID:                hCV2229299
SNP Position Transcript:      10111
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4228):
AGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTG
R
TGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTT
Celera SNP ID:                hCV27831124
SNP Position Transcript:      10174
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4229):
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
Y
GCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAG
Celera SNP ID:                hCV27850702
SNP Position Transcript:      10191
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,38|T,0)  total(C,71|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4230):
AGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGC
M
TGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGAT
Celera SNP ID:                hCV2229298
SNP Position Transcript:      10223
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,31)  african american(A,14|C,20)  total(A,17|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,154|A,30) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4231):
TTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGG
R
TGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTA
Celera SNP ID:                hCV27831123
SNP Position Transcript:      10246
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4232):
GGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACC
Y
GGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAA
Celera SNP ID:                hCV2229297
SNP Position Transcript:      10258
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,172|T,12) ; no_pop(C,-|T,-) ; no_pop(C,206|T,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4233):
GGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCT
Y
TCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCT
Celera SNP ID:                hCV7565320
SNP Position Transcript:      10867
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,276) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4234):
GGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCT
Y
GGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTA
Celera SNP ID:                hCV2229296
SNP Position Transcript:      10871
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4235):
CTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACG
K
TGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGA
Celera SNP ID:                hCV16201443
SNP Position Transcript:      10959
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4236):
TGTTTGCAGGCCCAGAGGAGCCAAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGC
Y
GACTGGCTGTGAGACGAGGCAGGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGT
Celera SNP ID:                hCV2229295
SNP Position Transcript:      11169
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,888|T,486) ; no_pop(C,-|T,-) ; no_pop(C,840|T,272)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4237):
ATGTGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGC
K
GAGATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCAC
Celera SNP ID:                hCV2229294
SNP Position Transcript:      11388
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|G,1) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4238):
CCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAA
R
AAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAA
Celera SNP ID:                hCV15835207
SNP Position Transcript:      11835
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4239):
TTCCTTAGACCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGG
M
GAAGATGGTCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTT
Celera SNP ID:                hCV27837055
SNP Position Transcript:      12282
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,40)  african american(A,1|C,35)  total(A,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4240):
AATGTGCCTCCCTTCCGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCAAGTGCTCTTTGTTACTGTCCACCCTCATTTCTGCCAGC
R
CATGTGTCCTTTCAAGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGCATCTGAGAAGGCCCTGTGCCCTAAAGGACACCCCTCGCC
Celera SNP ID:                hCV15955527
SNP Position Transcript:      12629
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1471|A,25) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4241):
CCTCCTCTTGGAGCTGAGATGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAACTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCC
R
TTGCGGGGTGGAGTGAGGTTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGC
Celera SNP ID:                hCV2229293
SNP Position Transcript:      12882
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4242):
GTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCCTCCCCCGCTTCCTCCCTCTG
Y
GGGGAGGACCCGGGACCACAGCTGCTGGCCAGGGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGAAGAAGGAAGATCTTGAGAGCT
Celera SNP ID:                hCV2480534
SNP Position Transcript:      13011
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,13|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4243):
GGACCTTGGAGAGCTCAGGATGGCTCAGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACT
R
AAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCA
Celera SNP ID:                hCV25938831
SNP Position Transcript:      13218
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4244):
GCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTC
W
GGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGGTAACTGCCAGCCTTGGAGGATCGTGGCCAA
Celera SNP ID:                hCV25938509
SNP Position Transcript:      13273
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|T,32)  african american(A,2|T,36)  total(A,2|T,68)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4245):
ACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCAC
R
GTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAG
Celera SNP ID:                hCV25938014
SNP Position Transcript:      13446
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4246):
GCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTC
R
GAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAG
Celera SNP ID:                hCV7565316
SNP Position Transcript:      13453
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,37|G,1)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Context              (SEQ ID NO:4247):
ACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCT
R
AATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAA
Celera SNP ID:                hCV7565312
SNP Position Transcript:      13534
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:465, None



Gene Number:                  86
Celera Gene:                  hCG1984846 - 120000094638946
Celera Transcript:            hCT2259415 - 120000094639018
Public Transcript Accession:
Celera Protein:               hCP1865465 - 197000069388599
Public Protein Accession:
Gene Symbol:                  HD
Protein Name:                  huntingtin (Huntington disease)
Celera Genomic Axis:          GA_x5YUV32W0YB(5881949..6063676)
Chromosome:                   4
OMIM NUMBER:                  143100
OMIM Information:             Huntington disease (3)


Transcript Sequence  (SEQ ID NO:205):
TTGCTGTGTGAGGCAGAACCTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGG
CGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGC
CGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGAGTCGGCCCGAGGCCTCCGGGGACTGCCGTGC
CGGGCGGGAGACCGCCATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTG
CCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCA
AGAAAGACCGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAGTCTGTCAGAAATTCTCCAGAATTTCAGAAACTTCTGGGCATCGCTAT
GGAACTTTTTCTGCTGTGCAGTGATGACGCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTGATGGATTCTAAT
CTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGTGCCCCTCGGAGTTTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACC
TGGTTCGGCCTCAGAAATGCAGGCCTTACCTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAGAGACCCGAAGAATCAGTCCAGGAGACCTTGGC
TGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCATAGCGAACCTGAAGTCAAGC
TCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCT
TAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGGT
CAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGACGTTA
CATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGA
CCGCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAACTGGAGGGG
GTTCCTCATGCAGCCCTGTCCTTTCAAGAAAACAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGATCGGATGT
CAGCAGCTCTGCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTGGCTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATC
ATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGG
ATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCATGGACCTGAATGATGGGACCCAGGCCTCGTCGCCCATCAGCGACAG
CTCCCAGACCACCACCGAAGGGCCTGATTCAGCTGTTACCCCTTCAGACAGTTCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAG
ATTGGACAGCCCCAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGGAACTCTTCCATGGCCCTTCAACAGGCAC
ATTTATTGAAAAACATGAGTCACTGCAGGCAGCCTTCTGACAGCAGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGATCAAGAAAA
CAAGCCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTA
ACAGGGGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGG
AATCTTTCTTCAGCAAACTCTATAAAGTTCCTCTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATCGATCATGGAGA
CCCACAGGTTCGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCCATCCTCAGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATT
AGAACCCTCACAGGAAATACATTTTCTTTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAGTCTTCTGTTACTTGCAAGTTAGCTTGTA
CAGCTGTGAGGAACTGTGTCATGAGTCTCTGCAGCAGCAGCTACAGTGAGTTAGGACTGCAGCTGATCATCGATGTGCTGACTCTGAGGAACAGTTCCTA
TTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCT
CATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGTTGCCG
CAGCATCACTAATTAGGCTTGTCCCAAAGCTGTTTTATAAATGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGCAGTGTTTA
CCTGAAACTTCTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGCACAATAACCAGAATATATAGAGGCTATAACCTACTACCAAGCATAACA
GACGTCACTATGGAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCTCATGAACTAATCACATCAACCACCAGAGCACTCACATTTGGATGCTGTGAAG
CTTTGTGTCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAG
CTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGA
AACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAG
CCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCC
TGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCA
TCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGTCCTGTTACAACAAGTAAATCCTCATCACTGG
GGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGA
AAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTA
GGATACCTGAAATCCTGCTTTAGTCGAGAACCAATGATGGCAACTGTTTGTGTTCAACAATTGTTGAAGACTCTCTTTGGCACAAACTTGGCCTCCCAGT
TTGATGGCTTATCTTCCAACCCCAGCAAGTCACAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTACCACTACTGCTTCATGGC
CCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTC
CAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATTCATAATCACATTCGTTTGTTTGAACCTC
TTGTTATAAAAGCTTTAAAACAGTACACGACTACAACATGTGTGCAGTTACAGAAGCAGGTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTACGGGTTAA
TTACTGTCTTCTGGATTCAGATCAGGTGTTTATTGGCTTTGTATTGAAACAGTTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATCATT
CCAAACATCTTTTTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGAATTCCTAAAATCATTCAGCTCTGTGATGGCATCA
TGGCCAGTGGAAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAACAAATAAAGCTGATGCAGG
AAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTCATTCTTGTCCTGCAGCAG
TGCCACAAGGAGAATGAAGACAAGTGGAAGCGACTGTCTCGACAGATAGCTGACATCATCCTCCCAATGTTAGCCAAACAGCAGATGCACATTGACTCTC
ATGAAGCCCTTGGAGTGTTAAATACATTATTTGAGATTTTGGCCCCTTCCTCCCTCCGTCCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAA
CACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGAGGGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCT
CGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTG
AAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAA
GGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACACTGCTAATGTGTCTGATCCACATCTTCAAGTCTGGAATGTTCCGGAGA
ATCACAGCAGCTGCCACTAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCA
CCCACCCGGCCCTGGTGCTGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACA
CAGTCTGTCCAGCACAAAGTTACTTAGTCCCCAGATGTCTGGAGAAGAGGAGGATTCTGACTTGGCAGCCAAACTTGGAATGTGCAATAGAGAAATAGTA
CGAAGAGGGGCTCTCATTCTCTTCTGTGATTATGTCTGTCAGAACCTCCATGACTCCGAGCACTTAACGTGGCTCATTGTAAATCACATTCAAGATCTGA
TCAGCCTTTCCCACGAGCCTCCAGTACAGGACTTCATCAGTGCCGTTCATCGGAACTCTGCTGCCAGCGGCCTGTTCATCCAGGCAATTCAGTCTCGTTG
TGAAAACCTTTCAACTCCAACCATGCTGAAGAAAACTCTTCAGTGCTTGGAGGGGATCCATCTCAGCCAGTCGGGAGCTGTGCTCACGCTGTATGTGGAC
AGGCTTCTGTGCACCCCTTTCCGTGTGCTGGCTCGCATGGTCGACATCCTTGCTTGTCGCCGGGTAGAAATGCTTCTGGCTGCAAATTTACAGAGCAGCA
TGGCCCAGTTGCCAATGGAAGAACTCAACAGAATCCAGGAATACCTTCAGAGCAGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTGCTGGACAG
GTTTCGTCTCTCCACCATGCAAGACTCACTTAGTCCCTCTCCTCCAGTCTCTTCCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGT
CCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCAGATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTG
CTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGTGGCCAGAA
GAGTGCCCTTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTG
CCTGCAGAGCCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGT
ACCTGGTGGTGGTCTCCAAACTGCCCAGTCATTTGCACCTTCCTCCTGAGAAAGAGAAGGACATTGTGAAATTCGTGGTGGCAACCCTTGAGGCCCTGTC
CTGGCATTTGATCCATGAGCAGATCCCGCTGAGTCTGGATCTCCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTG
GTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTA
GTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAAGTATATCACTGCAGCCTGTGA
GATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCTCAGGAAC
ATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAGGGGATT
TTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCG
TACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAG
AGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGG
AGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTTTGGGAGGAAGCTGAGCATTATCAGAGGGATTGTGGAGCAAGAGATTCAAGCAAT
GGTTTCAAAGAGAGAGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCAC
GAGAAGCTGCTGCTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCA
TCACACCCCTGAGGGAGGAGGAATGGGACGAGGAAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAA
ACACCGGGCTGGAGTTGACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCC
ATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGC
GAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCCGTGGCGGA
GCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTG
CTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCACTGCGTGAACATTCACAGCCAGCAGC
ACGTACTGGTCATGTGTGCCACTGCGTTTTACCTCATTGAGAACTATCCTCTGGACGTAGGGCCGGAATTTTCAGCATCAATAATACAGATGTGTGGGGT
GATGCTGTCTGGAAGTGAGGAGTCCACCCCCTCCATCATTTACCACTGTGCCCTCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTG
GATGCAGAATCGCTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACA
CAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCT
TTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATG
AACAAAGTCATCGGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTCATGGCCACCGTGGTGTATAAGGTGTTTCAGACTCTGCACAGCACCGGGC
AGTCGTCCATGGTCCGGGACTGGGTCATGCTGTCCCTCTCCAACTTCACGCAGAGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCCTGCTTCTTTGT
CAGCGCGTCCACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGCAGGATGGGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTC
GCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATATCACC
GGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAA
GTCTGCGCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGT
GGCAGAAGTGCTCTTTGTGGCAGTGGCCAGGCAGGGAGTGTCTGCAGTCCTGGTGGGGCTGAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGC
ACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTG
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
CGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCA
GGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAAGTATGTGAATCGCAAGGCCTGTGCTGCATGCG
ACAGCGTCCGGGGTGGTGGACAGGGCCCCCGGCCACGCTCCCTCTCCTGTAGCCACTGGCATAGCCCTCCTGAGCACCCGCTGACATTTCCGTTGTACAT
GTTCCTGTTTATGCATTCACAAGGTGACTGGGATGTAGAGAGGCGTTAGTGGGCAGGTGGCCACAGCAGGACTGAGGACAGGCCCCCATTATCCTAGGGG
TGCGCTCACCTGCAGCCCCTCCTCCTCGGGCACAGACGACTGTCGTTCTCCACCCACCAGTCAGGGACAGCAGCCTCCCTGTCACTCAGCTGAGAAGGCC
AGCCCTCCCTGGCTGTGAGCAGCCTCCACTGTGTCCAGAGACATGGGCCTCCCACTCCTGTTCCTTGCTAGCCCTGGGGTGGCGTCTGCCTAGGAGCTGG
CTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCTCGGTCAACAGCAAAGCTTGG
TGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTAGTCAGGAGAGTGCAGATCT
GTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGACCAGCCTCCTGTTTGCAGGCCCAGAGGAGCC
AAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGCCGACTGGCTGTGAGACGAGGCA
GGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGTCGATGTTTTGGGTATTGAATG
TGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGCTGA
GATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCACCA
GCTCCCAACAGAGGCCTCCCCCAGCCAGGACCACCTCGTCCTCGTGGCGGGGCAGCAGGAGCGGTAGAAAGGGGTCCGATGTTTGAGGAGGCCCTTAAGG
GAAGCTACTGAATTATAACACGTAAGAAAATCACCATTCTTCCGTATTGGTTGGGGGCTCCTGTTTCTCATCCTAGCTTTTTCCTGGAAAGCCCGCTAGA
AGGTTTGGGAACGAGGGGAAAGTTCTCAGAACTGTTGGCTGCTCCCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTA
TCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAAGAAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGG
CTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAACCAGTCCTTAGCAAGGGGCTCAGAACACCCCGCTCTGGCAGTAGGTGTCCCCCAC
CCCCAAAGACCTGCCTGTGTGCTCCGGAGATGAATATGAGCTCATTAGTAAAAATGACTTCACCCACGCATATACATAAAGTATCCATGCATGTGCATAT
AGACACATCTATAATTTTACACACACACCTCTCAAGACGGAGATGCATGGCCTCTAAGAGTGCCCGTGTCGGTTCTTCCTGGAAGTTGACTTTCCTTAGA
CCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGGCGAAGATGG
TCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTTGCAAATGT
GATTAATTTGGTTGTCAAGTTTTGGGGGTGGGCTGTGGGGAGATTGCTTTTGTTTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGGTAGA
ATTGTTTGGCAATGCACTGAAGCGTGTTTCTTTCCCAAAATGTGCCTCCCTTCCGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCA
AGTGCTCTTTGTTACTGTCCACCCTCATTTCTGCCAGCGCATGTGTCCTTTCAAGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGC
ATCTGAGAAGGCCCTGTGCCCTAAAGGACACCCCTCGCCCCCATCTTCATGGAGGGGGTCATTTCAGAGCCCTCGGAGCCAATGAACAGCTCCTCCTCTT
GGAGCTGAGATGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAACTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCCGTTGCGGGG
TGGAGTGAGGTTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCC
TCCCCCGCTTCCTCCCTCTGCGGGGAGGACCCGGGACCACAGCTGCTGGCCAGGGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGA
AGAAGGAAGATCTTGAGAGCTGCTGAGGGACCTTGGAGAGCTCAGGATGGCTCAGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGG
AGCTGCTCAGAATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAAC
GCCTTCCCCTCAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGGTAACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGG
AGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCC
AGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAA
CTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAAACCATCAGT


Protein Sequence     (SEQ ID NO:466):
MDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVD
KFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYP
EEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSSSYSEL
GLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQG
QADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGW
HCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQLFSHL
LKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKA
THANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQGRAQRL
GSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTCVQLQ
KQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPI
VHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSS
LRPVDMLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETFSRFLL
QLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNH
TDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHR
NSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQEYLQS
SGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLL
APCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLHLPPEK
EKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAISEEEEE
VDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEV
FKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGR
KLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEEEEEAD
APAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPA
TCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPL
DVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSDPNPAA
PDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQ
RAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC*



SNP Information


Context              (SEQ ID NO:4248):
CTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCT
Y
CGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAATCCTGCT
Celera SNP ID:                hCV1084101
SNP Position Transcript:      4119
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,25|T,13)  african american(C,37|T,1)  total(C,62|T,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 722,(L,CTC) (L,CTT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1940|T,1180) ; no_pop(C,-|T,-) ; no_pop(C,1904|T,624)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 722,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4249):
CAGCTCTGTGATGGCATCATGGCCAGTGGAAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAA
Y
AAATAAAGCTGATGCAGGAAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTC
Celera SNP ID:                hCV2231793
SNP Position Transcript:      4982
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,63|T,29) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1010,(T,ACA) (I,ATA)



Context              (SEQ ID NO:4250):
CACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAA
Y
ACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCC
Celera SNP ID:                hCV2231934
SNP Position Transcript:      7680
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1909,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1909,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4251):
CCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCC
K
CCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGG
Celera SNP ID:                hCV29509193
SNP Position Transcript:      455
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4252):
AGGTCAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGAC
S
TTACATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCC
Celera SNP ID:                hCV27837056
SNP Position Transcript:      1397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|G,36)  african american(C,1|G,31)  total(C,1|G,67)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4253):
TCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACC
R
TTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCT
Celera SNP ID:                hCV25596720
SNP Position Transcript:      3508
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 519,(V,GTT) (I,ATT)



Context              (SEQ ID NO:4254):
TAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGCCCTGGTG
Y
TGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACACAGTCTGTCCAGCACAAA
Celera SNP ID:                hCV26934367
SNP Position Transcript:      5818
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1289,(L,CTG) (L,TTG)



Context              (SEQ ID NO:4255):
CCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCT
M
AGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAG
Celera SNP ID:                hCV26934365
SNP Position Transcript:      7494
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1847,(L,CTC) (L,CTA)



Context              (SEQ ID NO:4256):
CGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTG
R
GGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGA
Celera SNP ID:                hCV31758132
SNP Position Transcript:      169
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4257):
CCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAC
R
CAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGC
Celera SNP ID:                hCV2229549
SNP Position Transcript:      425
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,92|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4258):
GCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTA
R
CAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGC
Celera SNP ID:                hCV16203024
SNP Position Transcript:      3835
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 628,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4259):
TGGTCGCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATA
Y
CACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTT
Celera SNP ID:                hCV2229303
SNP Position Transcript:      9696
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 2581,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:4260):
ATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGAC
Y
GCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAACTGGAGGGGGT
Celera SNP ID:                hCV7565570
SNP Position Transcript:      1502
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,2)  african american(C,29|T,5)  total(C,63|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,30|T,4)  total(C,67|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,604|T,8) ; no_pop(C,248|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4261):
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCT
K
CCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGC
Celera SNP ID:                hCV2229548
SNP Position Transcript:      467
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4262):
ACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGC
M
GCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCAAGAAAGACCGTGTGAATCATTGT
Celera SNP ID:                hCV2229547
SNP Position Transcript:      523
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4263):
CTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCA
Y
GGAAAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATC
Celera SNP ID:                hCV25596713
SNP Position Transcript:      4097
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 715,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4264):
GCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAG
M
ACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTAT
Celera SNP ID:                hCV16201546
SNP Position Transcript:      4471
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,36|C,2)  total(A,76|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 840,(N,AAC) (H,CAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 840,(N,AAC) (H,CAC)



Context              (SEQ ID NO:4265):
AGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTGCT
R
CAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGG
Celera SNP ID:                hCV2231923
SNP Position Transcript:      8115
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2002|G,1162) ; no_pop(A,-|G,-) ; no_pop(A,1864|G,664)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 2054,(L,CTA) (L,CTG)



Context              (SEQ ID NO:4266):
AGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGC
Y
GTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACG
Celera SNP ID:                hCV15851777
SNP Position Transcript:      8571
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,31|T,1)  total(C,71|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 2206,(A,GCC) (A,GCT)



Context              (SEQ ID NO:4267):
GCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCT
S
TTAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGG
Celera SNP ID:                hCV11690840
SNP Position Transcript:      1199
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,87|G,5) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4268):
CTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCT
R
GCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCA
Celera SNP ID:                hCV15756191
SNP Position Transcript:      1854
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1485|A,13) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4269):
TTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGA
R
CCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGG
Celera SNP ID:                hCV16665
SNP Position Transcript:      6909
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,6|G,18)  african american(A,0|G,32)  total(A,6|G,50)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1652,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,94|G,198) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1652,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4270):
AGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAA
R
TATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTC
Celera SNP ID:                hCV16201492
SNP Position Transcript:      7380
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 1809,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4271):
AGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACG
Y
AGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCT
Celera SNP ID:                hCV16201484
SNP Position Transcript:      7750
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:466, 1933,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4272):
CCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAG
R
GGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCT
Celera SNP ID:                hCV25596731
SNP Position Transcript:      2405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,32)  total(A,1|G,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 151,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4273):
AAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTC
R
CAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAG
Celera SNP ID:                hCV25596740
SNP Position Transcript:      8334
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,34)  total(A,2|G,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 2127,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4274):
CGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
R
CACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCG
Celera SNP ID:                hCV29635883
SNP Position Transcript:      421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4275):
GATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAG
S
CAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTG
Celera SNP ID:                hCV7565544
SNP Position Transcript:      3662
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,124|G,3) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 570,(A,GCC) (G,GGC)



Context              (SEQ ID NO:4276):
CCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAACACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGA
R
GGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTA
Celera SNP ID:                hCV25596702
SNP Position Transcript:      5360
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1136,(R,AGG) (K,AAG)



Context              (SEQ ID NO:4277):
TCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTA
M
TTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAA
Celera SNP ID:                hCV2231788
SNP Position Transcript:      5477
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,4|C,28)  african american(A,13|C,23)  total(A,17|C,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1175,(T,ACT) (N,AAT)

SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1175,(T,ACT) (N,AAT)



Context              (SEQ ID NO:4278):
CCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGC
R
TCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCA
Celera SNP ID:                hCV2231920
SNP Position Transcript:      8674
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2104|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,1536|A,540)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 2241,(V,GTC) (I,ATC)



Context              (SEQ ID NO:4279):
GTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTT
W
CCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGT
Celera SNP ID:                hCV16201450
SNP Position Transcript:      9225
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 2424,(F,TTT) (L,TTA)



Context              (SEQ ID NO:4280):
AATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTAT
W
ACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAAGGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACA
Celera SNP ID:                hCV25596700
SNP Position Transcript:      5552
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,0|T,38)  total(A,1|T,77)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:466, 1200,(L,TTA) (*,TAA)



Context              (SEQ ID NO:4281):
CTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGAT
K
TTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGG
Celera SNP ID:                hCV3266243
SNP Position Transcript:      3591
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,39)  african american(G,1|T,37)  total(G,2|T,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 546,(I,ATT) (M,ATG)

SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,892|G,28) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 546,(I,ATT) (M,ATG)



Context              (SEQ ID NO:4282):
GACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTG
S
TGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTT
Celera SNP ID:                hCV16201476
SNP Position Transcript:      7846
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1965,(V,GTG) (L,CTG)



Context              (SEQ ID NO:4283):
TTGCTGTGTGAGGCAGAACCTGCGGGGGC
R
GGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCG
Celera SNP ID:                hCV2480926
SNP Position Transcript:      30
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,9|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4284):
CTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCG
Y
CGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTAC
Celera SNP ID:                hCV2229550
SNP Position Transcript:      120
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4285):
TCAGTCCAGGAGACCTTGGCTGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCA
Y
AGCGAACCTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGT
Celera SNP ID:                hCV11690841
SNP Position Transcript:      1081
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4286):
TTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGA
R
GGGCTCATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGT
Celera SNP ID:                hCV1084126
SNP Position Transcript:      2995
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 348,(G,GGG) (R,AGG)



Context              (SEQ ID NO:4287):
CTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGG
M
AGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCC
Celera SNP ID:                hCV16245625
SNP Position Transcript:      3818
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 622,(A,GCA) (E,GAA)



Context              (SEQ ID NO:4288):
CCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATC
Y
ACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGA
Celera SNP ID:                hCV2231945
SNP Position Transcript:      7243
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1866|C,1322) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,1
48|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1764,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4289):
CCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCT
R
ATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCC
Celera SNP ID:                hCV15882833
SNP Position Transcript:      8475
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1924|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,216|A,24)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:466, 2174,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4290):
CCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCA
K
CCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAG
Celera SNP ID:                hCV16201451
SNP Position Transcript:      9151
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 2400,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4291):
CCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCA
M
ATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGC
Celera SNP ID:                hCV7565389
SNP Position Transcript:      6655
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 1568,(D,GAT) (Y,TAT)



Context              (SEQ ID NO:4292):
AGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTG
V
ATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGC
Celera SNP ID:                hCV7565546
SNP Position Transcript:      3562
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,124|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:466, 537,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4293):
CCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATC
W
CTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGA
Celera SNP ID:                hCV25596739
SNP Position Transcript:      8427
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,4|T,34)  total(A,5|T,73)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4294):
CTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTG
Y
GCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGA
Celera SNP ID:                hCV2229302
SNP Position Transcript:      9806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,38|T,0)  total(C,74|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,168|T,16) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4295):
GAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTT
R
CAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGG
Celera SNP ID:                hCV2229301
SNP Position Transcript:      10061
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,995|A,559) ; no_pop(G,11|A,3) ; no_pop(G,-|A,-) ; no_pop(G,94
0|A,316)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4296):
TGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGG
S
TGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTG
Celera SNP ID:                hCV2229300
SNP Position Transcript:      10109
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|G,22) ; no_pop(C,11|G,3) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4297):
TCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCT
S
TGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACA
Celera SNP ID:                hCV2229299
SNP Position Transcript:      10121
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4298):
AGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTG
R
TGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTT
Celera SNP ID:                hCV27831124
SNP Position Transcript:      10184
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4299):
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
Y
GCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAG
Celera SNP ID:                hCV27850702
SNP Position Transcript:      10201
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,38|T,0)  total(C,71|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4300):
AGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGC
M
TGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGAT
Celera SNP ID:                hCV2229298
SNP Position Transcript:      10233
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,31)  african american(A,14|C,20)  total(A,17|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,154|A,30) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4301):
TTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGG
R
TGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTA
Celera SNP ID:                hCV27831123
SNP Position Transcript:      10256
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4302):
GGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACC
Y
GGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAA
Celera SNP ID:                hCV2229297
SNP Position Transcript:      10268
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,172|T,12) ; no_pop(C,-|T,-) ; no_pop(C,206|T,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4303):
GGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCT
Y
TCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCT
Celera SNP ID:                hCV7565320
SNP Position Transcript:      10877
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,276) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4304):
GGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCT
Y
GGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTA
Celera SNP ID:                hCV2229296
SNP Position Transcript:      10881
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4305):
CTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACG
K
TGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGA
Celera SNP ID:                hCV16201443
SNP Position Transcript:      10969
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4306):
TGTTTGCAGGCCCAGAGGAGCCAAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGC
Y
GACTGGCTGTGAGACGAGGCAGGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGT
Celera SNP ID:                hCV2229295
SNP Position Transcript:      11179
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,888|T,486) ; no_pop(C,-|T,-) ; no_pop(C,840|T,272)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4307):
ATGTGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGC
K
GAGATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCAC
Celera SNP ID:                hCV2229294
SNP Position Transcript:      11398
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|G,1) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4308):
CCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAA
R
AAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAA
Celera SNP ID:                hCV15835207
SNP Position Transcript:      11845
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4309):
TTCCTTAGACCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGG
M
GAAGATGGTCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTT
Celera SNP ID:                hCV27837055
SNP Position Transcript:      12292
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,40)  african american(A,1|C,35)  total(A,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4310):
AATGTGCCTCCCTTCCGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCAAGTGCTCTTTGTTACTGTCCACCCTCATTTCTGCCAGC
R
CATGTGTCCTTTCAAGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGCATCTGAGAAGGCCCTGTGCCCTAAAGGACACCCCTCGCC
Celera SNP ID:                hCV15955527
SNP Position Transcript:      12639
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1471|A,25) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4311):
CCTCCTCTTGGAGCTGAGATGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAACTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCC
R
TTGCGGGGTGGAGTGAGGTTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGC
Celera SNP ID:                hCV2229293
SNP Position Transcript:      12892
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4312):
GTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCCTCCCCCGCTTCCTCCCTCTG
Y
GGGGAGGACCCGGGACCACAGCTGCTGGCCAGGGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGAAGAAGGAAGATCTTGAGAGCT
Celera SNP ID:                hCV2480534
SNP Position Transcript:      13021
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,13|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4313):
GGACCTTGGAGAGCTCAGGATGGCTCAGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACT
R
AAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCA
Celera SNP ID:                hCV25938831
SNP Position Transcript:      13228
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4314):
GCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTC
W
GGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGGTAACTGCCAGCCTTGGAGGATCGTGGCCAA
Celera SNP ID:                hCV25938509
SNP Position Transcript:      13283
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|T,32)  african american(A,2|T,36)  total(A,2|T,68)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4315):
ACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCAC
R
GTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAG
Celera SNP ID:                hCV25938014
SNP Position Transcript:      13456
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4316):
GCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTC
R
GAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAG
Celera SNP ID:                hCV7565316
SNP Position Transcript:      13463
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,37|G,1)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Context              (SEQ ID NO:4317):
ACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCT
R
AATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAA
Celera SNP ID:                hCV7565312
SNP Position Transcript:      13544
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:466, None



Gene Number:                  86
Celera Gene:                  hCG1984846 - 120000094638946
Celera Transcript:            hCT2259416 - 120000094639108
Public Transcript Accession:
Celera Protein:               hCP1865467 - 197000069388601
Public Protein Accession:
Gene Symbol:                  HD
Protein Name:                  huntingtin (Huntington disease)
Celera Genomic Axis:          GA_x5YUV32W0YB(5881949..6063676)
Chromosome:                   4
OMIM NUMBER:                  143100
OMIM Information:             Huntington disease (3)


Transcript Sequence  (SEQ ID NO:206):
TTGCTGTGTGAGGCAGAACCTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGG
CGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGC
CGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGAGTCGGCCCGAGGCCTCCGGGGACTGCCGTGC
CGGGCGGGAGACCGCCATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTG
CCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCA
AGAAAGACCGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAGTCTGTCAGAAATTCTCCAGAATTTCAGAAACTTCTGGGCATCGCTAT
GGAACTTTTTCTGCTGTGCAGTGATGACGCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTGATGGATTCTAAT
CTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGTGCCCCTCGGAGTTTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACC
TGGTTCGGCCTCAGAAATGCAGGCCTTACCTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAGAGACCCGAAGAATCAGTCCAGGAGACCTTGGC
TGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCATAGCGAACCTGAAGTCAAGC
TCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCT
TAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGGT
CAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGACGTTA
CATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGA
CCGCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAAGTTATTAGC
AAGCCCTGTCCTTTCAAGAAAACAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGATCGGATGTCAGCAGCTCT
GCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTGGCTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAAC
AGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAG
CCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCATGGACCTGAATGATGGGACCCAGGCCTCGTCGCCCATCAGCGACAGCTCCCAGACC
ACCACCGAAGGGCCTGATTCAGCTGTTACCCCTTCAGACAGTTCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAGATTGGACAGC
CCCAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGGAACTCTTCCATGGCCCTTCAACAGGCACATTTATTGAA
AAACATGAGTCACTGCAGGCAGCCTTCTGACAGCAGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGATCAAGAAAACAAGCCTTGC
CGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAGGGGGAA
AAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCTTTCTT
CAGCAAACTCTATAAAGTTCCTCTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATCGATCATGGAGACCCACAGGTT
CGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCCATCCTCAGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATTAGAACCCTCA
CAGGAAATACATTTTCTTTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAGTCTTCTGTTACTTGCAAGTTAGCTTGTACAGCTGTGAG
GAACTGTGTCATGAGTCTCTGCAGCAGCAGCTACAGTGAGTTAGGACTGCAGCTGATCATCGATGTGCTGACTCTGAGGAACAGTTCCTATTGGCTGGTG
AGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCTCATCATTATA
CAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGTTGCCGCAGCATCACT
AATTAGGCTTGTCCCAAAGCTGTTTTATAAATGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGCAGTGTTTACCTGAAACTT
CTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGCACAATAACCAGAATATATAGAGGCTATAACCTACTACCAAGCATAACAGACGTCACTA
TGGAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCTCATGAACTAATCACATCAACCACCAGAGCACTCACATTTGGATGCTGTGAAGCTTTGTGTCT
TCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTT
GGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTG
CAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGA
CCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCA
ATAAAGGCAGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGT
TGAGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGTCCTGTTACAACAAGTAAATCCTCATCACTGGGGAGTTTCTA
TCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGA
GGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGA
AATCCTGCTTTAGTCGAGAACCAATGATGGCAACTGTTTGTGTTCAACAATTGTTGAAGACTCTCTTTGGCACAAACTTGGCCTCCCAGTTTGATGGCTT
ATCTTCCAACCCCAGCAAGTCACAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACC
CACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGT
CTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATTCATAATCACATTCGTTTGTTTGAACCTCTTGTTATAAA
AGCTTTAAAACAGTACACGACTACAACATGTGTGCAGTTACAGAAGCAGGTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTACGGGTTAATTACTGTCTT
CTGGATTCAGATCAGGTGTTTATTGGCTTTGTATTGAAACAGTTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATCATTCCAAACATCT
TTTTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGAATTCCTAAAATCATTCAGCTCTGTGATGGCATCATGGCCAGTGG
AAGGAAGGCTGTGACACATGGTAACGGGACACACCTTTCACTGTCCATGGCCCAGTTGCCAATGGAAGAACTCAACAGAATCCAGGAATACCTTCAGAGC
AGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTGCTGGACAGGTTTCGTCTCTCCACCATGCAAGACTCACTTAGTCCCTCTCCTCCAGTCTCTT
CCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTC
AGATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTA
GCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGTGGCCAGAAGAGTGCCCTTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCA
CCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGAGCCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGC
TGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGGTGGTCTCCAAACTGCCCAGTCATTTGCACCTTCCTCCTGAGAAA
GAGAAGGACATTGTGAAATTCGTGGTGGCAACCCTTGAGGCCCTGTCCTGGCATTTGATCCATGAGCAGATCCCGCTGAGTCTGGATCTCCAGGCAGGGC
TGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCA
CTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAA
GTAGATCCAAACACACAGAATCCTAAGTATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATA
AAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCTCAGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCC
CCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTC
TTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGC
CCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCTCAG
TGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTTTGGGAGG
AAGCTGAGCATTATCAGAGGGATTGTGGAGCAAGAGATTCAAGCAATGGTTTCAAAGAGAGAGAATATTGCCACCCATCATTTATATCAGGCATGGGATC
CTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTGCTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTA
CAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGGAGGAGGAATGGGACGAGGAAGAGGAGGAGGAGGCCGAC
GCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTGT
ACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCAC
CGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCC
ACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCA
GGGTTGGAGCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTC
CAACCTGAAAGGGATCGCCCACTGCGTGAACATTCACAGCCAGCAGCACGTACTGGTCATGTGTGCCACTGCGTTTTACCTCATTGAGAACTATCCTCTG
GACGTAGGGCCGGAATTTTCAGCATCAATAATACAGATGTGTGGGGTGATGCTGTCTGGAAGTGAGGAGTCCACCCCCTCCATCATTTACCACTGTGCCC
TCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTGGATGCAGAATCGCTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCC
GCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCAGCC
CCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGGA
TCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTCAT
GGCCACCGTGGTGTATAAGGTGTTTCAGACTCTGCACAGCACCGGGCAGTCGTCCATGGTCCGGGACTGGGTCATGCTGTCCCTCTCCAACTTCACGCAG
AGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCCTGCTTCTTTGTCAGCGCGTCCACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGCA
GGATGGGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTCGCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTT
CCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATATCACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCA
TGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTGCGCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTT
CCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGAAGTGCTCTTTGTGGCAGTGGCCAGGCAGGGAGTGTCTGCAGTCCTGG
TGGGGCTGAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTG
CCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAG
GCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGG
GGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTT
CTATGCCCGTGTAAAGTATGTGAATCGCAAGGCCTGTGCTGCATGCGACAGCGTCCGGGGTGGTGGACAGGGCCCCCGGCCACGCTCCCTCTCCTGTAGC
CACTGGCATAGCCCTCCTGAGCACCCGCTGACATTTCCGTTGTACATGTTCCTGTTTATGCATTCACAAGGTGACTGGGATGTAGAGAGGCGTTAGTGGG
CAGGTGGCCACAGCAGGACTGAGGACAGGCCCCCATTATCCTAGGGGTGCGCTCACCTGCAGCCCCTCCTCCTCGGGCACAGACGACTGTCGTTCTCCAC
CCACCAGTCAGGGACAGCAGCCTCCCTGTCACTCAGCTGAGAAGGCCAGCCCTCCCTGGCTGTGAGCAGCCTCCACTGTGTCCAGAGACATGGGCCTCCC
ACTCCTGTTCCTTGCTAGCCCTGGGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCAC
TGAGCTGTGTTTTGTCTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAG
CTGACATCTTGCACGGTGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCC
AGGCCAGGTCCCTGGACCAGCCTCCTGTTTGCAGGCCCAGAGGAGCCAAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGG
AGCTGGATTTGGGAGCTCTGCTTGCCGACTGGCTGTGAGACGAGGCAGGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTC
ATGTGGCTTGGTTTGGTCATGCCCGTCGATGTTTTGGGTATTGAATGTGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCC
AAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGCTGAGATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCC
CTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCACCAGCTCCCAACAGAGGCCTCCCCCAGCCAGGACCACCTCGTCCTCGTGGCGGGGC
AGCAGGAGCGGTAGAAAGGGGTCCGATGTTTGAGGAGGCCCTTAAGGGAAGCTACTGAATTATAACACGTAAGAAAATCACCATTCTTCCGTATTGGTTG
GGGGCTCCTGTTTCTCATCCTAGCTTTTTCCTGGAAAGCCCGCTAGAAGGTTTGGGAACGAGGGGAAAGTTCTCAGAACTGTTGGCTGCTCCCCACCCGC
CTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAAGAAATAACA
CTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAACCAGTCCT
TAGCAAGGGGCTCAGAACACCCCGCTCTGGCAGTAGGTGTCCCCCACCCCCAAAGACCTGCCTGTGTGCTCCGGAGATGAATATGAGCTCATTAGTAAAA
ATGACTTCACCCACGCATATACATAAAGTATCCATGCATGTGCATATAGACACATCTATAATTTTACACACACACCTCTCAAGACGGAGATGCATGGCCT
CTAAGAGTGCCCGTGTCGGTTCTTCCTGGAAGTTGACTTTCCTTAGACCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCA
GGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGGCGAAGATGGTCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAA
ATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTTGCAAATGTGATTAATTTGGTTGTCAAGTTTTGGGGGTGGGCTGTGGGGAGATTGCTTTTGT
TTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGGTAGAATTGTTTGGCAATGCACTGAAGCGTGTTTCTTTCCCAAAATGTGCCTCCCTTC
CGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCAAGTGCTCTTTGTTACTGTCCACCCTCATTTCTGCCAGCGCATGTGTCCTTTCA
AGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGCATCTGAGAAGGCCCTGTGCCCTAAAGGACACCCCTCGCCCCCATCTTCATGGA
GGGGGTCATTTCAGAGCCCTCGGAGCCAATGAACAGCTCCTCCTCTTGGAGCTGAGATGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAA
CTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCCGTTGCGGGGTGGAGTGAGGTTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCT
ACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCCTCCCCCGCTTCCTCCCTCTGCGGGGAGGACCCGGGACCACAGCTGCTGGCCAG
GGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGAAGAAGGAAGATCTTGAGAGCTGCTGAGGGACCTTGGAGAGCTCAGGATGGCTC
AGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGC
CGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGG
TAACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGC
ACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCT
GAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAAACCATCAGT


Protein Sequence     (SEQ ID NO:467):
MELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETL
AAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLVPVEDEHSTLLILGVLLTLRYLVPLLQQQ
VKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSIVELIGKLL
ASPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDIL
SHSSSQVSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLL
KNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESF
FSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAV
RNCVMSLCSSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAAS
LIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALC
LLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALG
DRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSF
YHLPSYLKLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDG
LSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVI
KALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMAS
GRKAVTHGNGTHLSLSMAQLPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTR
SDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGD
AALYQSLPTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCV
HFILEAVAVQPGEQLLSPERRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRV
PPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVL
SAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMS
YKLGQVSIHSVWLGNSITPLREEEWDEEEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLF
TERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLL
SNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHS
PHRAMAALGLMLTCMYTGKEKVSPGRTSDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQF
MATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRA
FQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC*



SNP Information


Context              (SEQ ID NO:4318):
CTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCT
Y
CGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAATCCTGCT
Celera SNP ID:                hCV1084101
SNP Position Transcript:      4109
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,25|T,13)  african american(C,37|T,1)  total(C,62|T,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1137,(L,CTC) (L,CTT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1940|T,1180) ; no_pop(C,-|T,-) ; no_pop(C,1904|T,624)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1137,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4319):
CACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAA
Y
ACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCC
Celera SNP ID:                hCV2231934
SNP Position Transcript:      6227
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1843,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1843,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4320):
CCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCC
K
CCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGG
Celera SNP ID:                hCV29509193
SNP Position Transcript:      455
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4321):
AGGTCAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGAC
S
TTACATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCC
Celera SNP ID:                hCV27837056
SNP Position Transcript:      1397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|G,36)  african american(C,1|G,31)  total(C,1|G,67)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 233,(T,ACG) (T,ACC)



Context              (SEQ ID NO:4322):
TCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACC
R
TTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCT
Celera SNP ID:                hCV25596720
SNP Position Transcript:      3498
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 934,(V,GTT) (I,ATT)



Context              (SEQ ID NO:4323):
CCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCT
M
AGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAG
Celera SNP ID:                hCV26934365
SNP Position Transcript:      6041
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1781,(L,CTC) (L,CTA)



Context              (SEQ ID NO:4324):
CGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTG
R
GGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGA
Celera SNP ID:                hCV31758132
SNP Position Transcript:      169
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4325):
CCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAC
R
CAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGC
Celera SNP ID:                hCV2229549
SNP Position Transcript:      425
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,92|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4326):
GCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTA
R
CAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGC
Celera SNP ID:                hCV16203024
SNP Position Transcript:      3825
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1043,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4327):
TGGTCGCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATA
Y
CACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTT
Celera SNP ID:                hCV2229303
SNP Position Transcript:      8243
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 2515,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:4328):
ATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGAC
Y
GCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAAGTTATTAGCAA
Celera SNP ID:                hCV7565570
SNP Position Transcript:      1502
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,2)  african american(C,29|T,5)  total(C,63|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 268,(T,ACC) (T,ACT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,30|T,4)  total(C,67|T,7)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 268,(T,ACC) (T,ACT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,604|T,8) ; no_pop(C,248|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 268,(T,ACC) (T,ACT)



Context              (SEQ ID NO:4329):
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCT
K
CCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGC
Celera SNP ID:                hCV2229548
SNP Position Transcript:      467
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4330):
ACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGC
M
GCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCAAGAAAGACCGTGTGAATCATTGT
Celera SNP ID:                hCV2229547
SNP Position Transcript:      523
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4331):
CTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCA
Y
GGAAAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATC
Celera SNP ID:                hCV25596713
SNP Position Transcript:      4087
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1130,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4332):
GCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAG
M
ACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTAT
Celera SNP ID:                hCV16201546
SNP Position Transcript:      4461
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,36|C,2)  total(A,76|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1255,(N,AAC) (H,CAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1255,(N,AAC) (H,CAC)



Context              (SEQ ID NO:4333):
AGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTGCT
R
CAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGG
Celera SNP ID:                hCV2231923
SNP Position Transcript:      6662
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2002|G,1162) ; no_pop(A,-|G,-) ; no_pop(A,1864|G,664)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1988,(L,CTA) (L,CTG)



Context              (SEQ ID NO:4334):
AGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGC
Y
GTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACG
Celera SNP ID:                hCV15851777
SNP Position Transcript:      7118
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,31|T,1)  total(C,71|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 2140,(A,GCC) (A,GCT)



Context              (SEQ ID NO:4335):
GCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCT
S
TTAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGG
Celera SNP ID:                hCV11690840
SNP Position Transcript:      1199
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,87|G,5) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 167,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4336):
CTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCT
R
GCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCA
Celera SNP ID:                hCV15756191
SNP Position Transcript:      1844
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1485|A,13) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 382,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4337):
TTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGA
R
CCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGG
Celera SNP ID:                hCV16665
SNP Position Transcript:      5456
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,6|G,18)  african american(A,0|G,32)  total(A,6|G,50)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1586,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,94|G,198) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1586,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4338):
AGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAA
R
TATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTC
Celera SNP ID:                hCV16201492
SNP Position Transcript:      5927
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 1743,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4339):
AGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACG
Y
AGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCT
Celera SNP ID:                hCV16201484
SNP Position Transcript:      6297
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:467, 1867,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4340):
CCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAG
R
GGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCT
Celera SNP ID:                hCV25596731
SNP Position Transcript:      2395
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,32)  total(A,1|G,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 566,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4341):
AAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTC
R
CAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAG
Celera SNP ID:                hCV25596740
SNP Position Transcript:      6881
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,34)  total(A,2|G,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 2061,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4342):
CGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
R
CACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCG
Celera SNP ID:                hCV29635883
SNP Position Transcript:      421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4343):
GATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAG
S
CAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTG
Celera SNP ID:                hCV7565544
SNP Position Transcript:      3652
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,124|G,3) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 985,(A,GCC) (G,GGC)



Context              (SEQ ID NO:4344):
CCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGC
R
TCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCA
Celera SNP ID:                hCV2231920
SNP Position Transcript:      7221
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2104|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,1536|A,540)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 2175,(V,GTC) (I,ATC)



Context              (SEQ ID NO:4345):
GTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTT
W
CCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGT
Celera SNP ID:                hCV16201450
SNP Position Transcript:      7772
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 2358,(F,TTT) (L,TTA)



Context              (SEQ ID NO:4346):
CTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGAT
K
TTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGG
Celera SNP ID:                hCV3266243
SNP Position Transcript:      3581
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,39)  african american(G,1|T,37)  total(G,2|T,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 961,(I,ATT) (M,ATG)

SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,892|G,28) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 961,(I,ATT) (M,ATG)



Context              (SEQ ID NO:4347):
GACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTG
S
TGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTT
Celera SNP ID:                hCV16201476
SNP Position Transcript:      6393
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1899,(V,GTG) (L,CTG)



Context              (SEQ ID NO:4348):
TTGCTGTGTGAGGCAGAACCTGCGGGGGC
R
GGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCG
Celera SNP ID:                hCV2480926
SNP Position Transcript:      30
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,9|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4349):
CTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCG
Y
CGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTAC
Celera SNP ID:                hCV2229550
SNP Position Transcript:      120
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4350):
TCAGTCCAGGAGACCTTGGCTGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCA
Y
AGCGAACCTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGT
Celera SNP ID:                hCV11690841
SNP Position Transcript:      1081
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 128,(I,ATA) (T,ACA)



Context              (SEQ ID NO:4351):
TTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGA
R
GGGCTCATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGT
Celera SNP ID:                hCV1084126
SNP Position Transcript:      2985
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 763,(G,GGG) (R,AGG)



Context              (SEQ ID NO:4352):
CTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGG
M
AGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCC
Celera SNP ID:                hCV16245625
SNP Position Transcript:      3808
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1037,(A,GCA) (E,GAA)



Context              (SEQ ID NO:4353):
CCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATC
Y
ACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGA
Celera SNP ID:                hCV2231945
SNP Position Transcript:      5790
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1866|C,1322) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,1
48|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1698,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4354):
CCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCT
R
ATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCC
Celera SNP ID:                hCV15882833
SNP Position Transcript:      7022
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1924|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,216|A,24)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:467, 2108,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4355):
CCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCA
K
CCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAG
Celera SNP ID:                hCV16201451
SNP Position Transcript:      7698
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 2334,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4356):
CCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCA
M
ATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGC
Celera SNP ID:                hCV7565389
SNP Position Transcript:      5202
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 1502,(D,GAT) (Y,TAT)



Context              (SEQ ID NO:4357):
AGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTG
V
ATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGC
Celera SNP ID:                hCV7565546
SNP Position Transcript:      3552
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,124|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:467, 952,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4358):
CCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATC
W
CTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGA
Celera SNP ID:                hCV25596739
SNP Position Transcript:      6974
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,4|T,34)  total(A,5|T,73)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4359):
CTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTG
Y
GCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGA
Celera SNP ID:                hCV2229302
SNP Position Transcript:      8353
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,38|T,0)  total(C,74|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,168|T,16) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4360):
GAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTT
R
CAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGG
Celera SNP ID:                hCV2229301
SNP Position Transcript:      8608
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,995|A,559) ; no_pop(G,11|A,3) ; no_pop(G,-|A,-) ; no_pop(G,94
0|A,316)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4361):
TGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGG
S
TGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTG
Celera SNP ID:                hCV2229300
SNP Position Transcript:      8656
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|G,22) ; no_pop(C,11|G,3) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4362):
TCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCT
S
TGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACA
Celera SNP ID:                hCV2229299
SNP Position Transcript:      8668
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4363):
AGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTG
R
TGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTT
Celera SNP ID:                hCV27831124
SNP Position Transcript:      8731
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4364):
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
Y
GCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAG
Celera SNP ID:                hCV27850702
SNP Position Transcript:      8748
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,38|T,0)  total(C,71|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4365):
AGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGC
M
TGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGAT
Celera SNP ID:                hCV2229298
SNP Position Transcript:      8780
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,31)  african american(A,14|C,20)  total(A,17|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,154|A,30) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4366):
TTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGG
R
TGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTA
Celera SNP ID:                hCV27831123
SNP Position Transcript:      8803
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4367):
GGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACC
Y
GGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAA
Celera SNP ID:                hCV2229297
SNP Position Transcript:      8815
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,172|T,12) ; no_pop(C,-|T,-) ; no_pop(C,206|T,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4368):
GGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCT
Y
TCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCT
Celera SNP ID:                hCV7565320
SNP Position Transcript:      9424
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,276) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4369):
GGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCT
Y
GGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTA
Celera SNP ID:                hCV2229296
SNP Position Transcript:      9428
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4370):
CTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACG
K
TGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGA
Celera SNP ID:                hCV16201443
SNP Position Transcript:      9516
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4371):
TGTTTGCAGGCCCAGAGGAGCCAAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGC
Y
GACTGGCTGTGAGACGAGGCAGGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGT
Celera SNP ID:                hCV2229295
SNP Position Transcript:      9726
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,888|T,486) ; no_pop(C,-|T,-) ; no_pop(C,840|T,272)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4372):
ATGTGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGC
K
GAGATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCAC
Celera SNP ID:                hCV2229294
SNP Position Transcript:      9945
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|G,1) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4373):
CCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAA
R
AAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAA
Celera SNP ID:                hCV15835207
SNP Position Transcript:      10392
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4374):
TTCCTTAGACCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGG
M
GAAGATGGTCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTT
Celera SNP ID:                hCV27837055
SNP Position Transcript:      10839
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,40)  african american(A,1|C,35)  total(A,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4375):
AATGTGCCTCCCTTCCGCTGCGGGCCCAGCTGAGTCTATGTAGGTGATGTTTCCAGCTGCCAAGTGCTCTTTGTTACTGTCCACCCTCATTTCTGCCAGC
R
CATGTGTCCTTTCAAGGGGAAAATGTGAAGCTGAACCCCCTCCAGACACCCAGAATGTAGCATCTGAGAAGGCCCTGTGCCCTAAAGGACACCCCTCGCC
Celera SNP ID:                hCV15955527
SNP Position Transcript:      11186
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1471|A,25) ; no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4376):
CCTCCTCTTGGAGCTGAGATGAGCCCCACGTGGAGCTCGGGACGGATAGTAGACAGCAATAACTCGGTGTGTGGCCGCCTGGCAGGTGGAACTTCCTCCC
R
TTGCGGGGTGGAGTGAGGTTAGTTCTGTGTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGC
Celera SNP ID:                hCV2229293
SNP Position Transcript:      11439
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,92|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4377):
GTGTCTGGTGGGTGGAGTCAGGCTTCTCTTGCTACCTGTGAGCATCCTTCCCAGCAGACATCCTCATCGGGCTTTGTCCCTCCCCCGCTTCCTCCCTCTG
Y
GGGGAGGACCCGGGACCACAGCTGCTGGCCAGGGTAGACTTGGAGCTGTCCTCCAGAGGGGTCACGTGTAGGAGTGAGAAGAAGGAAGATCTTGAGAGCT
Celera SNP ID:                hCV2480534
SNP Position Transcript:      11568
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,13|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4378):
GGACCTTGGAGAGCTCAGGATGGCTCAGACGAGGACACTCGCTTGCCGGGCCTGGGCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACT
R
AAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTCTGGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCA
Celera SNP ID:                hCV25938831
SNP Position Transcript:      11775
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4379):
GCCTCCTGGGAAGGAGGGAGCTGCTCAGAATGCCGCATGACAACTGAAGGCAACCTGGAAGGTTCAGGGGCCGCTCTTCCCCCATGTGCCTGTCACGCTC
W
GGTGCAGTCAAAGGAACGCCTTCCCCTCAGTTGTTTCTAAGAGCAGAGTCTCCCGCTGCAATCTGGGTGGTAACTGCCAGCCTTGGAGGATCGTGGCCAA
Celera SNP ID:                hCV25938509
SNP Position Transcript:      11830
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|T,32)  african american(A,2|T,36)  total(A,2|T,68)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4380):
ACTGCCAGCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCAC
R
GTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAG
Celera SNP ID:                hCV25938014
SNP Position Transcript:      12003
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4381):
GCCTTGGAGGATCGTGGCCAACGTGGACCTGCCTACGGAGGGTGGGCTCTGACCCAAGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTC
R
GAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAG
Celera SNP ID:                hCV7565316
SNP Position Transcript:      12010
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,37|G,1)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Context              (SEQ ID NO:4382):
ACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCT
R
AATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAA
Celera SNP ID:                hCV7565312
SNP Position Transcript:      12091
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:467, None



Gene Number:                  86
Celera Gene:                  hCG1984846 - 120000094638946
Celera Transcript:            hCT2259417 - 120000094639207
Public Transcript Accession:
Celera Protein:               hCP1865469 - 197000069388603
Public Protein Accession:
Gene Symbol:                  HD
Protein Name:                  huntingtin (Huntington disease)
Celera Genomic Axis:          GA_x5YUV32W0YB(5881949..6063676)
Chromosome:                   4
OMIM NUMBER:                  143100
OMIM Information:             Huntington disease (3)


Transcript Sequence  (SEQ ID NO:207):
TTGCTGTGTGAGGCAGAACCTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGG
CGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGC
CGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGAGTCGGCCCGAGGCCTCCGGGGACTGCCGTGC
CGGGCGGGAGACCGCCATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG
CAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTG
CCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCA
AGAAAGACCGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAGTCTGTCAGAAATTCTCCAGAATTTCAGAAACTTCTGGGCATCGCTAT
GGAACTTTTTCTGCTGTGCAGTGATGACGCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTGATGGATTCTAAT
CTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGTGCCCCTCGGAGTTTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACC
TGGTTCGGCCTCAGAAATGCAGGCCTTACCTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAGAGACCCGAAGAATCAGTCCAGGAGACCTTGGC
TGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCATAGCGAACCTGAAGTCAAGC
TCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCT
TAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGGT
CAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGACGTTA
CATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGA
CCGCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAACTGGAGGGG
GTTCCTCATGCAGCCCTGTCCTTTCAAGAAAACAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGATCGGATGT
CAGCAGCTCTGCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTGGCTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATC
ATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGG
ATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCATGGACCTGAATGATGGGACCCAGGCCTCGTCGCCCATCAGCGACAG
CTCCCAGACCACCACCGAAGGGCCTGATTCAGCTGTTACCCCTTCAGACAGTTCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAG
ATTGGACAGCCCCAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGGAACTCTTCCATGGCCCTTCAACAGGCAC
ATTTATTGAAAAACATGAGTCACTGCAGGCAGCCTTCTGACAGCAGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGATCAAGAAAA
CAAGCCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTA
ACAGGGGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGG
AATCTTTCTTCAGCAAACTCTATAAAGTTCCTCTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATCGATCATGGAGA
CCCACAGGTTCGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCCATCCTCAGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATT
AGAACCCTCACAGGAAATACATTTTCTTTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAGTCTTCTGTTACTTGCAAGTTAGCTTGTA
CAGCTGTGAGGAACTGTGTCATGAGTCTCTGCAGCAGCAGCTACAGTGAGTTAGGACTGCAGCTGATCATCGATGTGCTGACTCTGAGGAACAGTTCCTA
TTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCT
CATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGTTGCCG
CAGCATCACTAATTAGGCTTGTCCCAAAGCTGTTTTATAAATGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGCAGTGTTTA
CCTGAAACTTCTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGCACAATAACCAGAATATATAGAGGCTATAACCTACTACCAAGCATAACA
GACGTCACTATGGAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCTCATGAACTAATCACATCAACCACCAGAGCACTCACATTTGGATGCTGTGAAG
CTTTGTGTCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAG
CTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGA
AACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAG
CCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCC
TGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCA
TCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGTCCTGTTACAACAAGTAAATCCTCATCACTGG
GGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGA
AAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTA
GGATACCTGAAATCCTGCTTTAGTCGAGAACCAATGATGGCAACTGTTTGTGTTCAACAATTGTTGAAGACTCTCTTTGGCACAAACTTGGCCTCCCAGT
TTGATGGCTTATCTTCCAACCCCAGCAAGTCACAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTACCACTACTGCTTCATGGC
CCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTC
CAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATTCATAATCACATTCGTTTGTTTGAACCTC
TTGTTATAAAAGCTTTAAAACAGTACACGACTACAACATGTGTGCAGTTACAGAAGCAGGTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTACGGGTTAA
TTACTGTCTTCTGGATTCAGATCAGGTGTTTATTGGCTTTGTATTGAAACAGTTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATCATT
CCAAACATCTTTTTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGAATTCCTAAAATCATTCAGCTCTGTGATGGCATCA
TGGCCAGTGGAAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAACAAATAAAGCTGATGCAGG
AAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTCATTCTTGTCCTGCAGCAG
TGCCACAAGGAGAATGAAGACAAGTGGAAGCGACTGTCTCGACAGATAGCTGACATCATCCTCCCAATGTTAGCCAAACAGCAGATGCACATTGACTCTC
ATGAAGCCCTTGGAGTGTTAAATACATTATTTGAGATTTTGGCCCCTTCCTCCCTCCGTCCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAA
CACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGAGGGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCT
CGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTG
AAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAA
GGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACACTGCTAATGTGTCTGATCCACATCTTCAAGTCTGGAATGTTCCGGAGA
ATCACAGCAGCTGCCACTAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCA
CCCACCCGGCCCTGGTGCTGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACA
CAGTCTGTCCAGCACAAAGTTACTTAGTCCCCAGATGTCTGGAGAAGAGGAGGATTCTGACTTGGCAGCCAAACTTGGAATGTGCAATAGAGAAATAGTA
CGAAGAGGGGCTCTCATTCTCTTCTGTGATTATGTCTGTCAGAACCTCCATGACTCCGAGCACTTAACGTGGCTCATTGTAAATCACATTCAAGATCTGA
TCAGCCTTTCCCACGAGCCTCCAGTACAGGACTTCATCAGTGCCGTTCATCGGAACTCTGCTGCCAGCGGCCTGTTCATCCAGGCAATTCAGTCTCGTTG
TGAAAACCTTTCAACTCCAACCATGCTGAAGAAAACTCTTCAGTGCTTGGAGGGGATCCATCTCAGCCAGTCGGGAGCTGTGCTCACGCTGTATGTGGAC
AGGCTTCTGTGCACCCCTTTCCGTGTGCTGGCTCGCATGGTCGACATCCTTGCTTGTCGCCGGGTAGAAATGCTTCTGGCTGCAAATTTACAGAGCAGCA
TGGCCCAGTTGCCAATGGAAGAACTCAACAGAATCCAGGAATACCTTCAGAGCAGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTGCTGGACAG
GTTTCGTCTCTCCACCATGCAAGACTCACTTAGTCCCTCTCCTCCAGTCTCTTCCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGT
CCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCAGATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTG
CTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGTGGCCAGAA
GAGTGCCCTTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTG
CCTGCAGAGCCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGT
ACCTGGTGGTGGTCTCCAAACTGCCCAGTCATTTGCACCTTCCTCCTGAGAAAGAGAAGGACATTGTGAAATTCGTGGTGGCAACCCTTGAGGCCCTGTC
CTGGCATTTGATCCATGAGCAGATCCCGCTGAGTCTGGATCTCCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTG
GTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTA
GTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAAGTATATCACTGCAGCCTGTGA
GATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCTCAGGAAC
ATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAGGGGATT
TTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCG
TACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAG
AGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGG
AGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTTTGGGAGGAAGCTGAGCATTATCAGAGGGATTGTGGAGCAAGAGATTCAAGCAAT
GGTTTCAAAGAGAGAGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCAC
GAGAAGCTGCTGCTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCA
TCACACCCCTGAGGGAGGAGGAATGGGACGAGGAAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAA
ACACCGGGCTGGAGTTGACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCC
ATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGC
GAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCCGTGGCGGA
GCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTG
CTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCACTGCGTGAACATTCACAGCCAGCAGC
ACGTACTGGTCATGTGTGCCACTGCGTTTTACCTCATTGAGAACTATCCTCTGGACGTAGGGCCGGAATTTTCAGCATCAATAATACAGATGTGTGGGGT
GATGCTGTCTGGAAGTGAGGAGTCCACCCCCTCCATCATTTACCACTGTGCCCTCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTG
GATGCAGAATCGCTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACA
CAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCT
TTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATG
AACAAAGTCATCGGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTCATGGCCACCGTGGTGTATAAGGTGTTTCAGACTCTGCACAGCACCGGGC
AGTCGTCCATGGTCCGGGACTGGGTCATGCTGTCCCTCTCCAACTTCACGCAGAGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCCTGCTTCTTTGT
CAGCGCGTCCACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGCAGGATGGGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTC
GCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATATCACC
GGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAA
GTCTGCGCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGT
GGCAGAAGTGCTCTTTGTGGCAGTGGCCAGGCAGGGAGTGTCTGCAGTCCTGGTGGGGCTGAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGC
ACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTG
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
CGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCA
GGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAAGTATGTGAATCGCAAGGCCTGTGCTGCATGCG
ACAGCGTCCGGGGTGGTGGACAGGGCCCCCGGCCACGCTCCCTCTCCTGTAGCCACTGGCATAGCCCTCCTGAGCACCCGCTGACATTTCCGTTGTACAT
GTTCCTGTTTATGCATTCACAAGGTGACTGGGATGTAGAGAGGCGTTAGTGGGCAGGTGGCCACAGCAGGACTGAGGACAGGCCCCCATTATCCTAGGGG
TGCGCTCACCTGCAGCCCCTCCTCCTCGGGCACAGACGACTGTCGTTCTCCACCCACCAGTCAGGGACAGCAGCCTCCCTGTCACTCAGCTGAGAAGGCC
AGCCCTCCCTGGCTGTGAGCAGCCTCCACTGTGTCCAGAGACATGGGCCTCCCACTCCTGTTCCTTGCTAGCCCTGGGGTGGCGTCTGCCTAGGAGCTGG
CTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCTCGGTCAACAGCAAAGCTTGG
TGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTAGTCAGGAGAGTGCAGATCT
GTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGACCAGCCTCCTGTTTGCAGGCCCAGAGGAGCC
AAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGCCGACTGGCTGTGAGACGAGGCA
GGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGTCGATGTTTTGGGTATTGAATG
TGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGCTGA
GATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCACCA
GCTCCCAACAGAGGCCTCCCCCAGCCAGGACCACCTCGTCCTCGTGGCGGGGCAGCAGGAGCGGTAGAAAGGGGTCCGATGTTTGAGGAGGCCCTTAAGG
GAAGCTACTGAATTATAACACGTAAGAAAATCACCATTCTTCCGTATTGGTTGGGGGCTCCTGTTTCTCATCCTAGCTTTTTCCTGGAAAGCCCGCTAGA
AGGTTTGGGAACGAGGGGAAAGTTCTCAGAACTGTTGGCTGCTCCCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTA
TCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAAGAAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGG
CTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAACCAGTCCTTAGCAAGGGGCTCAGAACACCCCGCTCTGGCAGTAGGTGTCCCCCAC
CCCCAAAGACCTGCCTGTGTGCTCCGGAGATGAATATGAGCTCATTAGTAAAAATGACTTCACCCACGCATATACATAAAGTATCCATGCATGTGCATAT
AGACACATCTATAATTTTACACACACACCTCTCAAGACGGAGATGCATGGCCTCTAAGAGTGCCCGTGTCGGTTCTTCCTGGAAGTTGACTTTCCTTAGA
CCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGGCGAAGATGG
TCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTTGCAAATGT
GATTAATTTGGTTGTCAAGTTTTGGGGGTGGGCTGTGGGGAGATTGCTTTTGTTTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGTGGGG
CCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCC
GGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAA
TTAAAGGAAAAAAATGGAAACCATCAGT


Protein Sequence     (SEQ ID NO:468):
MDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVD
KFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYP
EEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSSSYSEL
GLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQG
QADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGW
HCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQLFSHL
LKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKA
THANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQGRAQRL
GSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTCVQLQ
KQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPI
VHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSS
LRPVDMLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETFSRFLL
QLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNH
TDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHR
NSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQEYLQS
SGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLL
APCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLHLPPEK
EKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAISEEEEE
VDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEV
FKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGR
KLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEEEEEAD
APAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPA
TCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPL
DVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSDPNPAA
PDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQ
RAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC*



SNP Information


Context              (SEQ ID NO:4383):
CTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCT
Y
CGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAATCCTGCT
Celera SNP ID:                hCV1084101
SNP Position Transcript:      4119
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,25|T,13)  african american(C,37|T,1)  total(C,62|T,14)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 722,(L,CTC) (L,CTT)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1940|T,1180) ; no_pop(C,-|T,-) ; no_pop(C,1904|T,624)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 722,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4384):
CAGCTCTGTGATGGCATCATGGCCAGTGGAAGGAAGGCTGTGACACATGCCATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAA
Y
AAATAAAGCTGATGCAGGAAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTCATCCAGTACCATCAGGTGTTGGAGATGTTC
Celera SNP ID:                hCV2231793
SNP Position Transcript:      4982
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,63|T,29) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1010,(T,ACA) (I,ATA)



Context              (SEQ ID NO:4385):
CACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAGTTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAA
Y
ACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCC
Celera SNP ID:                hCV2231934
SNP Position Transcript:      7680
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1909,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1909,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4386):
CCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCC
K
CCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGG
Celera SNP ID:                hCV29509193
SNP Position Transcript:      455
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4387):
AGGTCAAGGACACAAGCCTGAAAGGCAGCTTCGGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTATGAACTGAC
S
TTACATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCC
Celera SNP ID:                hCV27837056
SNP Position Transcript:      1397
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|G,36)  african american(C,1|G,31)  total(C,1|G,67)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4388):
TCTTCTTTCCACTGCCTTCCCAGTTTGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACC
R
TTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCT
Celera SNP ID:                hCV25596720
SNP Position Transcript:      3508
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 519,(V,GTT) (I,ATT)



Context              (SEQ ID NO:4389):
TAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTGAACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGCCCTGGTG
Y
TGCTCTGGTGTCAGATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCGAAAAGACACAGTCTGTCCAGCACAAA
Celera SNP ID:                hCV26934367
SNP Position Transcript:      5818
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1289,(L,CTG) (L,TTG)



Context              (SEQ ID NO:4390):
CCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCT
M
AGGAACATCATCATCAGCCTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTTGGATGGTCACCCAAACCGGGAG
Celera SNP ID:                hCV26934365
SNP Position Transcript:      7494
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1847,(L,CTC) (L,CTA)



Context              (SEQ ID NO:4391):
CGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTG
R
GGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTACCTGCGGCCCAGAGCCCCATTCATTGCCCCGGTGCTGAGCGGCGCCGCGA
Celera SNP ID:                hCV31758132
SNP Position Transcript:      169
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4392):
CCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAC
R
CAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGC
Celera SNP ID:                hCV2229549
SNP Position Transcript:      425
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,92|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4393):
GCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTA
R
CAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCCAAGAAAGGCAGTGAGGC
Celera SNP ID:                hCV16203024
SNP Position Transcript:      3835
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 628,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4394):
TGGTCGCCACAGACTTCTACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTGGTTGCAGCCCCAGGAAGCCCATA
Y
CACCGGCTGCTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTT
Celera SNP ID:                hCV2229303
SNP Position Transcript:      9696
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 2581,(Y,TAT) (Y,TAC)



Context              (SEQ ID NO:4395):
ATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAGCTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGAC
Y
GCAGTCGGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGGAGTATTGTGGAACTTATAGGCAACTGGAGGGGGT
Celera SNP ID:                hCV7565570
SNP Position Transcript:      1502
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|T,2)  african american(C,29|T,5)  total(C,63|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,30|T,4)  total(C,67|T,7)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,604|T,8) ; no_pop(C,248|T,6)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4396):
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCT
K
CCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGC
Celera SNP ID:                hCV2229548
SNP Position Transcript:      467
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4397):
ACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGC
M
GCCGCCCCCGCCGCCACCCGGCCCGGCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCAAGAAAGACCGTGTGAATCATTGT
Celera SNP ID:                hCV2229547
SNP Position Transcript:      523
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4398):
CTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAACTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAACAGCA
Y
GGAAAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTAGAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATC
Celera SNP ID:                hCV25596713
SNP Position Transcript:      4097
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 715,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4399):
GCCAGGCTTGTACCACTACTGCTTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATGGTGCAGGCGGAGCAGGAG
M
ACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCTACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTAT
Celera SNP ID:                hCV16201546
SNP Position Transcript:      4471
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,36|C,2)  total(A,76|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 840,(N,AAC) (H,CAC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 840,(N,AAC) (H,CAC)



Context              (SEQ ID NO:4400):
AGAATATTGCCACCCATCATTTATATCAGGCATGGGATCCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTGCT
R
CAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCCATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGG
Celera SNP ID:                hCV2231923
SNP Position Transcript:      8115
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,2002|G,1162) ; no_pop(A,-|G,-) ; no_pop(A,1864|G,664)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 2054,(L,CTA) (L,CTG)



Context              (SEQ ID NO:4401):
AGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGC
Y
GTCCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACG
Celera SNP ID:                hCV15851777
SNP Position Transcript:      8571
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,31|T,1)  total(C,71|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 2206,(A,GCC) (A,GCT)



Context              (SEQ ID NO:4402):
GCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCT
S
TTAGGCTTACTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTGAGGTATTTGGTGCCCTTGCTGCAGCAGCAGG
Celera SNP ID:                hCV11690840
SNP Position Transcript:      1199
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,87|G,5) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4403):
CTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAGCCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCT
R
GCCAGCTGTGACTTGACAAGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAGCCACAGCTCCAGCCAGGTCAGCGCCGTCCCATCTGACCCTGCCA
Celera SNP ID:                hCV15756191
SNP Position Transcript:      1854
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1485|A,13) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4404):
TTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGCACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGA
R
CCGGCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTGCCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGG
Celera SNP ID:                hCV16665
SNP Position Transcript:      6909
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,6|G,18)  african american(A,0|G,32)  total(A,6|G,50)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1652,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,94|G,198) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1652,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4405):
AGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAA
R
TATATCACTGCAGCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCATAAAAGGAATAGCGGCGTGCCGGCGTTTC
Celera SNP ID:                hCV16201492
SNP Position Transcript:      7380
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 1809,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4406):
AGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGGACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACG
Y
AGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCT
Celera SNP ID:                hCV16201484
SNP Position Transcript:      7750
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:468, 1933,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4407):
CCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCTGCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAG
R
GGGAAAAAATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGTGTGGGAGCAGCTGTGGCCCTCCACCCGGAATCT
Celera SNP ID:                hCV25596731
SNP Position Transcript:      2405
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,39)  african american(A,0|G,32)  total(A,1|G,71)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 151,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4408):
AAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAACTCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTC
R
CAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAG
Celera SNP ID:                hCV25596740
SNP Position Transcript:      8334
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,2|G,34)  total(A,2|G,74)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 2127,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4409):
CGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
R
CACACAGCCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCACAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCG
Celera SNP ID:                hCV29635883
SNP Position Transcript:      421
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4410):
GATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAG
S
CAACCCAGCAGCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTG
Celera SNP ID:                hCV7565544
SNP Position Transcript:      3662
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,124|G,3) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 570,(A,GCC) (G,GGC)



Context              (SEQ ID NO:4411):
CCGGTAGACATGCTTTTACGGAGTATGTTCGTCACTCCAAACACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCCATTTTGA
R
GGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTA
Celera SNP ID:                hCV25596702
SNP Position Transcript:      5360
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1136,(R,AGG) (K,AAG)



Context              (SEQ ID NO:4412):
TCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAGCTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGACAGTA
M
TTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAA
Celera SNP ID:                hCV2231788
SNP Position Transcript:      5477
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,4|C,28)  african american(A,13|C,23)  total(A,17|C,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1175,(T,ACT) (N,AAT)

SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1175,(T,ACT) (N,AAT)



Context              (SEQ ID NO:4413):
CCTTGGGATGGACAAGGCCGTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGCAGGGTTGGAGCCCTGCACGGC
R
TCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACTGCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCCCA
Celera SNP ID:                hCV2231920
SNP Position Transcript:      8674
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,2104|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,1536|A,540)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 2241,(V,GTC) (I,ATC)



Context              (SEQ ID NO:4414):
GTAGAACTTCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTT
W
CCTTGTGAAGCCAGAGTGGTGGCCAGGATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATCGGAGAGTTTCTGT
Celera SNP ID:                hCV16201450
SNP Position Transcript:      9225
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|T,-) ; no_pop(A,-|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 2424,(F,TTT) (L,TTA)



Context              (SEQ ID NO:4415):
AATAGGTTAAGAGATGGGGACAGTACTTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAAACATTTTCAAGGTTTCTAT
W
ACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAACAGCTGAAGGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACA
Celera SNP ID:                hCV25596700
SNP Position Transcript:      5552
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,0|T,38)  total(A,1|T,77)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:468, 1200,(L,TTA) (*,TAA)



Context              (SEQ ID NO:4416):
CTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGAT
K
TTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCAGCCACCAAGCAAGAGGAGG
Celera SNP ID:                hCV3266243
SNP Position Transcript:      3591
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,39)  african american(G,1|T,37)  total(G,2|T,76)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 546,(I,ATT) (M,ATG)

SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,892|G,28) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 546,(I,ATT) (M,ATG)



Context              (SEQ ID NO:4417):
GACGCAGCCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATCAACGTCCTGGCCGTGCAGGCCATCACCTCACTG
S
TGCTCAGTGCAATGACTGTGCCTGTGGCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCTCTCGACACCAGGTT
Celera SNP ID:                hCV16201476
SNP Position Transcript:      7846
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1965,(V,GTG) (L,CTG)



Context              (SEQ ID NO:4418):
TTGCTGTGTGAGGCAGAACCTGCGGGGGC
R
GGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCGGCGCGGCCCCG
Celera SNP ID:                hCV2480926
SNP Position Transcript:      30
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,9|G,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4419):
CTGCGGGGGCAGGGGCGGGCTGGTTCCCTGGCCAGCCATTGGCAGAGTCCGCAGGCTAGGGCTGTCAATCATGCTGGCCGGCGTGGCCCCGCCTCCGCCG
Y
CGCGGCCCCGCCTCCGCCGGCGCAGCGTCTGGGACGCAAGGCGCCGTGGGGGCTGCCGGGACGGGTCCAAGATGGACGGCCGCTCAGGTTCTGCTTTTAC
Celera SNP ID:                hCV2229550
SNP Position Transcript:      120
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4420):
TCAGTCCAGGAGACCTTGGCTGCAGCTGTTCCCAAAATTATGGCTTCTTTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCA
Y
AGCGAACCTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGCCAGCACTCAAGAAGGACACAATATTTCTATAGT
Celera SNP ID:                hCV11690841
SNP Position Transcript:      1081
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,92|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4421):
TTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGGCTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGA
R
GGGCTCATCATTATACAGGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGATGAAGACCCCAGGGTGCGACATGT
Celera SNP ID:                hCV1084126
SNP Position Transcript:      2995
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 348,(G,GGG) (R,AGG)



Context              (SEQ ID NO:4422):
CTGGTGCCCATGGTGGAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGACGTGGCTCCTGGACCCGCAATAAAGG
M
AGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTAAGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTGAGTCCC
Celera SNP ID:                hCV16245625
SNP Position Transcript:      3818
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 622,(A,GCA) (E,GAA)



Context              (SEQ ID NO:4423):
CCAGGCAGGGCTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACAGAGTTTGTGACCCACGCCTGCTCCCTCATC
Y
ACTGTGTGCACTTCATCCTGGAGGCCGTTGCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCCATCAGCGAGGA
Celera SNP ID:                hCV2231945
SNP Position Transcript:      7243
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,1866|C,1322) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,1
48|C,92)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1764,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4424):
CCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCT
R
ATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTCGCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCC
Celera SNP ID:                hCV15882833
SNP Position Transcript:      8475
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,1924|A,1056) ; no_pop(G,-|A,-) ; no_pop(G,216|A,24)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:468, 2174,(L,CTG) (L,CTA)



Context              (SEQ ID NO:4425):
CCCGCACCGGGCCATGGCGGCTCTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACTTCAGACCCTAATCCTGCA
K
CCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTATCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAG
Celera SNP ID:                hCV16201451
SNP Position Transcript:      9151
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 2400,(A,GCC) (S,TCC)



Context              (SEQ ID NO:4426):
CCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGACTGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCA
M
ATTCTGCACTGCTGGAAGGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCGGAGTTCAACCTAAGCCTGCTAGC
Celera SNP ID:                hCV7565389
SNP Position Transcript:      6655
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 1568,(D,GAT) (Y,TAT)



Context              (SEQ ID NO:4427):
AGTGCCTCCACTGAGTGCCTCAGATGAGTCTAGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGGTTCCCATTG
V
ATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCAGCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGC
Celera SNP ID:                hCV7565546
SNP Position Transcript:      3562
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,124|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:468, 537,(D,GAT) (N,AAT)



Context              (SEQ ID NO:4428):
CCTGTTCGCAGTTTTTGCTTGAGTTGTACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGTGAGGTGGTCAGATC
W
CTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAGCTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGA
Celera SNP ID:                hCV25596739
SNP Position Transcript:      8427
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|T,39)  african american(A,4|T,34)  total(A,5|T,73)
SNP Type:                     Donor splice site
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4429):
CTGACTTGTTTACGAAATGTCCACAAGGTCACCACCTGCTGAGCGCCATGGTGGGAGAGACTGTGAGGCGGCAGCTGGGGCCGGAGCCTTTGGAAGTCTG
Y
GCCCTTGTGCCCTGCCTCCACCGAGCCAGCTTGGTCCCTATGGGCTTCCGCACATGCCGCGGGCGGCCAGGCAACGTGCGTGTCTCTGCCATGTGGCAGA
Celera SNP ID:                hCV2229302
SNP Position Transcript:      9806
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,4)  african american(C,38|T,0)  total(C,74|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,168|T,16) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4430):
GAGCCTGAGGCCTTCCAGAAAGCAGGAGCAGCTGTGCTGCACCCCATGTGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTT
R
CAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGG
Celera SNP ID:                hCV2229301
SNP Position Transcript:      10061
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,995|A,559) ; no_pop(G,11|A,3) ; no_pop(G,-|A,-) ; no_pop(G,94
0|A,316)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4431):
TGGGTGACCAGGTCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGG
S
TGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTG
Celera SNP ID:                hCV2229300
SNP Position Transcript:      10109
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,70|G,22) ; no_pop(C,11|G,3) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4432):
TCCTTTCTCCTGATAGTCACCTGCTGGTTGTTGCCAGGTTGCAGCTGCTCTTGCATCTGGGCCAGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCT
S
TGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACA
Celera SNP ID:                hCV2229299
SNP Position Transcript:      10121
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4433):
AGAAGTCCTCCCTCCTGCAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTG
R
TGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTT
Celera SNP ID:                hCV27831124
SNP Position Transcript:      10184
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,34)  african american(A,1|G,37)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4434):
CAGGCTGGCTGTTGGCCCCTCTGCTGTCCTGCAGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCA
Y
GCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAG
Celera SNP ID:                hCV27850702
SNP Position Transcript:      10201
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,38|T,0)  total(C,71|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4435):
AGTAGAAGGTGCCGTGAGCAGGCTTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGC
M
TGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGAT
Celera SNP ID:                hCV2229298
SNP Position Transcript:      10233
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,3|C,31)  african american(A,14|C,20)  total(A,17|C,51)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,154|A,30) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4436):
TTTGGGAACACTGGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGG
R
TGCTAGACACCCGGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTA
Celera SNP ID:                hCV27831123
SNP Position Transcript:      10256
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,1|G,33)  african american(A,0|G,38)  total(A,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4437):
GGCCTGGGTCTCCCTGGTGGGGTGTGCATGCCACGCCCCGTGTCTGGATGCACAGATGCCATGGCCTGTGCTGGGCCAGTGGCTGGGGGTGCTAGACACC
Y
GGCACCATTCTCCCTTCTCTCTTTTCTTCTCAGGATTTAAAATTTAATTATATCAGTAAAGAGATTAATTTTAACGTAACTCTTTCTATGCCCGTGTAAA
Celera SNP ID:                hCV2229297
SNP Position Transcript:      10268
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,172|T,12) ; no_pop(C,-|T,-) ; no_pop(C,206|T,34)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4438):
GGGTGGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCT
Y
TCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCT
Celera SNP ID:                hCV7565320
SNP Position Transcript:      10877
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,276) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4439):
GGCGTCTGCCTAGGAGCTGGCTGGCAGGTGTTGGGACCTGCTGCTCCATGGATGCATGCCCTAAGAGTGTCACTGAGCTGTGTTTTGTCTGAGCCTCTCT
Y
GGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACGGTGACCCCTTTTA
Celera SNP ID:                hCV2229296
SNP Position Transcript:      10881
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4440):
CTGAGCCTCTCTCGGTCAACAGCAAAGCTTGGTGTCTTGGCACTGTTAGTGACAGAGCCCAGCATCCCTTCTGCCCCCGTTCCAGCTGACATCTTGCACG
K
TGACCCCTTTTAGTCAGGAGAGTGCAGATCTGTGCTCATCGGAGACTGCCCCACGGCCCTGTCAGAGCCGCCACTCCTATCCCCAGGCCAGGTCCCTGGA
Celera SNP ID:                hCV16201443
SNP Position Transcript:      10969
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4441):
TGTTTGCAGGCCCAGAGGAGCCAAGTCATTAAAATGGAAGTGGATTCTGGATGGCCGGGCTGCTGCTGATGTAGGAGCTGGATTTGGGAGCTCTGCTTGC
Y
GACTGGCTGTGAGACGAGGCAGGGGCTCTGCTTCCTCAGCCCTAGAGGCGAGCCAGGCAAGGTTGGCGACTGTCATGTGGCTTGGTTTGGTCATGCCCGT
Celera SNP ID:                hCV2229295
SNP Position Transcript:      11179
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,888|T,486) ; no_pop(C,-|T,-) ; no_pop(C,840|T,272)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4442):
ATGTGGTAAGTGGAGGAAATGTTGGAACTCTGTGCAGGTGCTGCCTTGAGACCCCCAAGCTTCCACCTGTCCCTCTCCTATGTGGCAGCTGGGGAGCAGC
K
GAGATGTGGACTTGTATGCTGCCCACATACGTGAGGGGGAGCTGAAAGGGAGCCCCTCCTCTGAGCAGCCTCTGCCAGGCCTGTATGAGGCTTTTCCCAC
Celera SNP ID:                hCV2229294
SNP Position Transcript:      11398
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,91|G,1) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4443):
CCCACCCGCCTCCCGCCTCCCCCGCAGGTTATGTCAGCAGCTCTGAGACAGCAGTATCACAGGCCAGATGTTGTTCCTGGCTAGATGTTTACATTTGTAA
R
AAATAACACTGTGAATGTAAAACAGAGCCATTCCCTTGGAATGCATATCGCTGGGCTCAACATAGAGTTTGTCTTCCTCTTGTTTACGACGTGATCTAAA
Celera SNP ID:                hCV15835207
SNP Position Transcript:      11845
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4444):
TTCCTTAGACCCGCCAGGTCAAGTTAGCCGCGTGACGGACATCCAGGCGTGGGACGTGGTCAGGGCAGGGCTCATTCATTGCCCACTAGGATCCCACTGG
M
GAAGATGGTCTCCATATCAGCTCTCTGCAGAAGGGAGGAAGACTTTATCATGTTCCTAAAAATCTGTGGCAAGCACCCATCGTATTATCCAAATTTTGTT
Celera SNP ID:                hCV27837055
SNP Position Transcript:      12292
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|C,40)  african american(A,1|C,35)  total(A,1|C,75)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4445):
GGCTGTGGGGAGATTGCTTTTGTTTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCAC
R
GTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAG
Celera SNP ID:                hCV25938014
SNP Position Transcript:      12531
SNP Source:                   HapMap
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4446):
GGGAGATTGCTTTTGTTTTCCTGCTGGTAATATCGGGAAAGATTTTAATGAAACCAGGTGGGGCCTCCTTGTCCAGGTCTCACTGCTTTGCACCGTGGTC
R
GAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCTGAATGCTTCTGAGAGCAAAG
Celera SNP ID:                hCV7565316
SNP Position Transcript:      12538
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,38|G,0)  african american(A,37|G,1)  total(A,75|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Context              (SEQ ID NO:4447):
ACTGCTTTGCACCGTGGTCAGAGGGACTGTCAGCTGAGCTTGAGCTCCCCTGGAGCCAGCAGGGCTGTGATGGGCGAGTCCCGGAGCCCCACCCAGACCT
R
AATGCTTCTGAGAGCAAAGGGAAGGACTGACGAGAGATGTATATTTAATTTTTTAACTGCTGCAAACATTGTACATCCAAATTAAAGGAAAAAAATGGAA
Celera SNP ID:                hCV7565312
SNP Position Transcript:      12619
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:468, None



Gene Number:                  87
Celera Gene:                  hCG1984906 - 67000129032891
Celera Transcript:            hCT2259509 - 67000129032892
Public Transcript Accession:  NM_000418
Celera Protein:               hCP1850885 - 197000069354019
Public Protein Accession:     NP_000409
Gene Symbol:                  IL4R
Protein Name:                  interleukin 4 receptor
Celera Genomic Axis:          GA_x5YUV32VTB5(953618..1000814)
Chromosome:                   16
OMIM NUMBER:                  147781
OMIM Information:             {Atopy, susceptibility to} (3)


Transcript Sequence  (SEQ ID NO:208):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAAATCTAGGGAAGTTGAAAAC
ATTTTGCAGTCAAAGCTATCTTTGCTATCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTAGAGATAGTGATAAGTACT
GGGACAGACATAAACAGGGTGCTGTGATAAGAAGTCACAGGGAGGGCCCGCATTAGTTGAGGGGGGTCAGAGAAGGCTTCTGAAGTGTTTCTGGTGCAAA
TGCTTGGAAAAGGGAGAGCTGGGAGTGTATCCCAGGGCTGAGGCCAATGGAGGATTGCAGAAGAGGGAGAGGGGATAGGAGGGGAATGTTAGAGGGATAA
GCAGGGGAATTGGCTCTTTTCTTCATTTTCTTAAATTAAACTTTTTATTTTCAGATAATTAAAGATTTACACACAGCTGGAAGAAATCATAGAGAAGCCG
GGCGTGGTGGCTCATGCCTATAATCCCAGCACTTTTGGAGGCTGAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGTGCCTTGGCATC
TCCCAATGGGGTGGCTTTGCTCTGGGCTCCTGTTCCCTGTGAGCTGCCTGGTCCTGCTGCAGGTGGCAAGCTCTGGGAACATGAAGGTCTTGCAGGAGCC
CACCTGCGTCTCCGACTACATGAGCATCTCTACTTGCGAGTGGAAGATGAATGGTCCCACCAATTGCAGCACCGAGCTCCGCCTGTTGTACCAGCTGGTT
TTTCTGCTCTCCGAAGCCCACACGTGTGTCCCTGAGAACAACGGAGGCGCGGGGTGCGTGTGCCACCTGCTCATGGATGACGTGGTCAGTGCGGATAACT
ATACACTGGACCTGTGGGCTGGGCAGCAGCTGCTGTGGAAGGGCTCCTTCAAGCCCAGCGAGCATGTGAAACCCAGGGCCCCAGGAAACCTGACAGTTCA
CACCAATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGGAGT
GAAAACGACCCGGCAGATTTCAGAATCTATAACGTGACCTACCTAGAACCCTCCCTCCGCATCGCAGCCAGCACCCTGAAGTCTGGGATTTCCTACAGGG
CACGGGTGAGGGCCTGGGCTCAGTGCTATAACACCACCTGGAGTGAGTGGAGCCCCAGCACCAAGTGGCACAACTCCTACAGGGAGCCCTTCGAGCAGCA
CCTCCTGCTGGGCGTCAGCGTTTCCTGCATTGTCATCCTGGCCGTCTGCCTGTTGTGCTATGTCAGCATCACCAAGATTAAGAAAGAATGGTGGGATCAG
ATTCCCAACCCAGCCCGCAGCCGCCTCGTGGCTATAATAATCCAGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGT
GCCCACACTGGAAGAATTGTCTTACCAAGCTCTTGCCCTGTTTTCTGGAGCACAACATGAAAAGGGATGAAGATCCTCACAAGGCTGCCAAAGAGATGCC
TTTCCAGGGCTCTGGAAAATCAGCATGGTGCCCAGTGGAGATCAGCAAGACAGTCCTCTGGCCAGAGAGCATCAGCGTGGTGCGATGTGTGGAGTTGTTT
GAGGCCCCGGTGGAGTGTGAGGAGGAGGAGGAGGTAGAGGAAGAAAAAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAA
GGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCT
TCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTC
CACCTGGAGCCAAGTCCTCCTGCCAGCCCGACCCAGAGTCCAGACAACCTGACTTGCACAGAGACGCCCCTCGTCATCGCAGGCAACCCTGCTTACCGCA
GCTTCAGCAACTCCCTGAGCCAGTCACCGTGTCCCAGAGAGCTGGGTCCAGACCCACTGCTGGCCAGACACCTGGAGGAAGTAGAACCCGAGATGCCCTG
TGTCCCCCAGCTCTCTGAGCCAACCACTGTGCCCCAACCTGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCA
GCCCCCGTCTCGGCCCCCACCAGTGGCTATCAGGAGTTTGTACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAG
GAGAGGCTGGTTACAAGGCCTTCTCAAGCCTGCTTGCCAGCAGTGCTGTGTCCCCAGAGAAATGTGGGTTTGGGGCTAGCAGTGGGGAAGAGGGGTATAA
GCCTTTCCAAGACCTCATTCCTGGCTGCCCTGGGGACCCTGCCCCAGTCCCTGTCCCCTTGTTCACCTTTGGACTGGACAGGGAGCCACCTCGCAGTCCG
CAGAGCTCACATCTCCCAAGCAGCTCCCCAGAGCACCTGGGTCTGGAGCCGGGGGAAAAGGTAGAGGACATGCCAAAGCCCCCACTTCCCCAGGAGCAGG
CCACAGACCCCCTTGTGGACAGCCTGGGCAGTGGCATTGTCTACTCAGCCCTTACCTGCCACCTGTGCGGCCACCTGAAACAGTGTCATGGCCAGGAGGA
TGGTGGCCAGACCCCTGTCATGGCCAGTCCTTGCTGTGGCTGCTGCTGTGGAGACAGGTCCTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCT
CCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCATCTCAGAGAAGAGTAAATCCTCATCATCCTTCCATCCTGCCC
CTGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCATGTCCTCTTGTT
GCTGAGTCTGCAGATGAGGACTAGGGCTTATCCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGCTGGCAGATTTCCAAAAGACTTGAAGAACC
ATGGTATGAAGGTGATTGGCCCCACTGACGTTGGCCTAACACTGGGCTGCAGAGACTGGACCCCGCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAG
AGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGAGGCCCTTGGGCACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCT
CCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCATGGCCCACATGGAGGCCCACCTGCCTCTGTCTCAC
TGAACTAGAAGCCGAGCCTAGAAACTAACACAGCCATCAAGGGAATGACTTGGGCGGCCTTGGGAAATCGATGAGAAATTGAACTTCAGGGAGGGTGGTC
ATTGCCTAGAGGTGCTCATTCATTTAACAGAGCTTCCTTAGGTTGATGCTGGAGGCAGAATCCCGGCTGTCAAGGGGTGTTCAGTTAAGGGGAGCAACAG
AGGACATGAAAAATTGCTGTGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGGAACCCCC
AGAATAAATATGCTCAGCCACCCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGTGCTAGGG
AAGGCGGGAACCTTGGGTTGAGTAATGCTCGTCTGTGTGTTTTAGTTTCATCACCTGTTATCTGTGTTTGCTGAGGAGAGTGGAACAGAAGGGGTGGAGT
TTTGTATAAATAAAGTTTCTTTGTCTCTTTATTTTTTATGTATTAACCAAACATACCT


Protein Sequence     (SEQ ID NO:469):
MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRLLYQLVFLLSEAHTCVPENNGGAGCVCHLLMDDVVSADNYT
LDLWAGQQLLWKGSFKPSEHVKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNIWSENDPADFRIYNVTYLEPSLRIAASTLKSGISYRAR
VRAWAQCYNTTWSEWSPSTKWHNSYREPFEQHLLLGVSVSCIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCP
HWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVRCVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGRE
GIVARLTESLFLDLLGEENGGFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPPWGKEQPLHLEPSPPASPTQSPDNLTCTETPLVIAGNPAYRSF
SNSLSQSPCPRELGPDPLLARHLEEVEPEMPCVPQLSEPTTVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGE
AGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDREPPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPLPQEQAT
DPLVDSLGSGIVYSALTCHLCGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASLAPSGISEKSKSSSSFHPAPG
NAQSSSQTPKIVNFVSVGPTYMRVS*



SNP Information


Context              (SEQ ID NO:4448):
AGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCT
Y
CCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCCACC
Celera SNP ID:                hCV11715753
SNP Position Transcript:      1904
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,96|C,96)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 433,(L,CTT) (L,CTC)



Context              (SEQ ID NO:4449):
GCCCCGGTGGAGTGTGAGGAGGAGGAGGAGGTAGAGGAAGAAAAAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGG
M
GGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTT
Celera SNP ID:                hCV8903098
SNP Position Transcript:      1804
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|C,0)  african american(A,17|C,21)  total(A,57|C,21)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 400,(E,GAG) (A,GCG)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-) ; no_pop(A,6296|C,6160)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 400,(E,GAG) (A,GCG)



Context              (SEQ ID NO:4450):
AAGTCCTCCTGCCAGCCCGACCCAGAGTCCAGACAACCTGACTTGCACAGAGACGCCCCTCGTCATCGCAGGCAACCCTGCTTACCGCAGCTTCAGCAAC
Y
CCCTGAGCCAGTCACCGTGTCCCAGAGAGCTGGGTCCAGACCCACTGCTGGCCAGACACCTGGAGGAAGTAGAACCCGAGATGCCCTGTGTCCCCCAGCT
Celera SNP ID:                hCV8903092
SNP Position Transcript:      2112
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,204|C,72) ; no_pop(T,4564|C,1644)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 503,(S,TCC) (P,CCC)



Context              (SEQ ID NO:4451):
GCATTGTCATCCTGGCCGTCTGCCTGTTGTGCTATGTCAGCATCACCAAGATTAAGAAAGAATGGTGGGATCAGATTCCCAACCCAGCCCGCAGCCGCCT
S
GTGGCTATAATAATCCAGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGTGCCCACACTGGAAGAATTGTCTTACCA
Celera SNP ID:                hCV11715747
SNP Position Transcript:      1427
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 274,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4452):
GGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCT
Y
CTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCC
Celera SNP ID:                hCV11715752
SNP Position Transcript:      1901
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,79)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 432,(L,CTT) (L,CTC)



Context              (SEQ ID NO:4453):
GAGAGCATCAGCGTGGTGCGATGTGTGGAGTTGTTTGAGGCCCCGGTGGAGTGTGAGGAGGAGGAGGAGGTAGAGGAAGAAAAAGGGAGCTTCTGTGCAT
Y
GCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGG
Celera SNP ID:                hCV30395111
SNP Position Transcript:      1765
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 387,(S,TCG) (L,TTG)



Context              (SEQ ID NO:4454):
AAGGGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCT
K
CTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGT
Celera SNP ID:                hCV11715750
SNP Position Transcript:      1847
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,798|T,318) ; no_pop(G,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 414,(L,CTG) (L,CTT)



Context              (SEQ ID NO:4455):
CTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAAATCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCT
R
TCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTAGAGATAGTGATAAGTACTGGGACAGACATAAACAGGGTGCTGTGA
Celera SNP ID:                hCV2769585
SNP Position Transcript:      127
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,3|G,2) ; no_pop(A,-|G,-) ; no_pop(A,255|G,2
79) ; no_pop(A,90|G,30)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4456):
AACTATACACTGGACCTGTGGGCTGGGCAGCAGCTGCTGTGGAAGGGCTCCTTCAAGCCCAGCGAGCATGTGAAACCCAGGGCCCCAGGAAACCTGACAG
K
TCACACCAATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGG
Celera SNP ID:                hCV27957686
SNP Position Transcript:      997
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 131,(V,GTT) (G,GGT)



Context              (SEQ ID NO:4457):
ATGTCTCCGACACTCTGCTGCTGACCTGGAGCAACCCGTATCCCCCTGACAATTACCTGTATAATCATCTCACCTATGCAGTCAACATTTGGAGTGAAAA
Y
GACCCGGCAGATTTCAGAATCTATAACGTGACCTACCTAGAACCCTCCCTCCGCATCGCAGCCAGCACCCTGAAGTCTGGGATTTCCTACAGGGCACGGG
Celera SNP ID:                hCV2769552
SNP Position Transcript:      1106
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,1) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 167,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4458):
CTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCTCCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCATC
Y
CAGAGAAGAGTAAATCCTCATCATCCTTCCATCCTGCCCCTGGCAATGCTCAGAGCTCAAGCCAGACCCCCAAAATCGTGAACTTTGTCTCCGTGGGACC
Celera SNP ID:                hCV8903087
SNP Position Transcript:      2961
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,12|C,1375) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 786,(S,TCA) (P,CCA)



Context              (SEQ ID NO:4459):
GGAGCTTCTGTGCATCGCCTGAGAGCAGCAGGGATGACTTCCAGGAGGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCT
Y
GGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCC
Celera SNP ID:                hCV25649682
SNP Position Transcript:      1850
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,26|T,0)  total(C,65|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 415,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4460):
GGGAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCA
Y
GCCTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCC
Celera SNP ID:                hCV8903097
SNP Position Transcript:      1896
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,276|C,-) ; no_pop(T,783|C,3663)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 431,(C,TGC) (R,CGC)



Context              (SEQ ID NO:4461):
CCACCTGTGCGGCCACCTGAAACAGTGTCATGGCCAGGAGGATGGTGGCCAGACCCCTGTCATGGCCAGTCCTTGCTGTGGCTGCTGCTGTGGAGACAGG
K
CCTCGCCCCCTACAACCCCCCTGAGGGCCCCAGACCCCTCTCCAGGTGGGGTTCCACTGGAGGCCAGTCTGTGTCCGGCCTCCCTGGCACCCTCGGGCAT
Celera SNP ID:                hCV8903091
SNP Position Transcript:      2859
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,17)  african american(G,13|T,19)  total(G,14|T,36)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 752,(S,TCC) (A,GCC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,474|G,636) ; no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 752,(S,TCC) (A,GCC)



Context              (SEQ ID NO:4462):
GAAGGGAGGGCATTGTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATG
Y
CTTCTTCCACCTTCGGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTC
Celera SNP ID:                hCV11715751
SNP Position Transcript:      1898
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,91|T,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 431,(C,TGC) (C,TGT)



Context              (SEQ ID NO:4463):
CCCTGGGGACCCTGCCCCAGTCCCTGTCCCCTTGTTCACCTTTGGACTGGACAGGGAGCCACCTCGCAGTCCGCAGAGCTCACATCTCCCAAGCAGCTCC
Y
CAGAGCACCTGGGTCTGGAGCCGGGGGAAAAGGTAGAGGACATGCCAAAGCCCCCACTTCCCCAGGAGCAGGCCACAGACCCCCTTGTGGACAGCCTGGG
Celera SNP ID:                hCV15984179
SNP Position Transcript:      2628
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 675,(P,CCA) (S,TCA)



Context              (SEQ ID NO:4464):
AGGATGCTCAGGGGTCACAGTGGGAGAAGCGGTCCCGAGGCCAGGAACCAGCCAAGTGCCCACACTGGAAGAATTGTCTTACCAAGCTCTTGCCCTGTTT
Y
CTGGAGCACAACATGAAAAGGGATGAAGATCCTCACAAGGCTGCCAAAGAGATGCCTTTCCAGGGCTCTGGAAAATCAGCATGGTGCCCAGTGGAGATCA
Celera SNP ID:                hCV11715748
SNP Position Transcript:      1544
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|T,39)  african american(C,0|T,36)  total(C,1|T,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 313,(F,TTT) (F,TTC)

SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,160|C,4) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:469, 313,(F,TTT) (F,TTC)



Context              (SEQ ID NO:4465):
CCCCAACCTGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCAGCCCCCGTCTCGGCCCCCACCAGTGGCTATC
R
GGAGTTTGTACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAGGAGAGGCTGGTTACAAGGCCTTCTCAAGCCTG
Celera SNP ID:                hCV2351160
SNP Position Transcript:      2332
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,174|G,102) ; no_pop(A,3456|G,1275)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 576,(Q,CAG) (R,CGG)



Context              (SEQ ID NO:4466):
GTGGCCCGGCTAACAGAGAGCCTGTTCCTGGACCTGCTCGGAGAGGAGAATGGGGGCTTTTGCCAGCAGGACATGGGGGAGTCATGCCTTCTTCCACCTT
Y
GGGAAGTACGAGTGCTCACATGCCCTGGGATGAGTTCCCAAGTGCAGGGCCCAAGGAGGCACCTCCCTGGGGCAAGGAGCAGCCTCTCCACCTGGAGCCA
Celera SNP ID:                hCV8903093
SNP Position Transcript:      1912
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,537|T,3891) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 436,(S,TCG) (L,TTG)



Context              (SEQ ID NO:4467):
TGAGCCAGAAACCTGGGAGCAGATCCTCCGCCGAAATGTCCTCCAGCATGGGGCAGCTGCAGCCCCCGTCTCGGCCCCCACCAGTGGCTATCAGGAGTTT
R
TACATGCGGTGGAGCAGGGTGGCACCCAGGCCAGTGCGGTGGTGGGCTTGGGTCCCCCAGGAGAGGCTGGTTACAAGGCCTTCTCAAGCCTGCTTGCCAG
Celera SNP ID:                hCV15984178
SNP Position Transcript:      2340
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 579,(V,GTA) (I,ATA)



Context              (SEQ ID NO:4468):
CTCTACTTGCGAGTGGAAGATGAATGGTCCCACCAATTGCAGCACCGAGCTCCGCCTGTTGTACCAGCTGGTTTTTCTGCTCTCCGAAGCCCACACGTGT
X
TCCCTGAGAACAACGGAGGCGCGGGGTGCGTGTGCCACCTGCTCATGGATGACGTGGTCAGTGCGGATAACTATACACTGGACCTGTGGGCTGGGCAGCA
Celera SNP ID:                hCV2769554
SNP Position Transcript:      828
SNP Source:                   HGMD; dbSNP; Celera; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,7|A,4) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:469, 75,(F,TTC) (V,GTC)



Context              (SEQ ID NO:4469):
CAAAATCGTGAACTTTGTCTCCGTGGGACCCACATACATGAGGGTCTCTTAGGTGCATGTCCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTAT
Y
CATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGGCTGGCAGATTTCCAAAAGACTTGAAGAACCATGGTATGAAGGTGATTGGCCCCACTGACGTT
Celera SNP ID:                hCV15984195
SNP Position Transcript:      3132
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,28|T,0)  african american(C,29|T,1)  total(C,57|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4470):
GAGGGTCTCTTAGGTGCATGTCCTCTTGTTGCTGAGTCTGCAGATGAGGACTAGGGCTTATCCATGCCTGGGAAATGCCACCTCCTGGAAGGCAGCCAGG
S
TGGCAGATTTCCAAAAGACTTGAAGAACCATGGTATGAAGGTGATTGGCCCCACTGACGTTGGCCTAACACTGGGCTGCAGAGACTGGACCCCGCCCAGC
Celera SNP ID:                hCV11715754
SNP Position Transcript:      3171
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,160|C,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4471):
ACTGGACCCCGCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAGAGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGA
R
GCCCTTGGGCACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCC
Celera SNP ID:                hCV15984196
SNP Position Transcript:      3355
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4472):
GCCCAGCATTGGGCTGGGCTCGCCACATCCCATGAGAGTAGAGGGCACTGGGTCGCCGTGCCCCACGGCAGGCCCCTGCAGGAAAACTGAGGCCCTTGGG
M
ACCTCGACTTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCA
Celera SNP ID:                hCV15984197
SNP Position Transcript:      3365
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4473):
TTGTGAACGAGTTGTTGGCTGCTCCCTCCACAGCTTCTGCAGCAGACTGTCCCTGTTGTAACTGCCCAAGGCATGTTTTGCCCACCAGATCATGGCCCAC
R
TGGAGGCCCACCTGCCTCTGTCTCACTGAACTAGAAGCCGAGCCTAGAAACTAACACAGCCATCAAGGGAATGACTTGGGCGGCCTTGGGAAATCGATGA
Celera SNP ID:                hCV8903086
SNP Position Transcript:      3474
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,661|G,1099) ; no_pop(A,29|G,18) ; no_pop(A,72|G,48)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4474):
TTCATTTAACAGAGCTTCCTTAGGTTGATGCTGGAGGCAGAATCCCGGCTGTCAAGGGGTGTTCAGTTAAGGGGAGCAACAGAGGACATGAAAAATTGCT
R
TGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGGAACCCCCAGAATAAATATGCTCAGCC
Celera SNP ID:                hCV8903085
SNP Position Transcript:      3719
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,523|G,493) ; no_pop(A,135|G,291) ; no_pop(A,46|G,72)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4475):
AGCAACAGAGGACATGAAAAATTGCTGTGACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATG
S
AACCCCCAGAATAAATATGCTCAGCCACCCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGT
Celera SNP ID:                hCV27535828
SNP Position Transcript:      3793
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4476):
GACTAAAGCAGGGACAATTTGCTGCCAAACACCCATGCCCAGCTGTATGGCTGGGGGCTCCTCGTATGCATGGAACCCCCAGAATAAATATGCTCAGCCA
Y
CCTGTGGGCCGGGCAATCCAGACAGCAGGCATAAGGCACCAGTTACCCTGCATGTTGGCCCAGACCTCAGGTGCTAGGGAAGGCGGGAACCTTGGGTTGA
Celera SNP ID:                hCV8903081
SNP Position Transcript:      3821
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,425|T,35) ; no_pop(C,64|T,126) ; no_pop(C,960|T,96)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4477):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAA
A
ATCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCTATCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATT
Celera SNP ID:                hCV27077153
SNP Position Transcript:      81
SNP Source:                   Celera
Population(Allele,Count):     no_pop(-,3|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:469, None



Context              (SEQ ID NO:4478):
GGTTGCAGTGAGCCGACATCACGCCACTGCTCTCCAGCTTGGGGAACAGAGCAAACCTCCGTCTCAAAAAAAAAAAAAAAA
A
TCTAGGGAAGTTGAAAACATTTTGCAGTCAAAGCTATCTTTGCTATCTGCATCTTGAAATAAAATAAACATTCATACATGTAACCTCATTAATCTGATTA
Celera SNP ID:                hCV27077152
SNP Position Transcript:      82
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,4|-,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:469, None



Gene Number:                  88
Celera Gene:                  hCG1990826 - 146000219593311
Celera Transcript:            hCT2268389 - 146000219593312
Public Transcript Accession:
Celera Protein:               hCP1860859 - 197000069373993
Public Protein Accession:
Gene Symbol:                  LOC143458
Protein Name:                  hypothetical protein LOC143458
Celera Genomic Axis:          GA_x5YUV32VW1T(14615815..14911898)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:209):
CGGGCAGCGGGAGCGGCGGCCGCGCCATGTGGCTGCTGGGGCCGCTGTGCCTGCTGCTGAGCAGCGCCGCGGAGAGCCAGCTGCTCCCCGGGAACAACTT
CACCAATGAGTGCAACATACCAGGCAACTTCATGTGCAGCAATGGACGGTGCATCCCGGGCGCCTGGCAGTGTGACGGGCTGCCTGACTGCTTCGACAAG
AGTGATGAGAAGGAGTGCCCCAAGGCTAAGTCGAAATGTGGCCCAACCTTCTTCCCCTGTGCCAGCGGCATCCATTGCATCATTGGTCGCTTCCGGTGCA
ATGGGTTTGAGGACTGTCCCGATGGCAGCGATGAAGAGAACTGCACAGCAAACCCTCTGCTTTGCTCCACCGCCCGCTACCACTGCAAGAACGGCCTCTG
TATTGACAAGAGCTTCATCTGCGATGGACAGAATAACTGTCAAGACAACAGTGATGAGGAAAGCTGTGAAAGTTCTCAAGAACCCGGCAGTGGGCAGGTG
TTTGTGACTTCAGAGAACCAACTTGTGTATTACCCCAGCATCACCTATGCCATCATCGGCAGCTCCGTCATTTTTGTGCTGGTGGTGGCCCTGCTGGCAC
TGGTCTTGCACCACCAGCGGAAGCGGAACAACCTCATGACGCTGCCCGTGCACCGGCTGCAGCACCCTGTGCTGCTGTCCCGCCTGGTGGTCCTGGACCA
CCCCCACCACTGCAACGTCACCTACAA


Protein Sequence     (SEQ ID NO:470):
MWLLGPLCLLLSSAAESQLLPGNNFTNECNIPGNFMCSNGRCIPGAWQCDGLPDCFDKSDEKECPKAKSKCGPTFFPCASGIHCIIGRFRCNGFEDCPDG
SDEENCTANPLLCSTARYHCKNGLCIDKSFICDGQNNCQDNSDEESCESSQEPGSGQVFVTSENQLVYYPSITYAIIGSSVIFVLVVALLALVLHHQRKR
NNLMTLPVHRLQHPVLLSRLVVLDHPHHCNVTYX



SNP Information


Context              (SEQ ID NO:4479):
GACGGTGCATCCCGGGCGCCTGGCAGTGTGACGGGCTGCCTGACTGCTTCGACAAGAGTGATGAGAAGGAGTGCCCCAAGGCTAAGTCGAAATGTGGCCC
R
ACCTTCTTCCCCTGTGCCAGCGGCATCCATTGCATCATTGGTCGCTTCCGGTGCAATGGGTTTGAGGACTGTCCCGATGGCAGCGATGAAGAGAACTGCA
Celera SNP ID:                hCV1478604
SNP Position Transcript:      245
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,26|G,14)  african american(A,25|G,11)  total(A,51|G,25)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:470, 73,(P,CCA) (P,CCG)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4) ; no_pop(A,-|G,-) ; no_pop(A,1356|G,
744)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:470, 73,(P,CCA) (P,CCG)



Gene Number:                  89
Celera Gene:                  hCG2002349 - 62000133393000
Celera Transcript:            hCT2287125 - 62000133393001
Public Transcript Accession:
Celera Protein:               hCP1792178 - 197000064924819
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3KM(392471..423908)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:210):
TGTGGAGCCATTTGAACAGGCTCCTCTTCTGGAGCATATTTTCTTCTGTCACTTGTAGAAAAGCTGTATTGGATTGTGAGGCAATGAAAACAAATGAATT
CCCTTCTCCATGTTTGGACTCAAAGACTAAGGTGGTTATGAAGGGTCAAAATGTATCTATGTTTTGTTCCCATAAGAACAAATCACTGCAGATCACCTAT
TCATTGTTTCGACGTAAGACACACCTGGGAACCCAGGATGGAAAAGGTGAACCTGCGATTTTTAACCTAAGCATCACAGAAGCCCATGAATCAGGCCCCT
ACAAATGCAAAGCCCAAGTTACCAGCTGTTCAAAATACAGTCGTGACTTCAGCTTCACGATTGTCGACCCGGTGACTTCCCCAGTGCTGAACATTATGGT
CATTCAAACAGAAACAGACCGACATATAACATTACATTGCCTCTCAGTCAATGGCTCGCTGCCCATCAATTACACTTTCTTTGAAAACCATGTTGCCATA
TCACCAGCTATTTCCAAGTATGACAGGGAGCCTGCTGAATTTAACTTAACCAAGAAGAATCCTGGAGAAGAGGAAGAGTATAGGTGTGAAGCTAAAAACA
GATTGCCTAACTATGCAACATACAGTCACCCTGTCACCATGCCCTCAACAGGCGGAGACAGCTGTCCTTTCTGTCTGAAGCTACTACTTCCAGGGTTATT
ACTGTTGCTGGTGGTGATAATCCTAATTCTGGCTTTTTGGGTACTGCCCAAATACAAAACAAGAAAAGCTATGAGAAATAATGTGCCCAGGGACCGTGGA
GACACAGCCATGGAAGTTGGAATCTATGCAAATATCCTTGAAAAACAAGCAAAGGAGGAATCTGTGCCAGAAGTGGGATCCAGGCCGTGTGTTTCCACAG
CCCAAGATGAGGCCAAACACTCCCAGGAGCTACAGTATGCCACCCCCGTGTTCCAGGAGGTGGCACCAAGAGAGCAAGAAGCCTGTGATTCTTATAAATC
TGGATATGTCTATTCTGAACTCCTGACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAACTACAAGCCTGAGCCACCGTGCCCGGCCCTGA
ATCGCTTTAGTAAATAAAGGGTCTCCAAGAATAAATTCATCCGAACATGC


Protein Sequence     (SEQ ID NO:471):
MKTNEFPSPCLDSKTKVVMKGQNVSMFCSHKNKSLQITYSLFRRKTHLGTQDGKGEPAIFNLSITEAHESGPYKCKAQVTSCSKYSRDFSFTIVDPVTSP
VLNIMVIQTETDRHITLHCLSVNGSLPINYTFFENHVAISPAISKYDREPAEFNLTKKNPGEEEEYRCEAKNRLPNYATYSHPVTMPSTGGDSCPFCLKL
LLPGLLLLLVVIILILAFWVLPKYKTRKAMRNNVPRDRGDTAMEVGIYANILEKQAKEESVPEVGSRPCVSTAQDEAKHSQELQYATPVFQEVAPREQEA
CDSYKSGYVYSELLTSDDLPASASQSAGTTSLSHRARP*



SNP Information


Gene Number:                  90
Celera Gene:                  hCG2002352 - 62000133393029
Celera Transcript:            hCT2287128 - 62000133393071
Public Transcript Accession:
Celera Protein:               hCP1792184 - 197000064924825
Public Protein Accession:
Gene Symbol:                  LOC90799
Protein Name:                  hypothetical protein BC009518
Celera Genomic Axis:          GA_x5YUV32W3KM(322734..365972)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:211):
GGAGAATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTTGTGACTGCCCCACTACACTCCAGCCTGGGTGACAGAGCAATAACCTGTCTCAGAAAAA
GGAGGTACATTTTATGGTATGTCAAAACATCTGAATAAAACTAGTATTTAAAAAAAAAAAACCTTGGGAAATACAATCAGTATATACCTCTAGTTGGCCA
AAATGATATTCCTCAATGACTATTTTTACGATTAAATAACTGACAGATATTTAAGAAACTGTTTGAAGAAGGTTTAAACATTCAAAAGCAAAGATTACGA
GACCTAAGAAACTATGCCAAAGAAAAGCGAGATGAACAAAGGAGACGCCACCAGGATGAACTGGACTCCATGGAGAACTACTATAAGGACCAGGTGGGCT
CCTGGCACTTGCTTACGCTGTTGTGCTTAGTCCTGACCACTTGCCCTTGTGGCAAAACTTGCTTAGTCTGTTGACAATAAACCTTGTGTTAACTGAAGTT
TGCACTCTACAGATTAGAGGACCCCATTTCAAGATTGAAATTTAAGATCAAATAATACCTGACCATAGTACAGTATATTTCCCTATTTCCATTAAAATGA
TTTTAAGCCTGTGAACATTAAGAAATGTTACATTTGGACTACAAACATTAAATATAATATTTGTTTTTTTTCTTCCTATAAACAGTTTTCATTGCTGGCA
GAAGCCATATCACAGGAACATCAAGAACTTAAAGCCAGAGAGAAATCTCAGGCCCAGGTAATAATTAAGATAGAAGCCAAGTCATGCACTGCATGGCAAT
GTTTCTTTCAGCAAGGGACCTCGTACATTGGTGGTTGGAGCAATAGGCTGTATCATATAGCCCCGGTGTGCAGTGGACTGTACTCTCTAGGTTTGTGTAA
GTACACTGACATTTTGCACAACAACAAAATCATTTAATGATGCATTTCTTGGAACATATCTCCATCATTAAGTGACACATGACTAATTTACATTTTTAGG
AAGTAGAAAACCAAATGTATTATACCTGTAAAGGGAATGGAGAGAAGACTAATAAGGCAATCCATCTATGACCCAAGACATTTTTATCCTATGATTTTAA
CTTTAGTTAGGTCTCTGTAAGAGCTGCTGTTGCTAGATTATTGAAAATTTTGGAGGAGTTTGATTAGCTGGAAGATGGAGAGGGAACAATAGATGAGGGC
CTGGATAAATGCTGTGAACAGCGGGATGACATGCCTTCTTTTTTCAGACATTACATAAGGTGAAGAGGGAGCTGAGATCTAAGATGGAGAAGGAAATTCA
GCAGCTGCAGGACATGATAACACAGAATGATGATGATGTTTTCTTCCGGGAACTGGAAGCTGAGCGCTTCAGATCTCGGCTTCAGCTGGCTTCCTTTCAG
TACAGTAAAAGTCCCTCCCTATGAGGCCAGACTTGATAATAGTAGGTGAAGGTTCTGGAGGCCTTTACCAGGACAGAGCTAGAATCGAGCCAGTAAACAG
TCTAAGCCAGAAAAATAATTTTCAAATGCTTTACCTGTATTTTCATTCCAGTACTTTTTATGATTTTTTAAATAAAAATTGTTTTCTAAAAGCTTATTG


Protein Sequence     (SEQ ID NO:472):
MRPDLIIVGEGSGGLYQDRARIEPVNSLSQKNNFQMLYLYFHSSTFYDFLNKNCFLKAYX


SNP Information


Context              (SEQ ID NO:4480):
CTGGGTGACAGAGCAATAACCTGTCTCAGAAAAAGGAGGTACATTTTATGGTATGTCAAAACATCTGAATAAAACTAGTATTTAAAAAAAAAAAACCTTG
K
GAAATACAATCAGTATATACCTCTAGTTGGCCAAAATGATATTCCTCAATGACTATTTTTACGATTAAATAACTGACAGATATTTAAGAAACTGTTTGAA
Celera SNP ID:                hCV29967601
SNP Position Transcript:      167
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:472, None



Context              (SEQ ID NO:4481):
AGTTGTGACTGCCCCACTACACTCCAGCCTGGGTGACAGAGCAATAACCTGTCTCAGAAAAAGGAGGTACATTTTATGGTATGTCAAAACATCTGAATAA
W
ACTAGTATTTAAAAAAAAAAAACCTTGGGAAATACAATCAGTATATACCTCTAGTTGGCCAAAATGATATTCCTCAATGACTATTTTTACGATTAAATAA
Celera SNP ID:                hCV30471613
SNP Position Transcript:      139
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:472, None



Context              (SEQ ID NO:4482):
AAGGAAATTCAGCAGCTGCAGGACATGATAACACAGAATGATGATGATGTTTTCTTCCGGGAACTGGAAGCTGAGCGCTTCAGATCTCGGCTTCAGCTGG
Y
TTCCTTTCAGTACAGTAAAAGTCCCTCCCTATGAGGCCAGACTTGATAATAGTAGGTGAAGGTTCTGGAGGCCTTTACCAGGACAGAGCTAGAATCGAGC
Celera SNP ID:                hDV69171781
SNP Position Transcript:      1390
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:472, None



Gene Number:                  90
Celera Gene:                  hCG2002352 - 62000133393029
Celera Transcript:            hCT2287129 - 62000133393030
Public Transcript Accession:  NM_138363
Celera Protein:               hCP1792181 - 197000064924822
Public Protein Accession:     NP_612372
Gene Symbol:                  LOC90799
Protein Name:                  hypothetical protein BC009518
Celera Genomic Axis:          GA_x5YUV32W3KM(322734..365972)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:212):
TCTCTAAACTTCCCAAACCGCCCCCGTTTCACGTCCTGTGAAAGGAAGTGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCTT
CTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAGTGTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCCG
CGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATGCTGAGTGGGTAACCATTGCCAATAACCTTCTTTTTAAGTGTCATATACATC
TGAGAATACATGAACTTCAAGACTGTGATGCTAATGTTTTTATTGCTCTTTATCAGTCTATTTTGGGAGAAAAGGTACCAGACCTCATAGTTATTCCTAG
GAGTCAAGAAGATGATGCACACAATGTACAAGCAGTAATTGATTCACTGGCCTTGGACTACTTGCAGGTCAGCTTGTCTCACATAACAGGAGAAAATATA
GTGAAAGGAGATAAAGAATCTATTAAGAATCTCCTGGAAATATTTGATGGTTTGTTGGAGTATCTTACAGAACGCATCAGTGAAACATCTCATGAGAAAA
GTGAAACTGAACAGTATTTTAAAGAATCTGATCGAGGAGAACGTTTGGAAGAGCCAGAAAGTACTAAAGAATCTAAATCATCATGGAAAAGAGTTTCTTT
TGGGAGGTGCTCCTTGTCTTCTGAGATGTTGGGCCCCTCTTGGGATGGAGATGAAGCAGAATCCACTGGTGAAATCATTAGACTTGGAGACACAGCACAC
ACCTTTTCTCTAAGAAGTAATGGTGCTCAATGTCCTAATGAAATGCTGTCTAAAAAAGCCTTAGCCTCACCAAGTTCTAAATCACATGAAGATATGTTGT
ACCCTCCTAGTGTTTTGTCCAAGAGTAGGACATCCTTTGTTGAAGACACGGAAACCCTTTCTGTGAGTGGGATTCCAAATGCTAGGAAGCTAGGGGAGCC
TATCCGAGCAGCTATTCCTTTACATCCACCCTACCACCCTTCAGAGCCTCGAGCACCCTGCCCCATAGGAAAAGAATACTTGCATTCAAGTCACTGCTCC
CCAGCCGTAAATTCTACTGGAGAGCATACGGAATTTTCTGGGGATCTAGATGATGGACTTTTCTTAATTTCCAAGTTGCCTAAAGGCAGCAAATGGGAAG
TATATCCAGCTCAGGTCCAAGGGCCTAGGACAAGGAAGCCTCCCAAAGGAAAAAGAAATGAAAACAGAGCTACAGCCTCATCCTGCAATTCACCTTTCCC
CCAGAGGCCAAGAAAGAGATTAACAGAACAAGAATTACATGATGTATCAGAAAAACTCTCTCAGCGGCTTTCTGAACTAGATTGGATGTTAAAAAGTGCT
CTGGGTGATCGGATTAAAGAAAAGACTGACCATAAAGAAGAAAATACTGGAAATGAGGAGGTAGAGGATGGAACTGAGGAGACACTGTCTCAGCACAGTG
ATGGCATCGTGGAGTATGGGCCAAAGAAGTCAAGGCCAGGACTTTCCATGCGTAGAAAGCCACCCTACAGATCCCATTCGCTCTCTCCATCTCCAGTTAA
CAAACACAAACAGTTCCACTTGGAGAGAAAAAGGCAGCGCAAGCCAAGAGAAACAGATGTCCGCCAATTCCAAGCACAGGCGTTTACTGAAGCATTTGAA
AGGGAACTAAGAAGACATAAAGTTCAAGAGAATATTGGACCTCTAAGAATACATGAGAAGGAGGAGGAAACAGAAAAAATATACAGAGGAGAAGCTGTTC
GTAAAGGAACTCCAGAATGTAGTCAGCCCTGGAAGATTTACTCTAGAAAAACCACAACGCAGAGTCTAAGAGGTGGCCTCCCAAAGCCAAATAAAGCAGT
TCCAATGAAAGTAAGTGAACACAGTCTCCTGCCCCTTATGCTGGAGCAGTTTCCGTTTCTTTATGTTTCTGGCCCAACACTAAGCAAAATGTGGAAACAG
CAAATTGCACAGGTTGAACAGCTTAAGAAAGAAGCATGTAGAGAAAATCGATCAAAGAAGAAACTCCAAGATGAAATAGAAGAAGCCCTAAGAAGGCATG
ACCTCCTTACTACCCTTGTCAAGAAAGAATATGAACATAACAAGAGACTGCAAGACTTCAAGGACTGCATTCGTAGGCAAAGGTTGACCCAATCAAAGAT
AAAAGAAAATCGACAGCAAATCGTTCGTGCTCGAAAATATTATGATGATTATAGAGTTCAGTTGTGTGCAAAAATGATGAGAATGAGGACCCGGGAAGAA
ATGATATTTAAGAAACTGTTTGAAGAAGGTTTAAACATTCAAAAGCAAAGATTACGAGACCTAAGAAACTATGCCAAAGAAAAGCGAGATGAACAAAGGA
GACGCCACCAGGATGAACTGGACTCCATGGAGAACTACTATAAGGACCAGTTTTCATTGCTGGCAGAAGCCATATCACAGGAACATCAAGAACTTAAAGC
CAGAGAGAAATCTCAGGCCCAGACATTACATAAGGTGAAGAGGGAGCTGAGATCTAAGATGGAGAAGGAAATTCAGCAGCTGCAGGACATGATAACACAG
AATGATGATGATGTTTTCTTCCGGGAACTGGAAGCTGAGCGCTTCAGATCTCGGCTTCAGCTGGCTTCCTTTCAGTACAGTAAAAGTCCCTCCCTATGAG
GCCAGACTTGATAATAGTAGGTGAAGGTTCTGGAGGCCTTTACCAGGACAGAGCTAGAATCGAGCCAGTAAACAGTCTAAGCCAGAAAAATAATTTTCAA
ATGCTTTACCTGTATTTTCATTCCAGTACTTTTTATGATTTTTTAAATAAAAATTGTTTTCTAAAAGCTTATTG


Protein Sequence     (SEQ ID NO:473):
MAGSDAEWVTIANNLLFKCHIHLRIHELQDCDANVFIALYQSILGEKVPDLIVIPRSQEDDAHNVQAVIDSLALDYLQVSLSHITGENIVKGDKESIKNL
LEIFDGLLEYLTERISETSHEKSETEQYFKESDRGERLEEPESTKESKSSWKRVSFGRCSLSSEMLGPSWDGDEAESTGEIIRLGDTAHTFSLRSNGAQC
PNEMLSKKALASPSSKSHEDMLYPPSVLSKSRTSFVEDTETLSVSGIPNARKLGEPIRAAIPLHPPYHPSEPRAPCPIGKEYLHSSHCSPAVNSTGEHTE
FSGDLDDGLFLISKLPKGSKWEVYPAQVQGPRTRKPPKGKRNENRATASSCNSPFPQRPRKRLTEQELHDVSEKLSQRLSELDWMLKSALGDRIKEKTDH
KEENTGNEEVEDGTEETLSQHSDGIVEYGPKKSRPGLSMRRKPPYRSHSLSPSPVNKHKQFHLERKRQRKPRETDVRQFQAQAFTEAFERELRRHKVQEN
IGPLRIHEKEEETEKIYRGEAVRKGTPECSQPWKIYSRKTTTQSLRGGLPKPNKAVPMKVSEHSLLPLMLEQFPFLYVSGPTLSKMWKQQIAQVEQLKKE
ACRENRSKKKLQDEIEEALRRHDLLTTLVKKEYEHNKRLQDFKDCIRRQRLTQSKIKENRQQIVRARKYYDDYRVQLCAKMMRMRTREEMIFKKLFEEGL
NIQKQRLRDLRNYAKEKRDEQRRRHQDELDSMENYYKDQFSLLAEAISQEHQELKAREKSQAQTLHKVKRELRSKMEKEIQQLQDMITQNDDDVFFRELE
AERFRSRLQLASFQYSKSPSL*



SNP Information


Context              (SEQ ID NO:4483):
CTAATGAAATGCTGTCTAAAAAAGCCTTAGCCTCACCAAGTTCTAAATCACATGAAGATATGTTGTACCCTCCTAGTGTTTTGTCCAAGAGTAGGACATC
Y
TTTGTTGAAGACACGGAAACCCTTTCTGTGAGTGGGATTCCAAATGCTAGGAAGCTAGGGGAGCCTATCCGAGCAGCTATTCCTTTACATCCACCCTACC
Celera SNP ID:                hCV25938672
SNP Position Transcript:      935
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,37|T,1)  total(C,73|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:473, 234,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4484):
CTGATCGAGGAGAACGTTTGGAAGAGCCAGAAAGTACTAAAGAATCTAAATCATCATGGAAAAGAGTTTCTTTTGGGAGGTGCTCCTTGTCTTCTGAGAT
R
TTGGGCCCCTCTTGGGATGGAGATGAAGCAGAATCCACTGGTGAAATCATTAGACTTGGAGACACAGCACACACCTTTTCTCTAAGAAGTAATGGTGCTC
Celera SNP ID:                hCV29592621
SNP Position Transcript:      728
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:473, 165,(M,ATG) (I,ATA)



Context              (SEQ ID NO:4485):
TGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCTTCTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAG
Y
GTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCCGCGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATG
Celera SNP ID:                hCV25934223
SNP Position Transcript:      149
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,37)  african american(C,29|T,9)  total(C,32|T,46)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:473, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|T,34)  african american(C,29|T,9)  total(C,33|T,43)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:473, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:473, None



Context              (SEQ ID NO:4486):
AAGGAAATTCAGCAGCTGCAGGACATGATAACACAGAATGATGATGATGTTTTCTTCCGGGAACTGGAAGCTGAGCGCTTCAGATCTCGGCTTCAGCTGG
Y
TTCCTTTCAGTACAGTAAAAGTCCCTCCCTATGAGGCCAGACTTGATAATAGTAGGTGAAGGTTCTGGAGGCCTTTACCAGGACAGAGCTAGAATCGAGC
Celera SNP ID:                hDV69171781
SNP Position Transcript:      2665
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:473, 811,(A,GCT) (V,GTT)



Gene Number:                  90
Celera Gene:                  hCG2002352 - 62000133393029
Celera Transcript:            hCT2287130 - 62000133393054
Public Transcript Accession:
Celera Protein:               hCP1792183 - 197000064924824
Public Protein Accession:
Gene Symbol:                  LOC90799
Protein Name:                  hypothetical protein BC009518
Celera Genomic Axis:          GA_x5YUV32W3KM(322734..365972)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:213):
GTCTCTAAACTTCCCAAACCGCCCCCGTTTCACGTCCTGTGAAAGGAAGTGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCT
TCTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAGTGTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCC
GCGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATGCTGGCCGTGGAACAGCAGTATGCTGTGGGAGAGAGAGAGGCACTGGGGCG
AGGCCGAGTGGGTAACCATTGCCAATAACCTTCTTTTTAAGTGTCATATACATCTGAGAATACATGAACTTCAAGACTGTGATGCTAATGTTTTTATTGC
TCTTTATCAGTCTATTTTGGGAGAAAAGGTACCAGACCTCATAGTTATTCCTAGGAGTCAAGAAGATGATGCACACAATGTACAAGCAGTAATTGATTCA
CTGGCCTTGGACTACTTGCAGGTCAGCTTGTCTCACATAACAGGAGAAAATATAGTGAAAGGAGATAAAGAATCTATTAAGAATCTCCTGGAAATATTTG
ATGGTTTGTTGGAGTATCTTACAGAACGCATCAGTGAAACATCTCATGAGAAAAGTGAAACTGAACAGTATTTTAAAGAATCTGATCGAGGAGAACGTTT
GGAAGAGCCAGAAAGTACTAAAGAATCTAAATCATCATGGAAAAGAGTTTCTTTTGGGAGGTGCTCCTTGTCTTCTGAGATGTTGGGCCCCTCTTGGGAT
GGAGATGAAGCAGAATCCACTGGTGAAATCATTAGACTTGGAGACACAGCACACACCTTTTCTCTAAGAAGTAATGGTGCTCAATGTCCTAATGAAATGC
TGTCTAAAAAAGCCTTAGCCTCACCAAGTTCTAAATCACATGAAGATATGTTGTACCCTCCTAGTGTTTTGTCCAAGAGTAGGACATCCTTTGTTGAAGA
CACGGAAACCCTTTCTGTGAGTGGGATTCCAAATGCTAGGAAGCTAGGGGAGCCTATCCGAGCAGCTATTCCTTTACATCCACCCTACCACCCTTCAGAG
CCTCGAGCACCCTGCCCCATAGGAAAAGAATACTTGCATTCAAGTCACTGCTCCCCAGCCGTAAATTCTACTGGAGAGCATACGGAATTTTCTGGGGATC
TAGATGATGGACTTTTCTTAATTTCCAAGTTGCCTAAAGGCAGCAAATGGGAAGTATATCCAGCTCAGGTCCAAGGGCCTAGGACAAGGAAGCCTCCCAA
AGGAAAAAGAAATGAAAACAGAGCTACAGCCTCATCCTGCAATTCACCTTTCCCCCAGAGGCCAAGAAAGAGATTAACAGAACAAGAATTACATGATGTA
TCAGAAAAACTCTCTCAGCGGCTTTCTGAACTAGATTGGGCAAATGTTAAAAAGTGCTCTGGGTGATCGGATTAAAGAAAAGACTGACCATAAAGAAGAA
AATACTGGAAATGAGGAGGTAGAGGATGGAACTGAGGAGACACTGTCTCAGCACAGTGATGGCATCGTGGAGTATGGGCCAAAGAAGTCAAGGCCAGGAC
TTTCCATGCGTAGAAAGCCACCCTACAGATCCCATTCGCTCTCTCCATCTCCAGTTAACAAACACAAACAGTTCCACTTGGAGAGAAAAAGGCAGCGCAA
GCCAAGAGAAACAGATGTCCGCCAATTCCAAGCACAGGTTCTTCCCCATCTCTTGACTACCATTAAGCAGCAGCCAGTACCATTTCCCCTCAGCCAGATG
CTACCATGA


Protein Sequence     (SEQ ID NO:474):
MTNQRREALLTSVLLSRLLPRALVRASAPQCRVCVDRSFQDTVAFPAASESGGDLPLKHGRLGCWPWNSSMLWERERHWGEAEWVTIANNLLFKCHIHLR
IHELQDCDANVFIALYQSILGEKVPDLIVIPRSQEDDAHNVQAVIDSLALDYLQVSLSHITGENIVKGDKESIKNLLEIFDGLLEYLTERISETSHEKSE
TEQYFKESDRGERLEEPESTKESKSSWKRVSFGRCSLSSEMLGPSWDGDEAESTGEIIRLGDTAHTFSLRSNGAQCPNEMLSKKALASPSSKSHEDMLYP
PSVLSKSRTSFVEDTETLSVSGIPNARKLGEPIRAAIPLHPPYHPSEPRAPCPIGKEYLHSSHCSPAVNSTGEHTEFSGDLDDGLFLISKLPKGSKWEVY
PAQVQGPRTRKPPKGKRNENRATASSCNSPFPQRPRKRLTEQELHDVSEKLSQRLSELDWANVKKCSG*



SNP Information


Context              (SEQ ID NO:4487):
CTAATGAAATGCTGTCTAAAAAAGCCTTAGCCTCACCAAGTTCTAAATCACATGAAGATATGTTGTACCCTCCTAGTGTTTTGTCCAAGAGTAGGACATC
Y
TTTGTTGAAGACACGGAAACCCTTTCTGTGAGTGGGATTCCAAATGCTAGGAAGCTAGGGGAGCCTATCCGAGCAGCTATTCCTTTACATCCACCCTACC
Celera SNP ID:                hCV25938672
SNP Position Transcript:      989
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,37|T,1)  total(C,73|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:474, 310,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4488):
CTGATCGAGGAGAACGTTTGGAAGAGCCAGAAAGTACTAAAGAATCTAAATCATCATGGAAAAGAGTTTCTTTTGGGAGGTGCTCCTTGTCTTCTGAGAT
R
TTGGGCCCCTCTTGGGATGGAGATGAAGCAGAATCCACTGGTGAAATCATTAGACTTGGAGACACAGCACACACCTTTTCTCTAAGAAGTAATGGTGCTC
Celera SNP ID:                hCV29592621
SNP Position Transcript:      782
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:474, 241,(M,ATG) (I,ATA)



Context              (SEQ ID NO:4489):
TGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCTTCTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAG
Y
GTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCCGCGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATG
Celera SNP ID:                hCV25934223
SNP Position Transcript:      150
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,37)  african american(C,29|T,9)  total(C,32|T,46)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:474, 31,(C,TGT) (R,CGT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|T,34)  african american(C,29|T,9)  total(C,33|T,43)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:474, 31,(C,TGT) (R,CGT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:474, 31,(C,TGT) (R,CGT)



Gene Number:                  90
Celera Gene:                  hCG2002352 - 62000133393029
Celera Transcript:            hCT2287131 - 62000133393075
Public Transcript Accession:
Celera Protein:               hCP1792185 - 197000064924826
Public Protein Accession:
Gene Symbol:                  LOC90799
Protein Name:                  hypothetical protein BC009518
Celera Genomic Axis:          GA_x5YUV32W3KM(322734..365972)
Chromosome:                   17
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:214):
TCTCTAAACTTCCCAAACCGCCCCCGTTTCACGTCCTGTGAAAGGAAGTGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCTT
CTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAGTGTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCCG
CGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATGCTGAGTGGGTAACCATTGCCAATAACCTTCTTTTTAAGTGTCATATACATC
TGAGAATACATGAACTTCAAGACTGTGATGCTAATGTTTTTATTGCTCTTTATCAGTCTATTTTGGGAGAAAAGGTACCAGACCTCATAGTTATTCCTAG
GAGTCAAGAAGATGATGCACACAATGTACAAGCAGTAATTGATTCACTGGCCTTGGACTACTTGCAGGTCAGCTTGTCTCACATAACAGGAGAAAATATA
GTGAAAGGAGATAAAGAATCTATTAAGAATCTCCTGGAAATATTTGATGGTTTGTTGGAGTATCTTACAGAACGCATCAGTGAAACATCTCATGAGAAAA
GTCTAATATATACTTACCTGGCAATATTTCCTAGAGCTGATCAGGTTCTTCAAAATGCCAGTTAACAGTAATGGGAAACAAATCTTTATTATCACTAATC
ATATCAGCTGTGCAGGGCAGCTTCAACCTGGGACCTGAGCTAGCATTATCATTTACCACTGAAGAAGGAGGGGTTCGAAGGAAGACCATGGGTTCAGTGC
TGGGTTCTTCCTCTCACTATATGATGGCAGCTCTCTAAGCCTGTTTTCTCATCTGAAATTCTTTCATGGTTGTTGTGAAAGTTAAGTAAGTAGATGTGTG
TAAACAGTTGGGCACACAGCCTAGCTCAGAGTAAATGCATAATAAATGTTAATTGATGTT


Protein Sequence     (SEQ ID NO:475):
MAGSDAEWVTIANNLLFKCHIHLRIHELQDCDANVFIALYQSILGEKVPDLIVIPRSQEDDAHNVQAVIDSLALDYLQVSLSHITGENIVKGDKESIKNL
LEIFDGLLEYLTERISETSHEKSLIYTYLAIFPRADQVLQNAS*



SNP Information


Context              (SEQ ID NO:4490):
TGCTCCTCTGATGACCAATCAGCGGCGAGAAGCTCTTTTAACGTCCGTCCTTCTTTCACGCCTCCTTCCCCGCGCTTTGGTTCGTGCGTCCGCGCCCCAG
Y
GTCGGGTCTGCGTGGATCGGTCCTTCCAGGACACCGTCGCCTTCCCGGCCGCGTCGGAGTCCGGCGGCGACCTGCCTCTGAAACATGGCAGGCTCGGATG
Celera SNP ID:                hCV25934223
SNP Position Transcript:      149
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,3|T,37)  african american(C,29|T,9)  total(C,32|T,46)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:475, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,4|T,34)  african american(C,29|T,9)  total(C,33|T,43)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:475, None

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:475, None



Gene Number:                  91
Celera Gene:                  hCG2006840 - 208000028116691
Celera Transcript:            hCT2294286 - 208000028116685
Public Transcript Accession:
Celera Protein:               hCP1887365 - 208000028116687
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VU87(6832533..6846730)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:215):
GCGACATATGCCAATGTGGCCATCTCGGGTGATTTAAAAGATTTGTTACCCTCTGCGTGCACTTATAGCCCAGGTATGTCCTGTCTCCCCTGGATGGCTG
ATTGGTGATTTTTAAAAGGGTTTCCATTGTGCTGTGGGAACCTGAAGGCATCAGAACGGGCTTTTGCTTGTTTGCTGTGTCATATTCTGTTCATTTAAAG
AGTAAAAGTGTGTGGTTGGTATTGTGGCCCATGTTGAGCCAAAGCAAAGAGTAAGCCACTGTCTGAAGCCCACCTACGTTGAATGTAATGAGGCTGAGAT
GAAAAGGATCTGCTACACTGAACACAGAACGTGGAGGTCTGGGCTAACCACACAAAATATGCTGTGTGCAGTGAACATTCACGCTGTACTCTTAGCCACA
TCCCGCACAAAAGACAGAGAGACAGCTCCCAGGAGATGGAGCATGTGTGGCAAAGATTTTCCGCCTGGTTACTTTGAAGAAAGCAAAAGGAGGCTGAAAC
TGTGCTTTGTAAGCTGCATGGGTTGGTGCTGGCTCCTGGACGTCAGTTCAGAACACTCAGGAGTGAAGGCAGAAACCTGGTGAGGGACTCCCAGGAGGAG
CTTCTTTCTCCACCTTTCAGCCTCTGGAGTTCAAATTTCACTCAACCTGAGTGCACCAAACCCCACCCTCTTATTTACATTGCCCTGGCCTTTTTGGCGG
AATCAAAGTCCCTACATAGCCAAGGAGATCTTTTACCTTCTACACTAGTGGGAGGCCAGGTGCCTGGGAGGGAGGTGGCACGCCCCCGCCCTCCTCTGGC
ATGCCACTGTCCTGCTGTGAAAGCCTGTGTCAAGGAAAACTGGGCTCAGAGGTGCAGACTGAGAGAGCCGCTGGGCTGTTTTGAAGGAAGGTAAGCAGAG
AGCATTTGTGTGTGTGTGTGTGTGCGCGCGCGTGCATATGTGTATGTGTGTCTGTGCCTGTGTGGTGAGTGTGTGTGTGCATGTGTGTGGCTTCTGTAAT
GCTACAAAGACCTGAAACTGAGCTGTGTGCCTGCTGAGATTTACCAACTTGCCAAGACTTCCAGAGGAAAAGAGCTGGTACTAGCCAGGAGGAGAGGGCG
TTATGGAGTGGAATAATCAGCAGAACGGATGCTTTAACCGGGCAAGAAGGAATGTCGCTCAGGACTTGTCCAGGAATGCCTTTATTGGTTTGCAAGCTGG
AGGAGTCTTAACTTACTGACTTCTTTTTGGGGAAGAGTCAGTGATGGTCTGACATGCTGTTTGCAAGCTCTCTGGCCGCCTCTGTGGCCAGCCGGCGTGG
GTGGCCTCAGATAAGGCCAACAGGACCTCCTCTTTTCCTCTGGGCTTGGGCCCCTGTGTTTTCAGTTAGGAGTGCCCAAAAGGGAACTGAGCTGCCCAGT
CAGGGGCCTGAGATAGGCGCCTGCTGAATGCTGAGCCTGCACCGGCGTGCTGGTGTGAGAGGTCTGCCCGGGGAGCCGCCCTGGCCTGCCCTGCTGTCAG
TGCGGCTGTGGGGGCACCTTGGCGGCGTCTGTGACACGCCTGCCACAGCCCCACTCGGAGCACAGTGCTCCTTTATCGCCACATTCCAGAGCCTCACCCA
GGAGACCGCGGGAGCGCTTGGAATCTGGCCCAGCTCCTGAGTCGCTCCTGCTCTGCAGTGGGATGCCTTCCCTTCCCAGAGAGGCAGTGTGTGGCTGGGC
AGGCGTTTCTGTGTGGAAGGTTCTGCTCTGGTTCTTGCTTTTGTTAATTTTTTTTCTGCTCTATATTTCTCTAAGAATTTACAGTCTGCCTCATTTTTAG
AAAGCGTGAGCAAGCAGCTCAGCTTTACTTCAGAGGGAGGGATTTTCCAGCGCCCTCCGGCAGTCTCAGCAAGGTGTCCTGGTGCTGCCGCTGCAGCCTC
TTTCCTGCTGGGCACCTCCCCTCCTGGCAGCTCAGAGGGTGATTTGGGTTTGGGGGCTTGGGAAGGAGTTAACTCTCAAGGTGAGACTGATGCACCAAGG
GAGCAATGCCTTAGAATGGAGTTATTCTGCCTAAGGAGAGAAAGAGTTGTCCCTACAGAGTAGAGTTTATTACCGTCTTTTATTTTTTGTAAAAACAAAA
ATAAAAAAAGAGGAAAAGGGCACATTTCATCGCGTCTTGAAATATATCAAAATCATAGAGTATCTGATTTAGTAGATTAAAAGCAGTGTTCTCAAAG


Protein Sequence     (SEQ ID NO:476):
MKRICYTEHRTWRSGLTTQNMLCAVNIHAVLLATSRTKDRETAPRRWSMCGKDFPPGYFEESKRRLKLCFVSCMGWCWLLDVSSEHSGVKAETW*


SNP Information


Context              (SEQ ID NO:4491):
TTATTTACATTGCCCTGGCCTTTTTGGCGGAATCAAAGTCCCTACATAGCCAAGGAGATCTTTTACCTTCTACACTAGTGGGAGGCCAGGTGCCTGGGAG
R
GAGGTGGCACGCCCCCGCCCTCCTCTGGCATGCCACTGTCCTGCTGTGAAAGCCTGTGTCAAGGAAAACTGGGCTCAGAGGTGCAGACTGAGAGAGCCGC
Celera SNP ID:                hCV185778
SNP Position Transcript:      771
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,1285|A,213) ; no_pop(G,3|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Context              (SEQ ID NO:4492):
CTGTGTCAAGGAAAACTGGGCTCAGAGGTGCAGACTGAGAGAGCCGCTGGGCTGTTTTGAAGGAAGGTAAGCAGAGAGCATTTGTGTGTGTGTGTGTGTG
Y
GCGCGCGTGCATATGTGTATGTGTGTCTGTGCCTGTGTGGTGAGTGTGTGTGTGCATGTGTGTGGCTTCTGTAATGCTACAAAGACCTGAAACTGAGCTG
Celera SNP ID:                hCV26837048
SNP Position Transcript:      925
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Context              (SEQ ID NO:4493):
GTGTCAAGGAAAACTGGGCTCAGAGGTGCAGACTGAGAGAGCCGCTGGGCTGTTTTGAAGGAAGGTAAGCAGAGAGCATTTGTGTGTGTGTGTGTGTGCG
Y
GCGCGTGCATATGTGTATGTGTGTCTGTGCCTGTGTGGTGAGTGTGTGTGTGCATGTGTGTGGCTTCTGTAATGCTACAAAGACCTGAAACTGAGCTGTG
Celera SNP ID:                hCV26837049
SNP Position Transcript:      927
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Context              (SEQ ID NO:4494):
CTGGAGGAGTCTTAACTTACTGACTTCTTTTTGGGGAAGAGTCAGTGATGGTCTGACATGCTGTTTGCAAGCTCTCTGGCCGCCTCTGTGGCCAGCCGGC
R
TGGGTGGCCTCAGATAAGGCCAACAGGACCTCCTCTTTTCCTCTGGGCTTGGGCCCCTGTGTTTTCAGTTAGGAGTGCCCAAAAGGGAACTGAGCTGCCC
Celera SNP ID:                hCV27485417
SNP Position Transcript:      1297
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,902|A,36) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Context              (SEQ ID NO:4495):
GCCTCAGATAAGGCCAACAGGACCTCCTCTTTTCCTCTGGGCTTGGGCCCCTGTGTTTTCAGTTAGGAGTGCCCAAAAGGGAACTGAGCTGCCCAGTCAG
R
GGCCTGAGATAGGCGCCTGCTGAATGCTGAGCCTGCACCGGCGTGCTGGTGTGAGAGGTCTGCCCGGGGAGCCGCCCTGGCCTGCCCTGCTGTCAGTGCG
Celera SNP ID:                hCV185781
SNP Position Transcript:      1404
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,5|A,4) ; no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Context              (SEQ ID NO:4496):
AGGGGCCTGAGATAGGCGCCTGCTGAATGCTGAGCCTGCACCGGCGTGCTGGTGTGAGAGGTCTGCCCGGGGAGCCGCCCTGGCCTGCCCTGCTGTCAGT
X
CGGCTGTGGGGGCACCTTGGCGGCGTCTGTGACACGCCTGCCACAGCCCCACTCGGAGCACAGTGCTCCTTTATCGCCACATTCCAGAGCCTCACCCAGG
Celera SNP ID:                hCV185782
SNP Position Transcript:      1502
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,5|T,4) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:476, None



Gene Number:                  92
Celera Gene:                  hCG2006841 - 208000028117691
Celera Transcript:            hCT2294287 - 208000028117685
Public Transcript Accession:
Celera Protein:               hCP1887374 - 208000028117687
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VU87(6877154..6891628)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:216):
TTTCTGCTACAGACAGGCCAGGGACTTAGACACAAATGGCGAGGGATGAGGAGCTTGATGACGTGTCAAGGGGGATTAGATATCAAGTGTGGGGGATGAA
AAGCAGGATTCTTGCTGGAACTGAGCTTGCCACGGTTGGACGTGGAAGGCCAATGTTGAGGCCTAGTGGAGAAGAGGGCTTGGAGGAGCCTGGCTAAGGT
TTGGTCAAGGAGAGTCTGTCACAAGATAGACCCATCTGTATCCAGGCTAACGCAATAGGGTGACCAAATGCAGCCCGCACGCTTCTCTGTGTTTCTCTCC
AGGTCCTTTGGGCACTTAGTTTATAATTTTTTATTTTCTATTTTTTATTTTTATGGGTACATAGTATAGGTGTGTATGGAGTACATGAGATGTTTTGATA
CAGGCATGCAATGTGTAATAATCACATCATGGAAAACAGGGTATTATGGGCACTTAGTTTAGCCATAAGGCTTCCGTGCCAAGTGGCCTGGGAGCCAGCT
GGGGCCAGCTTCTGCCACAGGCATCCTTCACCCACCCTTCTCACAAACAAGCGATTCTTCAATAAACAATAAACAGAATACACAAAAAGCAAACCAAAAC
ATCTCTAGATTTATTAATAGATGGGTGAATTAAAGGAGTCTTTTCCAAATAATGTGACTAACAGAAGCCAAGGGGGATGAATGCCCAAAGCTGGGGCTTG
CCAGAACCTGCTGGTACCGAGAGCTGATTGCTGAAGTGTGAGGAATTTTGTGAGCCAGCTGACAGCACATTGGCAGCTTGGGATCTGCCAGGGCGGGATT
GTTTACACCACAGGATTTAGCAAACGTTATGAATCAACCCCTCCATCGGCCCCAAGCTTCCCTGACACACCAAACAGTAGAAATTCACTGCCTTTTTTTT
TTTTTTTTTTAACTCTGCTTGGTGTTAGCTAACTAGTCATGAAGAATAGAGGCTGAAGTGACCAAAGAGATCTTTCTGCATTTTGACATTCAAATATTTG
GAAAGATTTTCCGCATTCAGCATTTGGATTCTAGTCCCATTGCCAGGCTCAAGTAAGCTCTGTGATAACAACACTCAGCTGTTGGAAACTGCTGTCCGAA
GCATCTCTCAGCAGATAGGGAGGCCTAAAAGGACACGGCAGAGTGGTGTCTGGTGGGTCCTCTCCTGACATTTCTTCTCTCTCTGGTCAAATGCTGGATG
CACACATATAGTGGCTCTGAGACTTCCTATCTGGGTGAGCTCAGGCAGTTCTAGGGACCTCTCTGAGCCCTAGTTTCATGTCCTGTACAACAGTAGTCAT
TCCTACTGCACATGGTTCTTGAGAAGATTGGACCAGAACATGTAGCTCTGGCTCCTGGCCCAGACCTGATCAACACTCAGCAAATAGTGGACACTGATGC
TGTTAGGAGAACAGAGCATCCATATGAAGGGCGGTTCCCTGAGCTGGGGAGACCAGTGACAACTGTAAGTCTGGGTTCAGAGCATGAGTCGGGGGACGGA
GAAGGCCCCTGGGCATCTGGCCCTGGGTGGCTGAGCCCTGGGAATCCTGCTTTTCCCAGAGATGTGCTTGTGCCCAGTGTGCTCATGTTTTAAATGCCAG
CACCTACTCCAGGAAAATGATGGGTATTTCAATATCTGCTCACATTATGCATATTTAAATATGAATTTAAATACTGTTTAATTCTCCTAGGGATGTGTTG
TCATTTAAAAGAGGTTGTGATTAGCATGAAGGACTGGGGACAGGAGCAGGAGATGGCAGAGCAGCTGTAGGCACTGATGTAATGCCTCCAGCTTTATGAG
GACGGGCCCAACCAGGCTTCACCCATTTGGGGCCCTCAAGCGGGAGCGTCAGTGGCAGCCCTCGCCATCGTCCGTCTGTTGAATGTATTGCCACATGGCC
ACATTATGCCCCAGGAGCCATGTGTTGGAGGACAGTATCCTTAGGCTTCTCAGAAATTCCACATGGGAGCCTCAAATGGACATGCTTTTCTTGAAAACAA
AAATATTTGTAAAAATGTAACAATGGGAGTCGTTTAATCTCAAGTCTCCCCTATAAGCAAAAATAGATAAAATTATGAAATGTAAGATGTAAATTATTCT
GTTTCTTAGCTGATCCTTAATCTTGATGATATTTTCAAAACAAATGAATAATAAAGACATGAGAAAAGGTTTCCTTTAAAAAGTCGTGGTTCTCGCCAGG
CGCAGTGGCTCATGCCTGTAATCCCAGCACCTTAGGAGGCCAAGGCAGGCGGATCATGAGGTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACC
CTGTCTCTACTAAAAATGCAAGAATTAGCTGGGCATGGTGGCGCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGATTTAAATACTGTTTGAA
CCCAGGAGGCGGAGGTTGCATGAGCCGAGATCGCACCACTGTACTGCAGCCTGACAACAGAGTGAGACTCTGTC


Protein Sequence     (SEQ ID NO:477):
MVLEKIGPEHVALAPGPDLINTQQIVDTDAVRRTEHPYEGRFPELGRPVTTVSLGSEHESGDGEGPWASGPGWLSPGNPAFPRDVLVPSVLMF*


SNP Information


Context              (SEQ ID NO:4497):
TTGTGAGCCAGCTGACAGCACATTGGCAGCTTGGGATCTGCCAGGGCGGGATTGTTTACACCACAGGATTTAGCAAACGTTATGAATCAACCCCTCCATC
R
GCCCCAAGCTTCCCTGACACACCAAACAGTAGAAATTCACTGCCTTTTTTTTTTTTTTTTTTAACTCTGCTTGGTGTTAGCTAACTAGTCATGAAGAATA
Celera SNP ID:                hCV11227108
SNP Position Transcript:      848
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,7|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:477, None



Context              (SEQ ID NO:4498):
TGCTGTTAGGAGAACAGAGCATCCATATGAAGGGCGGTTCCCTGAGCTGGGGAGACCAGTGACAACTGTAAGTCTGGGTTCAGAGCATGAGTCGGGGGAC
R
GAGAAGGCCCCTGGGCATCTGGCCCTGGGTGGCTGAGCCCTGGGAATCCTGCTTTTCCCAGAGATGTGCTTGTGCCCAGTGTGCTCATGTTTTAAATGCC
Celera SNP ID:                hCV236670
SNP Position Transcript:      1498
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,5|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:477, 63,(G,GGA) (R,AGA)



Context              (SEQ ID NO:4499):
ACGGCAGAGTGGTGTCTGGTGGGTCCTCTCCTGACATTTCTTCTCTCTCTGGTCAAATGCTGGATGCACACATATAGTGGCTCTGAGACTTCCTATCTGG
R
TGAGCTCAGGCAGTTCTAGGGACCTCTCTGAGCCCTAGTTTCATGTCCTGTACAACAGTAGTCATTCCTACTGCACATGGTTCTTGAGAAGATTGGACCA
Celera SNP ID:                hCV29250529
SNP Position Transcript:      1235
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,16|G,104)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:477, None



Context              (SEQ ID NO:4500):
TGGGGCCCTCAAGCGGGAGCGTCAGTGGCAGCCCTCGCCATCGTCCGTCTGTTGAATGTATTGCCACATGGCCACATTATGCCCCAGGAGCCATGTGTTG
K
AGGACAGTATCCTTAGGCTTCTCAGAAATTCCACATGGGAGCCTCAAATGGACATGCTTTTCTTGAAAACAAAAATATTTGTAAAAATGTAACAATGGGA
Celera SNP ID:                hCV8325821
SNP Position Transcript:      1928
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:477, None



Gene Number:                  93
Celera Gene:                  hCG2006842 - 208000028118764
Celera Transcript:            hCT2294288 - 208000028118765
Public Transcript Accession:  NM_022748
Celera Protein:               hCP1887368 - 208000028118750
Public Protein Accession:     NP_073585
Gene Symbol:                  TENS1
Protein Name:                  tensin-like SH2 domain containing 1
Celera Genomic Axis:          GA_x5YUV32VU87(6632093..6951121)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:217):
CCGGCAGCCAGCCAGGAGGACGGGCCCGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGC
CGGAAGAATTAACCTCGAGTCTGCACGCTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTAT
TTCATGCCGAGCCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGCAGAGCCTTCCACCTCCTTCTCTGGGCCCCGCTCCCAAGCTCCCCAAGCA
CGGACCGACTCAGAGGTTTCCATCCTTGAGGTCTACCAGTTCTTTGAAGCAGAGAGAAGAGTTTCAAGGATCCTGTTAGATCAGCATCCAGGTGTTCCAT
TTGGTCAGAAGAGCCAAACTCAACATCTGTGGCTTTGGCAAAAGTCAGGCTCCAGGGAGTTCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTGC
GGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTC
TGAGGAGTCCTACCTGCACAACCTACAGGAGGTCACGCGCATGCTCAAGTCCAAGCACGGGGACAACTACCTGGTATTAAACCTTTCAGAAAAGAGATAT
GACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCGCCCCTGGATAAGATGTGTACCATATGCAAGGCGCAGGAGT
CCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGACGCATAGGAGTGGTCATATCATCCTACATGCATTTCACCAA
CGTCTCAGCCAGCGCCGACCAGGCCCTTGACAGGTTTGCAATGAAGAAGTTTTATGATGACAAAGTTTCAGCTTTAATGCAGCCTTCCCAAAAACGGTAT
GTTCAGTTCCTCAGTGGGCTCCTGTCCGGATCGGTGAAAATGAATGCCTCTCCCCTGTTCCTGCATTTTGTCATCCTCCACGGCACCCCCAACTTCGACA
CAGGTGGAGTGTGCCGGCCCTTTCTGAAGCTCTACCAAGCCATGCAGCCTGTGTACACCTCCGGGATCTACAACGTTGGCCCAGAAAACCCCAGCAGGAT
CTGCATCGTCATCGAGCCGGCCCAGCTTCTGAAGGGAGATGTCATGGTGAAATGCTACCACAAGAAATACCGCTCGGCCACCCGTGACGTCATTTTCCGC
CTGCAGTTTCACACTGGGGCTGTGCAGGGCTACGGGCTGGTGTTTGGGAAGGAGGATCTGGACAATGCCAGCAAAGATGACCGTTTTCCTGACTATGGGA
AGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTCCGAACACTTGTACAACGACCACGGTGTGATTGTGGACTACAACACAACAGACCC
ACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAGTGCTACACACGCAGGGCCCTGTCGATGGCAGCCTTTACGCGAAGGTGAGGAAG
AAAAGCTCCTCGGATCCTGGCATCCCAGGTGGCCCCCAGGCAATCCCGGCCACCAACAGCCCAGACCACAGTGACCACACCTTGTCTGTCAGCAGTGACT
CCGGCCACTCTACAGCCTCTGCCAGGACGGATAAGACGGAAGAGCGCCTGGCCCCAGGAACCAGGAGGGGCCTGAGTGCCCAGGAGAAGGCTGAGTTGGA
CCAGCTGCTCAGTGGCTTTGGCCTGGAAGATCCTGGAAGCTCCCTCAAGGAAATGACTGATGCTCGAAGCAAGTACAGTGGGACCCGCCACGTGGTGCCA
GCCCAGGTTCACGTGAATGGAGACGCTGCTCTGAAGGATCGGGAGACAGACATTCTGGATGACGAGATGCCCCACCACGACCTGCACAGTGTGGACAGCC
TTGGGACCCTGTCCTCCTCGGAAGGGCCTCAGTCGGCCCACCTGGGTCCCTTCACCTGCCACAAGAGCAGCCAGAACTCACTCCTATCTGACGGTTTTGG
CAGCAACGTTGGTGAAGATCCGCAGGGCACCCTCGTTCCGGACCTGGGCCTTGGCATGGACGGCCCCTATGAGCGGGAGCGGACTTTTGGGAGTCGAGAG
CCCAAGCAGCCCCAGCCCCTGCTGAGAAAGCCCTCAGTGTCCGCCCAGATGCAGGCCTATGGGCAGAGCAGCTACTCCACACAGACCTGGGTGCGCCAGC
AGCAGATGGTTGTAGCTCACCAGTATAGCTTCGCCCCAGATGGGGAGGCCCGGCTGGTGAGCCGCTGCCCTGCAGACAATCCTGGCCTCGTCCAGGCCCA
GCCCAGAGTGCCACTCACCCCCACCCGAGGGACCAGCAGTAGGGTGGCTGTCCAGAGGGGTGTAGGCAGTGGGCCACATCCCCCTGACACACAGCAGCCC
TCTCCCAGCAAAGCGTTCAAACCCAGGTTTCCAGGAGACCAGGTTGTGAATGGAGCCGGCCCAGAGCTGAGCACAGGCCCCTCCCCAGGCTCGCCCACCC
TGGACATCGACCAGTCCATCGAGCAGCTCAACAGGCTGATCCTGGAGCTGGATCCCACCTTCGAGCCCATCCCTACCCACATGAACGCCCTCGGTAGCCA
GGCCAATGGCTCTGTGTCTCCAGACAGCGTGGGAGGTGGGCTCCGGGCAAGCAGCAGGCTGCCTGACACAGGAGAGGGCCCCAGCAGGGCCACCGGGCGG
CAAGGCTCCTCTGCTGAACAGCCCCTGGGCGGGAGACTCAGGAAGCTGAGCCTGGGGCAGTACGACAACGATGCTGGGGGGCAGCTGCCCTTCTCCAAAT
GTGCATGGGGAAAGGCTGGTGTGGACTATGCCCCAAACCTGCCGCCATTCCCCTCACCAGCGGACGTCAAAGAGACGATGACCCCTGGCTATCCCCAGGA
CCTCGATATTATCGATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGCATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACAGCG
CTGCGCCATCCTCCGTTCAGCCCACCTGAGCCCCCGCTGAGCAGCCCAGCCAGTCAGCACAAAGGAGGACGTGAACCACGAAGCTGCCCTGAGACGCTCA
CTCACGCTGTGGGGATGTCAGAGAGCCCCATCGGACCCAAATCCACGATGCTCCGGGCTGATGCGTCCTCGACGCCCTCCTTTCAGCAGGCTTTTGCTTC
TTCCTGCACCATTTCCAGCAACGGCCCTGGGCAGAGGAGAGAGAGCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCC
CTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGC
TCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCC
AGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGG
GCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGCCAGGGTGTGACCCTGC
CCGGGCAGCCACCCCTCCCTGAGAAGAAGCGGGCCTCGGAGGGGGATCGTTCTTTGGGCTCAGTCTCTCCCTCCTCCAGTGGCTTCTCCAGCCCGCACAG
CGGGAGCACCATCAGTATCCCCTTCCCAAATGTCCTTCCCGACTTTTCCAAGGCTTCAGAAGCGGCCTCACCTCTGCCAGATAGTCCAGGTGATAAACTT
GTGATCGTGAAATTTGTTCAAGACACTTCCAAGTTCTGGTACAAGGCGGATATTTCAAGAGAACAAGCCATCGCCATGTTGAAGGACAAGGAGCCGGGCT
CATTCATTGTTCGAGACAGCCATTCCTTCCGAGGGGCCTATGGCCTGGCCATGAAGGTGGCCACGCCCCCACCTTCAGTCCTGCAGCTGAACAAGAAAGC
TGGAGATTTGGCCAATGAACTCGTCCGGCACTTTTTGATCGAGTGTACCCCGAAGGGAGTGCGGTTGAAAGGGTGCTCGAATGAACCATATTTCGGGAGC
CTGACGGCCTTGGTGTGCCAGCATTCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTT
CTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGG
CCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGTCCACAGTTGTGCACTTCAAGGTGTCAGCCCAGGGCATCACC
CTGACAGACAATCAGAGGAAGCTCTTCTTCCGGAGGCATTACCCCGTGAACAGTGTGATTTTCTGTGCCTTGGACCCACAAGACAGGAAGTGGATCAAAG
ATGGCCCTTCCTCAAAAGTCTTTGGATTTGTGGCCCGGAAGCAGGGCAGTGCCACGGATAATGTGTGCCACCTGTTTGCAGAGCATGACCCTGAGCAGCC
TGCCAGTGCCATTGTCAACTTCGTATCAAAGGTCATGATTGGTTCCCCAAAGAAGGTCTGAGAACTCCCCTCCCTCCCTGGACCCACCGATGCCTCTCGA
AGCCCTGGAGACAGCCGTTGGGTGAGGGTGGGGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAG
CTCTGCAAAAACAAGAACAAACAACATCACCGTGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAG
AAGCTGGGCATGGGTGCACCCCACCCCCTAGGGTCCCCATGGGAAAGGGACATGCAAGGAAACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCAC
ACTAGCATTCCGGGGGATGAGGAATCCCCAGCCCTTGAGGCAGAGGTGCCGAGTGACTGCCATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGC
ACCCGAGGCCGGGGGTTTCCCTCACCTCGGTCTTCCCAAGATGGAGATGCTAACGAAACTGAGAAGGGGGCGTATGTTTGACGAAGGTTTGTGCAAGTCA
GGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGGCCTTTGCGATGGGCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATG
CCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAGCTGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGG
ACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATTATTTCTATGTAATTTATATTTTACTTATGCCAAATTATTTATGATAATTTGCCATTGCTATAC
TGTACCAGTGTCAAATGCTGCAGCCTGCCAAGCTGTGATTTTGTGAGGCTTGTCCCTATGTAGGATGCACCGCAGGCCCCTGGCCACTGAAAGAGTGTGC
AGTGGACTGTGGGTCTCCCATATGCGGTGCCGCCCAAAGGTGGCTTTGCCTCAAGCAACCTACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATT
GTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAGGGATGGAAAACGCCTGGATTTAAGCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGG
CCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTGTGCTGCTCCTTGCCACCTTGGGGTTCCTGCTGGGGACCATGTGTGGTTGTG
GCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGA
ATCAAGTGTATTTCAGGCTTATTTCAACATTCCAATGCCCTGGTTTTCCTGCTTGAATCTGTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAA
CATCCCCAGAGTGAAAGATGGAGCTGGGCCACATCAGAATAAGGCCTTGGCCCCATCCTCTCACAGCCTAGGTGCTCTGCAGGCATGCTGACTGTCCTGA
TTGCGATCCAGCCCGAAATTCCCTCCTCTGCTTTCAAAAGTCAAATCCCCCATTCTTAGGCCACACTGGTGTCACAAGCTCCTGTCAGGGAGCTGGGGTT
TGGGAATGTGCTTTGTGAACTCTGCTTTAAAGTGAGGGGCCGAGGAAAACTTAGAAACAGGCAGAGTTGGAAGCAGCCAAATCACAGTGGGTGTTGTGTG
TGTGTGCGTGTGTGCATGCGTGCGTGTATGCGTGTGTGAAAGCAGGTGGACCATTCCACTTTTTAGCTCCTATTGATGCACCAAACCAAGTGCCTCATTT
CTGTGCCAAATGTTTGCCTTGGTCGTTGTGGACCTCCTTCTCTAACTTGCGGTGGCATGACTGTCAGGAGGTGCTGGCATTTTCAGCAGATCCTCATGTG
TTGACCCTGATGTCTTTAGCAGAGGCCTCTAGCATCTCGGTTTTTCATCCACTGCAGGAATGTGGCCACAGGGAGCAGAGGTTTGTACTTTCCCCAAGAG
GTCCTCATCCTGAGACGGTCTCTACCCATGTTTAACCCAAAGAGTGCAGGCCAGGTTCCTTATCCTTCTGATGAAGGATGAGAGAGCTCATTTAGAAGTC
AGAGCAAACTAGGGTCTCAGTATTGAGAAACGCAGCCTGCCAGGGAATCACAGAGACATCGGGGTGCCCGCGATGGCCCTCATGAAGCCATGCCTCGACG
GCATTCAGGAAGCCCTGCAAACGTGCTTTTTGAACTCATTGGCCAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCA
AGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCACGATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCA
TTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGCTCAGAAACCGTGAGAGAGCCCCCACCGTGGACACCGGCTCTAGGGCCACAGGAAAA
GGAACGTTTCCAGGCATTTTGTCTCCAGGGCTCCCGCTGGACAGGCACGTACTGCCCTGGGGAGTAAATGCGGAGAGTTCACGAACTGTGCCCAACGCAT
GTTATAGCCAGGGTCCTACTAACTACTCAGTAAAAGAACGTATTGTTGTATTCCTCCAGTGTTAAGCTATAGCCATGTTAAAAGTCACTGTGCATTTATT
CTCAGCATCAAATACCTTGTAACGTCTTCTCTGCCTTGTTAGTGCATATTTTTACTTTTCTGATACTGTAAAGAATATATCCAGTATGTAAATGAATGTT
CTATAAATCTTTTGTATAGTCATTTTCTCTGCTCCTTAAATATCATCTCTATTCAGAGTATAATAAAATTATGAACTTGGTAAGCCTCCGTGAGACGGT


Protein Sequence     (SEQ ID NO:478):
MEEGHGLDLTYITERIIAVSFPAGCSEESYLHNLQEVTRMLKSKHGDNYLVLNLSEKRYDLTKLNPKIMDVGWPELHAPPLDKMCTICKAQESWLNSNLQ
HVVVIHCRGGKGRIGVVISSYMHFTNVSASADQALDRFAMKKFYDDKVSALMQPSQKRYVQFLSGLLSGSVKMNASPLFLHFVILHGTPNFDTGGVCRPF
LKLYQAMQPVYTSGIYNVGPENPSRICIVIEPAQLLKGDVMVKCYHKKYRSATRDVIFRLQFHTGAVQGYGLVFGKEDLDNASKDDRFPDYGKVELVFSA
TPEKIQGSEHLYNDHGVIVDYNTTDPLIRWDSYENLSADGEVLHTQGPVDGSLYAKVRKKSSSDPGIPGGPQAIPATNSPDHSDHTLSVSSDSGHSTASA
RTDKTEERLAPGTRRGLSAQEKAELDQLLSGFGLEDPGSSLKEMTDARSKYSGTRHVVPAQVHVNGDAALKDRETDILDDEMPHHDLHSVDSLGTLSSSE
GPQSAHLGPFTCHKSSQNSLLSDGFGSNVGEDPQGTLVPDLGLGMDGPYERERTFGSREPKQPQPLLRKPSVSAQMQAYGQSSYSTQTWVRQQQMVVAHQ
YSFAPDGEARLVSRCPADNPGLVQAQPRVPLTPTRGTSSRVAVQRGVGSGPHPPDTQQPSPSKAFKPRFPGDQVVNGAGPELSTGPSPGSPTLDIDQSIE
QLNRLILELDPTFEPIPTHMNALGSQANGSVSPDSVGGGLRASSRLPDTGEGPSRATGRQGSSAEQPLGGRLRKLSLGQYDNDAGGQLPFSKCAWGKAGV
DYAPNLPPFPSPADVKETMTPGYPQDLDIIDGRILSSKESMCSTPAFPVSPETPYVKTALRHPPFSPPEPPLSSPASQHKGGREPRSCPETLTHAVGMSE
SPIGPKSTMLRADASSTPSFQQAFASSCTISSNGPGQRRESSSSAERQWVESSPKPMVSLLGSGRPTGSPLSAEFSGTRKDSPVLSCFPPSELQAPFHSH
ELSLAEPPDSLAPPSSQAFLGFGTAPVGSGLPPEEDLGALLANSHGASPTPSIPLTATGAADNGFLSHNFLTVAPGHSSHHSPGLQGQGVTLPGQPPLPE
KKRASEGDRSLGSVSPSSSGFSSPHSGSTISIPFPNVLPDFSKASEAASPLPDSPGDKLVIVKFVQDTSKFWYKADISREQAIAMLKDKEPGSFIVRDSH
SFRGAYGLAMKVATPPPSVLQLNKKAGDLANELVRHFLIECTPKGVRLKGCSNEPYFGSLTALVCQHSITPLALPCKLLIPERDPLEEIAESSPQTAANS
AAELLKQGAACNVWYLNSVEMESLTGHQAIQKALSITLVQEPPPVSTVVHFKVSAQGITLTDNQRKLFFRRHYPVNSVIFCALDPQDRKWIKDGPSSKVF
GFVARKQGSATDNVCHLFAEHDPEQPASAIVNFVSKVMIGSPKKV*



SNP Information


Context              (SEQ ID NO:4501):
TGAGAAAGCCCTCAGTGTCCGCCCAGATGCAGGCCTATGGGCAGAGCAGCTACTCCACACAGACCTGGGTGCGCCAGCAGCAGATGGTTGTAGCTCACCA
S
TATAGCTTCGCCCCAGATGGGGAGGCCCGGCTGGTGAGCCGCTGCCCTGCAGACAATCCTGGCCTCGTCCAGGCCCAGCCCAGAGTGCCACTCACCCCCA
Celera SNP ID:                hCV15970771
SNP Position Transcript:      2323
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1221|C,259) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 600,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:4502):
TCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAG
Y
AGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTG
Celera SNP ID:                hCV25649537
SNP Position Transcript:      4425
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1301,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4503):
CCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCG
R
CCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCC
Celera SNP ID:                hCV25649511
SNP Position Transcript:      3671
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,28)  african american(G,3|A,31)  total(G,3|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1050,(T,ACC) (A,GCC)



Context              (SEQ ID NO:4504):
AGAGATATGACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCGCCCCTGGATAAGATGTGTACCATATGCAAGGC
R
CAGGAGTCCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGACGCATAGGAGTGGTCATATCATCCTACATGCATT
Celera SNP ID:                hCV25936730
SNP Position Transcript:      793
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 90,(A,GCG) (A,GCA)



Context              (SEQ ID NO:4505):
TGATCCTGGAGCTGGATCCCACCTTCGAGCCCATCCCTACCCACATGAACGCCCTCGGTAGCCAGGCCAATGGCTCTGTGTCTCCAGACAGCGTGGGAGG
Y
GGGCTCCGGGCAAGCAGCAGGCTGCCTGACACAGGAGAGGGCCCCAGCAGGGCCACCGGGCGGCAAGGCTCCTCTGCTGAACAGCCCCTGGGCGGGAGAC
Celera SNP ID:                hCV16019051
SNP Position Transcript:      2737
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,651|C,469) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 738,(G,GGT) (G,GGC)



Context              (SEQ ID NO:4506):
TTTGGTCAGAAGAGCCAAACTCAACATCTGTGGCTTTGGCAAAAGTCAGGCTCCAGGGAGTTCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTG
Y
GGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTC
Celera SNP ID:                hCV25932158
SNP Position Transcript:      500
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,10|C,22)  total(T,18|C,54)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4507):
CTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTC
Y
CCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGA
Celera SNP ID:                hCV25649499
SNP Position Transcript:      3449
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|C,0)  african american(T,32|C,2)  total(T,52|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 976,(S,TCC) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,26|C,2)  total(T,66|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 976,(S,TCC) (P,CCC)



Context              (SEQ ID NO:4508):
CGGTCAAGGTATTTCATGCCGAGCCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGCAGAGCCTTCCACCTCCTTCTCTGGGCCCCGCTCCCAA
R
CTCCCCAAGCACGGACCGACTCAGAGGTTTCCATCCTTGAGGTCTACCAGTTCTTTGAAGCAGAGAGAAGAGTTTCAAGGATCCTGTTAGATCAGCATCC
Celera SNP ID:                hCV29250497
SNP Position Transcript:      289
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4509):
GCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGA
R
TTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCAC
Celera SNP ID:                hCV25649500
SNP Position Transcript:      3445
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,15|A,5)  african american(G,29|A,5)  total(G,44|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 974,(E,GAG) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,6)  african american(G,29|A,3)  total(G,61|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 974,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2624|A,356) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 974,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4510):
ATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGCATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACAGCGCTGCGCCATCCTCC
R
TTCAGCCCACCTGAGCCCCCGCTGAGCAGCCCAGCCAGTCAGCACAAAGGAGGACGTGAACCACGAAGCTGCCCTGAGACGCTCACTCACGCTGTGGGGA
Celera SNP ID:                hCV25649522
SNP Position Transcript:      3115
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,3)  african american(G,37|A,1)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 864,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 864,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4511):
TGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCC
R
AGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTC
Celera SNP ID:                hCV27504055
SNP Position Transcript:      3623
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,746|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1034,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4512):
GGGTGTAGGCAGTGGGCCACATCCCCCTGACACACAGCAGCCCTCTCCCAGCAAAGCGTTCAAACCCAGGTTTCCAGGAGACCAGGTTGTGAATGGAGCC
R
GCCCAGAGCTGAGCACAGGCCCCTCCCCAGGCTCGCCCACCCTGGACATCGACCAGTCCATCGAGCAGCTCAACAGGCTGATCCTGGAGCTGGATCCCAC
Celera SNP ID:                hCV29250523
SNP Position Transcript:      2558
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 679,(G,GGC) (S,AGC)



Context              (SEQ ID NO:4513):
TTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAA
Y
GTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGT
Celera SNP ID:                hCV419742
SNP Position Transcript:      4459
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,7|C,19)  total(T,10|C,36)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 1312,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1862|T,718) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-) ; no_pop(C,5
00|T,172)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 1312,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4514):
GCAGTGACTCCGGCCACTCTACAGCCTCTGCCAGGACGGATAAGACGGAAGAGCGCCTGGCCCCAGGAACCAGGAGGGGCCTGAGTGCCCAGGAGAAGGC
W
GAGTTGGACCAGCTGCTCAGTGGCTTTGGCCTGGAAGATCCTGGAAGCTCCCTCAAGGAAATGACTGATGCTCGAAGCAAGTACAGTGGGACCCGCCACG
Celera SNP ID:                hCV11327817
SNP Position Transcript:      1792
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,878|T,704) ; no_pop(A,2|T,3) ; no_pop(A,-|T,-) ; no_pop(A,-|T
,116)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 423,(A,GCT) (A,GCA)



Context              (SEQ ID NO:4515):
GGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCC
M
GCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGC
Celera SNP ID:                hCV25649510
SNP Position Transcript:      3684
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,26|A,2)  total(C,50|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1054,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,34|A,2)  total(C,58|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1054,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,27|A,1)  total(C,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 1054,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:4516):
AAATGTGCATGGGGAAAGGCTGGTGTGGACTATGCCCCAAACCTGCCGCCATTCCCCTCACCAGCGGACGTCAAAGAGACGATGACCCCTGGCTATCCCC
M
GGACCTCGATATTATCGATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGCATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACA
Celera SNP ID:                hCV25649524
SNP Position Transcript:      2997
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|A,31)  african american(C,0|A,36)  total(C,1|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 825,(Q,CAG) (P,CCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|A,39)  african american(C,0|A,38)  total(C,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:478, 825,(Q,CAG) (P,CCG)



Context              (SEQ ID NO:4517):
TGTTAGATCAGCATCCAGGTGTTCCATTTGGTCAGAAGAGCCAAACTCAACATCTGTGGCTTTGGCAAAAGTCAGGCTCCAGGGAGTTCCACGCTGTCCA
R
TTCTCTCTGCCGTGATAAACCTCTGCGGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATC
Celera SNP ID:                hCV25932185
SNP Position Transcript:      474
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,7)  total(G,59|A,15)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4518):
GGAAGGAGGATCTGGACAATGCCAGCAAAGATGACCGTTTTCCTGACTATGGGAAGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTC
Y
GAACACTTGTACAACGACCACGGTGTGATTGTGGACTACAACACAACAGACCCACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAG
Celera SNP ID:                hCV128427
SNP Position Transcript:      1447
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(C,7|T,3) ; no_pop(C,322|T,26)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:478, 308,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4519):
CGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGCCGGAAGAATTAACCTCGAGTCTGCAC
R
CTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCATGCCGAGCCTGCAAGTATTCCTG
Celera SNP ID:                hCV1374159
SNP Position Transcript:      127
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,10)  african american(G,22|A,16)  total(G,50|A,26)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,18|A,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4520):
AGGGTGGGGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAA
Y
ATCACCGTGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACC
Celera SNP ID:                hCV156587
SNP Position Transcript:      5025
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,173|C,1319) ; no_pop(T,3|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4521):
GGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAACATCACC
K
TGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACCCCCTAGG
Celera SNP ID:                hCV156588
SNP Position Transcript:      5032
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,3|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4522):
TGGGTGCACCCCACCCCCTAGGGTCCCCATGGGAAAGGGACATGCAAGGAAACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCACACTAGCATTC
Y
GGGGGATGAGGAATCCCCAGCCCTTGAGGCAGAGGTGCCGAGTGACTGCCATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGCACCCGAGGCCG
Celera SNP ID:                hCV27470176
SNP Position Transcript:      5211
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,1086|T,1294) ; no_pop(C,-|T,-) ; no_pop(C,97|T,21)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4523):
TTGTGCAAGTCAGGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGGCCTTTGCGATGGGCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTT
R
GAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAGCTGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAG
Celera SNP ID:                hCV27494880
SNP Position Transcript:      5489
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,423|A,1069) ; no_pop(G,-|A,-) ; no_pop(G,41|A,63)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4524):
GCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAG
Y
TGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGGACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATTATTTCTATGTAAT
Celera SNP ID:                hCV27471727
SNP Position Transcript:      5550
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4525):
CCTCAAGCAACCTACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATTGTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAGGGATGGAAAAC
K
CCTGGATTTAAGCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTG
Celera SNP ID:                hCV27467112
SNP Position Transcript:      5949
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,38|G,54) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4526):
TCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTGTGCTGCTCCTTGCCACCTTGGGGTTCCTGCTGGGGACCAT
S
TGTGGTTGTGGCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCT
Celera SNP ID:                hCV29923718
SNP Position Transcript:      6090
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4527):
AGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGAATCAAGTGTATTTCAGGCTTATTTC
W
ACATTCCAATGCCCTGGTTTTCCTGCTTGAATCTGTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAACATCCCCAGAGTGAAAGATGGAGCTG
Celera SNP ID:                hCV11326848
SNP Position Transcript:      6226
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Context              (SEQ ID NO:4528):
CAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCA
Y
GATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGC
Celera SNP ID:                hCV8325581
SNP Position Transcript:      7244
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:478, None



Gene Number:                  93
Celera Gene:                  hCG2006842 - 208000028118764
Celera Transcript:            hCT2294289 - 208000028118808
Public Transcript Accession:
Celera Protein:               hCP1887369 - 208000028118748
Public Protein Accession:
Gene Symbol:                  TENS1
Protein Name:                  tensin-like SH2 domain containing 1
Celera Genomic Axis:          GA_x5YUV32VU87(6632093..6951121)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:218):
CAGTCCTTCCAGCTTGAGCACTGCACTCGACTCATGAACCACGAAGCTGCCCTGAGACGCTCACTCACGCTGTGGGGATGTCAGAGAGCCCCATCGGACC
CAAATCCACGATGCTCCGGGCTGATGCGTCCTCGACGCCCTCCTTTCAGCAGGCTTTTGCTTCTTCCTGCACCATTTCCAGCAACGGCCCTGGGCAGAGG
AGAGAGAGCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCA
GCGCTGAGTTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGC
AGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGG
GCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCA
CGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGCCAGGGTGTGACCCTGCCCGGGCAGCCACCCCTCCCTGAGAAGAAGCGGGCCTC
GGAGGGGGATCGTTCTTTGGGCTCAGTCTCTCCCTCCTCCAGTGGCTTCTCCAGCCCGCACAGCGGGAGCACCATCAGTATCCCCTTCCCAAATGTCCTT
CCCGACTTTTCCAAGGCTTCAGAAGCGGCCTCACCTCTGCCAGATAGTCCAGGTGATAAACTTGTGATCGTGAAATTTGTTCAAGACACTTCCAAGTTCT
GGTACAAGGCGGATATTTCAAGAGAACAAGCCATCGCCATGTTGAAGGACAAGGAGCCGGGCTCATTCATTGTTCGAGACAGCCATTCCTTCCGAGGGGC
CTATGGCCTGGCCATGAAGGTGGCCACGCCCCCACCTTCAGTCCTGCAGCTGAACAAGAAAGCTGGAGATTTGGCCAATGAACTCGTCCGGCACTTTTTG
ATCGAGTGTACCCCGAAGGGAGTGCGGTTGAAAGGGTGCTCGAATGAACCATATTTCGGGAGCCTGACGGCCTTGGTGTGCCAGCATTCCATCACGCCCT
TGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTT
GAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTG
GTCCAGGAGCCTCCACCTGTGTCCACAGTTGTGCACTTCAAGGTGTCAGCCCAGGGCATCACCCTGACAGACAATCAGAGGAAGCTCTTCTTCCGGAGGC
ATTACCCCGTGAACAGTGTGATTTTCTGTGCCTTGGACCCACAAGACAGGAAGTGGATCAAAGATGGCCCTTCCTCAAAAGTCTTTGGATTTGTGGCCCG
GAAGCAGGGCAGTGCCACGGATAATGTGTGCCACCTGTTTGCAGAGCATGACCCTGAGCAGCCTGCCAGTGCCATTGTCAACTTCGTATCAAAGGTCATG
ATTGGTTCCCCAAAGAAGGTCTGAGAACTCCCCTCCCTCCCTGGACCCACCGATGCCTCTCGAAGCCCTGGAGACAGCCGTTGGGTGAGGGTGGGGCCCC
CACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAACATCACCGTGAAT
TGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACCCCCTAGGGTCCC
CATGGGAAAGGGACATGCAAGGAAACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCACACTAGCATTCCGGGGGATGAGGAATCCCCAGCCCTTG
AGGCAGAGGTGCCGAGTGACTGCCATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGCACCCGAGGCCGGGGGTTTCCCTCACCTCGGTCTTCCC
AAGATGGAGATGCTAACGAAACTGAGAAGGGGGCGTATGTTTGACGAAGGTTTGTGCAAGTCAGGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGG
CCTTTGCGATGGGCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTC
ACCTGTGGTGAGCTGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGGACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATT
ATTTCTATGTAATTTATATTTTACTTATGCCAAATTATTTATGATAATTTGCCATTGCTATACTGTACCAGTGTCAAATGCTGCAGCCTGCCAAGCTGTG
ATTTTGTGAGGCTTGTCCCTATGTAGGATGCACCGCAGGCCCCTGGCCACTGAAAGAGTGTGCAGTGGACTGTGGGTCTCCCATATGCGGTGCCGCCCAA
AGGTGGCTTTGCCTCAAGCAACCTACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATTGTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAG
GGATGGAAAACGCCTGGATTTAAGCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTAT
CAGCCCTCTTTGTGCTGCTCCTTGCCACCTTGGGGTTCCTGCTGGGGACCATGTGTGGTTGTGGCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGA
AGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGAATCAAGTGTATTTCAGGCTTATTTCAACATTCCAATG
CCCTGGTTTTCCTGCTTGAATCTGTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAACATCCCCAGAGTGAAAGATGGAGCTGGGCCACATCAG
AATAAGGCCTTGGCCCCATCCTCTCACAGCCTAGGTGCTCTGCAGGCATGCTGACTGTCCTGATTGCGATCCAGCCCGAAATTCCCTCCTCTGCTTTCAA
AAGTCAAATCCCCCATTCTTAGGCCACACTGGTGTCACAAGCTCCTGTCAGGGAGCTGGGGTTTGGGAATGTGCTTTGTGAACTCTGCTTTAAAGTGAGG
GGCCGAGGAAAACTTAGAAACAGGCAGAGTTGGAAGCAGCCAAATCACAGTGGGTGTTGTGTGTGTGTGCGTGTGTGCATGCGTGCGTGTATGCGTGTGT
GAAAGCAGGTGGACCATTCCACTTTTTAGCTCCTATTGATGCACCAAACCAAGTGCCTCATTTCTGTGCCAAATGTTTGCCTTGGTCGTTGTGGACCTCC
TTCTCTAACTTGCGGTGGCATGACTGTCAGGAGGTGCTGGCATTTTCAGCAGATCCTCATGTGTTGACCCTGATGTCTTTAGCAGAGGCCTCTAGCATCT
CGGTTTTTCATCCACTGCAGGAATGTGGCCACAGGGAGCAGAGGTTTGTACTTTCCCCAAGAGGTCCTCATCCTGAGACGGTCTCTACCCATGTTTAACC
CAAAGAGTGCAGGCCAGGTTCCTTATCCTTCTGATGAAGGATGAGAGAGCTCATTTAGAAGTCAGAGCAAACTAGGGTCTCAGTATTGAGAAACGCAGCC
TGCCAGGGAATCACAGAGACATCGGGGTGCCCGCGATGGCCCTCATGAAGCCATGCCTCGACGGCATTCAGGAAGCCCTGCAAACGTGCTTTTTGAACTC
ATTGGCCAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAG
TTTCCACGATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTAC
TGTGGGCTCAGAAACCGTGAGAGAGCCCCCACCGTGGACACCGGCTCTAGGGCCACAGGAAAAGGAACGTTTCCAGGCATTTTGTCTCCAGGGCTCCCGC
TGGACAGGCACGTACTGCCCTGGGGAGTAAATGCGGAGAGTTCACGAACTGTGCCCAACGCATGTTATAGCCAGGGTCCTACTAACTACTCAGTAAAAGA
ACGTATTGTTGTATTCCTCCAGTGTTAAGCTATAGCCATGTTAAAAGTCACTGTGCATTTATTCTCAGCATCAAATACCTTGTAACGTCTTCTCTGCCTT
GTTAGTGCATATTTTTACTTTTCTGATACTGTAAAGAATATATCCAGTATGTAAATGAATGTTCTATAAATCTTTTGTATAGTCATTTTCTCTGCTCCTT
AAATATCATCTCTATTCAGAGTATAATAAAATTATGAACTTGGTAAGCCTCCGTGAGACGGT


Protein Sequence     (SEQ ID NO:479):
MSESPIGPKSTMLRADASSTPSFQQAFASSCTISSNGPGQRRESSSSAERQWVESSPKPMVSLLGSGRPTGSPLSAEFSGTRKDSPVLSCFPPSELQAPF
HSHELSLAEPPDSLAPPSSQAFLGFGTAPVGSGLPPEEDLGALLANSHGASPTPSIPLTATGAADNGFLSHNFLTVAPGHSSHHSPGLQGQGVTLPGQPP
LPEKKRASEGDRSLGSVSPSSSGFSSPHSGSTISIPFPNVLPDFSKASEAASPLPDSPGDKLVIVKFVQDTSKFWYKADISREQAIAMLKDKEPGSFIVR
DSHSFRGAYGLAMKVATPPPSVLQLNKKAGDLANELVRHFLIECTPKGVRLKGCSNEPYFGSLTALVCQHSITPLALPCKLLIPERDPLEEIAESSPQTA
ANSAAELLKQGAACNVWYLNSVEMESLTGHQAIQKALSITLVQEPPPVSTVVHFKVSAQGITLTDNQRKLFFRRHYPVNSVIFCALDPQDRKWIKDGPSS
KVFGFVARKQGSATDNVCHLFAEHDPEQPASAIVNFVSKVMIGSPKKV*



SNP Information


Context              (SEQ ID NO:4529):
TCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAG
Y
AGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTG
Celera SNP ID:                hCV25649537
SNP Position Transcript:      1288
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 404,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4530):
CCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCG
R
CCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCC
Celera SNP ID:                hCV25649511
SNP Position Transcript:      534
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,28)  african american(G,3|A,31)  total(G,3|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 153,(T,ACC) (A,GCC)



Context              (SEQ ID NO:4531):
CTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTC
Y
CCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGA
Celera SNP ID:                hCV25649499
SNP Position Transcript:      312
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|C,0)  african american(T,32|C,2)  total(T,52|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 79,(S,TCC) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,26|C,2)  total(T,66|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 79,(S,TCC) (P,CCC)



Context              (SEQ ID NO:4532):
GCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGA
R
TTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCAC
Celera SNP ID:                hCV25649500
SNP Position Transcript:      308
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,15|A,5)  african american(G,29|A,5)  total(G,44|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:479, 77,(E,GAG) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,6)  african american(G,29|A,3)  total(G,61|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:479, 77,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2624|A,356) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:479, 77,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4533):
TGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCC
R
AGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTC
Celera SNP ID:                hCV27504055
SNP Position Transcript:      486
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,746|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 137,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4534):
TTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAA
Y
GTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGT
Celera SNP ID:                hCV419742
SNP Position Transcript:      1322
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,7|C,19)  total(T,10|C,36)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:479, 415,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1862|T,718) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-) ; no_pop(C,5
00|T,172)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:479, 415,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4535):
GGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCC
M
GCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGC
Celera SNP ID:                hCV25649510
SNP Position Transcript:      547
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,26|A,2)  total(C,50|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 157,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,34|A,2)  total(C,58|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 157,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,27|A,1)  total(C,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:479, 157,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:4536):
AGGGTGGGGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAA
Y
ATCACCGTGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACC
Celera SNP ID:                hCV156587
SNP Position Transcript:      1888
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,173|C,1319) ; no_pop(T,3|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4537):
GGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAACATCACC
K
TGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACCCCCTAGG
Celera SNP ID:                hCV156588
SNP Position Transcript:      1895
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,3|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4538):
TGGGTGCACCCCACCCCCTAGGGTCCCCATGGGAAAGGGACATGCAAGGAAACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCACACTAGCATTC
Y
GGGGGATGAGGAATCCCCAGCCCTTGAGGCAGAGGTGCCGAGTGACTGCCATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGCACCCGAGGCCG
Celera SNP ID:                hCV27470176
SNP Position Transcript:      2074
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,1086|T,1294) ; no_pop(C,-|T,-) ; no_pop(C,97|T,21)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4539):
TTGTGCAAGTCAGGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGGCCTTTGCGATGGGCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTT
R
GAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAGCTGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAG
Celera SNP ID:                hCV27494880
SNP Position Transcript:      2352
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,423|A,1069) ; no_pop(G,-|A,-) ; no_pop(G,41|A,63)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4540):
GCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAG
Y
TGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGGACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATTATTTCTATGTAAT
Celera SNP ID:                hCV27471727
SNP Position Transcript:      2413
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4541):
CCTCAAGCAACCTACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATTGTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAGGGATGGAAAAC
K
CCTGGATTTAAGCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTG
Celera SNP ID:                hCV27467112
SNP Position Transcript:      2812
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,38|G,54) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4542):
TCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTGTGCTGCTCCTTGCCACCTTGGGGTTCCTGCTGGGGACCAT
S
TGTGGTTGTGGCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCT
Celera SNP ID:                hCV29923718
SNP Position Transcript:      2953
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4543):
AGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGAATCAAGTGTATTTCAGGCTTATTTC
W
ACATTCCAATGCCCTGGTTTTCCTGCTTGAATCTGTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAACATCCCCAGAGTGAAAGATGGAGCTG
Celera SNP ID:                hCV11326848
SNP Position Transcript:      3089
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Context              (SEQ ID NO:4544):
CAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCA
Y
GATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGC
Celera SNP ID:                hCV8325581
SNP Position Transcript:      4107
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:479, None



Gene Number:                  93
Celera Gene:                  hCG2006842 - 208000028118764
Celera Transcript:            hCT2294290 - 208000028118700
Public Transcript Accession:
Celera Protein:               hCP1887367 - 208000028118751
Public Protein Accession:
Gene Symbol:                  TENS1
Protein Name:                  tensin-like SH2 domain containing 1
Celera Genomic Axis:          GA_x5YUV32VU87(6632093..6951121)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:219):
AGCCAGCCAGGAGGACGGGCCCGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGCCGGAA
GAATTAACCTCGAGTCTGCACGCTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCAT
GCCGAGCCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGTTCCAC
GCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTGCGGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAG
CGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTCTGAGGAGTCCTACCTGCACAACCTACAGGAGGTCACGCGCATGCTCAAGTCCAAGCACGGGGACA
ACTACCTGGTATTAAACCTTTCAGAAAAGAGATATGACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCGCCCCT
GGATAAGATGTGTACCATATGCAAGGCGCAGGAGTCCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGACGCATA
GGAGTGGTCATATCATCCTACATGCATTTCACCAACGTCTCAGCCAGCGCCGACCAGGCCCTTGACAGGTTTGCAATGAAGAAGTTTTATGATGACAAAG
TTTCAGCTTTAATGCAGCCTTCCCAAAAACGGTATGTTCAGTTCCTCAGTGGGCTCCTGTCCGGATCGGTGAAAATGAATGCCTCTCCCCTGTTCCTGCA
TTTTGTCATCCTCCACGGCACCCCCAACTTCGACACAGGTGGAGTGTGCCGGCCCTTTCTGAAGCTCTACCAAGCCATGCAGCCTGTGTACACCTCCGGG
ATCTACAACGTTGGCCCAGAAAACCCCAGCAGGATCTGCATCGTCATCGAGCCGGCCCAGCTTCTGAAGGGAGATGTCATGGTGAAATGCTACCACAAGA
AATACCGCTCGGCCACCCGTGACGTCATTTTCCGCCTGCAGTTTCACACTGGGGCTGTGCAGGGCTACGGGCTGGTGTTTGGGAAGGAGGATCTGGACAA
TGCCAGCAAAGATGACCGTTTTCCTGACTATGGGAAGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTCCGAACACTTGTACAACGAC
CACGGTGTGATTGTGGACTACAACACAACAGACCCACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAGTGCTACACACGCAGGGCC
CTGTCGATGGCAGCCTTTACGCGAAGGTGAGGAAGAAAAGCTCCTCGGATCCTGGCATCCCAGGTGGCCCCCAGGCAATCCCGGCCACCAACACCCTGCA
AACGTGCTTTTTGAACTCATTGGCCAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGA
GGAACCAAAGGAAGCAAGTTTCCACGATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTG
TGTCATCACAGATTGTACTGTGGGCTCAGAAACCGTGAGAGAGCCCCCACCGTGGACACCGGCTCTAGGGCCACAGGAAAAGGAACGTTTCCAGGCATTT
TGTCTCCAGGGCTCCCGCTGGACAGGCACGTACTGCCCTGGGGAGTAAATGCGGAGAGTTCACGAACTGTGCCCAACGCATGTTATAGCCAGGGTCCTAC
TAACTACTCAGTAAAAGAACGTATTGTTGTATTCCTCCAGTGTTAAGCTATAGCCATGTTAAAAGTCACTGTGCATTTATTCTCAGCATCAAATACCTTG
TAACGTCTTCTCTGCCTTGTTAGTGCATATTTTTACTTTTCTGATACTGTAAAGAATATATCCAGTATGTAAATGAATGTTCTATAAATCTTTTGTATAG
TCATTTTCTCTGCTCCTTAAATATCATCTCTATTCAGAGTATAATAAAATTATGAACTTGGT


Protein Sequence     (SEQ ID NO:480):
ASQEDGPARALLGAQPRCGHRPAGPRLRLPQPEELTSSLHAFKNKAFKKSKVCGVCKQIIDGQGISCRACKYSCHKKCEAKVVIPCGVQVRLEQAPGSST
LSSSLCRDKPLRPVILSPTMEEGHGLDLTYITERIIAVSFPAGCSEESYLHNLQEVTRMLKSKHGDNYLVLNLSEKRYDLTKLNPKIMDVGWPELHAPPL
DKMCTICKAQESWLNSNLQHVVVIHCRGGKGRIGVVISSYMHFTNVSASADQALDRFAMKKFYDDKVSALMQPSQKRYVQFLSGLLSGSVKMNASPLFLH
FVILHGTPNFDTGGVCRPFLKLYQAMQPVYTSGIYNVGPENPSRICIVIEPAQLLKGDVMVKCYHKKYRSATRDVIFRLQFHTGAVQGYGLVFGKEDLDN
ASKDDRFPDYGKVELVFSATPEKIQGSEHLYNDHGVIVDYNTTDPLIRWDSYENLSADGEVLHTQGPVDGSLYAKVRKKSSSDPGIPGGPQAIPATNTLQ
TCFLNSLARCDFYTR*



SNP Information


Context              (SEQ ID NO:4545):
AGAGATATGACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCGCCCCTGGATAAGATGTGTACCATATGCAAGGC
R
CAGGAGTCCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGACGCATAGGAGTGGTCATATCATCCTACATGCATT
Celera SNP ID:                hCV25936730
SNP Position Transcript:      628
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:480, 209,(A,GCG) (A,GCA)



Context              (SEQ ID NO:4546):
TGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGTTCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTG
Y
GGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTC
Celera SNP ID:                hCV25932158
SNP Position Transcript:      335
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,10|C,22)  total(T,18|C,54)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 112,(R,CGG) (W,TGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 112,(R,CGG) (W,TGG)



Context              (SEQ ID NO:4547):
TGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGTTCCACGCTGTCCA
R
TTCTCTCTGCCGTGATAAACCTCTGCGGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATC
Celera SNP ID:                hCV25932185
SNP Position Transcript:      309
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,7)  total(G,59|A,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 103,(S,AGT) (N,AAT)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 103,(S,AGT) (N,AAT)



Context              (SEQ ID NO:4548):
GGAAGGAGGATCTGGACAATGCCAGCAAAGATGACCGTTTTCCTGACTATGGGAAGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTC
Y
GAACACTTGTACAACGACCACGGTGTGATTGTGGACTACAACACAACAGACCCACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAG
Celera SNP ID:                hCV128427
SNP Position Transcript:      1282
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(C,7|T,3) ; no_pop(C,322|T,26)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:480, 427,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4549):
CGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGCCGGAAGAATTAACCTCGAGTCTGCAC
R
CTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCATGCCGAGCCTGCAAGTATTCCTG
Celera SNP ID:                hCV1374159
SNP Position Transcript:      122
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,10)  african american(G,22|A,16)  total(G,50|A,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 41,(A,GCT) (T,ACT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,18|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:480, 41,(A,GCT) (T,ACT)



Context              (SEQ ID NO:4550):
CAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCA
Y
GATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGC
Celera SNP ID:                hCV8325581
SNP Position Transcript:      1625
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:480, None



Gene Number:                  93
Celera Gene:                  hCG2006842 - 208000028118764
Celera Transcript:            hCT2294291 - 208000028118733
Public Transcript Accession:  NM_022748
Celera Protein:               hCP1887371 - 208000028118752
Public Protein Accession:     NP_073585
Gene Symbol:                  TENS1
Protein Name:                  tensin-like SH2 domain containing 1
Celera Genomic Axis:          GA_x5YUV32VU87(6632093..6951121)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:220):
CCGGCAGCCAGCCAGGAGGACGGGCCCGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGC
CGGAAGAATTAACCTCGAGTCTGCACGCTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTAT
TTCATGCCGAGCCTGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGT
TCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTGCGGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCA
CGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTCTGAGGAGTCCTACCTGCACAACCTACAGGAGGTCACGCGCATGCTCAAGTCCAAGCACGG
GGACAACTACCTGGTATTAAACCTTTCAGAAAAGAGATATGACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCG
CCCCTGGATAAGATGTGTACCATATGCAAGGCGCAGGAGTCCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGAC
GCATAGGAGTGGTCATATCATCCTACATGCATTTCACCAACGTCTCAGCCAGCGCCGACCAGGCCCTTGACAGGTTTGCAATGAAGAAGTTTTATGATGA
CAAAGTTTCAGCTTTAATGCAGCCTTCCCAAAAACGGTATGTTCAGTTCCTCAGTGGGCTCCTGTCCGGATCGGTGAAAATGAATGCCTCTCCCCTGTTC
CTGCATTTTGTCATCCTCCACGGCACCCCCAACTTCGACACAGGTGGAGTGTGCCGGCCCTTTCTGAAGCTCTACCAAGCCATGCAGCCTGTGTACACCT
CCGGGATCTACAACGTTGGCCCAGAAAACCCCAGCAGGATCTGCATCGTCATCGAGCCGGCCCAGCTTCTGAAGGGAGATGTCATGGTGAAATGCTACCA
CAAGAAATACCGCTCGGCCACCCGTGACGTCATTTTCCGCCTGCAGTTTCACACTGGGGCTGTGCAGGGCTACGGGCTGGTGTTTGGGAAGGAGGATCTG
GACAATGCCAGCAAAGATGACCGTTTTCCTGACTATGGGAAGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTCCGAACACTTGTACA
ACGACCACGGTGTGATTGTGGACTACAACACAACAGACCCACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAGTGCTACACACGCA
GGGCCCTGTCGATGGCAGCCTTTACGCGAAGGTGAGGAAGAAAAGCTCCTCGGATCCTGGCATCCCAGGTGGCCCCCAGGCAATCCCGGCCACCAACAGC
CCAGACCACAGTGACCACACCTTGTCTGTCAGCAGTGACTCCGGCCACTCTACAGCCTCTGCCAGGACGGATAAGACGGAAGAGCGCCTGGCCCCAGGAA
CCAGGAGGGGCCTGAGTGCCCAGGAGAAGGCTGAGTTGGACCAGCTGCTCAGTGGCTTTGGCCTGGAAGATCCTGGAAGCTCCCTCAAGGAAATGACTGA
TGCTCGAAGCAAGTACAGTGGGACCCGCCACGTGGTGCCAGCCCAGGTTCACGTGAATGGAGACGCTGCTCTGAAGGATCGGGAGACAGACATTCTGGAT
GACGAGATGCCCCACCACGACCTGCACAGTGTGGACAGCCTTGGGACCCTGTCCTCCTCGGAAGGGCCTCAGTCGGCCCACCTGGGTCCCTTCACCTGCC
ACAAGAGCAGCCAGAACTCACTCCTATCTGACGGTTTTGGCAGCAACGTTGGTGAAGATCCGCAGGGCACCCTCGTTCCGGACCTGGGCCTTGGCATGGA
CGGCCCCTATGAGCGGGAGCGGACTTTTGGGAGTCGAGAGCCCAAGCAGCCCCAGCCCCTGCTGAGAAAGCCCTCAGTGTCCGCCCAGATGCAGGCCTAT
GGGCAGAGCAGCTACTCCACACAGACCTGGGTGCGCCAGCAGCAGATGGTTGTAGCTCACCAGTATAGCTTCGCCCCAGATGGGGAGGCCCGGCTGGTGA
GCCGCTGCCCTGCAGACAATCCTGGCCTCGTCCAGGCCCAGCCCAGAGTGCCACTCACCCCCACCCGAGGGACCAGCAGTAGGGTGGCTGTCCAGAGGGG
TGTAGGCAGTGGGCCACATCCCCCTGACACACAGCAGCCCTCTCCCAGCAAAGCGTTCAAACCCAGGTTTCCAGGAGACCAGGTTGTGAATGGAGCCGGC
CCAGAGCTGAGCACAGGCCCCTCCCCAGGCTCGCCCACCCTGGACATCGACCAGTCCATCGAGCAGCTCAACAGGCTGATCCTGGAGCTGGATCCCACCT
TCGAGCCCATCCCTACCCACATGAACGCCCTCGGTAGCCAGGCCAATGGCTCTGTGTCTCCAGACAGCGTGGGAGGTGGGCTCCGGGCAAGCAGCAGGCT
GCCTGACACAGGAGAGGGCCCCAGCAGGGCCACCGGGCGGCAAGGCTCCTCTGCTGAACAGCCCCTGGGCGGGAGACTCAGGAAGCTGAGCCTGGGGCAG
TACGACAACGATGCTGGGGGGCAGCTGCCCTTCTCCAAATGTGCATGGGGAAAGGCTGGTGTGGACTATGCCCCAAACCTGCCGCCATTCCCCTCACCAG
CGGACGTCAAAGAGACGATGACCCCTGGCTATCCCCAGGACCTCGATATTATCGATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGC
ATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACAGCGCTGCGCCATCCTCCGTTCAGCCCACCTGAGCCCCCGCTGAGCAGCCCAGCCAGTCAGCAC
AAAGGAGGACGTGAACCACGAAGCTGCCCTGAGACGCTCACTCACGCTGTGGGGATGTCAGAGAGCCCCATCGGACCCAAATCCACGATGCTCCGGGCTG
ATGCGTCCTCGACGCCCTCCTTTCAGCAGGCTTTTGCTTCTTCCTGCACCATTTCCAGCAACGGCCCTGGGCAGAGGAGAGAGAGCTCCTCTTCTGCAGA
ACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTCTCCGGTACCAGG
AAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGC
CTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGG
AGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGC
CACCACAGTCCAGGCCTGCAGGGCCAGGGTGTGACCCTGCCCGGGCAGCCACCCCTCCCTGAGAAGAAGCGGGCCTCGGAGGGGGATCGTTCTTTGGGCT
CAGTCTCTCCCTCCTCCAGTGGCTTCTCCAGCCCGCACAGCGGGAGCACCATCAGTATCCCCTTCCCAAATGTCCTTCCCGACTTTTCCAAGGCTTCAGA
AGCGGCCTCACCTCTGCCAGATAGTCCAGGTGATAAACTTGTGATCGTGAAATTTGTTCAAGACACTTCCAAGTTCTGGTACAAGGCGGATATTTCAAGA
GAACAAGCCATCGCCATGTTGAAGGACAAGGAGCCGGGCTCATTCATTGTTCGAGACAGCCATTCCTTCCGAGGGGCCTATGGCCTGGCCATGAAGGTGG
CCACGCCCCCACCTTCAGTCCTGCAGCTGAACAAGAAAGCTGGAGATTTGGCCAATGAACTCGTCCGGCACTTTTTGATCGAGTGTACCCCGAAGGGAGT
GCGGTTGAAAGGGTGCTCGAATGAACCATATTTCGGGAGCCTGACGGCCTTGGTGTGCCAGCATTCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTT
ATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACG
TGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGTC
CACAGTTGTGCACTTCAAGGTGTCAGCCCAGGGCATCACCCTGACAGACAATCAGAGGAAGCTCTTCTTCCGGAGGCATTACCCCGTGAACAGTGTGATT
TTCTGTGCCTTGGACCCACAAGACAGGAAGTGGATCAAAGATGGCCCTTCCTCAAAAGTCTTTGGATTTGTGGCCCGGAAGCAGGGCAGTGCCACGGATA
ATGTGTGCCACCTGTTTGCAGAGCATGACCCTGAGCAGCCTGCCAGTGCCATTGTCAACTTCGTATCAAAGGTCATGATTGGTTCCCCAAAGAAGGTCTG
AGAACTCCCCTCCCTCCCTGGACCCACCGATGCCTCTCGAAGCCCTGGAGACAGCCGTTGGGTGAGGGTGGGGCCCCCACTTTTTACCAAACTAGTAAAC
CTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAACATCACCGTGAATTGGCCTTTCCTGAAAGTGACTTA
TCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACCCCCTAGGGTCCCCATGGGAAAGGGACATGCAAGGA
AACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCACACTAGCATTCCGGGGGATGAGGAATCCCCAGCCCTTGAGGCAGAGGTGCCGAGTGACTGC
CATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGCACCCGAGGCCGGGGGTTTCCCTCACCTCGGTCTTCCCAAGATGGAGATGCTAACGAAACT
GAGAAGGGGGCGTATGTTTGACGAAGGTTTGTGCAAGTCAGGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGGCCTTTGCGATGGGCTGTGAGGAT
GGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAGCTGGGCGAGCT
GGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGGACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATTATTTCTATGTAATTTATATTTTA
CTTATGCCAAATTATTTATGATAATTTGCCATTGCTATACTGTACCAGTGTCAAATGCTGCAGCCTGCCAAGCTGTGATTTTGTGAGGCTTGTCCCTATG
TAGGATGCACCGCAGGCCCCTGGCCACTGAAAGAGTGTGCAGTGGACTGTGGGTCTCCCATATGCGGTGCCGCCCAAAGGTGGCTTTGCCTCAAGCAACC
TACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATTGTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAGGGATGGAAAACGCCTGGATTTAA
GCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTGTGCTGCTCCTT
GCCACCTTGGGGTTCCTGCTGGGGACCATGTGTGGTTGTGGCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCT
GTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGAATCAAGTGTATTTCAGGCTTATTTCAACATTCCAATGCCCTGGTTTTCCTGCTTGAATCT
GTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAACATCCCCAGAGTGAAAGATGGAGCTGGGCCACATCAGAATAAGGCCTTGGCCCCATCCTC
TCACAGCCTAGGTGCTCTGCAGGCATGCTGACTGTCCTGATTGCGATCCAGCCCGAAATTCCCTCCTCTGCTTTCAAAAGTCAAATCCCCCATTCTTAGG
CCACACTGGTGTCACAAGCTCCTGTCAGGGAGCTGGGGTTTGGGAATGTGCTTTGTGAACTCTGCTTTAAAGTGAGGGGCCGAGGAAAACTTAGAAACAG
GCAGAGTTGGAAGCAGCCAAATCACAGTGGGTGTTGTGTGTGTGTGCGTGTGTGCATGCGTGCGTGTATGCGTGTGTGAAAGCAGGTGGACCATTCCACT
TTTTAGCTCCTATTGATGCACCAAACCAAGTGCCTCATTTCTGTGCCAAATGTTTGCCTTGGTCGTTGTGGACCTCCTTCTCTAACTTGCGGTGGCATGA
CTGTCAGGAGGTGCTGGCATTTTCAGCAGATCCTCATGTGTTGACCCTGATGTCTTTAGCAGAGGCCTCTAGCATCTCGGTTTTTCATCCACTGCAGGAA
TGTGGCCACAGGGAGCAGAGGTTTGTACTTTCCCCAAGAGGTCCTCATCCTGAGACGGTCTCTACCCATGTTTAACCCAAAGAGTGCAGGCCAGGTTCCT
TATCCTTCTGATGAAGGATGAGAGAGCTCATTTAGAAGTCAGAGCAAACTAGGGTCTCAGTATTGAGAAACGCAGCCTGCCAGGGAATCACAGAGACATC
GGGGTGCCCGCGATGGCCCTCATGAAGCCATGCCTCGACGGCATTCAGGAAGCCCTGCAAACGTGCTTTTTGAACTCATTGGCCAGGTGTGATTTTTACA
CAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCACGATTTCTGAAGAGCTG
GTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGCTCAGAAACCGTGAGAG
AGCCCCCACCGTGGACACCGGCTCTAGGGCCACAGGAAAAGGAACGTTTCCAGGCATTTTGTCTCCAGGGCTCCCGCTGGACAGGCACGTACTGCCCTGG
GGAGTAAATGCGGAGAGTTCACGAACTGTGCCCAACGCATGTTATAGCCAGGGTCCTACTAACTACTCAGTAAAAGAACGTATTGTTGTATTCCTCCAGT
GTTAAGCTATAGCCATGTTAAAAGTCACTGTGCATTTATTCTCAGCATCAAATACCTTGTAACGTCTTCTCTGCCTTGTTAGTGCATATTTTTACTTTTC
TGATACTGTAAAGAATATATCCAGTATGTAAATGAATGTTCTATAAATCTTTTGTATAGTCATTTTCTCTGCTCCTTAAATATCATCTCTATTCAGAGTA
TAATAAAATTATGAACTTGGTAAGCCTCCGTGAGACGGT


Protein Sequence     (SEQ ID NO:481):
PAASQEDGPARALLGAQPRCGHRPAGPRLRLPQPEELTSSLHAFKNKAFKKSKVCGVCKQIIDGQGISCRACKYSCHKKCEAKVVIPCGVQVRLEQAPGS
STLSSSLCRDKPLRPVILSPTMEEGHGLDLTYITERIIAVSFPAGCSEESYLHNLQEVTRMLKSKHGDNYLVLNLSEKRYDLTKLNPKIMDVGWPELHAP
PLDKMCTICKAQESWLNSNLQHVVVIHCRGGKGRIGVVISSYMHFTNVSASADQALDRFAMKKFYDDKVSALMQPSQKRYVQFLSGLLSGSVKMNASPLF
LHFVILHGTPNFDTGGVCRPFLKLYQAMQPVYTSGIYNVGPENPSRICIVIEPAQLLKGDVMVKCYHKKYRSATRDVIFRLQFHTGAVQGYGLVFGKEDL
DNASKDDRFPDYGKVELVFSATPEKIQGSEHLYNDHGVIVDYNTTDPLIRWDSYENLSADGEVLHTQGPVDGSLYAKVRKKSSSDPGIPGGPQAIPATNS
PDHSDHTLSVSSDSGHSTASARTDKTEERLAPGTRRGLSAQEKAELDQLLSGFGLEDPGSSLKEMTDARSKYSGTRHVVPAQVHVNGDAALKDRETDILD
DEMPHHDLHSVDSLGTLSSSEGPQSAHLGPFTCHKSSQNSLLSDGFGSNVGEDPQGTLVPDLGLGMDGPYERERTFGSREPKQPQPLLRKPSVSAQMQAY
GQSSYSTQTWVRQQQMVVAHQYSFAPDGEARLVSRCPADNPGLVQAQPRVPLTPTRGTSSRVAVQRGVGSGPHPPDTQQPSPSKAFKPRFPGDQVVNGAG
PELSTGPSPGSPTLDIDQSIEQLNRLILELDPTFEPIPTHMNALGSQANGSVSPDSVGGGLRASSRLPDTGEGPSRATGRQGSSAEQPLGGRLRKLSLGQ
YDNDAGGQLPFSKCAWGKAGVDYAPNLPPFPSPADVKETMTPGYPQDLDIIDGRILSSKESMCSTPAFPVSPETPYVKTALRHPPFSPPEPPLSSPASQH
KGGREPRSCPETLTHAVGMSESPIGPKSTMLRADASSTPSFQQAFASSCTISSNGPGQRRESSSSAERQWVESSPKPMVSLLGSGRPTGSPLSAEFSGTR
KDSPVLSCFPPSELQAPFHSHELSLAEPPDSLAPPSSQAFLGFGTAPVGSGLPPEEDLGALLANSHGASPTPSIPLTATGAADNGFLSHNFLTVAPGHSS
HHSPGLQGQGVTLPGQPPLPEKKRASEGDRSLGSVSPSSSGFSSPHSGSTISIPFPNVLPDFSKASEAASPLPDSPGDKLVIVKFVQDTSKFWYKADISR
EQAIAMLKDKEPGSFIVRDSHSFRGAYGLAMKVATPPPSVLQLNKKAGDLANELVRHFLIECTPKGVRLKGCSNEPYFGSLTALVCQHSITPLALPCKLL
IPERDPLEEIAESSPQTAANSAAELLKQGAACNVWYLNSVEMESLTGHQAIQKALSITLVQEPPPVSTVVHFKVSAQGITLTDNQRKLFFRRHYPVNSVI
FCALDPQDRKWIKDGPSSKVFGFVARKQGSATDNVCHLFAEHDPEQPASAIVNFVSKVMIGSPKKV*



SNP Information


Context              (SEQ ID NO:4551):
TGAGAAAGCCCTCAGTGTCCGCCCAGATGCAGGCCTATGGGCAGAGCAGCTACTCCACACAGACCTGGGTGCGCCAGCAGCAGATGGTTGTAGCTCACCA
S
TATAGCTTCGCCCCAGATGGGGAGGCCCGGCTGGTGAGCCGCTGCCCTGCAGACAATCCTGGCCTCGTCCAGGCCCAGCCCAGAGTGCCACTCACCCCCA
Celera SNP ID:                hCV15970771
SNP Position Transcript:      2163
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1221|C,259) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 721,(Q,CAG) (H,CAC)



Context              (SEQ ID NO:4552):
TCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAG
Y
AGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTG
Celera SNP ID:                hCV25649537
SNP Position Transcript:      4265
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1422,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4553):
CCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCG
R
CCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCC
Celera SNP ID:                hCV25649511
SNP Position Transcript:      3511
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,28)  african american(G,3|A,31)  total(G,3|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1171,(T,ACC) (A,GCC)



Context              (SEQ ID NO:4554):
AGAGATATGACCTTACGAAGCTTAACCCAAAGATCATGGATGTGGGCTGGCCAGAGCTCCACGCACCGCCCCTGGATAAGATGTGTACCATATGCAAGGC
R
CAGGAGTCCTGGCTGAACAGCAACCTCCAGCATGTGGTCGTCATTCACTGCAGGGGCGGGAAAGGACGCATAGGAGTGGTCATATCATCCTACATGCATT
Celera SNP ID:                hCV25936730
SNP Position Transcript:      633
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,31|A,1)  total(G,71|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 211,(A,GCG) (A,GCA)



Context              (SEQ ID NO:4555):
TGATCCTGGAGCTGGATCCCACCTTCGAGCCCATCCCTACCCACATGAACGCCCTCGGTAGCCAGGCCAATGGCTCTGTGTCTCCAGACAGCGTGGGAGG
Y
GGGCTCCGGGCAAGCAGCAGGCTGCCTGACACAGGAGAGGGCCCCAGCAGGGCCACCGGGCGGCAAGGCTCCTCTGCTGAACAGCCCCTGGGCGGGAGAC
Celera SNP ID:                hCV16019051
SNP Position Transcript:      2577
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,651|C,469) ; no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 859,(G,GGT) (G,GGC)



Context              (SEQ ID NO:4556):
TGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGTTCCACGCTGTCCAGTTCTCTCTGCCGTGATAAACCTCTG
Y
GGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATCGCTGTGTCCTTCCCTGCCGGCTGCTC
Celera SNP ID:                hCV25932158
SNP Position Transcript:      340
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,8|C,32)  african american(T,10|C,22)  total(T,18|C,54)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 114,(R,CGG) (W,TGG)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 114,(R,CGG) (W,TGG)



Context              (SEQ ID NO:4557):
CTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTC
Y
CCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGA
Celera SNP ID:                hCV25649499
SNP Position Transcript:      3289
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|C,0)  african american(T,32|C,2)  total(T,52|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1097,(S,TCC) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,26|C,2)  total(T,66|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1097,(S,TCC) (P,CCC)



Context              (SEQ ID NO:4558):
GCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGA
R
TTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCAC
Celera SNP ID:                hCV25649500
SNP Position Transcript:      3285
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,15|A,5)  african american(G,29|A,5)  total(G,44|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 1095,(E,GAG) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,6)  african american(G,29|A,3)  total(G,61|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 1095,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2624|A,356) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 1095,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4559):
ATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGCATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACAGCGCTGCGCCATCCTCC
R
TTCAGCCCACCTGAGCCCCCGCTGAGCAGCCCAGCCAGTCAGCACAAAGGAGGACGTGAACCACGAAGCTGCCCTGAGACGCTCACTCACGCTGTGGGGA
Celera SNP ID:                hCV25649522
SNP Position Transcript:      2955
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,37|A,3)  african american(G,37|A,1)  total(G,74|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 985,(P,CCG) (P,CCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,37|A,1)  total(G,77|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 985,(P,CCG) (P,CCA)



Context              (SEQ ID NO:4560):
TGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCC
R
AGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTC
Celera SNP ID:                hCV27504055
SNP Position Transcript:      3463
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,746|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1155,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4561):
GGGTGTAGGCAGTGGGCCACATCCCCCTGACACACAGCAGCCCTCTCCCAGCAAAGCGTTCAAACCCAGGTTTCCAGGAGACCAGGTTGTGAATGGAGCC
R
GCCCAGAGCTGAGCACAGGCCCCTCCCCAGGCTCGCCCACCCTGGACATCGACCAGTCCATCGAGCAGCTCAACAGGCTGATCCTGGAGCTGGATCCCAC
Celera SNP ID:                hCV29250523
SNP Position Transcript:      2398
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 800,(G,GGC) (S,AGC)



Context              (SEQ ID NO:4562):
TTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAA
Y
GTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGT
Celera SNP ID:                hCV419742
SNP Position Transcript:      4299
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,7|C,19)  total(T,10|C,36)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 1433,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1862|T,718) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-) ; no_pop(C,5
00|T,172)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 1433,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4563):
GCAGTGACTCCGGCCACTCTACAGCCTCTGCCAGGACGGATAAGACGGAAGAGCGCCTGGCCCCAGGAACCAGGAGGGGCCTGAGTGCCCAGGAGAAGGC
W
GAGTTGGACCAGCTGCTCAGTGGCTTTGGCCTGGAAGATCCTGGAAGCTCCCTCAAGGAAATGACTGATGCTCGAAGCAAGTACAGTGGGACCCGCCACG
Celera SNP ID:                hCV11327817
SNP Position Transcript:      1632
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,878|T,704) ; no_pop(A,2|T,3) ; no_pop(A,-|T,-) ; no_pop(A,-|T
,116)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 544,(A,GCT) (A,GCA)



Context              (SEQ ID NO:4564):
GGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCC
M
GCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGC
Celera SNP ID:                hCV25649510
SNP Position Transcript:      3524
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,26|A,2)  total(C,50|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1175,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,34|A,2)  total(C,58|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1175,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,27|A,1)  total(C,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 1175,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:4565):
AAATGTGCATGGGGAAAGGCTGGTGTGGACTATGCCCCAAACCTGCCGCCATTCCCCTCACCAGCGGACGTCAAAGAGACGATGACCCCTGGCTATCCCC
M
GGACCTCGATATTATCGATGGCAGAATTTTAAGTAGCAAGGAGTCCATGTGTTCAACTCCAGCATTTCCTGTGTCTCCAGAGACACCGTATGTGAAAACA
Celera SNP ID:                hCV25649524
SNP Position Transcript:      2837
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|A,31)  african american(C,0|A,36)  total(C,1|A,67)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 946,(Q,CAG) (P,CCG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|A,39)  african american(C,0|A,38)  total(C,1|A,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 946,(Q,CAG) (P,CCG)



Context              (SEQ ID NO:4566):
TGCAAGTATTCCTGCCACAAGAAATGTGAAGCCAAGGTGGTGATTCCCTGCGGTGTGCAAGTCCGACTGGAACAGGCTCCAGGGAGTTCCACGCTGTCCA
R
TTCTCTCTGCCGTGATAAACCTCTGCGGCCCGTCATCCTGAGTCCCACCATGGAGGAGGGCCATGGGCTGGACCTCACTTACATCACGGAGCGCATCATC
Celera SNP ID:                hCV25932185
SNP Position Transcript:      314
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,8)  african american(G,27|A,7)  total(G,59|A,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 105,(S,AGT) (N,AAT)

SNP Source:                   Applera/dbSNP
Population(Allele,Count):
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 105,(S,AGT) (N,AAT)



Context              (SEQ ID NO:4567):
GGAAGGAGGATCTGGACAATGCCAGCAAAGATGACCGTTTTCCTGACTATGGGAAGGTTGAATTAGTCTTCTCTGCCACGCCTGAGAAGATTCAAGGGTC
Y
GAACACTTGTACAACGACCACGGTGTGATTGTGGACTACAACACAACAGACCCACTGATACGCTGGGACTCGTACGAGAACCTCAGTGCAGATGGAGAAG
Celera SNP ID:                hCV128427
SNP Position Transcript:      1287
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(C,7|T,3) ; no_pop(C,322|T,26)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:481, 429,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4568):
CGCCCGCGCGCTACTCGGAGCCCAGCCTCGTTGCGGCCATCGCCCTGCCGGACCGCGCCTCAGGCTCCCCCAGCCGGAAGAATTAACCTCGAGTCTGCAC
R
CTTTTAAGAACAAGGCCTTTAAAAAATCCAAAGTGTGTGGAGTTTGCAAACAAATTATTGACGGTCAAGGTATTTCATGCCGAGCCTGCAAGTATTCCTG
Celera SNP ID:                hCV1374159
SNP Position Transcript:      127
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,28|A,10)  african american(G,22|A,16)  total(G,50|A,26)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 43,(A,GCT) (T,ACT)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,18|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:481, 43,(A,GCT) (T,ACT)



Context              (SEQ ID NO:4569):
AGGGTGGGGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAA
Y
ATCACCGTGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACC
Celera SNP ID:                hCV156587
SNP Position Transcript:      4865
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,173|C,1319) ; no_pop(T,3|C,2) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4570):
GGCCCCCACTTTTTACCAAACTAGTAAACCTGACATTCCAGGCCCATGAGGGGAAAGAGGATCTTCCAGCTCTGCAAAAACAAGAACAAACAACATCACC
K
TGAATTGGCCTTTCCTGAAAGTGACTTATCTGACACATCTCTGTAGCCACATGCTTTTTGGGTAGAAGAAGCTGGGCATGGGTGCACCCCACCCCCTAGG
Celera SNP ID:                hCV156588
SNP Position Transcript:      4872
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,3|T,2)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4571):
TGGGTGCACCCCACCCCCTAGGGTCCCCATGGGAAAGGGACATGCAAGGAAACAGCACAGAACACGAGGTGGTCCCCATGTCCCTGGCACACTAGCATTC
Y
GGGGGATGAGGAATCCCCAGCCCTTGAGGCAGAGGTGCCGAGTGACTGCCATGCTTCGCCCGTCCGCATGGGCGCTTCTGTCCAGCTGCACCCGAGGCCG
Celera SNP ID:                hCV27470176
SNP Position Transcript:      5051
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,1086|T,1294) ; no_pop(C,-|T,-) ; no_pop(C,97|T,21)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4572):
TTGTGCAAGTCAGGCCCTTCTGGAACACAGCAGGGCCTACAACGAGGGGCCTTTGCGATGGGCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTT
R
GAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAGCTGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAG
Celera SNP ID:                hCV27494880
SNP Position Transcript:      5329
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,423|A,1069) ; no_pop(G,-|A,-) ; no_pop(G,41|A,63)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4573):
GCTGTGAGGATGGGGGTGGTGGGAAGAATTGGCCACGTTAGAGACCCCATGCCACCCCACCATGGTGAGTGCTCTGTGCCTCCTGCTCACCTGTGGTGAG
Y
TGGGCGAGCTGGGCGAGCTGGGCGAGCTGGGCTGGGGAGAGCCTGTGAGGACCGAGAGGAGAAATGAGAAGAAGGAACAAAAATATTATTTCTATGTAAT
Celera SNP ID:                hCV27471727
SNP Position Transcript:      5390
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4574):
CCTCAAGCAACCTACCCTGATGTTTTACTCATTGGAATGTTTTTCCCCGATTGTGGATGACTTCTTTTCTGATGGAGAGAGTCCAGGAGGGATGGAAAAC
K
CCTGGATTTAAGCTCAGCATCCCCCACATGGGCTTTTCGATCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTG
Celera SNP ID:                hCV27467112
SNP Position Transcript:      5789
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,38|G,54) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4575):
TCATCTTCAGGCCTGAAGCTGCACGACCTGAAGTTCGCCTGCATTTATCAGCCCTCTTTGTGCTGCTCCTTGCCACCTTGGGGTTCCTGCTGGGGACCAT
S
TGTGGTTGTGGCATGTGTGAGCAGAAGGGAGGATGAGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCT
Celera SNP ID:                hCV29923718
SNP Position Transcript:      5930
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4576):
AGGAAAAAGAGAAGAAACCCCGGTACTGACAAGCTGTTTTTGAGTGCCACTGTTTGCCATCATCTAAGCCACTGAATCAAGTGTATTTCAGGCTTATTTC
W
ACATTCCAATGCCCTGGTTTTCCTGCTTGAATCTGTTCGTGGTCAAAGGTTTGGGGGAATTTGTGACCCTGGAACATCCCCAGAGTGAAAGATGGAGCTG
Celera SNP ID:                hCV11326848
SNP Position Transcript:      6066
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Context              (SEQ ID NO:4577):
CAGGTGTGATTTTTACACAAGGTAAACGTGGTCAAGGGCATCGGGGAATTTGCTCCAAGCAGATAGCTCCCTCTGAGGAACCAAAGGAAGCAAGTTTCCA
Y
GATTTCTGAAGAGCTGGTATAGGAAGTTTCTTTCTTCCTTTTGTGTTACATGTGCATTAAACAGAACAAGCTGTGTGTCATCACAGATTGTACTGTGGGC
Celera SNP ID:                hCV8325581
SNP Position Transcript:      7084
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:481, None



Gene Number:                  93
Celera Gene:                  hCG2006842 - 208000028118764
Celera Transcript:            hCT2294292 - 208000028118782
Public Transcript Accession:
Celera Protein:               hCP1887370 - 208000028118753
Public Protein Accession:
Gene Symbol:                  TENS1
Protein Name:                  tensin-like SH2 domain containing 1
Celera Genomic Axis:          GA_x5YUV32VU87(6632093..6951121)
Chromosome:                   7
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:221):
TGGGTGGGGGACGCCACCGCTGGGACAGGGACTCGGGACTCTGCTCACCACGTAGGGCTGCTGGGGACACAGCCCAAGGAGTTCCCTCTGTCTGGCCCAC
ATCCTCCCAGGCCCTTCCATGGACTGACCAGGGTCCTGGGTGCCAGAACCACGAAGCTGCCCTGAGACGCTCACTCACGCTGTGGGGATGTCAGAGAGCC
CCATCGGACCCAAATCCACGATGCTCCGGGCTGATGCGTCCTCGACGCCCTCCTTTCAGCAGGCTTTTGCTTCTTCCTGCACCATTTCCAGCAACGGCCC
TGGGCAGAGGAGAGAGAGCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGA
AGTCCCCTCAGCGCTGAGTTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGC
TGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGA
GGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCAC
AACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGCCAGGGTGTGACCCTGCCCGGGCAGCCACCCCTCCCTGAGAAGA
AGCGGGCCTCGGAGGGGGATCGTTCTTTGGGCTCAGTCTCTCCCTCCTCCAGTGGCTTCTCCAGCCCGCACAGCGGGAGCACCATCAGTATCCCCTTCCC
AAATGTCCTTCCCGACTTTTCCAAGGCTTCAGAAGCGGCCTCACCTCTGCCAGATAGTCCAGGTGATAAACTTGTGATCGTGAAATTTGTTCAAGACACT
TCCAAGTTCTGGTACAAGGCGGATATTTCAAGAGAACAAGCCATCGCCATGTTGAAGGACAAGGAGCCGGGCTCATTCATTGTTCGAGACAGCCATTCCT
TCCGAGGGGCCTATGGCCTGGCCATGAAGGTGGCCACGCCCCCACCTTCAGTCCTGCAGCTGAACAAGAAAGCTGGAGATTTGGCCAATGAACTCGTCCG
GCACTTTTTGATCGAGTGTACCCCGAAGGGAGTGCGGTTGAAAGGGTGCTCGAATGAACCATATTTCGGGAGCCTGACGGCCTTGGTGTGCCAGCATTCC
ATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAG
CTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAG
CATCACCCTGGTCCAGGAGCCTCCACCTGTGTCCACAGTTGTGCACTTCAAGGTGTCAGCCCAGGGCATCACCCTGACAGACAATCAGAGGAAGTGAGTG
CCTAGAGGGAGGCAGGAGCCGTCCAGCAGGGGCGGGGCTGTCACGTTCCTCTTGTTCTTCCCTAGTGTGAGTAGTCATCCAGGTAAATCATTAGCCGTCT
TTGAGGTCATGAGTCACCCAGGGTCTGTCTAGGCATTTTTCTGTCATTAAATACGTCCTGGGAACCACATAGGAACTCTTAGCATTTGTTTGCAAGGCTA
TTTTTCTTAGAAATCAGT


Protein Sequence     (SEQ ID NO:482):
MSESPIGPKSTMLRADASSTPSFQQAFASSCTISSNGPGQRRESSSSAERQWVESSPKPMVSLLGSGRPTGSPLSAEFSGTRKDSPVLSCFPPSELQAPF
HSHELSLAEPPDSLAPPSSQAFLGFGTAPVGSGLPPEEDLGALLANSHGASPTPSIPLTATGAADNGFLSHNFLTVAPGHSSHHSPGLQGQGVTLPGQPP
LPEKKRASEGDRSLGSVSPSSSGFSSPHSGSTISIPFPNVLPDFSKASEAASPLPDSPGDKLVIVKFVQDTSKFWYKADISREQAIAMLKDKEPGSFIVR
DSHSFRGAYGLAMKVATPPPSVLQLNKKAGDLANELVRHFLIECTPKGVRLKGCSNEPYFGSLTALVCQHSITPLALPCKLLIPERDPLEEIAESSPQTA
ANSAAELLKQGAACNVWYLNSVEMESLTGHQAIQKALSITLVQEPPPVSTVVHFKVSAQGITLTDNQRK*



SNP Information


Context              (SEQ ID NO:4578):
TCCATCACGCCCTTGGCCTTGCCGTGCAAGCTGCTTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAG
Y
AGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAACGTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTG
Celera SNP ID:                hCV25649537
SNP Position Transcript:      1398
SNP Source:                   CDX
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 404,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4579):
CCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCG
R
CCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCC
Celera SNP ID:                hCV25649511
SNP Position Transcript:      644
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,28)  african american(G,3|A,31)  total(G,3|A,59)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 153,(T,ACC) (A,GCC)



Context              (SEQ ID NO:4580):
CTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGAGTTC
Y
CCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCACCGGA
Celera SNP ID:                hCV25649499
SNP Position Transcript:      422
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,20|C,0)  african american(T,32|C,2)  total(T,52|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 79,(S,TCC) (P,CCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,40|C,0)  african american(T,26|C,2)  total(T,66|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 79,(S,TCC) (P,CCC)



Context              (SEQ ID NO:4581):
GCTCCTCTTCTGCAGAACGCCAGTGGGTGGAGAGCAGCCCCAAGCCCATGGTTTCCCTGCTGGGGAGCGGCCGGCCCACCGGAAGTCCCCTCAGCGCTGA
R
TTCTCCGGTACCAGGAAGGACTCCCCAGTGCTGTCCTGCTTCCCGCCGTCAGAGCTCCAGGCTCCTTTCCACAGCCATGAGCTGTCCCTAGCAGAGCCAC
Celera SNP ID:                hCV25649500
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,15|A,5)  african american(G,29|A,5)  total(G,44|A,10)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:482, 77,(E,GAG) (E,GAA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,32|A,6)  african american(G,29|A,3)  total(G,61|A,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:482, 77,(E,GAG) (E,GAA)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,2624|A,356) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:482, 77,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4582):
TGAGCTGTCCCTAGCAGAGCCACCGGACTCCCTGGCGCCTCCCAGCAGCCAGGCCTTCCTGGGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCC
R
AGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCCCGCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTC
Celera SNP ID:                hCV27504055
SNP Position Transcript:      596
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,746|A,2) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 137,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4583):
TTATCCCAGAGAGAGATCCATTGGAGGAAATAGCAGAAAGTTCTCCCCAGACGGCAGCCAATTCAGCAGCTGAGCTGTTGAAGCAGGGGGCAGCCTGCAA
Y
GTGTGGTACTTGAACTCTGTGGAGATGGAGTCCCTCACCGGCCACCAGGCGATCCAGAAGGCCCTGAGCATCACCCTGGTCCAGGAGCCTCCACCTGTGT
Celera SNP ID:                hCV419742
SNP Position Transcript:      1432
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,3|C,17)  african american(T,7|C,19)  total(T,10|C,36)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:482, 415,(N,AAC) (N,AAT)

SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,1862|T,718) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-) ; no_pop(C,5
00|T,172)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:482, 415,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4584):
GGCTTCGGCACCGCCCCAGTGGGAAGTGGCCTTCCGCCCGAGGAGGACCTGGGGGCCTTGCTGGCCAATTCTCATGGAGCGTCACCGACCCCCAGCATCC
M
GCTGACAGCGACAGGGGCTGCCGACAATGGCTTCCTGTCCCACAACTTTCTCACGGTGGCGCCTGGACACAGCAGCCACCACAGTCCAGGCCTGCAGGGC
Celera SNP ID:                hCV25649510
SNP Position Transcript:      657
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,26|A,2)  total(C,50|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 157,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,24|A,0)  african american(C,34|A,2)  total(C,58|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 157,(P,CCG) (Q,CAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|A,0)  african american(C,27|A,1)  total(C,65|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:482, 157,(P,CCG) (Q,CAG)



Context              (SEQ ID NO:4585):
GGGGCTGTCACGTTCCTCTTGTTCTTCCCTAGTGTGAGTAGTCATCCAGGTAAATCATTAGCCGTCTTTGAGGTCATGAGTCACCCAGGGTCTGTCTAGG
Y
ATTTTTCTGTCATTAAATACGTCCTGGGAACCACATAGGAACTCTTAGCATTTGTTTGCAAGGCTATTTTTCTTAGAAATCAGT
Celera SNP ID:                hCV27497355
SNP Position Transcript:      1734
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,72|T,48)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:482, None



Gene Number:                  94
Celera Gene:                  hCG2016249 - 104000117109679
Celera Transcript:            hCT2309027 - 104000117109688
Public Transcript Accession:  NM_002567
Celera Protein:               hCP1881404 - 197000069424668
Public Protein Accession:     NP_002558
Gene Symbol:                  PBP
Protein Name:                  prostatic binding protein
Celera Genomic Axis:          GA_x5YUV32W46Y(65822332..65844303)
Chromosome:                   12
OMIM NUMBER:                  604311
OMIM Information:


Transcript Sequence  (SEQ ID NO:222):
AAGTTTTCTGTAAAGACGGGGTCTTGCTACCTTGTCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATCTTCCTGCTTTGGCCTCCCAAAGTGCTGGGA
ATACAGGCATGAGCCACCGCGACAGGCCATGTTGCTGAATTTGGAAAGTGGAGCAAAGAATCATGCAAAAAATTAAGAAAACCAAAACGCAACCAAGGCG
AATTCAATTGCATTTTTTTTTCCCAGCGACACTTTCTGAGACACGAACCTCTCTCTTCGGCGAACCTATTCCAGGGCGCCCTTCATTTTCATTTCTTGAA
ACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGAGCAGGTTGCATGGACCCAGGAGCGCGAGAGGCCCTGCTCTGCCAGC
TTCGGCCAATCAGAGGCCAGGGAGCGGTGGGCGTGACGTGGGGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCT
GCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGC
CATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCG
GTGGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGG
TCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATGAAGGGCAATGACATCAGCAGTGG
CACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGT
GACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCA
CGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGC
CCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGTT
GAGGGTGACTTTTCCTGCTGCCTGGCCTTTATAATTTTACTCACTCACTCTGATTTATGTTTTGATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGT
ACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGC
AAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGCATCAGTAT
GTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGGCAGCAGCGCTCG
CTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAAAAGCTGGTCTGGAGTTGCTGAATGTTGCATTAA
TTGTGCTGTTTGCTTGTAGTTGAATAAAAATAGAAACCTGAATGAAGGAA


Protein Sequence     (SEQ ID NO:483):
MPVDLSKWSGPLSLQEVDEQPQHPLHVTYAGAAVDELGKVLTPTQVKNRPTSISWDGLDSGKLYTLVLTDPDAPSRKDPKYREWHHFLVVNMKGNDISSG
TVLSDYVGSGPPKGTGLHRYVWLVYEQDRPLKCDEPILSNRSGDHRGKFKVASFRKKYELRAPVAGTCYQAEWDDYVPKLYEQLSGK*



SNP Information


Context              (SEQ ID NO:4586):
CAAAGAATCATGCAAAAAATTAAGAAAACCAAAACGCAACCAAGGCGAATTCAATTGCATTTTTTTTTCCCAGCGACACTTTCTGAGACACGAACCTCTC
W
CTTCGGCGAACCTATTCCAGGGCGCCCTTCATTTTCATTTCTTGAAACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGA
Celera SNP ID:                hCV1427703
SNP Position Transcript:      254
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,4|A,2) ; no_pop(T,903|A,135)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4587):
GCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTG
M
ATGTCACCTACGCCGGGGCGGCGGTGGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGA
Celera SNP ID:                hCV27279143
SNP Position Transcript:      677
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 26,(H,CAT) (N,AAT)



Context              (SEQ ID NO:4588):
AAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGC
M
GCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCC
Celera SNP ID:                hDV69172706
SNP Position Transcript:      1149
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 183,(Q,CAG) (P,CCG)



Context              (SEQ ID NO:4589):
GGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCTGCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGC
K
CCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGG
Celera SNP ID:                hCV27851173
SNP Position Transcript:      553
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|T,0)  african american(G,29|T,1)  total(G,53|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4590):
GCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCA
R
GTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCGGTGGACGAGCTGGGCAAAGTG
Celera SNP ID:                hDV69172707
SNP Position Transcript:      621
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 7,(K,AAG) (R,AGG)



Context              (SEQ ID NO:4591):
CTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCGTCCTTC
M
GTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTA
Celera SNP ID:                hDV69172708
SNP Position Transcript:      1064
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 155,(R,CGT) (S,AGT)



Context              (SEQ ID NO:4592):
TTCATTTCTTGAAACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGAGCAGGTTGCATGGACCCAGGAGCGCGAGAGGCC
Y
TGCTCTGCCAGCTTCGGCCAATCAGAGGCCAGGGAGCGGTGGGCGTGACGTGGGGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTG
Celera SNP ID:                hCV27845253
SNP Position Transcript:      388
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,32)  african american(C,2|T,36)  total(C,2|T,68)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4593):
GGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCTGCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCT
Y
TGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCT
Celera SNP ID:                hCV7524024
SNP Position Transcript:      542
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,92) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4594):
GGGAAGCTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATGAAGG
R
CAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAG
Celera SNP ID:                hCV15851307
SNP Position Transcript:      882
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 94,(G,GGC) (D,GAC)



Context              (SEQ ID NO:4595):
TCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGAC
Y
ACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCC
Celera SNP ID:                hCV27279152
SNP Position Transcript:      1034
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,92|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 145,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:4596):
ACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCC
M
AAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTA
Celera SNP ID:                hDV69172709
SNP Position Transcript:      1135
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:483, 178,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4597):
ATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCGG
Y
GGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGGTC
Celera SNP ID:                hCV32400654
SNP Position Transcript:      702
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:483, 34,(A,GCG) (V,GTG)



Context              (SEQ ID NO:4598):
CACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAG
S
CCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGT
Celera SNP ID:                hCV27279153
SNP Position Transcript:      1199
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,92|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4599):
ATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGTACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAA
Y
TGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTACCTCCAACA
Celera SNP ID:                hCV7524527
SNP Position Transcript:      1465
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4600):
TATTTTGGTACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAG
W
GATAGAGCAAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGC
Celera SNP ID:                hCV27279154
SNP Position Transcript:      1492
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4601):
TTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCATCAAAGAATCTTTAAGG
R
AGGTTTAAAAAAAAAAAAAAAAAAAAAGATTACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGC
Celera SNP ID:                hCV8183410
SNP Position Transcript:      1524
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,130|G,58) ; no_pop(A,8|G,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4602):
AAAGATTACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAG
K
GTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGGCAGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGT
Celera SNP ID:                hCV27279155
SNP Position Transcript:      1649
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Context              (SEQ ID NO:4603):
AGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGG
Y
AGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAAAAGCTGGTCTGGAGTTGCTGAA
Celera SNP ID:                hCV27864515
SNP Position Transcript:      1689
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(C,898|T,586) ; no_pop(C,8|T,2) ; no_pop(C,74|T,46)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:483, None



Gene Number:                  94
Celera Gene:                  hCG2016249 - 104000117109679
Celera Transcript:            hCT2309028 - 104000117109680
Public Transcript Accession:  NM_002567
Celera Protein:               hCP1881403 - 197000069424667
Public Protein Accession:     NP_002558
Gene Symbol:                  PBP
Protein Name:                  prostatic binding protein
Celera Genomic Axis:          GA_x5YUV32W46Y(65822332..65844303)
Chromosome:                   12
OMIM NUMBER:                  604311
OMIM Information:


Transcript Sequence  (SEQ ID NO:223):
AAGTTTTCTGTAAAGACGGGGTCTTGCTACCTTGTCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATCTTCCTGCTTTGGCCTCCCAAAGTGCTGGGA
ATACAGGCATGAGCCACCGCGACAGGCCATGTTGCTGAATTTGGAAAGTGGAGCAAAGAATCATGCAAAAAATTAAGAAAACCAAAACGCAACCAAGGCG
AATTCAATTGCATTTTTTTTTCCCAGCGACACTTTCTGAGACACGAACCTCTCTCTTCGGCGAACCTATTCCAGGGCGCCCTTCATTTTCATTTCTTGAA
ACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGAGCAGGTTGCATGGACCCAGGAGCGCGAGAGGCCCTGCTCTGCCAGC
TTCGGCCAATCAGAGGCCAGGGAGCGGTGGGCGTGACGTGGGGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCT
GCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGC
CATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCG
GTGGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGG
TCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATGAAGGGCAATGACATCAGCAGTGG
CACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGT
GACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCA
CGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGC
CCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGTT
GAGGGTGACTTTTCCTGCTGCCTGGCCTTTATAATTTTACTCACTCACTCTGATTTATGTTTTGATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGT
ACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGC
AAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCTGCCTTTGTGATCCTGAGTCCAGAATGGTACACAAT
GTGATTTTATGGTGATGTCACTCACCTAGACAACCAGAGGCTGGCATTGAGGCTAACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGCATCAGTAT
GTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGGCAGCAGCGCTCG
CTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAAAAGCTGGTCTGGAGTTGCTGAATGTTGCATTAA
TTGTGCTGTTTGCTTGTAGTTGAATAAAAATAGAAACCTGAATGAAGGAA


Protein Sequence     (SEQ ID NO:484):
MPVDLSKWSGPLSLQEVDEQPQHPLHVTYAGAAVDELGKVLTPTQVKNRPTSISWDGLDSGKLYTLVLTDPDAPSRKDPKYREWHHFLVVNMKGNDISSG
TVLSDYVGSGPPKGTGLHRYVWLVYEQDRPLKCDEPILSNRSGDHRGKFKVASFRKKYELRAPVAGTCYQAEWDDYVPKLYEQLSGK*



SNP Information


Context              (SEQ ID NO:4604):
CAAAGAATCATGCAAAAAATTAAGAAAACCAAAACGCAACCAAGGCGAATTCAATTGCATTTTTTTTTCCCAGCGACACTTTCTGAGACACGAACCTCTC
W
CTTCGGCGAACCTATTCCAGGGCGCCCTTCATTTTCATTTCTTGAAACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGA
Celera SNP ID:                hCV1427703
SNP Position Transcript:      254
SNP Source:                   Celera; HapMap
Population(Allele,Count):     no_pop(T,4|A,2) ; no_pop(T,903|A,135)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4605):
GCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTG
M
ATGTCACCTACGCCGGGGCGGCGGTGGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGA
Celera SNP ID:                hCV27279143
SNP Position Transcript:      677
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,92|A,-) ; no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 26,(H,CAT) (N,AAT)



Context              (SEQ ID NO:4606):
AAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGC
M
GCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCC
Celera SNP ID:                hDV69172706
SNP Position Transcript:      1149
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 183,(Q,CAG) (P,CCG)



Context              (SEQ ID NO:4607):
GGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCTGCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGC
K
CCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGG
Celera SNP ID:                hCV27851173
SNP Position Transcript:      553
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,24|T,0)  african american(G,29|T,1)  total(G,53|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4608):
GCTGAGCTCTCCGCGTCGCCTCTGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCA
R
GTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCGGTGGACGAGCTGGGCAAAGTG
Celera SNP ID:                hDV69172707
SNP Position Transcript:      621
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 7,(K,AAG) (R,AGG)



Context              (SEQ ID NO:4609):
CTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGACCACCGTGGCAAATTCAAGGTGGCGTCCTTC
M
GTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTA
Celera SNP ID:                hDV69172708
SNP Position Transcript:      1064
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 155,(R,CGT) (S,AGT)



Context              (SEQ ID NO:4610):
TTCATTTCTTGAAACAACAGCCTTGCAGGCCGAGCCGCTGTTCCCGAGAACTCGGCAGCCACAGGGAGCAGGTTGCATGGACCCAGGAGCGCGAGAGGCC
Y
TGCTCTGCCAGCTTCGGCCAATCAGAGGCCAGGGAGCGGTGGGCGTGACGTGGGGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTG
Celera SNP ID:                hCV27845253
SNP Position Transcript:      388
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,0|T,32)  african american(C,2|T,36)  total(C,2|T,68)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4611):
GGCGGTGCGCGGGGCTGGGCGGCGGCTGAGGCGCGTGCTCTCGCGTGGTCGCTGGGTCTGCGTCTTCCCGAGCCAGTGTGCTGAGCTCTCCGCGTCGCCT
Y
TGTCGCCCGCGCCTGGCCTACCGCGGCACTCCCGGCTGCACGCTCTGCTTGGCCTCGCCATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCT
Celera SNP ID:                hCV7524024
SNP Position Transcript:      542
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,92) ; no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4612):
GGGAAGCTCTACACCTTGGTCCTGACAGACCCGGATGCTCCCAGCAGGAAGGATCCCAAATACAGAGAATGGCATCATTTCCTGGTGGTCAACATGAAGG
R
CAATGACATCAGCAGTGGCACAGTCCTCTCCGATTATGTGGGCTCGGGGCCTCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAG
Celera SNP ID:                hCV15851307
SNP Position Transcript:      882
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 94,(G,GGC) (D,GAC)



Context              (SEQ ID NO:4613):
TCCCAAGGGCACAGGCCTCCACCGCTATGTCTGGCTGGTTTACGAGCAGGACAGGCCGCTAAAGTGTGACGAGCCCATCCTCAGCAACCGATCTGGAGAC
Y
ACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCC
Celera SNP ID:                hCV27279152
SNP Position Transcript:      1034
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,92|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 145,(H,CAC) (Y,TAC)



Context              (SEQ ID NO:4614):
ACCGTGGCAAATTCAAGGTGGCGTCCTTCCGTAAAAAGTATGAGCTCAGGGCCCCGGTGGCTGGCACGTGTTACCAGGCCGAGTGGGATGACTATGTGCC
M
AAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAGGCCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTA
Celera SNP ID:                hDV69172709
SNP Position Transcript:      1135
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:484, 178,(P,CCC) (P,CCA)



Context              (SEQ ID NO:4615):
ATGCCGGTGGACCTCAGCAAGTGGTCCGGGCCCTTGAGCCTGCAAGAAGTGGACGAGCAGCCGCAGCACCCGCTGCATGTCACCTACGCCGGGGCGGCGG
Y
GGACGAGCTGGGCAAAGTGCTGACGCCCACCCAGGTTAAGAATAGACCCACCAGCATTTCGTGGGATGGTCTTGATTCAGGGAAGCTCTACACCTTGGTC
Celera SNP ID:                hCV32400654
SNP Position Transcript:      702
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:484, 34,(A,GCG) (V,GTG)



Context              (SEQ ID NO:4616):
CACGTGTTACCAGGCCGAGTGGGATGACTATGTGCCCAAACTGTACGAGCAGCTGTCTGGGAAGTAGGGGGTTAGCTTGGGGACCTGAACTGTCCTGGAG
S
CCCCAAGCCATGTTCCCCAGTTCAGTGTTGCATGTATAATAGATTTCTCCTCTTCCTGCCCCCCTTGGCATGGGTGAGACCTGACCAGTCAGATGGTAGT
Celera SNP ID:                hCV27279153
SNP Position Transcript:      1199
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,92|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4617):
ATCAAATTTGAACTTCATTTTGGGGGGTATTTTGGTACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAA
Y
TGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCT
Celera SNP ID:                hCV7524527
SNP Position Transcript:      1465
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4618):
TATTTTGGTACTGTGATGGGGTCATCAAATTATTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAG
W
GATAGAGCAAAGCATCAAAGAATCTTTAAGGAAGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCTGCCTTTGTGATCCTGAGTCCAGAATGG
Celera SNP ID:                hCV27279154
SNP Position Transcript:      1492
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4619):
TTAATCTGAAAATAGCAACCCAGAATGTAAAAAAGAAAAAACTGGGGGGAAAAAGACCAGGTCTACAGTGATAGAGCAAAGCATCAAAGAATCTTTAAGG
R
AGGTTTAAAAAAAAAAAAAAAAAAAAAGATTGGTTGCCTCTGCCTTTGTGATCCTGAGTCCAGAATGGTACACAATGTGATTTTATGGTGATGTCACTCA
Celera SNP ID:                hCV8183410
SNP Position Transcript:      1524
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,130|G,58) ; no_pop(A,8|G,3)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4620):
GAGGCTAACCTCCAACACAGTGCATCTCAGATGCCTCAGTAGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAG
K
GTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGGCAGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGT
Celera SNP ID:                hCV27279155
SNP Position Transcript:      1749
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Context              (SEQ ID NO:4621):
AGGCATCAGTATGTCACTCTGGTCCCTTTAAAGAGCAATCCTGGAAGAAGCAGGAGGGAGGGTGGCTTTGCTGTTGTTGGGACATGGCAATCTAGACCGG
Y
AGCAGCGCTCGCTGACAGCTTGGGAGGAAACCTGAGATCTGTGTTTTTTAAATTGATCGTTCTTCATGGGGGTAAGAAAAGCTGGTCTGGAGTTGCTGAA
Celera SNP ID:                hCV27864515
SNP Position Transcript:      1789
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(C,898|T,586) ; no_pop(C,8|T,2) ; no_pop(C,74|T,46)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:484, None



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309029 - 104000117109633
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881396 - 197000069424660
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:224):
CAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCA
CCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTT
CCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCC
AGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACCTCAGCCCGGGGCTGCACTGCCACCC
TGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTA
TCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGA
AAAATAAAGTGAATTAAGCGT


Protein Sequence     (SEQ ID NO:485):
MADDAGAAGGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGASLKDEVLKIMPVQKQTRRCGSVLVRLIPAPR
GTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4622):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      563
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:485, 187,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4623):
CAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      76
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:485, 25,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4624):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGCCGCTGCGGCT
Celera SNP ID:                hCV26060511
SNP Position Transcript:      171
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:485, 56,(P,CCC) (P,CCT)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309030 - 104000117109596
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881390 - 197000069424654
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:225):
AATTGCTTCTTTTCCGAGAAAACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGC
TTCCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATC
TCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGAC
CCGTGCCGGCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACC
GCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCA
AGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGAT
GGCTGGTATCGATGACTGCTACACCTCAGCCCGGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGC
TACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGC
AGCGGACTCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACC
AGAATAT


Protein Sequence     (SEQ ID NO:486):
MADDAGAAGGHGGPGGPGMGNRGGFRGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGASLKDEVLKIMPVQKQTRAGQRTRFK
AFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDCYTS
ARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4625):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      813
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:486, 262,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4626):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      472
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:486, 148,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4627):
AAAACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      119
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:486, 31,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4628):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      214
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:486, 62,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4629):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      308
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:486, 94,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309031 - 104000117109614
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881393 - 197000069424657
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:226):
CAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGGTTTCGGCAGTG
GCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCAA
GTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTG
GGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGCTCTCCATTGTCCCCGTGCGCAGAGG
CTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGC
ACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCT
CCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATA
CAAGAAAAATAAAGTGAATTAAGCGTGA


Protein Sequence     (SEQ ID NO:487):
MADDAGAAGGHGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGA
SLKDEVLKIMPVQKQTRAGQRTSSPLSPCAEATGGTRSASPTLSLAR*



SNP Information


Context              (SEQ ID NO:4630):
GATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      416
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:487, 137,(R,AGA) (I,ATA)



Context              (SEQ ID NO:4631):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      172
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:487, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4632):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      267
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:487, 87,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4633):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGC
Celera SNP ID:                hCV26060510
SNP Position Transcript:      361
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:487, 119,(G,GGC) (S,AGC)



Context              (SEQ ID NO:4634):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGA
Celera SNP ID:                hCV26060509
SNP Position Transcript:      668
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:487, None



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309032 - 104000117109621
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881394 - 197000069424658
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:227):
ACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGCTCGCGGAGGC
AAGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGC
CCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCA
GCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGG
GCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCC
GCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGA
TGACTGCTACACCTCAGCCCGGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCC
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
CTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT


Protein Sequence     (SEQ ID NO:488):
MADDAGAAGGHGGPGGPGMGNRGGFRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGASLKDEVLKIMPVQKQTRAGQRT
RFKAFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDC
YTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4635):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      801
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:488, 265,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4636):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      460
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:488, 151,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4637):
AATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      107
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:488, 34,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4638):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      202
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:488, 65,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4639):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      296
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:488, 97,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309033 - 104000117109579
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881387 - 197000069424651
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:228):
AATTGCTTCTTTTCCGAGAAAACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGC
TTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATA
AGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATC
AGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGGTTC
AAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGG
CCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGT
GCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACC
TCAGCCCGGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGG
AGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGC
TACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT


Protein Sequence     (SEQ ID NO:489):
MADDAGAAGGHGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGA
SLKDEVLKIMPVQKQTRAGQRTRFKAFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPR
GTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4640):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      888
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:489, 287,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4641):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      547
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:489, 173,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4642):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      194
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:489, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4643):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      289
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:489, 87,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4644):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      383
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:489, 119,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309034 - 104000117109590
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881389 - 197000069424653
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:229):
AAAACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGGTTTCGGC
AGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGAATCAGAGATCAT
TGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGGTTCAAGGCGTTT
GTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCT
CCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCG
CCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACCTCAGCCCGG
GGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTAT
TTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGCTACAACATA
GGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT


Protein Sequence     (SEQ ID NO:490):
MPVQKQTRAGQRTRFKAFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPV
PKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4645):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      779
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:490, 178,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4646):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      438
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:490, 64,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4647):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGC
Celera SNP ID:                hCV7443553
SNP Position Transcript:      176
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:490, None



Context              (SEQ ID NO:4648):
CCGAGGATAAGGAGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      274
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:490, 10,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309035 - 104000117109627
Public Transcript Accession:
Celera Protein:               hCP1881395 - 197000069424659
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:230):
ATGGGGAACCGCGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCG
GAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTC
CCTGCCCATTAAGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGT
GGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAG
GCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTAT
CGATGACTGCTACACCTCAGCCCGGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACC
CCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTC
AGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT


Protein Sequence     (SEQ ID NO:491):
MGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKFKAFVAIGDYNGHVGLGVKCSKEVATAIR
GAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLT
PDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4649):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      704
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:491, 235,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4650):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      363
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:491, 121,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4651):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      112
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:491, 38,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4652):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCA
Celera SNP ID:                hCV26060511
SNP Position Transcript:      207
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:491, 69,(P,CCC) (P,CCT)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309036 - 104000117109584
Public Transcript Accession:
Celera Protein:               hCP1881388 - 197000069424652
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:231):
ACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGGTTTCGGCAGT
GGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCA
AGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCT
GGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGG
GACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCG
TGCGCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGC
ACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACCTCAGCCCGGGGCTGCACTGCC
ACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTC
CCTATCAGGAGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTG


Protein Sequence     (SEQ ID NO:492):
MADDAGAAGGHGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGA
SLKDEVLKIMPVQKQTRAGQRTRFKAFVAIGDYNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPR
GTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQELQLWLQHRVFIQEK*



SNP Information


Context              (SEQ ID NO:4653):
CTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTG
Celera SNP ID:                hCV26060509
SNP Position Transcript:      812
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:492, 269,(L,CTC) (I,ATC)



Context              (SEQ ID NO:4654):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      526
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:492, 173,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4655):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      173
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:492, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4656):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      268
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:492, 87,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4657):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      362
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:492, 119,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309037 - 104000117109602
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881391 - 197000069424655
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:232):
AATTGCTTCTTTTCCGAGAAAACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGC
TTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATA
AGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATC
AGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGCCGCTGCGGCTCTGTGCTGGTG
CGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACCTCAGCCC
GGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGT
ATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGCTACAACA
TAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGT


Protein Sequence     (SEQ ID NO:493):
MADDAGAAGGHGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGA
SLKDEVLKIMPVQKQTRRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDCYTSARGCTATLGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEF
TDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4658):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      681
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:493, 218,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4659):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      194
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:493, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4660):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGCCGCTGCGGCT
Celera SNP ID:                hCV26060511
SNP Position Transcript:      289
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:493, 87,(P,CCC) (P,CCT)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309038 - 104000117109640
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881397 - 197000069424661
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:233):
ATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGT
TGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGG
GGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGAC
TACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGC
GCAGAGGCTACTGGGGGAACAAGATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACC
CAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTGCTACACCTCAGCCCGGGGCTGCACTGCCACC
CTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCT
ATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAGCTGTGGCTACAACATAGGGTTTTTATACAAG
AAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT


Protein Sequence     (SEQ ID NO:494):
MADDAGAAGGHGGPGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGASLKDEVLKIMPVQKQTRAGQRTRFKAFVAIGD
YNGHVGLGVKCSKEVATAIRGAIILAKLSIVPVRRGYWGNKIGKPHTVPCKVTGRCGSVLVRLIPAPRGTGIVSAPVPKKLLMMAGIDDCYTSARGCTAT
LGNFAKATFDAISKTYSYLTPDLWKETVFTKSPYQEFTDHLVKTHTRVSVQRTQAPAVATT*



SNP Information


Context              (SEQ ID NO:4661):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAAAAAAATTATAAAAGAATTTATACCAGAATAT
Celera SNP ID:                hCV26060509
SNP Position Transcript:      764
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:494, 255,(A,GCT) (D,GAT)



Context              (SEQ ID NO:4662):
GTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCGTGGGGCCATCATCCTGGCCAAGCTCTCCATTGTCCCCGTGCGCAGAGGCTACTGGGGGAACAA
K
ATCGGCAAGCCCCACACTGTCCCTTGCAAGGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCG
Celera SNP ID:                hDV69060414
SNP Position Transcript:      423
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:494, 141,(K,AAG) (N,AAT)



Context              (SEQ ID NO:4663):
ATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      70
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:494, 24,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4664):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      165
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:494, 55,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4665):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTTTGTTGCTATCGGGGACTACAATGGCCACGTCGGTCTGGGTGTTAAGTGCTCCAAGGAGGTGGCCACCGCCATCCG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      259
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:494, 87,(G,GGC) (S,AGC)



Gene Number:                  95
Celera Gene:                  hCG2016250 - 104000117109578
Celera Transcript:            hCT2309039 - 104000117109608
Public Transcript Accession:  NM_002952
Celera Protein:               hCP1881392 - 197000069424656
Public Protein Accession:     NP_002943
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(65934638..65947620)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:234):
ACAACAAATGGCGGATGACGCCGGTGCAGCGGGGGGGCACGGAGGCCCTGGTGGCCCTGGGATGGGGAACCGCGGTGGCTTCCGCGGAGGTTTCGGCAGT
GGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCCGAGGATAAGGAGTGGATGCCCGTCACCA
AGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCT
GGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGCGCACCAGGTTCAAGGCGTGACAGGCCGCTGCG
GCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTGCCTAAGAAGCTGCTCATGATGGCTGGTATCGATGACTG
CTACACCTCAGCCCGGGGCTGCACTGCCACCCTGGGCAACTTCGCCAAGGCCACCTTTGATGCCATTTCTAAGACCTACAGCTACCTGACCCCCGACCTC
TGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGGCTCCAG
CTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAA


Protein Sequence     (SEQ ID NO:495):
MADDAGAAGGHGGPGGPGMGNRGGFRGGFGSGIRGRGRGRGRGRGRGRGARGGKAEDKEWMPVTKLGRLVKDMKIKSLEEIYLFSLPIKESEIIDFFLGA
SLKDEVLKIMPVQKQTRAGQRTRFKA*



SNP Information


Context              (SEQ ID NO:4666):
CGGTGGCTTCCGCGGAGGTTTCGGCAGTGGCATCCGGGGCCGGGGTCGCGGCCGTGGACGGGGCCGGGGCCGAGGCCGCGGAGCTCGCGGAGGCAAGGCC
R
AGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCCCATTAA
Celera SNP ID:                hCV7443553
SNP Position Transcript:      173
SNP Source:                   CDX
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:495, 56,(E,GAG) (K,AAG)



Context              (SEQ ID NO:4667):
AGGCCGAGGATAAGGAGTGGATGCCCGTCACCAAGTTGGGCCGCTTGGTCAAGGACATGAAGATCAAGTCCCTGGAGGAGATCTATCTCTTCTCCCTGCC
Y
ATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCCGGCCAGC
Celera SNP ID:                hCV26060511
SNP Position Transcript:      268
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:495, 87,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4668):
CCTGCCCATTAAGGAATCAGAGATCATTGATTTCTTCCTGGGGGCCTCTCTCAAGGATGAGGTTTTGAAGATTATGCCAGTGCAGAAGCAGACCCGTGCC
R
GCCAGCGCACCAGGTTCAAGGCGTGACAGGCCGCTGCGGCTCTGTGCTGGTGCGCCTCATCCCTGCACCCAGGGGCACTGGCATCGTCTCCGCACCTGTG
Celera SNP ID:                hCV26060510
SNP Position Transcript:      362
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:495, 119,(G,GGC) (S,AGC)



Context              (SEQ ID NO:4669):
GACCTCTGGAAGGAGACTGTATTTACCAAGTCTCCCTATCAGGAATTCACTGACCACCTCGTTAAGACCCACACCAGAGTCTCCGTGCAGCGGACTCAGG
M
TCCAGCTGTGGCTACAACATAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGTGAAAA
Celera SNP ID:                hCV26060509
SNP Position Transcript:      695
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,7|A,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:495, None



Gene Number:                  96
Celera Gene:                  hCG2033470 - 30000035110825
Celera Transcript:            hCT2336365 - 30000035110828
Public Transcript Accession:  NM_001004750
Celera Protein:               hCP1861747 - 30000035110819
Public Protein Accession:     NP_001004750
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(45520573..45533512)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:235):
ATGGGGCTCAATAAGTCTGCTTCCACCTTCCAGCTTACTGGCTTCCCAGGCATGGAGAAGGCACATCACTGGATATTCATCCCATTATTGGCAGCCTACA
TCTCCATACTTCTTGGCAGTGGCACTCTTCTCTTTCTCATCAGGAATGATCATAACCTCCATGAGCCCATGTACTATTTCTTAGCTATGTTGGCAGCTAC
AGACCTCGGAGTGACATTGACCACAATGCCCACAGTGCTAGGTGTTCTGTGGTTAGATCACAGGGAGATTGGCCATGGAGCCTGCTTCTCTCAGGCCTAT
TTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACCATCCACAACCCCTTAAGATATACCTCTATCC
TGACCAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTTCGCCTACACTGGTTTCCCTACTG
TCGATCCCATGTACTCTCCCATGCTTTCTGTCTACACCAAGATGTCATCAAGCTAGCCTGTGCTGACATCACCTTCAACCGTCTCTATCCAGTTGTAGTT
TTATTTGCAATGGTCTTGTTGGACTTTCTCATCATCTTTTTCTCCTACATTTTGATTCTCAAGACTGTCATGGGCATTGGTTCTGGAGGAGAAAGGGCCA
AGGCCCTCAACACATGTGTCTCTCATATCTGCTGCATCCTGGTCTTCTATGTCACTGTAGTTTGTCTGACATTTATTCATAGGTTTGGAAAGCATGTTCC
TCATGTCGTTCACATCACAATGAGCTACATCCACTTCCTTTTCCCACCTTTTATGAACCCATTTATCTATAGCATTAAAACTAAGCAGATTCAGAGTGGC
ATACTTCGTTTATTCTCTCTGCCTCACTCTAGAGCATGA


Protein Sequence     (SEQ ID NO:496):
MGLNKSASTFQLTGFPGMEKAHHWIFIPLLAAYISILLGSGTLLFLIRNDHNLHEPMYYFLAMLAATDLGVTLTTMPTVLGVLWLDHREIGHGACFSQAY
FIHTLSVMESGVLLAMAYDCFITIHNPLRYTSILTNTQVMKIGVRVLTRAGLSIMPIVVRLHWFPYCRSHVLSHAFCLHQDVIKLACADITFNRLYPVVV
LFAMVLLDFLIIFFSYILILKTVMGIGSGGERAKALNTCVSHICCILVFYVTVVCLTFIHRFGKHVPHVVHITMSYIHFLFPPFMNPFIYSIKTKQIQSG
ILRLFSLPHSRA*



SNP Information


Context              (SEQ ID NO:4670):
ATGTACTATTTCTTAGCTATGTTGGCAGCTACAGACCTCGGAGTGACATTGACCACAATGCCCACAGTGCTAGGTGTTCTGTGGTTAGATCACAGGGAGA
Y
TGGCCATGGAGCCTGCTTCTCTCAGGCCTATTTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACC
Celera SNP ID:                hCV29039261
SNP Position Transcript:      269
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 90,(I,ATT) (T,ACT)



Context              (SEQ ID NO:4671):
GGAGCCTGCTTCTCTCAGGCCTATTTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACCATCCACA
R
CCCCTTAAGATATACCTCTATCCTGACCAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTT
Celera SNP ID:                hCV27915385
SNP Position Transcript:      377
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 126,(N,AAC) (S,AGC)



Context              (SEQ ID NO:4672):
GATTGGCCATGGAGCCTGCTTCTCTCAGGCCTATTTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATT
R
CCATCCACAACCCCTTAAGATATACCTCTATCCTGACCAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCC
Celera SNP ID:                hCV28011820
SNP Position Transcript:      367
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 123,(T,ACC) (A,GCC)



Context              (SEQ ID NO:4673):
GGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTTCGCCTACACTGGTTTCCCTACTGTCGATCCCATGTA
Y
TCTCCCATGCTTTCTGTCTACACCAAGATGTCATCAAGCTAGCCTGTGCTGACATCACCTTCAACCGTCTCTATCCAGTTGTAGTTTTATTTGCAATGGT
Celera SNP ID:                hCV27915386
SNP Position Transcript:      514
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 172,(L,CTC) (F,TTC)



Context              (SEQ ID NO:4674):
TGTTCGCCTACACTGGTTTCCCTACTGTCGATCCCATGTACTCTCCCATGCTTTCTGTCTACACCAAGATGTCATCAAGCTAGCCTGTGCTGACATCACC
Y
TCAACCGTCTCTATCCAGTTGTAGTTTTATTTGCAATGGTCTTGTTGGACTTTCTCATCATCTTTTTCTCCTACATTTTGATTCTCAAGACTGTCATGGG
Celera SNP ID:                hCV28033568
SNP Position Transcript:      574
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 192,(F,TTC) (L,CTC)



Context              (SEQ ID NO:4675):
CAAGACTGTCATGGGCATTGGTTCTGGAGGAGAAAGGGCCAAGGCCCTCAACACATGTGTCTCTCATATCTGCTGCATCCTGGTCTTCTATGTCACTGTA
S
TTTGTCTGACATTTATTCATAGGTTTGGAAAGCATGTTCCTCATGTCGTTCACATCACAATGAGCTACATCCACTTCCTTTTCCCACCTTTTATGAACCC
Celera SNP ID:                hCV29039263
SNP Position Transcript:      760
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 254,(V,GTT) (L,CTT)



Context              (SEQ ID NO:4676):
ATGGGGCTCAATA
M
GTCTGCTTCCACCTTCCAGCTTACTGGCTTCCCAGGCATGGAGAAGGCACATCACTGGATATTCATCCCATTATTGGCAGCCTACATCTCCATACTTCTT
Celera SNP ID:                hCV27946587
SNP Position Transcript:      14
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 5,(K,AAG) (T,ACG)



Context              (SEQ ID NO:4677):
CAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTTCGCCTACACTGGTTTCCCTACTGTCGA
K
CCCATGTACTCTCCCATGCTTTCTGTCTACACCAAGATGTCATCAAGCTAGCCTGTGCTGACATCACCTTCAACCGTCTCTATCCAGTTGTAGTTTTATT
Celera SNP ID:                hCV28011821
SNP Position Transcript:      505
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 169,(S,TCC) (A,GCC)



Context              (SEQ ID NO:4678):
CATGGAGCCTGCTTCTCTCAGGCCTATTTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACCATCC
R
CAACCCCTTAAGATATACCTCTATCCTGACCAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTT
Celera SNP ID:                hCV29039262
SNP Position Transcript:      374
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 125,(H,CAC) (R,CGC)



Context              (SEQ ID NO:4679):
CCTTCCAGCTTACTGGCTTCCCAGGCATGGAGAAGGCACATCACTGGATATTCATCCCATTATTGGCAGCCTACATCTCCATACTTCTTGGCAGTGGCAC
W
CTTCTCTTTCTCATCAGGAATGATCATAACCTCCATGAGCCCATGTACTATTTCTTAGCTATGTTGGCAGCTACAGACCTCGGAGTGACATTGACCACAA
Celera SNP ID:                hCV30940435
SNP Position Transcript:      126
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:496, 42,(T,ACT) (T,ACA)



Context              (SEQ ID NO:4680):
CAGGCCTATTTTATCCATACTCTTTCTGTCATGGAGTCAGGTGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACCATCCACAACCCCTTAAGATATA
Y
CTCTATCCTGACCAACACCCAGGTAATGAAGATTGGTGTGCGGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTTCGCCTACACTGGTTT
Celera SNP ID:                hCV27968328
SNP Position Transcript:      392
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 131,(T,ACC) (I,ATC)



Context              (SEQ ID NO:4681):
ATATCTGCTGCATCCTGGTCTTCTATGTCACTGTAGTTTGTCTGACATTTATTCATAGGTTTGGAAAGCATGTTCCTCATGTCGTTCACATCACAATGAG
M
TACATCCACTTCCTTTTCCCACCTTTTATGAACCCATTTATCTATAGCATTAAAACTAAGCAGATTCAGAGTGGCATACTTCGTTTATTCTCTCTGCCTC
Celera SNP ID:                hCV27903499
SNP Position Transcript:      825
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 275,(S,AGC) (R,AGA)



Context              (SEQ ID NO:4682):
TTCACATCACAATGAGCTACATCCACTTCCTTTTCCCACCTTTTATGAACCCATTTATCTATAGCATTAAAACTAAGCAGATTCAGAGTGGCATACTTCG
Y
TTATTCTCTCTGCCTCACTCTAGAGCATGA
Celera SNP ID:                hCV29039264
SNP Position Transcript:      909
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:496, 303,(R,CGT) (R,CGC)



Context              (SEQ ID NO:4683):
GCTTCCACCTTCCAGCTTACTGGCTTCCCAGGCATGGAGAAGGCACATCACTGGATATTCATCCCATTATTGGCAGCCTACATCTCCATACTTCTTGGCA
R
TGGCACTCTTCTCTTTCTCATCAGGAATGATCATAACCTCCATGAGCCCATGTACTATTTCTTAGCTATGTTGGCAGCTACAGACCTCGGAGTGACATTG
Celera SNP ID:                hCV27915384
SNP Position Transcript:      119
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,20|A,100)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 40,(S,AGT) (N,AAT)



Context              (SEQ ID NO:4684):
TGTCTTGCTTGCCATGGCTTATGACTGTTTCATTACCATCCACAACCCCTTAAGATATACCTCTATCCTGACCAACACCCAGGTAATGAAGATTGGTGTG
S
GGGTATTGACAAGGGCTGGTCTGTCCATTATGCCAATAGTTGTTCGCCTACACTGGTTTCCCTACTGTCGATCCCATGTACTCTCCCATGCTTTCTGTCT
Celera SNP ID:                hCV27989890
SNP Position Transcript:      433
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:496, 145,(R,CGG) (G,GGG)



Context              (SEQ ID NO:4685):
ACTGTCGATCCCATGTACTCTCCCATGCTTTCTGTCTACACCAAGATGTCATCAAGCTAGCCTGTGCTGACATCACCTTCAACCGTCTCTATCCAGTTGT
R
GTTTTATTTGCAATGGTCTTGTTGGACTTTCTCATCATCTTTTTCTCCTACATTTTGATTCTCAAGACTGTCATGGGCATTGGTTCTGGAGGAGAAAGGG
Celera SNP ID:                hCV27989891
SNP Position Transcript:      597
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:496, 199,(V,GTA) (V,GTG)



Gene Number:                  97
Celera Gene:                  hCG2036649 - 207000006054796
Celera Transcript:            hCT2340720 - 207000006054755
Public Transcript Accession:
Celera Protein:               hCP1907304 - 207000006054762
Public Protein Accession:
Gene Symbol:                  DKFZp451J0118
Protein Name:                  taxilin
Celera Genomic Axis:          GA_x5YUV32W802(50941403..50975749)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:236):
CCATCGGACGTCGGCGGTGAGGATCTTCTCCTGACCCAGCATCGCTCATCACAATGAAGAACCAAGACAAAAAGAACGGGGCTGCCAAACAATCCAATCC
AAAAAGCAGCCCAGGACAACCGGAAGCAGGACCCGAGGGAGCCCAGGAGCGGCCCAGCCAGGCGGCTCCTGCAGTAGAAGCAGAAGGTCCCGGCAGCAGC
CAGGCTCCTCGGAAGCCGGAGGGGGCTCAAGCCAGAACGGCTCAGTCTGGGGCCCTTCGTGATGTCTCTGAGGAGCTGAGCCGCCAACTGGAAGACATAC
TGAGCACATACTGTGTGGACAATAACCAGGGGGGCCCCGGCGAGGATGGGGCACAGGGTGAGCCGGCTGAACCCGAAGATGCAGAGAAGTCCCGGACCTA
TGTGGCAAGGAATGGGGAGCCTGAACCAACTCCAGTAGTCAATGGAGAGAAGGAACCCTCCAAGGGGGATCCAAACACAGAAGAGATCCGGCAGAGTGAC
GAGGTCGGAGACCGAGACCATCGAAGGCCACAGGAGAAGAAAAAAGCCAAGGGTTTGGGGAAGGAGATCACGTTGCTGATGCAGACATTGAATACTCTGA
GTACCCCAGAGGAGAAGCTGGCTGCTCTGTGCAAGAAGTATGCTGAACTGCTGGAGGAGCACCGGAATTCACAGAAGCAGATGAAGCTCCTACAGAAAAA
GCAGAGCCAGCTGGTGCAAGAGAAGGACCACCTGCGCGGTGAGCACAGCAAGGCCGTCCTGGCCCGCAGCAAGCTTGAGAGCCTATGCCGTGAGCTGCAG
CGGCACAACCGCTCCCTCAAGGAAGAAGGTGTGCAGCGGGCCCGGGAGGAGGAGGAGAAGCGCAAGGAGGTGACCTCGCACTTCCAGGTGACACTGAATG
ACATTCAGCTGCAGATGGAACAGCACAATGAGCGCAACTCCAAGCTGCGCCAAGAGAACATGGAGCTGGCTGAGAGGCTCAAGAAGCTGATTGAGCAGTA
TGAGCTGCGCGAGGAGCATATCGACAAAGTCTTCAAACACAAGGACCTACAACAGCAGCTGGTGGATGCCAAGCTCCAGCAGGCCCAGGAGATGCTAAAG
GAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTCTCCTGAAAGAGGCAGTAGAGTCCCAGAGGATGTGTGAGCTGATGAAGCAGCAAGAGACCCACC
TGAAGCAACAGCTTGCCCTATACACAGAGAAGTTTGAGGAGTTCCAGAACACACTTTCCAAAAGCAGCGAGGTATTCACCACATTCAAGCAGGAGATGGA
AAAGATGACTAAGAAGATCAAGAAGCTGGAGAAAGAAACCACCATGTACCGGTCCCGGTGGGAGAGCAGCAACAAGGCCCTGCTTGAGATGGCTGAGGAG
AAAACAGTCCGGGATAAAGAACTGGAGGGCCTGCAGGCCTGAGGCCCAGCCAGCGCCCAATGGATGACAAAAAGAAGAAACGGAGTCCCAAGCCCTGCCT
GGCCCAGCCAGCCCAGGCCCCAGGCACACTACGGAGGGTCCCTGTGCCT


Protein Sequence     (SEQ ID NO:497):
MKNQDKKNGAAKQSNPKSSPGQPEAGPEGAQERPSQAAPAVEAEGPGSSQAPRKPEGAQARTAQSGALRDVSEELSRQLEDILSTYCVDNNQGGPGEDGA
QGEPAEPEDAEKSRTYVARNGEPEPTPVVNGEKEPSKGDPNTEEIRQSDEVGDRDHRRPQEKKKAKGLGKEITLLMQTLNTLSTPEEKLAALCKKYAELL
EEHRNSQKQMKLLQKKQSQLVQEKDHLRGEHSKAVLARSKLESLCRELQRHNRSLKEEGVQRAREEEEKRKEVTSHFQVTLNDIQLQMEQHNERNSKLRQ
ENMELAERLKKLIEQYELREEHIDKVFKHKDLQQQLVDAKLQQAQEMLKEAEERHQREKDFLLKEAVESQRMCELMKQQETHLKQQLALYTEKFEEFQNT
LSKSSEVFTTFKQEMEKMTKKIKKLEKETTMYRSRWESSNKALLEMAEEKTVRDKELEGLQA*



SNP Information


Context              (SEQ ID NO:4686):
TGCAGGCCTGAGGCCCAGCCAGCGCCCAATGGATGACAAAAAGAAGAAACGGAGTCCCAAGCCCTGCCTGGCCCAGCCAGCCCAGGCCCCAGGCACACTA
Y
GGAGGGTCCCTGTGCCT
Celera SNP ID:                hCV8853882
SNP Position Transcript:      1532
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,34|T,4)  total(C,74|T,4)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:497, None

SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,546|T,6) ; no_pop(C,18|T,2) ; no_pop(C,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:497, None



Gene Number:                  97
Celera Gene:                  hCG2036649 - 207000006054796
Celera Transcript:            hCT2340721 - 207000006054797
Public Transcript Accession:  NM_175852
Celera Protein:               hCP1907307 - 207000006054757
Public Protein Accession:     NP_787048
Gene Symbol:                  DKFZp451J0118
Protein Name:                  taxilin
Celera Genomic Axis:          GA_x5YUV32W802(50941403..50975749)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:237):
GGCTGAGGCGGGAGCAGGCGGCTGGCCGGCAGCAGTTACTCGGGGTTTCCGGTGCGAGGCCAGAGGTGGGGAAGCCATCGGACGTCGGCGGTGAGGATCT
TCTCCTGACCCAGCATCGCTCATCACAATGAAGAACCAAGACAAAAAGAACGGGGCTGCCAAACAATCCAATCCAAAAAGCAGCCCAGGACAACCGGAAG
CAGGACCCGAGGGAGCCCAGGAGCGGCCCAGCCAGGCGGCTCCTGCAGTAGAAGCAGAAGGTCCCGGCAGCAGCCAGGCTCCTCGGAAGCCGGAGGGGGC
TCAAGCCAGAACGGCTCAGTCTGGGGCCCTTCGTGATGTCTCTGAGGAGCTGAGCCGCCAACTGGAAGACATACTGAGCACATACTGTGTGGACAATAAC
CAGGGGGGCCCCGGCGAGGATGGGGCACAGGGTGAGCCGGCTGAACCCGAAGATGCAGAGAAGTCCCGGACCTATGTGGCAAGGAATGGGGAGCCTGAAC
CAACTCCAGTAGTCAATGGAGAGAAGGAACCCTCCAAGGGGGATCCAAACACAGAAGAGATCCGGCAGAGTGACGAGGTCGGAGACCGAGACCATCGAAG
GCCACAGGAGAAGAAAAAAGCCAAGGGTTTGGGGAAGGAGATCACGTTGCTGATGCAGACATTGAATACTCTGAGTACCCCAGAGGAGAAGCTGGCTGCT
CTGTGCAAGAAGTATGCTGAACTGCTGGAGGAGCACCGGAATTCACAGAAGCAGATGAAGCTCCTACAGAAAAAGCAGAGCCAGCTGGTGCAAGAGAAGG
ACCACCTGCGCGGTGAGCACAGCAAGGCCGTCCTGGCCCGCAGCAAGCTTGAGAGCCTATGCCGTGAGCTGCAGCGGCACAACCGCTCCCTCAAGGAAGA
AGGTGTGCAGCGGGCCCGGGAGGAGGAGGAGAAGCGCAAGGAGGTGACCTCGCACTTCCAGGTGACACTGAATGACATTCAGCTGCAGATGGAACAGCAC
AATGAGCGCAACTCCAAGCTGCGCCAAGAGAACATGGAGCTGGCTGAGAGGCTCAAGAAGCTGATTGAGCAGTATGAGCTGCGCGAGGAGCATATCGACA
AAGTCTTCAAACACAAGGACCTACAACAGCAGCTGGTGGATGCCAAGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGA
GAAGGATTTTCTCCTGAAAGAGGCAGTAGAGTCCCAGAGGATGTGTGAGCTGATGAAGCAGCAAGAGACCCACCTGAAGCAACAGCTTGCCCTATACACA
GAGAAGTTTGAGGAGTTCCAGAACACACTTTCCAAAAGCAGCGAGGTATTCACCACATTCAAGCAGGAGATGGAAAAGATGACTAAGAAGATCAAGAAGC
TGGAGAAAGAAACCACCATGTACCGGTCCCGGTGGGAGAGCAGCAACAAGGCCCTGCTTGAGATGGCTGAGGAGAAAACAGTCCGGGATAAAGAACTGGA
GGGCCTGCAGGTAAAAATCCAACGGCTGGAGAAGCTGTGCCGGGCACTGCAGACAGAGCGCAATGACCTGAACAAGAGGGTACAGGACCTGAGTGCTGGT
GGCCAGGGCTCCCTCACTGACAGTGGCCCTGAGAGGAGGCCAGAGGGGCCTGGGGCTCAAGCACCCAGCTCCCCCAGGGTCACAGAAGCGCCTTGCTACC
CAGGAGCACCGAGCACAGAAGCATCAGGCCAGACTGGGCCTCAAGAGCCCACCTCCGCCAGGGCCTAGAGAGCCTGGTGTTGGGTCATGCTGGGAAGGGA
GCGGCAGCCCAGCCAGGCCTGGCCCATAAAAGGCTCCCATGCTGAGCAGCCCATTGCTGAAGCCAGGATGTTCTGACCTGGCTGGCATCTGGCACTTGCA
ATTTTGGATTTTGTGGGTCAGTTTTACGTACATAGGGCATTTTGCAAGGCCTTGCAAATGCATTTATACCTGTAAGTGTACAGTGGGCTTGCATTGGGGA
TGGGGGTGTGTACAGATGAAGTCAGTGGCTTGTCTGTGAGCTGAAGAGTCTTGAGAGGGGCTGTCATCTGTAGCTGCCATCACAGTGAGTTGGCAGAAGT
GACTTGAGCATTTCTCTGTCTGATTTGAGGCTCAGACCCCTCCCTGCCCTTCAGAGCTCAAGACAAGTAATACACCCAGGTCTTGACTGCATTTGTCTTG
TGAGCAGGGCTTGCTTGGTCAGCTCAGGCCCTCCTAGCTGCTCTGGAGGCTCCTTTGATTCTCTAGACCTGGAAAAGGTGTCCCTAGGCAGAGCCCTGGC
AGGGCGCTCAGAGCTGGGGATTTCCTGCCTGGAACAAGGGACCTGGAGAATGTTTTTGCGTGGGATGATGTGCTGGTCAGGAGCCCCTTGGGCATCGCTT
CCCCTGCCCTTTGGTAGTGCCAGGACCAGGCCAATGATGCTTCTCAGTAGCCTTATCATTCACAGGTGCCTCTCTAGCCTGCACAAATGATTGACAAGAG
ATCACCCAAAGGATTATTTCTGAAGGTGTTTTTTTCTTTATTTCTTTTTCTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTGCACATGACAGTGTTTGT
ATTGAGGACCTTCCAAGGAAGAGGGATGCTGTAGCAGTGGTGCCTGGGTGCCTGGCCTCCAGTGTCCCACCTCCTTCACCACCCCACTTGGCTCCTTTGC
CATCTTGATGCTGAGGTTTCCTGTTTGGTGAGATCAGGTTGTTTGTGGTAAAAGAAAGGAAAGGGCTTCTGATGGCTTTGCCACAAGCTTACCTGTGGGT
TTCAGTCCTGAGAGGCCACCACCAGTTCCCATCAGCACTGTCTCCATGCAGCAGTTGCTGGGTCCCATGTCCAGCTGCCTCTTTGGCTTCATGGGTTTTT
CTGCTTCCTGCCCCCACCCCCACATGTGCAATCCTCAAGATTTGTCCTGATTCTATTTCCTGGCACCTCCCTGCCTGTCCTTGGGGATTCTACTTCTTCC
TGTGTGGGAGCCCATAGCTGTTGTCTAACAGGTAAGAAATGAAATTGAACTATTGACTGGGCCCCAGAAATCCATAAAATGGCTGCAGACAGTTGTTTCT
GTGTCCTGTTCTACCCCCACTCCAGTACATAACTACTATGTACTGTGTAGAGCCATTCTATATGCTGAATGTTCTGCTGTTGCAAACTTGCCAGGGTATT
AGCCAGTGTTTGTGCCAAGCAGTTTTCTGGGACAACAGAATGACTCAGACCAAGATGGATAGGATGGTTAGGGCTTTGCTTCTTGCTGTTTTTCTTTGAA
GCTAGTTCATTGTCCTGCAGGTCCCTTCATCTTCCATACCTAGCCCACTCTTTTAGCCCTTACCTTAAATCTCTCAGATAAGTTGGTTCACAAAGAATGT
TAAGTACTGAATCATGTGTGACTGAGACCAGAGATGGCAAATGAATGGCACACCATTTCTCCTTCTCCTGCCCCAGGGCAGGTACCACTGATCTGCATCA
GAGTTGCCTGCTATTCTCTGGTGTATCCTTCACATCTAGGTGCCCTCAAGCAGCTGTGTGAGTGTTGAGATCTCTGCCATCTCTGGCTGAGATACTGCTG
TCCTGTGAAGTGTTTCCCATGACCTTTTTCTTCCCCTTTGAATCCCTCTGTCTGGAGTAGTCCTTGCCTCTTCCTGCTCCAGTAGGGCCTTTTCCCTACC
CCAGCCCCTGTGCCAGGCTAAGCTGGTACAAGAGCTGCCAACCTCACAGAGTGTTTGCTAGGCGAGAGAGGTGCAGGGAAGAGGCAGAGGTATGCACCTT
CCCCCTTGAAGAGAGGGGAAAGGCCTACAGTGGCCCACATAATTGCCTGACTCACACTTCAGCTACCTCTTAATGCCTGTGGAGGGACTGGAGCTGCTGG
ATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGCCCCAGCTGGGTTTCCCAGGTCAGGAATGTGGGCCCCAGGCAAGGTGCAGCCTTTGCTC
ACAGCTCCATCCATGTCTAGACCTTCAGGCCAGTCTGCAGATGAGGTTCCCTACCTTTTTCTTCTCTTCATTGACCAAATCAACCAATCACTACAGCTGC
TCTGCTTCTGCTTTCCAAAGTAGCCCAGGTCCTGGGCCAGATGCAGGGGAGGTGCCTATCCATGAGTGAAGGCCAGTGTCTTCCTCACCTGGGTGGGTCC
CACACTTGTGACCTCAGTTTTAGGACCAAGATCTGTGTTGGTTTCTTAGATTGCTAGCTTTTCCTCCAGGGGACCACAGCAGGTGAAGCTCAAGAGCGCA
TGGCTCTGCTAATAGTAAATTGTTTTCAGGGCCTTGTCCAGCTGAGAGCTTCATGTCCACCAGATTCTGAGAGGTGTCAGCAGCACTTTTTTTTTTTATT
TGTTGTTTGTTTTCCATGAGGTTATCGGACCATGGGCTGAGCTCAGGCACTTTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTC
CACCCCATCACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGTGGAGCTGCCTGGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTG
CTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGCTGCCTT
CTGTCCCTGTAACTGCTTTCCTTATGGCCCAGCCCGGCCACTCAGACTTGTTTGAAGCTGCACTGGCAGCTTTTTTGTCTCCTTTGGGTATTCACAACAG
CCAGGGACTTGATTTTGATGTATTTTAAACCACATTAAATAAAGAGTCTGTTGCCTT


Protein Sequence     (SEQ ID NO:498):
MKNQDKKNGAAKQSNPKSSPGQPEAGPEGAQERPSQAAPAVEAEGPGSSQAPRKPEGAQARTAQSGALRDVSEELSRQLEDILSTYCVDNNQGGPGEDGA
QGEPAEPEDAEKSRTYVARNGEPEPTPVVNGEKEPSKGDPNTEEIRQSDEVGDRDHRRPQEKKKAKGLGKEITLLMQTLNTLSTPEEKLAALCKKYAELL
EEHRNSQKQMKLLQKKQSQLVQEKDHLRGEHSKAVLARSKLESLCRELQRHNRSLKEEGVQRAREEEEKRKEVTSHFQVTLNDIQLQMEQHNERNSKLRQ
ENMELAERLKKLIEQYELREEHIDKVFKHKDLQQQLVDAKLQQAQEMLKEAEERHQREKDFLLKEAVESQRMCELMKQQETHLKQQLALYTEKFEEFQNT
LSKSSEVFTTFKQEMEKMTKKIKKLEKETTMYRSRWESSNKALLEMAEEKTVRDKELEGLQVKIQRLEKLCRALQTERNDLNKRVQDLSAGGQGSLTDSG
PERRPEGPGAQAPSSPRVTEAPCYPGAPSTEASGQTGPQEPTSARA*



SNP Information


Context              (SEQ ID NO:4687):
TGAACAAGAGGGTACAGGACCTGAGTGCTGGTGGCCAGGGCTCCCTCACTGACAGTGGCCCTGAGAGGAGGCCAGAGGGGCCTGGGGCTCAAGCACCCAG
S
TCCCCCAGGGTCACAGAAGCGCCTTGCTACCCAGGAGCACCGAGCACAGAAGCATCAGGCCAGACTGGGCCTCAAGAGCCCACCTCCGCCAGGGCCTAGA
Celera SNP ID:                hCV25957872
SNP Position Transcript:      1669
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|G,0)  african american(C,36|G,2)  total(C,76|G,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:498, 514,(S,AGC) (R,AGG)



Context              (SEQ ID NO:4688):
TGAAGGTGTTTTTTTCTTTATTTCTTTTTCTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTGCACATGACAGTGTTTGTATTGAGGACCTTCCAAGGAA
R
AGGGATGCTGTAGCAGTGGTGCCTGGGTGCCTGGCCTCCAGTGTCCCACCTCCTTCACCACCCCACTTGGCTCCTTTGCCATCTTGATGCTGAGGTTTCC
Celera SNP ID:                hCV30988539
SNP Position Transcript:      2621
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4689):
TTTTCTGGGACAACAGAATGACTCAGACCAAGATGGATAGGATGGTTAGGGCTTTGCTTCTTGCTGTTTTTCTTTGAAGCTAGTTCATTGTCCTGCAGGT
M
CCTTCATCTTCCATACCTAGCCCACTCTTTTAGCCCTTACCTTAAATCTCTCAGATAAGTTGGTTCACAAAGAATGTTAAGTACTGAATCATGTGTGACT
Celera SNP ID:                hCV8853871
SNP Position Transcript:      3323
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4690):
AGAGGTATGCACCTTCCCCCTTGAAGAGAGGGGAAAGGCCTACAGTGGCCCACATAATTGCCTGACTCACACTTCAGCTACCTCTTAATGCCTGTGGAGG
R
ACTGGAGCTGCTGGATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGCCCCAGCTGGGTTTCCCAGGTCAGGAATGTGGGCCCCAGGCAAGG
Celera SNP ID:                hCV30330690
SNP Position Transcript:      3886
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4691):
TTAATGCCTGTGGAGGGACTGGAGCTGCTGGATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGCCCCAGCTGGGTTTCCCAGGTCAGGAAT
R
TGGGCCCCAGGCAAGGTGCAGCCTTTGCTCACAGCTCCATCCATGTCTAGACCTTCAGGCCAGTCTGCAGATGAGGTTCCCTACCTTTTTCTTCTCTTCA
Celera SNP ID:                hCV30988538
SNP Position Transcript:      3970
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4692):
TCAGGGCCTTGTCCAGCTGAGAGCTTCATGTCCACCAGATTCTGAGAGGTGTCAGCAGCACTTTTTTTTTTTATTTGTTGTTTGTTTTCCATGAGGTTAT
Y
GGACCATGGGCTGAGCTCAGGCACTTTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTCCACCCCATCACGGTGGCCCTGAGGGC
Celera SNP ID:                hCV30240518
SNP Position Transcript:      4426
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4693):
TTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTCCACCCCATCACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGTGGAGCTGCC
W
GGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTGCTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACA
Celera SNP ID:                hCV30988537
SNP Position Transcript:      4552
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4694):
CACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGTGGAGCTGCCTGGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTGCTGCCCCA
K
CCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGCTGCCTTCTGTCCCTG
Celera SNP ID:                hCV26269262
SNP Position Transcript:      4609
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,368|T,-) ; no_pop(G,8|T,1) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Context              (SEQ ID NO:4695):
CAGCTGCTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGC
K
GCCTTCTGTCCCTGTAACTGCTTTCCTTATGGCCCAGCCCGGCCACTCAGACTTGTTTGAAGCTGCACTGGCAGCTTTTTTGTCTCCTTTGGGTATTCAC
Celera SNP ID:                hCV11183090
SNP Position Transcript:      4695
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:498, None



Gene Number:                  97
Celera Gene:                  hCG2036649 - 207000006054796
Celera Transcript:            hCT2340722 - 207000006054751
Public Transcript Accession:  NM_175852
Celera Protein:               hCP1907305 - 207000006054768
Public Protein Accession:     NP_787048
Gene Symbol:                  DKFZp451J0118
Protein Name:                  taxilin
Celera Genomic Axis:          GA_x5YUV32W802(50941403..50975749)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:238):
GGTTGTGCCGGGAAGTGGCTCCAGGGAGAAGAGGCCTCTTCCCTCACCCGCTGTGGGAGCTGCGCCCCGAAAGCCTGCCCCGGCACGTCGGGCTCTCCTG
ACCCGCCAAGACCAGAGAGCCGTTGGCGCCCTCCGCCCGGGCCTGCCGGTCCGTTTATTTTAAGAAGCTTTGTGCGCCTGCTGTGGGGATTTCTGATCCA
GGCTGCGAAGAATTTCGAAGTCTGGAAAATAGCAACTGTGTTTGTTTCTAAAGGATCTTCTCCTGACCCAGCATCGCTCATCACAATGAAGAACCAAGAC
AAAAAGAACGGGGCTGCCAAACAATCCAATCCAAAAAGCAGCCCAGGACAACCGGAAGCAGGACCCGAGGGAGCCCAGGAGCGGCCCAGCCAGGCGGCTC
CTGCAGTAGAAGCAGAAGGTCCCGGCAGCAGCCAGGCTCCTCGGAAGCCGGAGGGGGCTCAAGCCAGAACGGCTCAGTCTGGGGCCCTTCGTGATGTCTC
TGAGGAGCTGAGCCGCCAACTGGAAGACATACTGAGCACATACTGTGTGGACAATAACCAGGGGGGCCCCGGCGAGGATGGGGCACAGGGTGAGCCGGCT
GAACCCGAAGATGCAGAGAAGTCCCGGACCTATGTGGCAAGGAATGGGGAGCCTGAACCAACTCCAGTAGTCAATGGAGAGAAGGAACCCTCCAAGGGGG
ATCCAAACACAGAAGAGATCCGGCAGAGTGACGAGGTCGGAGACCGAGACCATCGAAGGCCACAGGAGAAGAAAAAAGCCAAGGGTTTGGGGAAGGAGAT
CACGTTGCTGATGCAGACATTGAATACTCTGAGTACCCCAGAGGAGAAGCTGGCTGCTCTGTGCAAGAAGTATGCTGAACTGCTGGAGGAGCACCGGAAT
TCACAGAAGCAGATGAAGCTCCTACAGAAAAAGCAGAGCCAGCTGGTGCAAGAGAAGGACCACCTGCGCGGTGAGCACAGCAAGGCCGTCCTGGCCCGCA
GCAAGCTTGAGAGCCTATGCCGTGAGCTGCAGCGGCACAACCGCTCCCTCAAGGAAGAAGGTGTGCAGCGGGCCCGGGAGGAGGAGGAGAAGCGCAAGGA
GGTGACCTCGCACTTCCAGGTGACACTGAATGACATTCAGCTGCAGATGGAACAGCACAATGAGCGCAACTCCAAGCTGCGCCAAGAGAACATGGAGCTG
GCTGAGAGGCTCAAGAAGCTGATTGAGCAGTATGAGCTGCGCGAGGAGCATATCGACAAAGTCTTCAAACACAAGGACCTACAACAGCAGCTGGTGGATG
CCAAGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTCTCCTGAAAGAGGCAGTAGAGTCCCAGAGGAT
GTGTGAGCTGATGAAGCAGCAAGAGACCCACCTGAAGCAACAGCTTGCCCTATACACAGAGAAGTTTGAGGAGTTCCAGAACACACTTTCCAAAAGCAGC
GAGGTATTCACCACATTCAAGCAGGAGATGGAAAAGATGACTAAGAAGATCAAGAAGCTGGAGAAAGAAACCACCATGTACCGGTCCCGGTGGGAGAGCA
GCAACAAGGCCCTGCTTGAGATGGCTGAGGAGAAAACAGTCCGGGATAAAGAACTGGAGGGCCTGCAGGTAAAAATCCAACGGCTGGAGAAGCTGTGCCG
GGCACTGCAGACAGAGCGCAATGACCTGAACAAGAGGGTACAGGACCTGAGTGCTGGTGGCCAGGGCTCCCTCACTGACAGTGGCCCTGAGAGGAGGCCA
GAGGGGCCTGGGGCTCAAGCACCCAGCTCCCCCAGGGTCACAGAAGCGCCTTGCTACCCAGGAGCACCGAGCACAGAAGCATCAGGCCAGACTGGGCCTC
AAGAGCCCACCTCCGCCAGGGCCTAGAGAGCCTGGTGTTGGGTCATGCTGGGAAGGGAGCGGCAGCCCAGCCAGGCCTGGCCCATAAAAGGCTCCCATGC
TGAGCAGCCCATTGCTGAAGCCAGGATGTTCTGACCTGGCTGGCATCTGGCACTTGCAATTTTGGATTTTGTGGGTCAGTTTTACGTACATAGGGCATTT
TGCAAGGCCTTGCAAATGCATTTATACCTGTAAGTGTACAGTGGGCTTGCATTGGGGATGGGGGTGTGTACAGATGAAGTCAGTGGCTTGTCTGTGAGCT
GAAGAGTCTTGAGAGGGGCTGTCATCTGTAGCTGCCATCACAGTGAGTTGGCAGAAGTGACTTGAGCATTTCTCTGTCTGATTTGAGGCTCAGACCCCTC
CCTGCCCTTCAGAGCTCAAGACAAGTAATACACCCAGGTCTTGACTGCATTTGTCTTGTGAGCAGGGCTTGCTTGGTCAGCTCAGGCCCTCCTAGCTGCT
CTGGAGGCTCCTTTGATTCTCTAGACCTGGAAAAGGTGTCCCTAGGCAGAGCCCTGGCAGGGCGCTCAGAGCTGGGGATTTCCTGCCTGGAACAAGGGAC
CTGGAGAATGTTTTTGCGTGGGATGATGTGCTGGTCAGGAGCCCCTTGGGCATCGCTTCCCCTGCCCTTTGGTAGTGCCAGGACCAGGCCAATGATGCTT
CTCAGTAGCCTTATCATTCACAGGTGCCTCTCTAGCCTGCACAAATGATTGACAAGAGATCACCCAAAGGATTATTTCTGAAGGTGTTTTTTTCTTTATT
TCTTTTTCTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTGCACATGACAGTGTTTGTATTGAGGACCTTCCAAGGAAGAGGGATGCTGTAGCAGTGGTG
CCTGGGTGCCTGGCCTCCAGTGTCCCACCTCCTTCACCACCCCACTTGGCTCCTTTGCCATCTTGATGCTGAGGTTTCCTGTTTGGTGAGATCAGGTTGT
TTGTGGTAAAAGAAAGGAAAGGGCTTCTGATGGCTTTGCCACAAGCTTACCTGTGGGTTTCAGTCCTGAGAGGCCACCACCAGTTCCCATCAGCACTGTC
TCCATGCAGCAGTTGCTGGGTCCCATGTCCAGCTGCCTCTTTGGCTTCATGGGTTTTTCTGCTTCCTGCCCCCACCCCCACATGTGCAATCCTCAAGATT
TGTCCTGATTCTATTTCCTGGCACCTCCCTGCCTGTCCTTGGGGATTCTACTTCTTCCTGTGTGGGAGCCCATAGCTGTTGTCTAACAGGTAAGAAATGA
AATTGAACTATTGACTGGGCCCCAGAAATCCATAAAATGGCTGCAGACAGTTGTTTCTGTGTCCTGTTCTACCCCCACTCCAGTACATAACTACTATGTA
CTGTGTAGAGCCATTCTATATGCTGAATGTTCTGCTGTTGCAAACTTGCCAGGGTATTAGCCAGTGTTTGTGCCAAGCAGTTTTCTGGGACAACAGAATG
ACTCAGACCAAGATGGATAGGATGGTTAGGGCTTTGCTTCTTGCTGTTTTTCTTTGAAGCTAGTTCATTGTCCTGCAGGTCCCTTCATCTTCCATACCTA
GCCCACTCTTTTAGCCCTTACCTTAAATCTCTCAGATAAGTTGGTTCACAAAGAATGTTAAGTACTGAATCATGTGTGACTGAGACCAGAGATGGCAAAT
GAATGGCACACCATTTCTCCTTCTCCTGCCCCAGGGCAGGTACCACTGATCTGCATCAGAGTTGCCTGCTATTCTCTGGTGTATCCTTCACATCTAGGTG
CCCTCAAGCAGCTGTGTGAGTGTTGAGATCTCTGCCATCTCTGGCTGAGATACTGCTGTCCTGTGAAGTGTTTCCCATGACCTTTTTCTTCCCCTTTGAA
TCCCTCTGTCTGGAGTAGTCCTTGCCTCTTCCTGCTCCAGTAGGGCCTTTTCCCTACCCCAGCCCCTGTGCCAGGCTAAGCTGGTACAAGAGCTGCCAAC
CTCACAGAGTGTTTGCTAGGCGAGAGAGGTGCAGGGAAGAGGCAGAGGTATGCACCTTCCCCCTTGAAGAGAGGGGAAAGGCCTACAGTGGCCCACATAA
TTGCCTGACTCACACTTCAGCTACCTCTTAATGCCTGTGGAGGGACTGGAGCTGCTGGATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGC
CCCAGCTGGGTTTCCCAGGTCAGGAATGTGGGCCCCAGGCAAGGTGCAGCCTTTGCTCACAGCTCCATCCATGTCTAGACCTTCAGGCCAGTCTGCAGAT
GAGGTTCCCTACCTTTTTCTTCTCTTCATTGACCAAATCAACCAATCACTACAGCTGCTCTGCTTCTGCTTTCCAAAGTAGCCCAGGTCCTGGGCCAGAT
GCAGGGGAGGTGCCTATCCATGAGTGAAGGCCAGTGTCTTCCTCACCTGGGTGGGTCCCACACTTGTGACCTCAGTTTTAGGACCAAGATCTGTGTTGGT
TTCTTAGATTGCTAGCTTTTCCTCCAGGGGACCACAGCAGGTGAAGCTCAAGAGCGCATGGCTCTGCTAATAGTAAATTGTTTTCAGGGCCTTGTCCAGC
TGAGAGCTTCATGTCCACCAGATTCTGAGAGGTGTCAGCAGCACTTTTTTTTTTTATTTGTTGTTTGTTTTCCATGAGGTTATCGGACCATGGGCTGAGC
TCAGGCACTTTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTCCACCCCATCACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGT
GGAGCTGCCTGGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTGCTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCAC
CCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGCTGCCTTCTGTCCCTGTAACTGCTTTCCTTATGGCCCAGCCCGGCCACT
CAGACTTGTTTGAAGCTGCACTGGCAGCTTTTTTGTCTCCTTTGGGTATTCACAACAGCCAGGGACTTGATTTTGATGTATTTTAAACCACATTAAATAA
AGAGTCTGTTGCCTT


Protein Sequence     (SEQ ID NO:499):
MKNQDKKNGAAKQSNPKSSPGQPEAGPEGAQERPSQAAPAVEAEGPGSSQAPRKPEGAQARTAQSGALRDVSEELSRQLEDILSTYCVDNNQGGPGEDGA
QGEPAEPEDAEKSRTYVARNGEPEPTPVVNGEKEPSKGDPNTEEIRQSDEVGDRDHRRPQEKKKAKGLGKEITLLMQTLNTLSTPEEKLAALCKKYAELL
EEHRNSQKQMKLLQKKQSQLVQEKDHLRGEHSKAVLARSKLESLCRELQRHNRSLKEEGVQRAREEEEKRKEVTSHFQVTLNDIQLQMEQHNERNSKLRQ
ENMELAERLKKLIEQYELREEHIDKVFKHKDLQQQLVDAKLQQAQEMLKEAEERHQREKDFLLKEAVESQRMCELMKQQETHLKQQLALYTEKFEEFQNT
LSKSSEVFTTFKQEMEKMTKKIKKLEKETTMYRSRWESSNKALLEMAEEKTVRDKELEGLQVKIQRLEKLCRALQTERNDLNKRVQDLSAGGQGSLTDSG
PERRPEGPGAQAPSSPRVTEAPCYPGAPSTEASGQTGPQEPTSARA*



SNP Information


Context              (SEQ ID NO:4696):
CCGCCAAGACCAGAGAGCCGTTGGCGCCCTCCGCCCGGGCCTGCCGGTCCGTTTATTTTAAGAAGCTTTGTGCGCCTGCTGTGGGGATTTCTGATCCAGG
Y
TGCGAAGAATTTCGAAGTCTGGAAAATAGCAACTGTGTTTGTTTCTAAAGGATCTTCTCCTGACCCAGCATCGCTCATCACAATGAAGAACCAAGACAAA
Celera SNP ID:                hCV25956380
SNP Position Transcript:      203
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,26|T,0)  african american(C,23|T,1)  total(C,49|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4697):
TGAACAAGAGGGTACAGGACCTGAGTGCTGGTGGCCAGGGCTCCCTCACTGACAGTGGCCCTGAGAGGAGGCCAGAGGGGCCTGGGGCTCAAGCACCCAG
S
TCCCCCAGGGTCACAGAAGCGCCTTGCTACCCAGGAGCACCGAGCACAGAAGCATCAGGCCAGACTGGGCCTCAAGAGCCCACCTCCGCCAGGGCCTAGA
Celera SNP ID:                hCV25957872
SNP Position Transcript:      1827
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|G,0)  african american(C,36|G,2)  total(C,76|G,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:499, 514,(S,AGC) (R,AGG)



Context              (SEQ ID NO:4698):
TGAAGGTGTTTTTTTCTTTATTTCTTTTTCTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTGCACATGACAGTGTTTGTATTGAGGACCTTCCAAGGAA
R
AGGGATGCTGTAGCAGTGGTGCCTGGGTGCCTGGCCTCCAGTGTCCCACCTCCTTCACCACCCCACTTGGCTCCTTTGCCATCTTGATGCTGAGGTTTCC
Celera SNP ID:                hCV30988539
SNP Position Transcript:      2779
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4699):
TTTTCTGGGACAACAGAATGACTCAGACCAAGATGGATAGGATGGTTAGGGCTTTGCTTCTTGCTGTTTTTCTTTGAAGCTAGTTCATTGTCCTGCAGGT
M
CCTTCATCTTCCATACCTAGCCCACTCTTTTAGCCCTTACCTTAAATCTCTCAGATAAGTTGGTTCACAAAGAATGTTAAGTACTGAATCATGTGTGACT
Celera SNP ID:                hCV8853871
SNP Position Transcript:      3481
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4700):
AGAGGTATGCACCTTCCCCCTTGAAGAGAGGGGAAAGGCCTACAGTGGCCCACATAATTGCCTGACTCACACTTCAGCTACCTCTTAATGCCTGTGGAGG
R
ACTGGAGCTGCTGGATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGCCCCAGCTGGGTTTCCCAGGTCAGGAATGTGGGCCCCAGGCAAGG
Celera SNP ID:                hCV30330690
SNP Position Transcript:      4044
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4701):
TTAATGCCTGTGGAGGGACTGGAGCTGCTGGATCCCAGTGTGGTGGTGTAGGAGGCCACAGTGAGCAGGTGGCCCCAGCTGGGTTTCCCAGGTCAGGAAT
R
TGGGCCCCAGGCAAGGTGCAGCCTTTGCTCACAGCTCCATCCATGTCTAGACCTTCAGGCCAGTCTGCAGATGAGGTTCCCTACCTTTTTCTTCTCTTCA
Celera SNP ID:                hCV30988538
SNP Position Transcript:      4128
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4702):
TCAGGGCCTTGTCCAGCTGAGAGCTTCATGTCCACCAGATTCTGAGAGGTGTCAGCAGCACTTTTTTTTTTTATTTGTTGTTTGTTTTCCATGAGGTTAT
Y
GGACCATGGGCTGAGCTCAGGCACTTTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTCCACCCCATCACGGTGGCCCTGAGGGC
Celera SNP ID:                hCV30240518
SNP Position Transcript:      4584
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4703):
TTCTGTAGGAGACTGTTATTTCTGTAAAGATGGTTATTTAACCCTCCTCCACCCCATCACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGTGGAGCTGCC
W
GGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTGCTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACA
Celera SNP ID:                hCV30988537
SNP Position Transcript:      4710
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4704):
CACGGTGGCCCTGAGGGCTGACCCGGAGGCCAGTGGAGCTGCCTGGTGTCCACGGGGGAGGGCCAAGGCCTGCTGAGCTGATTCTCCAGCTGCTGCCCCA
K
CCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGCTGCCTTCTGTCCCTG
Celera SNP ID:                hCV26269262
SNP Position Transcript:      4767
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,368|T,-) ; no_pop(G,8|T,1) ; no_pop(G,-|T,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Context              (SEQ ID NO:4705):
CAGCTGCTGCCCCAGCCTTTCCGCCTTGCACAGCACAGAGGTGGTCACCCCAGGGACAGCCAGGCACCTGCTCCTCTTGCCCTTCCTGGGGGAAGGGAGC
K
GCCTTCTGTCCCTGTAACTGCTTTCCTTATGGCCCAGCCCGGCCACTCAGACTTGTTTGAAGCTGCACTGGCAGCTTTTTTGTCTCCTTTGGGTATTCAC
Celera SNP ID:                hCV11183090
SNP Position Transcript:      4853
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:499, None



Gene Number:                  97
Celera Gene:                  hCG2036649 - 207000006054796
Celera Transcript:            hCT2340723 - 207000006054763
Public Transcript Accession:
Celera Protein:               hCP1907306 - 207000006054774
Public Protein Accession:
Gene Symbol:                  DKFZp451J0118
Protein Name:                  taxilin
Celera Genomic Axis:          GA_x5YUV32W802(50941403..50975749)
Chromosome:                   1
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:239):
GAGGTGGGGAAGCCATCGGACGTCGGCGGTGAGGATCTTCTCCTGACCCAGCATCGCTCATCACAATGAAGAACCAAGACAAAAAGAACGGGGCTGCCAA
ACAATCCAATCCAAAAAGCAGCCCAGGACAACCGGAAGCAGGACCCGAGGGAGCCCAGGAGCGGCCCAGCCAGGCGGCTCCTGCAGTAGAAGCAGAAGGT
CCCGGCAGCAGCCAGGCTCCTCGGAAGCCGGAGGGGGCTCAAGCCAGAACGGCTCAGTCTGGGGCCCTTCGTGATGTCTCTGAGGAGCTGAGCCGCCAAC
TGGAAGACATACTGAGCACATACTGTGTGGACAATAACCAGGGGGGCCCCGGCGAGGATGGGGCACAGGGTGAGCCGGCTGAACCCGAAGATCTGCCCTC
TTAGGTTCATAGGCCAAAGTGATGATCGTGTGTGCAGGACCTAGAGGGCGCTCCCCTGACCCACCCCTTTCCTTGCCATACTTCATCCTCTGGGAACAAA
GCTGCTTGTTTGGTTTGAGGGGAGTTGGTTTGGTTCTTATCCCTCAGCGCTGAGACATAGAGGCTTCCTGGGCCACTACAGTGAGACACGAACTTCAAGA
ATCTGAATACCCCCGTTTTCTCTCCCCGCCAAGGCAAAAAAGGACTTAGTACTACCTGTGGAGAAGGAGGTGCAGGACTACCAGGCCCTGCTGCTTTGCA
TTTACAGCCCTCCCCAGACAGACACAGGCACCCTCATCATACCCAAACTGGACTTACCTGCTAGGCACCTTCCCTTCCCCATCCAAAAAAATGGAGTTAT
TTTCCCTTATTTCAGCAAGTCCAGTTGATTTTACCTTTGAAGTAGCACCTGAGTCCTTCACCTTCTCTCCATCCCTTCTCTCTCACCTGACACAGGTCTG
CAGCGCTCCTCTAGTAGGCAGGACAGCCATTCCTTGGGGATGCACATGTCTAGTCTTTGCCTAGATATGGCAAGTCTTTGCCAACTGAGCTAGGCTGTTA
TGTTCTTAGAGGCATTGTTTTTGCCCATTCTTCCCATTTACAAGAGAATCAGGGACACAGAAGTGAGGGCTTCCAGCCCCATAGGTGATCAATCCTGGGG
TCAGAGATTTGAGTGTGTTTATTGCTTGCCTTCTTGGGAGCAGATTCCATCCATAAACCATGTGCTTACCAAGGTCTGACTCACTGGGAGAGAAACGACG
TGAGGTTGGAAAGCTGACCTTCCAGAGACTTGGGGCCCATGTTGTGTGGTACACATGGGAGTCCATCATATCAGATTGAGATGGGGGGCTGGGCAAAGTG
CCCTGGTCTGTGGCTGTGGGGCTACCCTGAGAAAGGGAGCGCCTGACAAGCCGACTGCTCCCACCATCTTTGTTGCAGCATATCGACAAAGTCTTCAAAC
ACAAGGACCTACAACAGCAGCTGGTGGATGCCAAGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTGT
GAGGCTCAGGCCCCAGGGTTGGGGTGGGGGTGTGGGAGGAGACAGGCTGGGCTCTGGCTCAGCTCATAGCCGGGTTATATGGGAGAAGTCTGGCCAGACC
AGGCACAGATTCCTTGAGTACCAGTCTGAGAGCAGGAAGCCTCAGTGGGTCTGGTGCTTGTGGCTAAAAACCAAACATAGCCCCTGGGGGCTTCTGACAG
GATCTGGGGTTCTGTCTTGGAAATAGCTCCTGAAAGAGGCAGTAGAGTCCCAGAGGATGTGTGAGCTGATGAAGCAGCAAGAGACCCACCTGAAGCAACA
GCTTGCCCTATACACAGAGAAGTTTGAGGAGTTCCAGAACACACTTTCCAAAAGCAGCGAGGTATTCACCACATTCAAGCAGGAGATGGAAAAGGTAACT
GTGGTCCAGGCCAGGCATGGCTGCTGGGGCATAAGCTGCTTCATTCAAAATTGTTGGGCCTGCCTTCAGGAAGCTCCCATCTGGGGTGTCTCAAGGGCAG
GGCTGTTAGGAAGGTTCACAGCCTTTCCCCTCTTGAGGCAGTATCAGTGGTATGTATACACTCCAGGTTGTCCCAGGGAATGGGGCAGTCTTTTCTGTTT
GTTTGGTTTTTTTGGGGGGTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTGAGATGGAGACTCACCTATTG


Protein Sequence     (SEQ ID NO:500):
MCELMKQQETHLKQQLALYTEKFEEFQNTLSKSSEVFTTFKQEMEKVTVVQARHGCWGISCFIQNCWACLQEAPIWGVSRAGLLGRFTAFPLLRQYQWYV
YTPGCPREWGSLFCLFGFFGGFVVVVVVVVVV*



SNP Information


Context              (SEQ ID NO:4706):
CCAAGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTGTGAGGCTCAGGCCCCAGGGTTGGGGTGGGGG
K
GTGGGAGGAGACAGGCTGGGCTCTGGCTCAGCTCATAGCCGGGTTATATGGGAGAAGTCTGGCCAGACCAGGCACAGATTCCTTGAGTACCAGTCTGAGA
Celera SNP ID:                hCV25965991
SNP Position Transcript:      1531
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|T,24)  african american(G,0|T,30)  total(G,2|T,54)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Context              (SEQ ID NO:4707):
GGGAGTCCATCATATCAGATTGAGATGGGGGGCTGGGCAAAGTGCCCTGGTCTGTGGCTGTGGGGCTACCCTGAGAAAGGGAGCGCCTGACAAGCCGACT
R
CTCCCACCATCTTTGTTGCAGCATATCGACAAAGTCTTCAAACACAAGGACCTACAACAGCAGCTGGTGGATGCCAAGCTCCAGCAGGCCCAGGAGATGC
Celera SNP ID:                hCV25971901
SNP Position Transcript:      1357
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,28)  african american(A,2|G,34)  total(A,2|G,62)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Context              (SEQ ID NO:4708):
ACACAGAGAAGTTTGAGGAGTTCCAGAACACACTTTCCAAAAGCAGCGAGGTATTCACCACATTCAAGCAGGAGATGGAAAAGGTAACTGTGGTCCAGGC
Y
AGGCATGGCTGCTGGGGCATAAGCTGCTTCATTCAAAATTGTTGGGCCTGCCTTCAGGAAGCTCCCATCTGGGGTGTCTCAAGGGCAGGGCTGTTAGGAA
Celera SNP ID:                hCV25958656
SNP Position Transcript:      1912
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,20|T,0)  african american(C,30|T,2)  total(C,50|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:500, 52,(A,GCC) (A,GCT)



Context              (SEQ ID NO:4709):
CAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTGTGAGGCTCAGGCCCCAGGGTTGGGGTGGGGGTGTGGGAGGAG
R
CAGGCTGGGCTCTGGCTCAGCTCATAGCCGGGTTATATGGGAGAAGTCTGGCCAGACCAGGCACAGATTCCTTGAGTACCAGTCTGAGAGCAGGAAGCCT
Celera SNP ID:                hCV25966013
SNP Position Transcript:      1542
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,24|G,0)  african american(A,33|G,1)  total(A,57|G,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Context              (SEQ ID NO:4710):
TCCTTGGGGATGCACATGTCTAGTCTTTGCCTAGATATGGCAAGTCTTTGCCAACTGAGCTAGGCTGTTATGTTCTTAGAGGCATTGTTTTTGCCCATTC
Y
TCCCATTTACAAGAGAATCAGGGACACAGAAGTGAGGGCTTCCAGCCCCATAGGTGATCAATCCTGGGGTCAGAGATTTGAGTGTGTTTATTGCTTGCCT
Celera SNP ID:                hCV15875648
SNP Position Transcript:      1031
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,1216|C,286) ; no_pop(T,-|C,-) ; no_pop(T,322|C,30)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Context              (SEQ ID NO:4711):
AAGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTGTGAGGCTCAGGCCCCAGGGTTGGGGTGGGGGTG
T
GGGAGGAGACAGGCTGGGCTCTGGCTCAGCTCATAGCCGGGTTATATGGGAGAAGTCTGGCCAGACCAGGCACAGATTCCTTGAGTACCAGTCTGAGAGC
Celera SNP ID:                hCV25965995
SNP Position Transcript:      1533
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|T,23)  african american(G,0|T,32)  total(G,1|T,55)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,18|-,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Context              (SEQ ID NO:4712):
AGCTCCAGCAGGCCCAGGAGATGCTAAAGGAGGCAGAAGAGCGGCACCAGCGGGAGAAGGATTTTGTGAGGCTCAGGCCCCAGGGTTGGGGTGGGGGTGT
G
GGAGGAGACAGGCTGGGCTCTGGCTCAGCTCATAGCCGGGTTATATGGGAGAAGTCTGGCCAGACCAGGCACAGATTCCTTGAGTACCAGTCTGAGAGCA
Celera SNP ID:                hCV26269263
SNP Position Transcript:      1534
SNP Source:                   Celera
Population(Allele,Count):     no_pop(G,9|-,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:500, None



Gene Number:                  98
Celera Gene:                  hCG2039431 - 208000027149733
Celera Transcript:            hCT2258512 - 208000027149752
Public Transcript Accession:  NM_000120
Celera Protein:               hCP1806343 - 208000027149691
Public Protein Accession:     NP_000111
Gene Symbol:                  EPHX1
Protein Name:                  epoxide hydrolase 1, microsomal (xenobiotic)
Celera Genomic Axis:          GA_x5YUV32VWMC(1764047..1812133)
Chromosome:                   1
OMIM NUMBER:                  132810
OMIM Information:             ?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1);/Hyperch
olanemia, familial, 607748 (3)



Transcript Sequence  (SEQ ID NO:240):
AGCCGGAGAGATCGCGCGCCTGCCGCCGCCGGAGCCTGCGAGCCGAGACCGTAAGCGCCCGGGGCCGGCCGGGCCCGCACTCCCCGGACGCAGACGCGGT
TCGGGCTCCGCGCGGGCTCGGCCGCCGGGGTGGGCGGCGGGCCGGGGCGCCGAGGGGTCGGGGCTGCGGTCGGCCCGCAGGGGTGCAGAGGGACTTGTAG
TTGGTCCGCCCCCAGCTCCTGCCCCGGCCAGGAGACTGCGCGTGCCGCCTACTGGGGGAAGGAGCCTGCAGGCGACCGCGGACTTCTCGCAGGGAATTCC
GCGTCCCAGACTGTGGGCGGACGCCGCAGGGAGGGAGGCTCGCGACCCCGAGAGCGCACCGCGTCCCCTGGCCTGGGCGAGCTCTGCTTCCAGGGCCGTG
GCTCGCTCGGCGGTGAAATGCACTTAATTTGTCACCCAAGTCGGAACACTGATTTTCATGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTTGTGAGC
CATGTGGCTAGAAATCCTCCTCACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGG
TGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGA
TCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGA
ATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCC
CAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACC
CCAAGAACCATGGCCTGAGCGATGAGCACGTTTTTGAAGTCATCTGCCCTTCCATCCCTGGCTATGGCTTCTCAGAGGCATCCTCCAAGAAGGGGTTCAA
CTCGGTGGCCACCGCCAGGATCTTTTACAAGCTGATGCTGCGGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACT
AATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGC
GTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACAT
GCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCTATATTCTAGAGAAGTTTTCCACCTGGACC
AATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCA
TCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGC
CTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCG
GCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCC
CCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCC
CCTCACCCCTCCAAGCTCACTCCCCAACCCCCAACTCCGTGTGGTAAGCAACATGGCTTTGATGATAAACGACTTTACTCTAAAAGCGGCTGGAACTCAG
TGACATGAGCGTGCGCTGACCCCACATGGGGCCCCCTGTGCAAGCAGAGCTGGCCGGCCCCTCCTTGCTGGCAGAGGCACGGGAGGCCTGCTGGGGATGA
GGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACCACTG
CGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTACAGAGGT
GCCAAGGCCCCAGGCCAGTTGTGCTAGGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCCTACTGCACAGGCTTGTGCCTTGGTGCCCCCTGGAG
GCAGCAGGGAGGAGGCTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGATGGGCTGCCCCTCCTTCCTGC
CAGAGCCACAGCTCAAGGGCAGTGGGATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCCTTTGGCTCCGAGGAGGCCCTG
AGCACTGCCCACCCCCACACC


Protein Sequence     (SEQ ID NO:501):
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNE
FDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFN
SVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*



SNP Information


Context              (SEQ ID NO:4713):
CTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATC
Y
GCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCA
Celera SNP ID:                hCV11638788
SNP Position Transcript:      646
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 49,(R,CGC) (C,TGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,594)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 49,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4714):
ACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTT
R
AGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGA
Celera SNP ID:                hCV25614902
SNP Position Transcript:      1263
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,36|G,2)  total(A,76|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 254,(L,TTA) (L,TTG)



Context              (SEQ ID NO:4715):
CTGCCGCCGCCGGAGCCTGCGAGCCGAGACCGTAAGCGCCCGGGGCCGGCCGGGCCCGCACTCCCCGGACGCAGACGCGGTTCGGGCTCCGCGCGGGCTC
R
GCCGCCGGGGTGGGCGGCGGGCCGGGGCGCCGAGGGGTCGGGGCTGCGGTCGGCCCGCAGGGGTGCAGAGGGACTTGTAGTTGGTCCGCCCCCAGCTCCT
Celera SNP ID:                hCV31711470
SNP Position Transcript:      120
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4716):
CAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCC
R
TACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTG
Celera SNP ID:                hCV11638783
SNP Position Transcript:      917
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2488|G,504) ; no_pop(A,632|G,1904) ; no_pop
(A,2176|G,544)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 139,(H,CAT) (R,CGT)



Context              (SEQ ID NO:4717):
TAAGCGCCCGGGGCCGGCCGGGCCCGCACTCCCCGGACGCAGACGCGGTTCGGGCTCCGCGCGGGCTCGGCCGCCGGGGTGGGCGGCGGGCCGGGGCGCC
R
AGGGGTCGGGGCTGCGGTCGGCCCGCAGGGGTGCAGAGGGACTTGTAGTTGGTCCGCCCCCAGCTCCTGCCCCGGCCAGGAGACTGCGCGTGCCGCCTAC
Celera SNP ID:                hCV31711472
SNP Position Transcript:      152
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4718):
ATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATT
Y
GACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGC
Celera SNP ID:                hCV11638786
SNP Position Transcript:      804
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,290|C,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 101,(F,TTT) (F,TTC)



Context              (SEQ ID NO:4719):
ACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAA
R
ATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCT
Celera SNP ID:                hCV15968483
SNP Position Transcript:      858
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 119,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4720):
GAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCT
M
CAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCAC
Celera SNP ID:                hCV1115304
SNP Position Transcript:      1622
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,12|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 374,(Y,TAC) (S,TCC)



Context              (SEQ ID NO:4721):
CTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTA
Y
TGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGA
Celera SNP ID:                hCV11638782
SNP Position Transcript:      1717
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,2|C,297)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 406,(L,TTG) (L,CTG)



Context              (SEQ ID NO:4722):
TCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATT
Y
TACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCT
Celera SNP ID:                hCV7540417
SNP Position Transcript:      1371
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 290,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4723):
GGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGA
Y
AAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTG
Celera SNP ID:                hCV11638787
SNP Position Transcript:      705
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,9|C,291) ; no_pop(T,115|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 68,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4724):
CTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGA
Y
ACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGAT
Celera SNP ID:                hCV14938
SNP Position Transcript:      838
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1674|C,4119) ; no_pop(T,464|C,252) ; no_pop
(T,81|C,39)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 113,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4725):
CTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCC
Y
GTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTC
Celera SNP ID:                hCV15968481
SNP Position Transcript:      1353
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,0)  total(C,73|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 284,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2522|T,458) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 284,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4726):
ATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAA
Y
GTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGA
Celera SNP ID:                hCV11638763
SNP Position Transcript:      1572
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,5336|T,976) ; no_pop(C,-|T,-) ; no_pop(C,1872|T,252) ; no_pop
(C,208|T,28)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 357,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4727):
CACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACT
R
GCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTG
Celera SNP ID:                hCV27540172
SNP Position Transcript:      791
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:501, 97,(W,TGG) (*,TAG)



Context              (SEQ ID NO:4728):
ATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGC
R
GCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGC
Celera SNP ID:                hCV11638781
SNP Position Transcript:      1862
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,297)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 454,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:4729):
GTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCA
S
GGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTG
Celera SNP ID:                hCV27474189
SNP Position Transcript:      629
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 43,(R,AGG) (T,ACG)



Context              (SEQ ID NO:4730):
GGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCA
Y
TTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGC
Celera SNP ID:                hCV2726011
SNP Position Transcript:      1242
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,35|T,1)  total(C,74|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 247,(H,CAC) (H,CAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,18|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 247,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4731):
TGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCA
W
GAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCA
Celera SNP ID:                hCV26884762
SNP Position Transcript:      1662
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,252|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 387,(H,CAT) (Q,CAA)



Context              (SEQ ID NO:4732):
CACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCC
R
CAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCC
Celera SNP ID:                hDV68616358
SNP Position Transcript:      622
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:501, 41,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4733):
TGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAA
R
TACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGT
Celera SNP ID:                hCV30634036
SNP Position Transcript:      1749
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 416,(K,AAA) (K,AAG)



Context              (SEQ ID NO:4734):
ACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTC
S
GTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGG
Celera SNP ID:                hCV30634037
SNP Position Transcript:      1851
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:501, 450,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4735):
TTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCC
M
CAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTC
Celera SNP ID:                hCV30634038
SNP Position Transcript:      1904
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4736):
GGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCC
R
CCACTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTAC
Celera SNP ID:                hCV32369314
SNP Position Transcript:      2294
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4737):
ATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACC
R
CTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTACAGA
Celera SNP ID:                hCV2726014
SNP Position Transcript:      2297
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,1135|G,627) ; no_pop(A,10|G,1) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4738):
GCCAGCGGACAGGCACAGGCAGGGCCTACAGAGGTGCCAAGGCCCCAGGCCAGTTGTGCTAGGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCC
W
ACTGCACAGGCTTGTGCCTTGGTGCCCCCTGGAGGCAGCAGGGAGGAGGCTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGA
Celera SNP ID:                hCV27471395
SNP Position Transcript:      2466
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1226|A,244) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:501, None



Context              (SEQ ID NO:4739):
CTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGATGGGCTGCCCCTCCTTCCTGCCAGAGCCACAGCTCA
M
GGGCAGTGGGATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCCTTTGGCTCCGAGGAGGCCCTGAGCACTGCCCACCCCC
Celera SNP ID:                hCV7540410
SNP Position Transcript:      2616
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:501, None



Gene Number:                  98
Celera Gene:                  hCG2039431 - 208000027149733
Celera Transcript:            hCT2258514 - 208000027149726
Public Transcript Accession:  NM_000120
Celera Protein:               hCP1806345 - 208000027149688
Public Protein Accession:     NP_000111
Gene Symbol:                  EPHX1
Protein Name:                  epoxide hydrolase 1, microsomal (xenobiotic)
Celera Genomic Axis:          GA_x5YUV32VWMC(1764047..1812133)
Chromosome:                   1
OMIM NUMBER:                  132810
OMIM Information:             ?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1);/Hyperch
olanemia, familial, 607748 (3)



Transcript Sequence  (SEQ ID NO:241):
GCCTGCGAGCCGAGACCGAGCCATGTGGCTAGAAATCCTCCTCACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACT
TTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGA
TCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGT
CATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCAC
TTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGA
TCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTGAGCGATGAGCACGTTTTTGAAGTCATCTGCCCTTCCATCCCTGGCTATGGCTTCTCAGAGGC
ATCCTCCAAGAAGGGGTTCAACTCGGTGGCCACCGCCAGGATCTTTTACAAGCTGATGCTGCGGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGAC
TGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCC
TGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATTCTACAGCCT
GATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCTATATTCTA
GAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGC
TCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTA
TGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATG
GTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTC
TCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCAT
GCTGGGAGCCCACGCTCACCCCCTCACCCCTCCAAGCTCACTCCCCAACCCCCAACTCCGTGTGGTAAGCAACATGGCTTTGATGATAAACGACTTTACT
CTAAAAGCGGCTGGAACTCAGTGACATGAGCGTGCGCTGACCCCACATGGGGCCCCCTGTGCAAGCAGAGCTGGCCGGCCCCTCCTTGCTGGCAGAGGCA
CGGGAGGCCTGCTGGGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAG
AGGCAGCACTGGCCACCACTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGC
ACAGGCAGGGCCTACAGAGGTGCCAAGGCCCCAGGCCAGTTGTGCTAGGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCCTACTGCACAGGCTT
GTGCCTTGGTGCCCCCTGGAGGCAGCAGGGAGGAGGCTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGA
TGGGCTGCCCCTCCTTCCTGCCAGAGCCACAGCTCAAGGGCAGTGGGATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCC
TTTGGCTCCGAGGAGGCCCTGAGCACTGCCCACCCCCACACC


Protein Sequence     (SEQ ID NO:502):
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNE
FDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFN
SVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*



SNP Information


Context              (SEQ ID NO:4740):
CTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATC
Y
GCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCA
Celera SNP ID:                hCV11638788
SNP Position Transcript:      167
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 49,(R,CGC) (C,TGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,594)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 49,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4741):
ACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTT
R
AGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGA
Celera SNP ID:                hCV25614902
SNP Position Transcript:      784
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,36|G,2)  total(A,76|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 254,(L,TTA) (L,TTG)



Context              (SEQ ID NO:4742):
CAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCC
R
TACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTG
Celera SNP ID:                hCV11638783
SNP Position Transcript:      438
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2488|G,504) ; no_pop(A,632|G,1904) ; no_pop
(A,2176|G,544)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 139,(H,CAT) (R,CGT)



Context              (SEQ ID NO:4743):
ATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATT
Y
GACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGC
Celera SNP ID:                hCV11638786
SNP Position Transcript:      325
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,290|C,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 101,(F,TTT) (F,TTC)



Context              (SEQ ID NO:4744):
ACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAA
R
ATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCT
Celera SNP ID:                hCV15968483
SNP Position Transcript:      379
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 119,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4745):
GAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCT
M
CAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCAC
Celera SNP ID:                hCV1115304
SNP Position Transcript:      1143
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,12|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 374,(Y,TAC) (S,TCC)



Context              (SEQ ID NO:4746):
CTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTA
Y
TGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGA
Celera SNP ID:                hCV11638782
SNP Position Transcript:      1238
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,2|C,297)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 406,(L,TTG) (L,CTG)



Context              (SEQ ID NO:4747):
TCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATT
Y
TACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCT
Celera SNP ID:                hCV7540417
SNP Position Transcript:      892
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 290,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4748):
GGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGA
Y
AAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTG
Celera SNP ID:                hCV11638787
SNP Position Transcript:      226
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,9|C,291) ; no_pop(T,115|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 68,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4749):
CTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGA
Y
ACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGAT
Celera SNP ID:                hCV14938
SNP Position Transcript:      359
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1674|C,4119) ; no_pop(T,464|C,252) ; no_pop
(T,81|C,39)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 113,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4750):
CTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCC
Y
GTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTC
Celera SNP ID:                hCV15968481
SNP Position Transcript:      874
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,0)  total(C,73|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 284,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2522|T,458) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 284,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4751):
ATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAA
Y
GTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGA
Celera SNP ID:                hCV11638763
SNP Position Transcript:      1093
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,5336|T,976) ; no_pop(C,-|T,-) ; no_pop(C,1872|T,252) ; no_pop
(C,208|T,28)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 357,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4752):
CACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACT
R
GCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTG
Celera SNP ID:                hCV27540172
SNP Position Transcript:      312
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:502, 97,(W,TGG) (*,TAG)



Context              (SEQ ID NO:4753):
ATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGC
R
GCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGC
Celera SNP ID:                hCV11638781
SNP Position Transcript:      1383
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,297)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 454,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:4754):
GTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCA
S
GGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTG
Celera SNP ID:                hCV27474189
SNP Position Transcript:      150
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 43,(R,AGG) (T,ACG)



Context              (SEQ ID NO:4755):
GGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCA
Y
TTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGC
Celera SNP ID:                hCV2726011
SNP Position Transcript:      763
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,35|T,1)  total(C,74|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 247,(H,CAC) (H,CAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,18|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 247,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4756):
TGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCA
W
GAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCA
Celera SNP ID:                hCV26884762
SNP Position Transcript:      1183
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,252|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 387,(H,CAT) (Q,CAA)



Context              (SEQ ID NO:4757):
CACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCC
R
CAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCC
Celera SNP ID:                hDV68616358
SNP Position Transcript:      143
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:502, 41,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4758):
TGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAA
R
TACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGT
Celera SNP ID:                hCV30634036
SNP Position Transcript:      1270
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 416,(K,AAA) (K,AAG)



Context              (SEQ ID NO:4759):
ACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTC
S
GTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGG
Celera SNP ID:                hCV30634037
SNP Position Transcript:      1372
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:502, 450,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4760):
TTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCC
M
CAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTC
Celera SNP ID:                hCV30634038
SNP Position Transcript:      1425
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:502, None



Context              (SEQ ID NO:4761):
GGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCC
R
CCACTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTAC
Celera SNP ID:                hCV32369314
SNP Position Transcript:      1815
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:502, None



Context              (SEQ ID NO:4762):
ATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACC
R
CTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTACAGA
Celera SNP ID:                hCV2726014
SNP Position Transcript:      1818
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,1135|G,627) ; no_pop(A,10|G,1) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:502, None



Context              (SEQ ID NO:4763):
GCCAGCGGACAGGCACAGGCAGGGCCTACAGAGGTGCCAAGGCCCCAGGCCAGTTGTGCTAGGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCC
W
ACTGCACAGGCTTGTGCCTTGGTGCCCCCTGGAGGCAGCAGGGAGGAGGCTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGA
Celera SNP ID:                hCV27471395
SNP Position Transcript:      1987
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1226|A,244) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:502, None



Context              (SEQ ID NO:4764):
CTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGATGGGCTGCCCCTCCTTCCTGCCAGAGCCACAGCTCA
M
GGGCAGTGGGATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCCTTTGGCTCCGAGGAGGCCCTGAGCACTGCCCACCCCC
Celera SNP ID:                hCV7540410
SNP Position Transcript:      2137
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:502, None



Gene Number:                  98
Celera Gene:                  hCG2039431 - 208000027149733
Celera Transcript:            hCT2258516 - 208000027149772
Public Transcript Accession:  NM_000120
Celera Protein:               hCP1806342 - 208000027149690
Public Protein Accession:     NP_000111
Gene Symbol:                  EPHX1
Protein Name:                  epoxide hydrolase 1, microsomal (xenobiotic)
Celera Genomic Axis:          GA_x5YUV32VWMC(1764047..1812133)
Chromosome:                   1
OMIM NUMBER:                  132810
OMIM Information:             ?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1);/Hyperch
olanemia, familial, 607748 (3)



Transcript Sequence  (SEQ ID NO:242):
CTGACTTGGCAGGACTGTGCAATTGTCAGAAGGCCGTGGGGAGTGGGGGCCAGTGCCTGCAGCCTGCCCTGCCTCTCTCACAGGCCCTTAGAGCATCGCC
AGGTGCAGAGCTCCACAGCTCTCTTTCCCAAGGAGTAATCAGAGGGTGAGAACGTGGAGCCTGGTGGACAGGTGAAAGCACTGGGATCTTTCTGCCCAGA
AAGGGGAAAGTTGCACATTTATATCCTAGAGGGAAGCGACAGCAGTGCTTCTCCCTGTGCTGAGGTACAGGAGCCATGTGGCTAGAAATCCTCCTCACTT
CAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGC
CAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCT
TTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGA
TTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAA
GCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTGAGCGATGAG
CACGTTTTTGAAGTCATCTGCCCTTCCATCCCTGGCTATGGCTTCTCAGAGGCATCCTCCAAGAAGGGGTTCAACTCGGTGGCCACCGCCAGGATCTTTT
ACAAGCTGATGCTGCGGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCA
CGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACT
GAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACA
CCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCTATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGA
TGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAG
GAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGC
CTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGC
CCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCT
TGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTCACCCCTCCAAGCTCACTCCCCA
ACCCCCAACTCCGTGTGGTAAGCAACATGGCTTTGATGATAAACGACTTTACTCTAAAAGCGGCTGGAACTCAGTGACATGAGCGTGCGCTGACCCCACA
TGGGGCCCCCTGTGCAAGCAGAGCTGGCCGGCCCCTCCTTGCTGGCAGAGGCACGGGAGGCCTGCTGGGGATGAGGCCACTGGCCAGGGCTATGCTGCAC
CAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACCACTGCGGGGGCAAGTCAGCGTCAAGAGAGT
CCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTACAGAGGTGCCAAGGCCCCAGGCCAGTTGTGCTA
GGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCCTACTGCACAGGCTTGTGCCTTGGTGCCCCCTGGAGGCAGCAGGGAGGAGGCTTCTCAGGCA
GAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGATGGGCTGCCCCTCCTTCCTGCCAGAGCCACAGCTCAAGGGCAGTGGG
ATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCCTTTGGCTCCGAGGAGGCCCTGAGCACTGCCCACCCCCACACC


Protein Sequence     (SEQ ID NO:503):
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNE
FDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFN
SVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*



SNP Information


Context              (SEQ ID NO:4765):
CTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATC
Y
GCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCA
Celera SNP ID:                hCV11638788
SNP Position Transcript:      420
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 49,(R,CGC) (C,TGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,594)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 49,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4766):
ACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTT
R
AGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGA
Celera SNP ID:                hCV25614902
SNP Position Transcript:      1037
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,36|G,2)  total(A,76|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 254,(L,TTA) (L,TTG)



Context              (SEQ ID NO:4767):
TGCCTGCAGCCTGCCCTGCCTCTCTCACAGGCCCTTAGAGCATCGCCAGGTGCAGAGCTCCACAGCTCTCTTTCCCAAGGAGTAATCAGAGGGTGAGAAC
R
TGGAGCCTGGTGGACAGGTGAAAGCACTGGGATCTTTCTGCCCAGAAAGGGGAAAGTTGCACATTTATATCCTAGAGGGAAGCGACAGCAGTGCTTCTCC
Celera SNP ID:                hCV11638790
SNP Position Transcript:      154
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,299)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4768):
CAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCC
R
TACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTG
Celera SNP ID:                hCV11638783
SNP Position Transcript:      691
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2488|G,504) ; no_pop(A,632|G,1904) ; no_pop
(A,2176|G,544)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 139,(H,CAT) (R,CGT)



Context              (SEQ ID NO:4769):
ATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATT
Y
GACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGC
Celera SNP ID:                hCV11638786
SNP Position Transcript:      578
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,290|C,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 101,(F,TTT) (F,TTC)



Context              (SEQ ID NO:4770):
ACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAA
R
ATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCT
Celera SNP ID:                hCV15968483
SNP Position Transcript:      632
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 119,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4771):
GAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCT
M
CAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCAC
Celera SNP ID:                hCV1115304
SNP Position Transcript:      1396
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,12|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 374,(Y,TAC) (S,TCC)



Context              (SEQ ID NO:4772):
CTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTA
Y
TGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGA
Celera SNP ID:                hCV11638782
SNP Position Transcript:      1491
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,2|C,297)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 406,(L,TTG) (L,CTG)



Context              (SEQ ID NO:4773):
TCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATT
Y
TACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCT
Celera SNP ID:                hCV7540417
SNP Position Transcript:      1145
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 290,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4774):
GGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGA
Y
AAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTG
Celera SNP ID:                hCV11638787
SNP Position Transcript:      479
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,9|C,291) ; no_pop(T,115|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 68,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4775):
CTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGA
Y
ACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGAT
Celera SNP ID:                hCV14938
SNP Position Transcript:      612
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1674|C,4119) ; no_pop(T,464|C,252) ; no_pop
(T,81|C,39)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 113,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4776):
CTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCC
Y
GTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTC
Celera SNP ID:                hCV15968481
SNP Position Transcript:      1127
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,0)  total(C,73|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 284,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2522|T,458) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 284,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4777):
ATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAA
Y
GTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGA
Celera SNP ID:                hCV11638763
SNP Position Transcript:      1346
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,5336|T,976) ; no_pop(C,-|T,-) ; no_pop(C,1872|T,252) ; no_pop
(C,208|T,28)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 357,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4778):
CACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACT
R
GCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTG
Celera SNP ID:                hCV27540172
SNP Position Transcript:      565
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:503, 97,(W,TGG) (*,TAG)



Context              (SEQ ID NO:4779):
ATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGC
R
GCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGC
Celera SNP ID:                hCV11638781
SNP Position Transcript:      1636
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,297)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 454,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:4780):
CTGACTTGGCAGGACTGTGCAATTGTCAGAAGGCCGTGGGGAGTGGGGGCCAGTGCCTGCA
K
CCTGCCCTGCCTCTCTCACAGGCCCTTAGAGCATCGCCAGGTGCAGAGCTCCACAGCTCTCTTTCCCAAGGAGTAATCAGAGGGTGAGAACGTGGAGCCT
Celera SNP ID:                hCV27471394
SNP Position Transcript:      62
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|G,-) ; no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4781):
CTGACTTGGCAGGACTGTGCAATTGTCAGAAGGCCGTGGGGAGTGGGGGCCAGTGCCTGCAGCCT
R
CCCTGCCTCTCTCACAGGCCCTTAGAGCATCGCCAGGTGCAGAGCTCCACAGCTCTCTTTCCCAAGGAGTAATCAGAGGGTGAGAACGTGGAGCCTGGTG
Celera SNP ID:                hCV2725991
SNP Position Transcript:      66
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,8|A,1) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4782):
GTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCA
S
GGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTG
Celera SNP ID:                hCV27474189
SNP Position Transcript:      403
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 43,(R,AGG) (T,ACG)



Context              (SEQ ID NO:4783):
GGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCA
Y
TTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGC
Celera SNP ID:                hCV2726011
SNP Position Transcript:      1016
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,35|T,1)  total(C,74|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 247,(H,CAC) (H,CAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,18|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 247,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4784):
TGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCA
W
GAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCA
Celera SNP ID:                hCV26884762
SNP Position Transcript:      1436
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,252|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 387,(H,CAT) (Q,CAA)



Context              (SEQ ID NO:4785):
CACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCC
R
CAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCC
Celera SNP ID:                hDV68616358
SNP Position Transcript:      396
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:503, 41,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4786):
TGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAA
R
TACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGT
Celera SNP ID:                hCV30634036
SNP Position Transcript:      1523
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 416,(K,AAA) (K,AAG)



Context              (SEQ ID NO:4787):
ACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTC
S
GTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGG
Celera SNP ID:                hCV30634037
SNP Position Transcript:      1625
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:503, 450,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4788):
TTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCC
M
CAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTC
Celera SNP ID:                hCV30634038
SNP Position Transcript:      1678
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4789):
GGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCC
R
CCACTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTAC
Celera SNP ID:                hCV32369314
SNP Position Transcript:      2068
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4790):
ATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACC
R
CTGCGGGGGCAAGTCAGCGTCAAGAGAGTCCCTGAGTGAGAAGGCCCAGATAAGCCCAGGCCCCCCAGGCCAGCGGACAGGCACAGGCAGGGCCTACAGA
Celera SNP ID:                hCV2726014
SNP Position Transcript:      2071
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,1135|G,627) ; no_pop(A,10|G,1) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4791):
GCCAGCGGACAGGCACAGGCAGGGCCTACAGAGGTGCCAAGGCCCCAGGCCAGTTGTGCTAGGAGCCTGGACCTGCTCTTCCACACCCCCATCCCGCCCC
W
ACTGCACAGGCTTGTGCCTTGGTGCCCCCTGGAGGCAGCAGGGAGGAGGCTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGA
Celera SNP ID:                hCV27471395
SNP Position Transcript:      2240
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,1226|A,244) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:503, None



Context              (SEQ ID NO:4792):
CTTCTCAGGCAGAAGTCTTAAGTTGCATCCCATTCCCCAGAATCCCCAGGAGGGAGAAGAGGGATGGGCTGCCCCTCCTTCCTGCCAGAGCCACAGCTCA
M
GGGCAGTGGGATGGCCCTGCACCCAGCCCAGGTACCCCTTCCTCTGTGCCGACCATGCTGTCCTTTGGCTCCGAGGAGGCCCTGAGCACTGCCCACCCCC
Celera SNP ID:                hCV7540410
SNP Position Transcript:      2390
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,92|C,-) ; no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:503, None



Gene Number:                  98
Celera Gene:                  hCG2039431 - 208000027149733
Celera Transcript:            hCT2344145 - 208000027149694
Public Transcript Accession:  NM_000120
Celera Protein:               hCP1909440 - 208000027149693
Public Protein Accession:     NP_000111
Gene Symbol:                  EPHX1
Protein Name:                  epoxide hydrolase 1, microsomal (xenobiotic)
Celera Genomic Axis:          GA_x5YUV32VWMC(1764047..1812133)
Chromosome:                   1
OMIM NUMBER:                  132810
OMIM Information:             ?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1);/Hyperch
olanemia, familial, 607748 (3)



Transcript Sequence  (SEQ ID NO:243):
CGCCTGCCGCCGCCGGAGCCTGCGAGCCGAGACCGGAATTCCGCGTCCCAGACTGTGGGCGGACGCCGCAGGGAGGGAGGCTCGCGACCCCGAGAGCGCA
CCGCGTCCCCTGGCCTGGGCGAGCTCTGCTTCCAGGGCCGTGGCTCGCTCGGCGGTGAAATGCACTTAATTTGTCACCCAAGTCGGAACACTGATTTTCA
TGCGCGTCCGTGTGAAGAGACCACCAAACAGGCTTTGTGAGCCATGTGGCTAGAAATCCTCCTCACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATC
TCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGG
TGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAA
CTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAG
ATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCT
CTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTGAGCGATGAGCACGTTTTTGAAGTCATCTGCCCTTCCATCCC
TGGCTATGGCTTCTCAGAGGCATCCTCCAAGAAGGGGTTCAACTCGGTGGCCACCGCCAGGATCTTTTACAAGCTGATGCTGCGGCTGGGCTTCCAGGAA
TTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGG
TTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAA
GGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTG
GGTCTGGCTGCCTATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACG
ACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAA
GCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAG
CTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGG
AGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGT
TTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTCACCCCTCCAAGCTCACTCCCCAACCCCCAACTCCGTGTGGTAAGCAACATGGCT
TTGATGATAAACGACTTTACTCTAAAAGCGGCTGGAACTCAGTGACATGAGCGTGCGCTGACCCCACATGGGGCCCCCTGTGCAAGCAGAGCTGGCCGGC
CCCTCCTTGCTGGCAGAGGCACGGGAGGCCTGCTGGGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAG
CGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACCACTGCGGGGGCAAGTCAGCGT


Protein Sequence     (SEQ ID NO:504):
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNE
FDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFN
SVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*



SNP Information


Context              (SEQ ID NO:4793):
CTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATC
Y
GCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCA
Celera SNP ID:                hCV11638788
SNP Position Transcript:      388
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,40|T,0)  african american(C,37|T,1)  total(C,77|T,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 49,(R,CGC) (C,TGC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,594)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 49,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4794):
ACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACATGGCTTTGGTTTT
R
AGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGA
Celera SNP ID:                hCV25614902
SNP Position Transcript:      1005
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,40|G,0)  african american(A,36|G,2)  total(A,76|G,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 254,(L,TTA) (L,TTG)



Context              (SEQ ID NO:4795):
CAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCC
R
TACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGACCCCAAGAACCATGGCCTG
Celera SNP ID:                hCV11638783
SNP Position Transcript:      659
SNP Source:                   HGMD; dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,2488|G,504) ; no_pop(A,632|G,1904) ; no_pop
(A,2176|G,544)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 139,(H,CAT) (R,CGT)



Context              (SEQ ID NO:4796):
ATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATT
Y
GACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGC
Celera SNP ID:                hCV11638786
SNP Position Transcript:      546
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,290|C,9)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 101,(F,TTT) (F,TTC)



Context              (SEQ ID NO:4797):
ACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAA
R
ATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGCACGGCTGGCCCGGCT
Celera SNP ID:                hCV15968483
SNP Position Transcript:      600
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 119,(K,AAG) (K,AAA)



Context              (SEQ ID NO:4798):
GAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCT
M
CAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCAC
Celera SNP ID:                hCV1115304
SNP Position Transcript:      1364
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,12|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 374,(Y,TAC) (S,TCC)



Context              (SEQ ID NO:4799):
CTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTA
Y
TGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGA
Celera SNP ID:                hCV11638782
SNP Position Transcript:      1459
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,2|C,297)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 406,(L,TTG) (L,CTG)



Context              (SEQ ID NO:4800):
TCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCCCGTCAAGGAGAAGGTATT
Y
TACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTCCTGTGGGTCTGGCTGCCT
Celera SNP ID:                hCV7540417
SNP Position Transcript:      1113
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 290,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4801):
GGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGA
Y
AAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTG
Celera SNP ID:                hCV11638787
SNP Position Transcript:      447
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,9|C,291) ; no_pop(T,115|C,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 68,(D,GAT) (D,GAC)



Context              (SEQ ID NO:4802):
CTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGA
Y
ACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCCCCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGAT
Celera SNP ID:                hCV14938
SNP Position Transcript:      580
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,1674|C,4119) ; no_pop(T,464|C,252) ; no_pop
(T,81|C,39)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 113,(Y,TAC) (H,CAC)



Context              (SEQ ID NO:4803):
CTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTACCC
Y
GTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACATGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGACTCTC
Celera SNP ID:                hCV15968481
SNP Position Transcript:      1095
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,37|T,3)  african american(C,36|T,0)  total(C,73|T,3)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 284,(P,CCC) (P,CCT)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,2522|T,458) ; no_pop(C,-|T,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 284,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4804):
ATATTCTAGAGAAGTTTTCCACCTGGACCAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGGAAGTTCTCCCTGGACGACCTGCTGACCAA
Y
GTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCATGAGCGGATGA
Celera SNP ID:                hCV11638763
SNP Position Transcript:      1314
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(C,5336|T,976) ; no_pop(C,-|T,-) ; no_pop(C,1872|T,252) ; no_pop
(C,208|T,28)

SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 357,(N,AAC) (N,AAT)



Context              (SEQ ID NO:4805):
CACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTATGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACT
R
GCGGAATGAATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTCAAGACTAAGATTGAAGGGCTGGACATCCACTTCATCCACGTG
Celera SNP ID:                hCV27540172
SNP Position Transcript:      533
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:504, 97,(W,TGG) (*,TAG)



Context              (SEQ ID NO:4806):
ATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGC
R
GCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGC
Celera SNP ID:                hCV11638781
SNP Position Transcript:      1604
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,2|A,297)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 454,(R,CGG) (Q,CAG)



Context              (SEQ ID NO:4807):
GTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCCGCAGCCA
S
GGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCCACCTTTG
Celera SNP ID:                hCV27474189
SNP Position Transcript:      371
SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 43,(R,AGG) (T,ACG)



Context              (SEQ ID NO:4808):
GGCTGGGCTTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCACTAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCA
Y
TTGAACATGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAGCGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGC
Celera SNP ID:                hCV2726011
SNP Position Transcript:      984
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,39|T,1)  african american(C,35|T,1)  total(C,74|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 247,(H,CAC) (H,CAT)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,18|T,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 247,(H,CAC) (H,CAT)



Context              (SEQ ID NO:4809):
TGCTGACCAACGTCATGCTCTACTGGACAACAGGCACCATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGATGACCCAGAAGCA
W
GAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAAGTACCCAAAGCTCA
Celera SNP ID:                hCV26884762
SNP Position Transcript:      1404
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,252|T,-) ; no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 387,(H,CAT) (Q,CAA)



Context              (SEQ ID NO:4810):
CACTTCAGTGCTGGGCTTTGCCATCTACTGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTGGTGGGGGCCAGGCACGAGGTCC
R
CAGCCAGGGAGGACGACAGCATCCGCCCTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGGATCGATAAGTTCCGTTTCACCCC
Celera SNP ID:                hDV68616358
SNP Position Transcript:      364
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:504, 41,(A,GCA) (T,ACA)



Context              (SEQ ID NO:4811):
TGACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTGCCTTCCCTTTTGAGCTATTGCACACGCCTGAAAAGTGGGTGAGGTTCAA
R
TACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGT
Celera SNP ID:                hCV30634036
SNP Position Transcript:      1491
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 416,(K,AAA) (K,AAG)



Context              (SEQ ID NO:4812):
ACCCAAAGCTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGCGGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTC
S
GTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGG
Celera SNP ID:                hCV30634037
SNP Position Transcript:      1593
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:504, 450,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4813):
TTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGTCGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCCCCCC
M
CAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGAGGAATGAGTTTGCCTCCGTCCCCTGCCCATGCTGGGAGCCCACGCTCACCCCCTC
Celera SNP ID:                hCV30634038
SNP Position Transcript:      1646
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(C,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:504, None



Context              (SEQ ID NO:4814):
GGGATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCC
R
CCACTGCGGGGGCAAGTCAGCGT
Celera SNP ID:                hCV32369314
SNP Position Transcript:      2036
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:504, None



Context              (SEQ ID NO:4815):
ATGAGGCCACTGGCCAGGGCTATGCTGCACCAGACCAATGGCACCGCCCCCACCCCTCCCAGCGCAGGGGCAGCTTGGAGCAGAGGCAGCACTGGCCACC
R
CTGCGGGGGCAAGTCAGCGT
Celera SNP ID:                hCV2726014
SNP Position Transcript:      2039
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(A,1135|G,627) ; no_pop(A,10|G,1) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:504, None



Gene Number:                  99
Celera Gene:                  hCG2039450 - 208000027162714
Celera Transcript:            hCT2309553 - 208000027162700
Public Transcript Accession:  NM_001876
Celera Protein:               hCP1901811 - 208000027162705
Public Protein Accession:     NP_001867
Gene Symbol:                  CPT1A
Protein Name:                  carnitine palmitoyltransferase 1A (liver)
Celera Genomic Axis:          GA_x5YUV32VYAU(14202585..14299809)
Chromosome:                   11
OMIM NUMBER:                  600528
OMIM Information:             CPT deficiency, hepatic, type IA, 255120 (3)


Transcript Sequence  (SEQ ID NO:244):
CTCACCTGCCTCACCTGGCTGCTGTCTGTTTCCAGGAAGAGGGCATCAGTGGGCGAAAACAGGAAAATCATCCTGTGCTTCCAGGTACTCTCTGAAGATG
GCAGAAGCTCACCAAGCTGTGGCCTTTCAGTTCACGGTCACTCCGGACGGGATTGACCTGCGGCTGAGCCATGAAGCTCTTAGACAAATCTATCTCTCTG
GACTTCATTCCTGGAAAAAGAAGTTCATCAGATTCAAGAACGGCATCATCACTGGCGTGTACCCGGCAAGCCCCTCCAGTTGGCTTATCGTGGTGGTGGG
CGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACG
AAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGT
GGATGTTCACTGAGCACGGCAAGATGAGTCGTGCCACCAAGATCTGGATGGGTATGGTCAAGATCTTTTCAGGCCGAAAACCCATGTTGTACAGCTTCCA
GACATCGCTGCCTCGCCTGCCGGTCCCGGCTGTCAAAGACACTGTGAACAGGTATCTACAGTCGGTGAGGCCTCTTATGAAGGAAGAAGACTTCAAACGG
ATGACAGCACTTGCTCAAGATTTTGCTGTCGGTCTTGGACCAAGATTACAGTGGTATTTGAAGTTAAAATCCTGGTGGGCTACAAATTACGTGAGCGACT
GGTGGGAGGAGTACATCTACCTCCGAGGACGAGGGCCGCTCATGGTGAACAGCAACTATTATGCCATGGATCTGCTGTATATCCTTCCAACTCACATTCA
GGCAGCAAGAGCCGGCAACGCCATCCATGCCATCCTGCTTTACAGGCGCAAACTGGACCGGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATT
CCACTCTGCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGACACCATCCAGCACATGAGAGACAGCAAGCACATCG
TCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGAAGCCCCGGGAGATGGAGCAGCAGATGCAGAGGATCCTGGA
CAATACCTCGGAGCCTCAGCCCGGGGAGGCCAGGCTGGCAGCCCTCACCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGT
GGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGTTCTTCGTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGT
CAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGACAGGTGGTTTGACAAGTCGTTCACGTTTGTTGTCTTCAAAAACGGGAAGATGGG
CCTCAACGCTGAACACTCCTGGGCAGATGCGCCGATCGTGGCCCACCTTTGGGAGTACGTCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAGGAT
GGGCACTGCAAAGGCGACATCAATCCGAACATTCCGTACCCCACCAGGCTGCAGTGGGACATCCCGGGGGAATGTCAAGAGGTTATAGAGACCTCCCTGA
ACACCGCAAATCTTCTGGCAAACGACGTGGATTTCCATTCCTTCCCATTCGTAGCCTTTGGTAAAGGAATCATCAAGAAATGTCGCACGAGCCCAGACGC
CTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATGGGCAAGTTTTGCCTCACATACGAGGCCTCCATGACCCGGCTCTTCCGAGAGGGGAGG
ACGGAGACCGTGCGCTCCTGCACCACTGAGTCATGCGACTTCGTGCGGGCCATGGTGGACCCGGCCCAGACGGTGGAACAGAGGCTGAAGTTGTTCAAGT
TGGCGTCTGAGAAGCATCAGCATATGTATCGCCTCGCCATGACCGGCTCTGGGATCGATCGTCACCTCTTCTGCCTTTACGTGGTGTCTAAATATCTCGC
TGTGGAGTCCCCTTTCCTTAAGGAAGTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAAT
AACCCAGAGTACGTGTCCAGCGGAGGGGGCTTTGGACCGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCC
ACATTTCTTCCAAGTTCTCTTGCCCTGAGACGGATTCTCATCGCTTTGGAAGGCACCTGAAAGAAGCAATGACTGACATCATCACTTTGTTTGGTCTCAG
TTCTAATTCCAAAAAGTAATTCCACTGGAGCTGCTGGGAAGGAAAACGAGCTCTTCTGATGCAAACCAAATGAAAAATAGGCATTAATCCTGACCTTAGC
TCGGGATGAAACACTGCTCTTAAAAAAACTCAGTTTTCCTTCCAGAAAATGTGGGTGTTTTTTTTTCCTAGAACAGTATCTCTCCCCTGTGAAGCATAAC
CCCACTACTTCCAGACTTGCCCTCCCTTGGGGGACATCTGATAAAGTCTCCCCTGATGTCTCCGCATCGGCTTGGATTTATTAAGGGATGCAAATCTTGT
TGAGTTAATGAAGGAATTAGTAGGGTTGTGGCTTCACACACAGTGGAATGGAAATGGTGTGCTTTCTCAGTGGCAACCGAAGGCCTAGTGCTTAAGGGCA
TTTAGCATCATCCAAGCAGGGTAAACTTTTGTTTTGTTAAAAGAAAAATGTGTTATTCAAGTTGGTGTCCCCAGTTGTAGCTAACACATCTGGAATGCAC
TAACCAAAATGCTGTGCTTTGGAGACCTGCTTTTGTCACCGTGGGTAACCGTTCCCGTCTGGTCCAGTAGCCTGTGTTTGCCTCTCCACATTTGAAGCAA
GCAGGATGCAAGGTCTTCAGTTTTACTGACCTTGTATGTCTTCAAGTCTTCACAACCCAGTGCCTTAAAAATGAAAGGCCCTAAATGTAAGGGAGATGGA
GAGAAAGATTTATTTTGTAGAGTCTTTGGGTGGAATTGTGGGTATACTGTTCCCTTCACAATTGACTGAGTATGGATAACCGTACATAAGCATTTGCTAC
ACCCCACCAGCCCCCTCCCCCTCAGAAACACCAGTTC


Protein Sequence     (SEQ ID NO:505):
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQ
TKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFK
RMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGST
IPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFG
RGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAE
DGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREG
RTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLE
NNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK*



SNP Information


Context              (SEQ ID NO:4816):
GATGCGCCGATCGTGGCCCACCTTTGGGAGTACGTCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAGGATGGGCACTGCAAAGGCGACATCAATC
Y
GAACATTCCGTACCCCACCAGGCTGCAGTGGGACATCCCGGGGGAATGTCAAGAGGTTATAGAGACCTCCCTGAACACCGCAAATCTTCTGGCAAACGAC
Celera SNP ID:                hCV25604861
SNP Position Transcript:      1626
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,36)  total(T,2|C,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 510,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4817):
GAACACCGCAAATCTTCTGGCAAACGACGTGGATTTCCATTCCTTCCCATTCGTAGCCTTTGGTAAAGGAATCATCAAGAAATGTCGCACGAGCCCAGAC
R
CCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATGGGCAAGTTTTGCCTCACATACGAGGCCTCCATGACCCGGCTCTTCCGAGAGGGGAG
Celera SNP ID:                hCV11472840
SNP Position Transcript:      1799
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 568,(A,GCC) (T,ACC)



Context              (SEQ ID NO:4818):
GTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATAACCCAGAGTACGTGTCCAGCGGAG
R
GGGCTTTGGACCGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTCTCTTGCCCT
Celera SNP ID:                hCV27861702
SNP Position Transcript:      2226
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 710,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4819):
CACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGAAGCCC
Y
GGGAGATGGAGCAGCAGATGCAGAGGATCCTGGACAATACCTCGGAGCCTCAGCCCGGGGAGGCCAGGCTGGCAGCCCTCACCGCAGGAGACAGAGTTCC
Celera SNP ID:                hCV27859780
SNP Position Transcript:      1166
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 357,(R,CGG) (W,TGG)



Context              (SEQ ID NO:4820):
GACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATG
Y
GCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCACGGCAAGATGAGTCGTGCCACCAAGATCTGGATGGGTATGGTCAAGAT
Celera SNP ID:                hCV27859779
SNP Position Transcript:      464
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 123,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4821):
CCTCCGAGGACGAGGGCCGCTCATGGTGAACAGCAACTATTATGCCATGGATCTGCTGTATATCCTTCCAACTCACATTCAGGCAGCAAGAGCCGGCAAC
R
CCATCCATGCCATCCTGCTTTACAGGCGCAAACTGGACCGGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATTCCACTCTGCTCCGCTCAGTG
Celera SNP ID:                hCV15851335
SNP Position Transcript:      920
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,36|A,0)  total(G,75|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 275,(A,GCC) (T,ACC)

SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 275,(A,GCC) (T,ACC)



Context              (SEQ ID NO:4822):
AGAACGGCATCATCACTGGCGTGTACCCGGCAAGCCCCTCCAGTTGGCTTATCGTGGTGGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTC
R
TTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCC
Celera SNP ID:                hCV25604848
SNP Position Transcript:      337
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,36|A,2)  total(G,76|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 80,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4823):
GGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGC
Y
AGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCA
Celera SNP ID:                hCV27859778
SNP Position Transcript:      395
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:505, 100,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4824):
GGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATTCCACTCTGCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGA
R
ACAGACACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGA
Celera SNP ID:                hCV31054662
SNP Position Transcript:      1060
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 321,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4825):
TGGCGTCTGAGAAGCATCAGCATATGTATCGCCTCGCCATGACCGGCTCTGGGATCGATCGTCACCTCTTCTGCCTTTACGTGGTGTCTAAATATCTCGC
Y
GTGGAGTCCCCTTTCCTTAAGGAAGTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATA
Celera SNP ID:                hCV16171307
SNP Position Transcript:      2101
SNP Source:                   CDX
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 668,(A,GCT) (A,GCC)



Context              (SEQ ID NO:4826):
CCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCAC
Y
GGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCACGGCAAGATGAGTCGTG
Celera SNP ID:                hCV25604823
SNP Position Transcript:      433
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,0|C,38)  total(T,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 112,(T,ACC) (T,ACT)



Context              (SEQ ID NO:4827):
CCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGTTCTT
Y
GTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGACA
Celera SNP ID:                hCV15857209
SNP Position Transcript:      1348
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2688|T,244) ; no_pop(C,-|T,-) ; no_pop(C,232|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 417,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4828):
GAATCATCAAGAAATGTCGCACGAGCCCAGACGCCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATGGGCAAGTTTTGCCTCACATACGA
R
GCCTCCATGACCCGGCTCTTCCGAGAGGGGAGGACGGAGACCGTGCGCTCCTGCACCACTGAGTCATGCGACTTCGTGCGGGCCATGGTGGACCCGGCCC
Celera SNP ID:                hCV25604850
SNP Position Transcript:      1867
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,18|A,0)  total(G,51|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:505, 590,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4829):
GGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGA
Y
GAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGG
Celera SNP ID:                hCV25604834
SNP Position Transcript:      399
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 101,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4830):
GCAGCCCTCACCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAG
Y
AGCGTTCTTCGTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGA
Celera SNP ID:                hCV27859781
SNP Position Transcript:      1338
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 414,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4831):
GAAGTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATAACCCAGAGTACGTGTCCAGCG
R
AGGGGGCTTTGGACCGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTCTCTTGC
Celera SNP ID:                hCV32321569
SNP Position Transcript:      2223
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:505, 709,(E,GAA) (G,GGA)



Gene Number:                  99
Celera Gene:                  hCG2039450 - 208000027162714
Celera Transcript:            hCT2309554 - 208000027162777
Public Transcript Accession:  NM_001876
Celera Protein:               hCP1901807 - 208000027162702
Public Protein Accession:     NP_001867
Gene Symbol:                  CPT1A
Protein Name:                  carnitine palmitoyltransferase 1A (liver)
Celera Genomic Axis:          GA_x5YUV32VYAU(14202585..14299809)
Chromosome:                   11
OMIM NUMBER:                  600528
OMIM Information:             CPT deficiency, hepatic, type IA, 255120 (3)


Transcript Sequence  (SEQ ID NO:245):
AATCCGCTGCTGCCGGCGTCGGGTGCGCTCGGCCTCGCCCGCGGCCCTCCTTCCCCGGCTTCCGCTCGCCGCTCGTTCACTCCACGCGCCGCTGCCGCCG
CCGCCGCCGTCGTGCCGTGCCGCACCTCCGTAGCTGACTCGGTACTCTCTGAAGATGGCAGAAGCTCACCAAGCTGTGGCCTTTCAGTTCACGGTCACTC
CGGACGGGATTGACCTGCGGCTGAGCCATGAAGCTCTTAGACAAATCTATCTCTCTGGACTTCATTCCTGGAAAAAGAAGTTCATCAGATTCAAGAACGG
CATCATCACTGGCGTGTACCCGGCAAGCCCCTCCAGTTGGCTTATCGTGGTGGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGA
ATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGG
TGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCACGGCAAGATGAGTCGTGCCACCAAGAT
CTGGATGGGTATGGTCAAGATCTTTTCAGGCCGAAAACCCATGTTGTACAGCTTCCAGACATCGCTGCCTCGCCTGCCGGTCCCGGCTGTCAAAGACACT
GTGAACAGGTATCTACAGTCGGTGAGGCCTCTTATGAAGGAAGAAGACTTCAAACGGATGACAGCACTTGCTCAAGATTTTGCTGTCGGTCTTGGACCAA
GATTACAGTGGTATTTGAAGTTAAAATCCTGGTGGGCTACAAATTACGTGAGCGACTGGTGGGAGGAGTACATCTACCTCCGAGGACGAGGGCCGCTCAT
GGTGAACAGCAACTATTATGCCATGGATCTGCTGTATATCCTTCCAACTCACATTCAGGCAGCAAGAGCCGGCAACGCCATCCATGCCATCCTGCTTTAC
AGGCGCAAACTGGACCGGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATTCCACTCTGCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCC
GGATCCCAGGAGAGGAGACAGACACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCA
TGATGGGCGGCTGCTGAAGCCCCGGGAGATGGAGCAGCAGATGCAGAGGATCCTGGACAATACCTCGGAGCCTCAGCCCGGGGAGGCCAGGCTGGCAGCC
CTCACCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGT
TCTTCGTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTA
CGACAGGTGGTTTGACAAGTCGTTCACGTTTGTTGTCTTCAAAAACGGGAAGATGGGCCTCAACGCTGAACACTCCTGGGCAGATGCGCCGATCGTGGCC
CACCTTTGGGAGTACGTCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAGGATGGGCACTGCAAAGGCGACATCAATCCGAACATTCCGTACCCCA
CCAGGCTGCAGTGGGACATCCCGGGGGAATGTCAAGAGGTTATAGAGACCTCCCTGAACACCGCAAATCTTCTGGCAAACGACGTGGATTTCCATTCCTT
CCCATTCGTAGCCTTTGGTAAAGGAATCATCAAGAAATGTCGCACGAGCCCAGACGCCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATG
GGCAAGTTTTGCCTCACATACGAGGCCTCCATGACCCGGCTCTTCCGAGAGGGGAGGACGGAGACCGTGCGCTCCTGCACCACTGAGTCATGCGACTTCG
TGCGGGCCATGGTGGACCCGGCCCAGACGGTGGAACAGAGGCTGAAGTTGTTCAAGTTGGCGTCTGAGAAGCATCAGCATATGTATCGCCTCGCCATGAC
CGGCTCTGGGATCGATCGTCACCTCTTCTGCCTTTACGTGGTGTCTAAATATCTCGCTGTGGAGTCCCCTTTCCTTAAGGAAGTTTTATCTGAGCCTTGG
AGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATAACCCAGAGTACGTGTCCAGCGGAGGGGGCTTTGGACCGGTTG
CTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTCTCTTGCCCTGAGACGGATTCTCATCG
CTTTGGAAGGCACCTGAAAGAAGCAATGACTGACATCATCACTTTGTTTGGTCTCAGTTCTAATTCCAAAAAGTAATTCCACTGGAGCTGCTGGGAAGGA
AAACGAGCTCTTCTGATGCAAACCAAATGAAAAATAGGCATTAATCCTGACCTTAGCTCGGGATGAAACACTGCTCTTAAAAAAACTCAGTTTTCCTTCC
AGAAAATGTGGGTGTTTTTTTTTCCTAGAACAGTATCTCTCCCCTGTGAAGCATAACCCCACTACTTCCAGACTTGCCCTCCCTTGGGGGACATCTGATA
AAGTCTCCCCTGATGTCTCCGCATCGGCTTGGATTTATTAAGGGATGCAAATCTTGTTGAGTTAATGAAGGAATTAGTAGGGTTGTGGCTTCACACACAG
TGGAATGGAAATGGTGTGCTTTCTCAGTGGCAACCGAAGGCCTAGTGCTTAAGGGCATTTAGCATCATCCAAGCAGGGTAAACTTTTGTTTTGTTAAAAG
AAAAATGTGTTATTCAAGTTGGTGTCCCCAGTTGTAGCTAACACATCTGGAATGCACTAACCAAAATGCTGTGCTTTGGAGACCTGCTTTTGTCACCGTG
GGTAACCGTTCCCGTCTGGTCCAGTAGCCTGTGTTTGCCTCTCCACATTTGAAGCAAGCAGGATGCAAGGTCTTCAGTTTTACTGACCTTGTATGTCTTC
AAGTCTTCACAACCCAGTGCCTTAAAAATGAAAGGCCCTAAATGTAAGGGAGATGGAGAGAAAGATTTATTTTGTAGAGTCTTTGGGTGGAATTGTGGGT
ATACTGTTCCCTTCACAATTGACTGAGTATGGATAACCGTACATAAGCATTTGCTACACCCCACCAGCCCCCTCCCCCTCAGAAACACCAGTTC


Protein Sequence     (SEQ ID NO:506):
MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYAKIDPSLGIIAKINRTLETANCMSSQ
TKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIWMGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFK
RMTALAQDFAVGLGPRLQWYLKLKSWWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGST
IPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQPGEARLAALTAGDRVPWARCRQAYFG
RGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYDRWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAE
DGHCKGDINPNIPYPTRLQWDIPGECQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREG
RTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLKEVLSEPWRLSTSQTPQQQVELFDLE
NNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRFGRHLKEAMTDIITLFGLSSNSKK*



SNP Information


Context              (SEQ ID NO:4832):
GATGCGCCGATCGTGGCCCACCTTTGGGAGTACGTCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAGGATGGGCACTGCAAAGGCGACATCAATC
Y
GAACATTCCGTACCCCACCAGGCTGCAGTGGGACATCCCGGGGGAATGTCAAGAGGTTATAGAGACCTCCCTGAACACCGCAAATCTTCTGGCAAACGAC
Celera SNP ID:                hCV25604861
SNP Position Transcript:      1683
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,36)  african american(T,2|C,36)  total(T,2|C,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 510,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4833):
GAACACCGCAAATCTTCTGGCAAACGACGTGGATTTCCATTCCTTCCCATTCGTAGCCTTTGGTAAAGGAATCATCAAGAAATGTCGCACGAGCCCAGAC
R
CCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATGGGCAAGTTTTGCCTCACATACGAGGCCTCCATGACCCGGCTCTTCCGAGAGGGGAG
Celera SNP ID:                hCV11472840
SNP Position Transcript:      1856
SNP Source:                   Nickerson; HapMap
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 568,(A,GCC) (T,ACC)



Context              (SEQ ID NO:4834):
GTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATAACCCAGAGTACGTGTCCAGCGGAG
R
GGGCTTTGGACCGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTCTCTTGCCCT
Celera SNP ID:                hCV27861702
SNP Position Transcript:      2283
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 710,(G,GGG) (E,GAG)



Context              (SEQ ID NO:4835):
CACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGAAGCCC
Y
GGGAGATGGAGCAGCAGATGCAGAGGATCCTGGACAATACCTCGGAGCCTCAGCCCGGGGAGGCCAGGCTGGCAGCCCTCACCGCAGGAGACAGAGTTCC
Celera SNP ID:                hCV27859780
SNP Position Transcript:      1223
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 357,(R,CGG) (W,TGG)



Context              (SEQ ID NO:4836):
GACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATG
Y
GCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCACGGCAAGATGAGTCGTGCCACCAAGATCTGGATGGGTATGGTCAAGAT
Celera SNP ID:                hCV27859779
SNP Position Transcript:      521
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 123,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4837):
CCTCCGAGGACGAGGGCCGCTCATGGTGAACAGCAACTATTATGCCATGGATCTGCTGTATATCCTTCCAACTCACATTCAGGCAGCAAGAGCCGGCAAC
R
CCATCCATGCCATCCTGCTTTACAGGCGCAAACTGGACCGGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATTCCACTCTGCTCCGCTCAGTG
Celera SNP ID:                hCV15851335
SNP Position Transcript:      977
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,39|A,1)  african american(G,36|A,0)  total(G,75|A,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 275,(A,GCC) (T,ACC)

SNP Source:                   HGMD
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 275,(A,GCC) (T,ACC)



Context              (SEQ ID NO:4838):
AGAACGGCATCATCACTGGCGTGTACCCGGCAAGCCCCTCCAGTTGGCTTATCGTGGTGGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTC
R
TTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCC
Celera SNP ID:                hCV25604848
SNP Position Transcript:      394
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,36|A,2)  total(G,76|A,2)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 80,(S,TCG) (S,TCA)



Context              (SEQ ID NO:4839):
GGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGC
Y
AGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCA
Celera SNP ID:                hCV27859778
SNP Position Transcript:      452
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:506, 100,(Q,CAG) (*,TAG)



Context              (SEQ ID NO:4840):
GGGAGGAAATCAAACCAATTCGTCTTTTGGGATCCACGATTCCACTCTGCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGA
R
ACAGACACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGACGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGA
Celera SNP ID:                hCV31054662
SNP Position Transcript:      1117
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 321,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4841):
TGGCGTCTGAGAAGCATCAGCATATGTATCGCCTCGCCATGACCGGCTCTGGGATCGATCGTCACCTCTTCTGCCTTTACGTGGTGTCTAAATATCTCGC
Y
GTGGAGTCCCCTTTCCTTAAGGAAGTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATA
Celera SNP ID:                hCV16171307
SNP Position Transcript:      2158
SNP Source:                   CDX
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 668,(A,GCT) (A,GCC)



Context              (SEQ ID NO:4842):
CCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCAC
Y
GGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCACGGCAAGATGAGTCGTG
Celera SNP ID:                hCV25604823
SNP Position Transcript:      490
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,1|C,39)  african american(T,0|C,38)  total(T,1|C,77)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 112,(T,ACC) (T,ACT)



Context              (SEQ ID NO:4843):
CCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGTTCTT
Y
GTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGACA
Celera SNP ID:                hCV15857209
SNP Position Transcript:      1405
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2688|T,244) ; no_pop(C,-|T,-) ; no_pop(C,232|T,8)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 417,(F,TTC) (F,TTT)



Context              (SEQ ID NO:4844):
GAATCATCAAGAAATGTCGCACGAGCCCAGACGCCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAGGACATGGGCAAGTTTTGCCTCACATACGA
R
GCCTCCATGACCCGGCTCTTCCGAGAGGGGAGGACGGAGACCGTGCGCTCCTGCACCACTGAGTCATGCGACTTCGTGCGGGCCATGGTGGACCCGGCCC
Celera SNP ID:                hCV25604850
SNP Position Transcript:      1924
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,33|A,1)  african american(G,18|A,0)  total(G,51|A,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:506, 590,(E,GAG) (E,GAA)



Context              (SEQ ID NO:4845):
GGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCGTTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGCCAACTGCATGTCCAGCCAGA
Y
GAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTCACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGG
Celera SNP ID:                hCV25604834
SNP Position Transcript:      456
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,1|C,37)  total(T,1|C,77)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 101,(T,ACG) (M,ATG)



Context              (SEQ ID NO:4846):
GCAGCCCTCACCGCAGGAGACAGAGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGACGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAG
Y
AGCGTTCTTCGTGACGTTAGATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGA
Celera SNP ID:                hCV27859781
SNP Position Transcript:      1395
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 414,(A,GCA) (V,GTA)



Context              (SEQ ID NO:4847):
GAAGTTTTATCTGAGCCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAGAATAACCCAGAGTACGTGTCCAGCG
R
AGGGGGCTTTGGACCGGTTGCTGATGACGGCTATGGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTCTCTTGC
Celera SNP ID:                hCV32321569
SNP Position Transcript:      2280
SNP Source:                   HGMD
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:506, 709,(E,GAA) (G,GGA)



Gene Number:                  100
Celera Gene:                  hCG2039842 - 208000027515693
Celera Transcript:            hCT2344699 - 208000027515698
Public Transcript Accession:
Celera Protein:               hCP1909994 - 208000027515691
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x54KRFTF0MF(8626797..8717313)
Chromosome:                   5
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:246):
GTTTTGGCAAACGTCTAATGACACAGAGCCACCATTGCCAATTTCACCACTGTCTTTCACCAAGTTGATTCATTTTGAACTGGCTCCAGCAATCTACTCA
GAGTTGACCTCAGAGCAAAAAATTGAAGTGGCAACAGCTCCATATGTTGATGTGAACTGTGACTCCAGGAGAACGGTGGAAAAGTGTCTTGATCCAGGAA
GGAAGGGGTATAGAGAAAATATGAGTCTCACCACACTAGAAGCAACATATGCAAAATCCATCAAACACACCATAAAATCAATGTGGGAGTAACAACACCT
TGGCCTACTGCTCCCTGAAAAGTTTTTCTCTCGTCAAGTGATGACAGGCGTACATTTGTAAATAAATTACCAAGTTGCTTTTGATTTGATGGAGAAGGAA
GAAAAGGATTGTCTCCTGGAAGTATTTTTATTGTCTTAATAGGTAGGATAATATCTCTGTTCAGCAAACTGAGATCTTTTGAGAATCTTAACAAATGTAT
ACCCCTCCCTCTCACCTTTTCCTCTCTGGTGTATTTCATAGGCAGCTTTGCTAACTGACTGCACTACTACAAATAGATTCTGTCACTTTAGAAATAGGAT
TTTTCCTTTTATAGGCAGATTGATGGACTAAGTGTCAAGGTTTTAGAACAGTAGCATGACTGGGGCAGACACTATAAACCATAAATCCAGTATTGACAAA
TGTTCTAGCCAATCCAGATTTTCTATTTGTTAAATTGCCTTTATGAAGTCATACTTGTGCAGCACAGAATATGGAAA


Protein Sequence     (SEQ ID NO:507):
FWQTSNDTEPPLPISPLSFTKLIHFELAPAIYSELTSEQKIEVATAPYVDVNCDSRRTVEKCLDPGRKGYRENMSLTTLEATYAKSIKHTIKSMWE*


SNP Information


Context              (SEQ ID NO:4848):
CAGGAAGGAAGGGGTATAGAGAAAATATGAGTCTCACCACACTAGAAGCAACATATGCAAAATCCATCAAACACACCATAAAATCAATGTGGGAGTAACA
M
CACCTTGGCCTACTGCTCCCTGAAAAGTTTTTCTCTCGTCAAGTGATGACAGGCGTACATTTGTAAATAAATTACCAAGTTGCTTTTGATTTGATGGAGA
Celera SNP ID:                hCV25938067
SNP Position Transcript:      295
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,14|C,2)  african american(A,7|C,13)  total(A,21|C,15)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:507, 98,(Q,CAA) (H,CAC)

SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,14|C,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:507, 98,(Q,CAA) (H,CAC)



Context              (SEQ ID NO:4849):
CTTGATCCAGGAAGGAAGGGGTATAGAGAAAATATGAGTCTCACCACACTAGAAGCAACATATGCAAAATCCATCAAACACACCATAAAATCAATGTGGG
W
GTAACAACACCTTGGCCTACTGCTCCCTGAAAAGTTTTTCTCTCGTCAAGTGATGACAGGCGTACATTTGTAAATAAATTACCAAGTTGCTTTTGATTTG
Celera SNP ID:                hCV29003086
SNP Position Transcript:      288
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:507, 96,(E,GAG) (V,GTG)



Context              (SEQ ID NO:4850):
TCCAGGAAGGAAGGGGTATAGAGAAAATATGAGTCTCACCACACTAGAAGCAACATATGCAAAATCCATCAAACACACCATAAAATCAATGTGGGAGTAA
Y
AACACCTTGGCCTACTGCTCCCTGAAAAGTTTTTCTCTCGTCAAGTGATGACAGGCGTACATTTGTAAATAAATTACCAAGTTGCTTTTGATTTGATGGA
Celera SNP ID:                hCV25938065
SNP Position Transcript:      293
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,15|T,3)  african american(C,15|T,13)  total(C,30|T,16)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:507, 98,(Q,CAA) (*,TAA)

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|T,2)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:507, 98,(Q,CAA) (*,TAA)



Context              (SEQ ID NO:4851):
CACACTAGAAGCAACATATGCAAAATCCATCAAACACACCATAAAATCAATGTGGGAGTAACAACACCTTGGCCTACTGCTCCCTGAAAAGTTTTTCTCT
M
GTCAAGTGATGACAGGCGTACATTTGTAAATAAATTACCAAGTTGCTTTTGATTTGATGGAGAAGGAAGAAAAGGATTGTCTCCTGGAAGTATTTTTATT
Celera SNP ID:                hCV29003085
SNP Position Transcript:      332
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:507, None



Context              (SEQ ID NO:4852):
CTCTGTTCAGCAAACTGAGATCTTTTGAGAATCTTAACAAATGTATACCCCTCCCTCTCACCTTTTCCTCTCTGGTGTATTTCATAGGCAGCTTTGCTAA
M
TGACTGCACTACTACAAATAGATTCTGTCACTTTAGAAATAGGATTTTTCCTTTTATAGGCAGATTGATGGACTAAGTGTCAAGGTTTTAGAACAGTAGC
Celera SNP ID:                hCV29003084
SNP Position Transcript:      555
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:507, None



Context              (SEQ ID NO:4853):
GATTGATGGACTAAGTGTCAAGGTTTTAGAACAGTAGCATGACTGGGGCAGACACTATAAACCATAAATCCAGTATTGACAAATGTTCTAGCCAATCCAG
R
TTTTCTATTTGTTAAATTGCCTTTATGAAGTCATACTTGTGCAGCACAGAATATGGAAA
Celera SNP ID:                hCV1895640
SNP Position Transcript:      718
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,13|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:507, None



Gene Number:                  100
Celera Gene:                  hCG2039842 - 208000027515693
Celera Transcript:            hCT2344700 - 208000027515694
Public Transcript Accession:
Celera Protein:               hCP1909995 - 208000027515690
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x54KRFTF0MF(8626797..8717313)
Chromosome:                   5
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:247):
GTTTTGGCAAACGTCTAATGACACAGAGCCACCATTGCCAATTTCACCACTGTCTTTCACCAAGTTGATTCATTTTGAACTGGCTCCAGCAATCTACTCA
GAGTTGACCTCAGAGCAAAAAATTGAAGTGGGAAGCTGCTAAAGAATGTGCTTGACTAAAACAAGGCAATAAGCAAAAGGAAGTCATAGCATCCAGAAAA
TGGGATCCATCATGCGCACAAAGAAAAGGTGAAGAAAATTTCCAGGATGTTCAGAACCCACCAAAAACGAAAGATTCTGGTCCAGATCAGAAGAGAGGGA
AACACTCTGAAAAAGTCCCTCAAATACAAAATTAAACAGAGTTTAAATGATGTGCTTGACCACAATAAAAGGCTTCTTGCTCTGT


Protein Sequence     (SEQ ID NO:508):
FWQTSNDTEPPLPISPLSFTKLIHFELAPAIYSELTSEQKIEVGSC*


SNP Information


Context              (SEQ ID NO:4854):
GCAAAAAATTGAAGTGGGAAGCTGCTAAAGAATGTGCTTGACTAAAACAAGGCAATAAGCAAAAGGAAGTCATAGCATCCAGAAAATGGGATCCATCATG
Y
GCACAAAGAAAAGGTGAAGAAAATTTCCAGGATGTTCAGAACCCACCAAAAACGAAAGATTCTGGTCCAGATCAGAAGAGAGGGAAACACTCTGAAAAAG
Celera SNP ID:                hCV1895570
SNP Position Transcript:      215
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,6) ; no_pop(T,-|C,-) ; no_pop(T,74|C,26
6)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:508, None



Context              (SEQ ID NO:4855):
AACGAAAGATTCTGGTCCAGATCAGAAGAGAGGGAAACACTCTGAAAAAGTCCCTCAAATACAAAATTAAACAGAGTTTAAATGATGTGCTTGACCACAA
W
AAAAGGCTTCTTGCTCTGT
Celera SNP ID:                hCV1895571
SNP Position Transcript:      366
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(T,-|A,-) ; no_pop(T,6|A,5) ; no_pop(T,-|A,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:508, None



Gene Number:                  101
Celera Gene:                  hCG2038267 - 208000027038611
Celera Transcript:            hCT2342693 - 208000027038612
Public Transcript Accession:
Celera Protein:               hCP1908445 - 348067882
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(9289598..9308325)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:248):
GTACAATCCAAGTCTGTCGCTGCCCAGGATAGAGGAGGGATGACGTGAATTCACACGGGCCTCTCCTACAAATCTGAGTGTACATCAAGTGAGGGGCGTC
CCTCCGCACCTCACTGTTGGGCTGATCAATCCCATTCCCACTCCATTATGTGTGTATTTCTAAGTGGCAGATTTGCCTTAGGAAATGGAAGAAGGGGATG
AAATAGTGACCAACACAAATTACTGGGTTGGCGGGAGTTGAGAGCTGGCAAAATCGTCTTGGAGAAGGAAATGGTGCAGATTTCAGAGCTGGCAGACAGC
ATCTACATCCACCTCTGCAGGAAGCAAGGGAAACATTTTTCTTCTGGAGAATCGGGCAGCCTGCAGCTGATCCGGTGGTGTCTGAAACCATCCTGTGTGC
TGTAGTGTCAACAACTTAGCCTGGTTACTTTGCCACCAAACCCCACCAAATGCCTTTGTATCTTTTTCAGAACTGCATCTCTGCAGCATAATTGATATTA
CAGGAATGAAAAGTGTTCTGAGGCATATTATTCCCAGGGTAAAGAGTCACCGCTGATTAATTACCTCAAGGACAAGGGGACGGTGACTTTTTCTCTTGTA
TCCAGCAGCGCCACGCGGGGCGGGCGGGAGAGGCAAGGCTAAGAGGTGGATGAAAGGCTAGGGTTAAGGCATTTCACAATGTCAGGCATCTTGTTAGACT
GCGGCTTTCCAGGCCTTCCCCCGTGACTGCTGCGGGGGCCTAGGCCAAAGATATGCCCGAGTAGAAAATCTGACACCAGCTTCCCAGTTTTCTCTTCTGC
TCTCTTTGGCTGCAACGCTTTTACCATGGCTAAACCATTAGGCCGGCTCTGCAGGGAGGGCAAGACCACAGCAGCTCAGTATTTCCTGCTCAGGGAAAAA
GGCCAGGTCTTTTGTTGGTGGAAATCCACTTTTCCATCCACTGTCTTCTAAGAATGAAAGTAAATCTGTTGTGCTTTCCTCTGCCCTGTCCTCAGGCTTA
GCCTTAGTGGGCCTGGTTTTTGCCCCCCTCCAGTTTTAGCTTCCCATCTAAAATACAAGGGAAAAGACAGCAAGGACAGGACACTTCCTCCTAGTGTCTT
GTAAAGCTGCAAGGGAGTCGCGGCTGAGTCGAGGATCCACATTCCTGGATGAGTCCTTTTGTTACCAGCGGAGGGTGTCCGGGTTCTTGGCATTTTGAAG
AAATAGTTGGACAAAATGCACAAACAAAGCAAGAGAAGAATGAAGCAACAAAAGCTGAGGTTTATTGAAAGCAAAACTACACTCCATAGAGTGGGAACGG
CCCAAGCAGCCACTCAGGGGCCCTGGATAGAGAATCTTCTGGAGTCTAAATACTCCCTAGAGGTTTCCCATTGGCCACTTGGGGTACACCCCTTATAAAT
GAAGTGGTGGCCTGCAATCAGTCTTATTGGTTGCAGAAAGCAACCAATCAGAGGCTGAAGTGAAGTTACAAATATCACACTCCTATGCAAACATCTGATT
GGTTGCAAAAAGCAAAACCACTCAGAGGTACTTTCAATTTCCCATCTGCCCTGCAGAAAAGGTAAGGGGTTGCAAAAGAGTAGCCCCTCCTCCTTTTGTT
ACTTAGGCGTGGAAAGTTAAGGGTTTCCTTTCAGTTTGGTTCTAAGAAGTCAGAGTGAAATGGCTTTAGATTCCCTGCCTGCAGATTCTATTCCCCAGCC
TCACTTTGAGAAGCACCTGGACACTTCGCTCTAGGCACGTGTCTTCTTCAAGCTGCCATCCATTATGCATAGTACAGGAGCTCAGAAAAGTCACCCGTGG
GTTCCTTTCTAGCTCAATCATGCTGAGAGTCCAGTCCATTTATAACATAATTCATAAAGGAACATTCTATTTAGTTCTCAGAACTCTGTGGCAGGGGACT
GTTGTTATTCCTCCTTTACAGAGGTGGGTCTGAAGGTACAGAGTGGATAAGTCATTTTCTCCGGGCCAGCCACACAGCGAATGAATGGAGATTCCTTGTG
TGTAGTAAATGGCTGCAGCCCTATAAGCTATAATCATATATCATCAACACCTTTACCCTGTTATTAACGTGTCTGAAATTAGGGAACACCACGTACAAAA
GGGATCAGGGTCCACCTTTCTGAAGAAAACTGCAGAGCTTTTGCAGTTATTAAACTAGCAACAGATGTAAAGTCCAACTGTTAGAGTTTTTCTTTAAAGC
AGAAGTTAGCAATTACAGGTGCTTGTGATGTCATCACTTAGATGATCTTATAAATGCCTTTTTTTTTTTTTTTTTTTTTTTTAGTCGGAGTCTCACTCTG
TCGCCAGGCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCGTCCTGAGTAGCTGGGAC
AAGAGGAGCACACCACTGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGATGGTCTTCTTCTCTTGACCTTGTGA
TCTGCCTGCCCCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGGCCTGGCCATAAATGTCTTTTCTGGGTGGGGCATGGTCACTGGAAATGT
AAACCCTCCCTTCCCCAGGTCAGCCTGCCTCCCAGGTGTTGGTGCTATGATTACAGTGACCACATAATTTATCATCCACACTGGCACCTTTTTGAGAGAG
GATGGGGAGCAGGTAATTATGCTGGGACAATAGGCGTATGTCAAGATATCTGGTCACCCTATCTATGATCTGTCACACTTAGTACTTTCTAAAATTCTCG
GGCCTTTGCACCTTCTTTTTATCAACGCTTAGTTCTATGTTACTGAATATTTCTTAATTAAGTGCAGGAAAGAAAATAACCATTTTTTCTCCTTTTAAAG
AAGCACACACACCTTTCTTTTATTGGTATTACATTCCTTTTCCCTGTTGGTGCCCCTGTTGGTTTTCCAAATTGTCTTCCCATCCTTGTCCTACCTCCCA
ATAGAGTACCTCATCCTATAGTGTTATTATAACTACAGAAAATATATTTTCATTCCTTCCACTTCATGCTTTCAGCTAGAAATGTGAGTCTCTGAGACTT
GTATTCTTGGGGTCACTTAAAACATACTGCATAATGAGGCCTTCAATGACTCTGATTTGGAACTGACCCTCTATGAGGGGTTATACCCCTGGACACCAAG
CTGCTGGCCTGAGCATGAGGTTGATGGCCAATCTCAGGAGAGGAGGAGGAAGAGGAGGAGGCGGAGAAGAAAATTGCGTGCTAATTTCAGTTGTATATTG
AGCCCACACATATTTACTTCCAATATGAAGCAAATCTAAGAAAAATTCTGCTTTAAAGAAAGAAATGTAAATCAAGTGACTGTTGATGGACGCTTGGAAG
AATTCTTATTTATTTATTTTTTTGGACAGGCTTTCACTCTGTCAGCCAGGCTGGAGTGCAAGTGGCCCAATCATGGCTTACTGCAGACTCAACCTCCTGG
GTGCAAGTAATCCTCCCACCTCAGCCTCCTGTGTAGTGGAGACCATAGGCATGTTCCACCACACCTAGTTAATTTTTTATTTTTTGTAGAAATGGGGTCT
CACCATATTGACCAGGCCGGACTCAAACTCCGAGATGCACGTGAATCTCCAGCTGTGGCCCCTTCCAAAGTGCTGGGATTAGATGCATGAGCCACCTGGC
CCAGCCAGAATCCTTCCATTAATAAAAGGATGGACCATGAACTCCCTTTTATGATATGAGCCGATCAAATGTGAGCAGAATAGTATCCTATTTATACAAT
GTAGTTTAAAACCAACTTCTTAGAACCATGAGCTAAGGGGGAATCTGGATTTCAAATGCTAGTTGCATCAAACACGTTTCCACCCCCTCAAAACGTGGCC
CAAAGTCATTAGTGTCGGAGCACCCAGCCATCCTTGGCTCCTTCCCACCTATGTTGATTAATTAAAGGACCCAAGAGCTAAAAGGGAGAAGTAGCTGCAT
GCTTGCCACTTAGTAATATTTTGATAAGTATTTTTGGGATGAATGCAATGACGCATGAATGAATGAATGAATGAATAACATAGGCTACAGTATTTTGTCT
TCTTGGTTAGGGACCTTGAGTAAACTGAGGAGTCTGAGGGGAATGCCATGGAAGTCTGTAAACCCAAAATCCTCAGCGAAACCTCAGCCATCTAGGGACA
TCTGGGGCAGCAGAGAGCCACTGGTGTGGTGAGTTATCTCCCTGGGCCTTGAGATAGCCATGCTGTTTTGTCTCCACAAGGAAGAAGTAGGAGGCATAGC
CCAAGGCAGCTTGAGAGGAAAGCCTCTTGGCCTTGAATAAGATGACTTTGTTACTGGGCAAAGAAAGCCCGGCTGGAAGTGCTCTTTGATATGCAAATAT
AGCCTGATAAGGATTTCCTCTCCTTCCTACTTTCCCTCCCCAACCCTCCCCCAAGCTAAAATTCTCTTCCCAGGAGCCCTGTCATCAGCAGGGAGTTTTC
TGTCTTTGTCCCCATCTCTTCACTTGTGCTGTGCAAAATCAGGCCACGATTGCAGGGTAGTCCACGGCTTCCAAAGAGAACTGCATAAATATACATCTTT
CAGGGGAAGAGGGAGAACCTGGAGAAGTCAGGAGAGCAAAACCATGCCAGTCAGCTTCAGTGATGATAAAGGTTACTGTTGGATGAAAGTTTGCATTTTG
TTGTGGTGTGGGAAGGACCTTATCCTGTCAGCTCTATGGATGTGCCCAGTTTAAGCTCTGAAAGTTCCTTTAACTTGAAATTGTTTTTGATCATGTGACA
AGGTCTTCTGACCCTTTATCACCCACAGTGTTTTATTCATTTGCTCTAAACCAGCAGTAGGTGAAGTTAGGAATAATATGTCAAGCTTCCTAACTCCATG
GTGCTCTCATTGTTGTGTGTGTGTGTCTGTGAATAAACACGGAAATAATTACGCAAATAAGCTATTGGCAGGTGGTGATAACGTAACCGCCCAATGGGTT
CATTCTGCCTGATGCCCAGATAAAGCCGATTTATCTAGACAGGGGAATTGCAATAGGGAAAGAGTTTAATGTTGGTAGAGCCAGCTAAACGGGAGACTGG
AGCTTTATTGTTACTCAAATCAGCTTTCCTGAAAATTCAGAGACTGGGGTTTTTTTAAGGATAGTTTTGTGGACAAGAGAATGGGTACTGCTGATGGGCT
GTGGATGCAATCATAGGGGTGTGTAAAACCCTTGTGCCCTGAATCCGCTTCTGGGTGGGGGGCAGGGCACAGGACCAGTTGAATGGGGATGGGGCTACCA
GTCCTCAAAAATGCAAAAGCCGGAAAAGACATTTCAGAAGGCCAACCTTAGGTTCTACAAAGTGATGTTATCTGCAGGAATAATTGGGGAAATTGCAAAT
CTTGTAACCTCTGGAATAATGGCTGCTAATCGTTTATGTCCACTCTTTAGCAGAATTCAGGCTCCTGTCCTCCTCCTAACTTGGTGGTCTTTTGCTAGCT
TTACAAAGGCAGTTTAGTTTGGGGGTAGGGCCATTATCATTTAAATTAAGTACTAAATATCCCCCCAAAGTTAGCTTGGCCCAAGCCCAGGAATGACTAA
GGGCGGTCTGAAGGTTAAAGGCAAGATGGGGCTAGGTTAGATCAGATCTCTTTCACGGTCATAATTTTCTTACTCTTACAATTTTTGCAAAGGCAGTTTT
AATAACTGCTATTTAGCAAAGACAGTTGGGTAAGTTACTAGAGGGAGTATTACCTTAGATGGGGCCAGGAGGGTTTCTCTGAGGAGATCCCATTTCAACA
GATCTAGAAATGTAATGGAGCCAGTCCTAGGGAAACAGGACTACCAGGAATCCTCACCAGCCCCGCAAAGACGAGGGAGCAGCAAGTTCCAAAGCCCGTG
GCATGTCAAGGGTCGATGAATTCACCAACTGCAAGGGGCTTTGGTGACCCCAGTGAACAGATGAGAAAGGGGAGGAGGCTGGGATCAGTGCACAGCTTTG
CAGGCTTTGGGAAGGAATTTCGAGTTTATCTCATTTGTCCAGGTATTTGGATGAAGCCCTGGCATACTAACCCTATGAAAGTTTATAGTTCCCAAATTGC
AGGATAACAAGGCTCTGTAATCTTCATTTCCTCAAAGTTTTACACCAGGATTCTATGGCCAAGTGTGTGGCAGTGTCACAACTTAAGAGCCAGTGTAATT
GCCCAACGGGTTCTCCTTGCCCGCTGCCTAAGCAAAGCCGATTTATCAAGACAGGGGGATTGCCATAAAGAAAGAGTTTAGGTCCAGGCACGGTGGCTCA
TGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGGTGGTTCAACTGAGGTCAGGAGTTTGAGACCATCCTGGCCAAGGTGGTGAAACCCCATCCCTAC
TAAAGATACTAATATTAGCCAGGCGTAGTGGTAGGCGCCTGTAATCCTAGCTAGTCGGGAGGCAGAGGCAGGAGAACTGCTTGAACCTGGGAGGCAGAGG
CTGCAGTGAGTCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAAACTCTGTCTCGG


Protein Sequence     (SEQ ID NO:509):
DDFVTGQRKPGWKCSLICKYSLIRISSPSYFPSPTLPQAKILFPGALSSAGSFLSLSPSLHLCCAKSGHDCRVVHGFQRELHKYTSFRGRGRTWRSQESK
TMPVSFSDDKGYCWMKVCILLWCGKDLILSALWMCPV*



SNP Information


Context              (SEQ ID NO:4856):
ATGGCTAAACCATTAGGCCGGCTCTGCAGGGAGGGCAAGACCACAGCAGCTCAGTATTTCCTGCTCAGGGAAAAAGGCCAGGTCTTTTGTTGGTGGAAAT
S
CACTTTTCCATCCACTGTCTTCTAAGAATGAAAGTAAATCTGTTGTGCTTTCCTCTGCCCTGTCCTCAGGCTTAGCCTTAGTGGGCCTGGTTTTTGCCCC
Celera SNP ID:                hCV1445060
SNP Position Transcript:      926
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,6|G,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4857):
TTTCCCTCCCCAACCCTCCCCCAAGCTAAAATTCTCTTCCCAGGAGCCCTGTCATCAGCAGGGAGTTTTCTGTCTTTGTCCCCATCTCTTCACTTGTGCT
S
TGCAAAATCAGGCCACGATTGCAGGGTAGTCCACGGCTTCCAAAGAGAACTGCATAAATATACATCTTTCAGGGGAAGAGGGAGAACCTGGAGAAGTCAG
Celera SNP ID:                hDV70661779
SNP Position Transcript:      4531
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:509, 64,(C,TGT) (S,TCT)



Context              (SEQ ID NO:4858):
CAGGGGACTGTTGTTATTCCTCCTTTACAGAGGTGGGTCTGAAGGTACAGAGTGGATAAGTCATTTTCTCCGGGCCAGCCACACAGCGAATGAATGGAGA
Y
TCCTTGTGTGTAGTAAATGGCTGCAGCCCTATAAGCTATAATCATATATCATCAACACCTTTACCCTGTTATTAACGTGTCTGAAATTAGGGAACACCAC
Celera SNP ID:                hCV8902044
SNP Position Transcript:      1992
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,120|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4859):
GTACAATCCAAGTCTGTC
R
CTGCCCAGGATAGAGGAGGGATGACGTGAATTCACACGGGCCTCTCCTACAAATCTGAGTGTACATCAAGTGAGGGGCGTCCCTCCGCACCTCACTGTTG
Celera SNP ID:                hCV31816036
SNP Position Transcript:      19
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4860):
GAAAGAAATGTAAATCAAGTGACTGTTGATGGACGCTTGGAAGAATTCTTATTTATTTATTTTTTTGGACAGGCTTTCACTCTGTCAGCCAGGCTGGAGT
K
CAAGTGGCCCAATCATGGCTTACTGCAGACTCAACCTCCTGGGTGCAAGTAATCCTCCCACCTCAGCCTCCTGTGTAGTGGAGACCATAGGCATGTTCCA
Celera SNP ID:                hCV30123512
SNP Position Transcript:      3458
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4861):
TTCCCCCGTGACTGCTGCGGGGGCCTAGGCCAAAGATATGCCCGAGTAGAAAATCTGACACCAGCTTCCCAGTTTTCTCTTCTGCTCTCTTTGGCTGCAA
S
GCTTTTACCATGGCTAAACCATTAGGCCGGCTCTGCAGGGAGGGCAAGACCACAGCAGCTCAGTATTTCCTGCTCAGGGAAAAAGGCCAGGTCTTTTGTT
Celera SNP ID:                hCV1445058
SNP Position Transcript:      816
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,5|G,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4862):
CTGCGGGGGCCTAGGCCAAAGATATGCCCGAGTAGAAAATCTGACACCAGCTTCCCAGTTTTCTCTTCTGCTCTCTTTGGCTGCAACGCTTTTACCATGG
S
TAAACCATTAGGCCGGCTCTGCAGGGAGGGCAAGACCACAGCAGCTCAGTATTTCCTGCTCAGGGAAAAAGGCCAGGTCTTTTGTTGGTGGAAATCCACT
Celera SNP ID:                hCV11438505
SNP Position Transcript:      830
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,70|G,4) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4863):
TGCGGGGGCCTAGGCCAAAGATATGCCCGAGTAGAAAATCTGACACCAGCTTCCCAGTTTTCTCTTCTGCTCTCTTTGGCTGCAACGCTTTTACCATGGC
Y
AAACCATTAGGCCGGCTCTGCAGGGAGGGCAAGACCACAGCAGCTCAGTATTTCCTGCTCAGGGAAAAAGGCCAGGTCTTTTGTTGGTGGAAATCCACTT
Celera SNP ID:                hCV1445059
SNP Position Transcript:      831
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,6|C,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4864):
TACTTTCTAAAATTCTCGGGCCTTTGCACCTTCTTTTTATCAACGCTTAGTTCTATGTTACTGAATATTTCTTAATTAAGTGCAGGAAAGAAAATAACCA
Y
TTTTTCTCCTTTTAAAGAAGCACACACACCTTTCTTTTATTGGTATTACATTCCTTTTCCCTGTTGGTGCCCCTGTTGGTTTTCCAAATTGTCTTCCCAT
Celera SNP ID:                hCV11667757
SNP Position Transcript:      2883
SNP Source:                   dbSNP; Celera; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,3|C,3) ; no_pop(T,116|C,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4865):
TTATAACTACAGAAAATATATTTTCATTCCTTCCACTTCATGCTTTCAGCTAGAAATGTGAGTCTCTGAGACTTGTATTCTTGGGGTCACTTAAAACATA
Y
TGCATAATGAGGCCTTCAATGACTCTGATTTGGAACTGACCCTCTATGAGGGGTTATACCCCTGGACACCAAGCTGCTGGCCTGAGCATGAGGTTGATGG
Celera SNP ID:                hCV1445062
SNP Position Transcript:      3127
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,5)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4866):
TCTCCTTTTAAAGAAGCACACACACCTTTCTTTTATTGGTATTACATTCCTTTTCCCTGTTGGTGCCCCTGTTGGTTTTCCAAATTGTCTTCCCATCCTT
R
TCCTACCTCCCAATAGAGTACCTCATCCTATAGTGTTATTATAACTACAGAAAATATATTTTCATTCCTTCCACTTCATGCTTTCAGCTAGAAATGTGAG
Celera SNP ID:                hCV29301760
SNP Position Transcript:      2988
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4867):
TCCTCTGCCCTGTCCTCAGGCTTAGCCTTAGTGGGCCTGGTTTTTGCCCCCCTCCAGTTTTAGCTTCCCATCTAAAATACAAGGGAAAAGACAGCAAGGA
S
AGGACACTTCCTCCTAGTGTCTTGTAAAGCTGCAAGGGAGTCGCGGCTGAGTCGAGGATCCACATTCCTGGATGAGTCCTTTTGTTACCAGCGGAGGGTG
Celera SNP ID:                hCV30393792
SNP Position Transcript:      1077
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4868):
GACAGCATCTACATCCACCTCTGCAGGAAGCAAGGGAAACATTTTTCTTCTGGAGAATCGGGCAGCCTGCAGCTGATCCGGTGGTGTCTGAAACCATCCT
K
TGTGCTGTAGTGTCAACAACTTAGCCTGGTTACTTTGCCACCAAACCCCACCAAATGCCTTTGTATCTTTTTCAGAACTGCATCTCTGCAGCATAATTGA
Celera SNP ID:                hDV70757073
SNP Position Transcript:      395
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4869):
TTATTGAAAGCAAAACTACACTCCATAGAGTGGGAACGGCCCAAGCAGCCACTCAGGGGCCCTGGATAGAGAATCTTCTGGAGTCTAAATACTCCCTAGA
K
GTTTCCCATTGGCCACTTGGGGTACACCCCTTATAAATGAAGTGGTGGCCTGCAATCAGTCTTATTGGTTGCAGAAAGCAACCAATCAGAGGCTGAAGTG
Celera SNP ID:                hCV29301763
SNP Position Transcript:      1362
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4870):
AGTGACCACATAATTTATCATCCACACTGGCACCTTTTTGAGAGAGGATGGGGAGCAGGTAATTATGCTGGGACAATAGGCGTATGTCAAGATATCTGGT
Y
ACCCTATCTATGATCTGTCACACTTAGTACTTTCTAAAATTCTCGGGCCTTTGCACCTTCTTTTTATCAACGCTTAGTTCTATGTTACTGAATATTTCTT
Celera SNP ID:                hCV31816033
SNP Position Transcript:      2755
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4871):
TAATTTTTTATTTTTTGTAGAAATGGGGTCTCACCATATTGACCAGGCCGGACTCAAACTCCGAGATGCACGTGAATCTCCAGCTGTGGCCCCTTCCAAA
R
TGCTGGGATTAGATGCATGAGCCACCTGGCCCAGCCAGAATCCTTCCATTAATAAAAGGATGGACCATGAACTCCCTTTTATGATATGAGCCGATCAAAT
Celera SNP ID:                hCV31816031
SNP Position Transcript:      3670
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4872):
GCATAGCCCAAGGCAGCTTGAGAGGAAAGCCTCTTGGCCTTGAATAAGATGACTTTGTTACTGGGCAAAGAAAGCCCGGCTGGAAGTGCTCTTTGATATG
S
AAATATAGCCTGATAAGGATTTCCTCTCCTTCCTACTTTCCCTCCCCAACCCTCCCCCAAGCTAAAATTCTCTTCCCAGGAGCCCTGTCATCAGCAGGGA
Celera SNP ID:                hDV70661778
SNP Position Transcript:      4394
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:509, 18,(C,TGC) (W,TGG)



Context              (SEQ ID NO:4873):
CCACCTTTCTGAAGAAAACTGCAGAGCTTTTGCAGTTATTAAACTAGCAACAGATGTAAAGTCCAACTGTTAGAGTTTTTCTTTAAAGCAGAAGTTAGCA
R
TTACAGGTGCTTGTGATGTCATCACTTAGATGATCTTATAAATGCCTTTTTTTTTTTTTTTTTTTTTTTTAGTCGGAGTCTCACTCTGTCGCCAGGCTGG
Celera SNP ID:                hCV8902045
SNP Position Transcript:      2212
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4874):
CGTCCCTCCGCACCTCACTGTTGGGCTGATCAATCCCATTCCCACTCCATTATGTGTGTATTTCTAAGTGGCAGATTTGCCTTAGGAAATGGAAGAAGGG
S
ATGAAATAGTGACCAACACAAATTACTGGGTTGGCGGGAGTTGAGAGCTGGCAAAATCGTCTTGGAGAAGGAAATGGTGCAGATTTCAGAGCTGGCAGAC
Celera SNP ID:                hCV11438508
SNP Position Transcript:      197
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,69|C,23) ; no_pop(G,3|C,1) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4875):
GCATGAGCCACCTGGCCCAGCCAGAATCCTTCCATTAATAAAAGGATGGACCATGAACTCCCTTTTATGATATGAGCCGATCAAATGTGAGCAGAATAGT
R
TCCTATTTATACAATGTAGTTTAAAACCAACTTCTTAGAACCATGAGCTAAGGGGGAATCTGGATTTCAAATGCTAGTTGCATCAAACACGTTTCCACCC
Celera SNP ID:                hDV70757081
SNP Position Transcript:      3785
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4876):
CTAAATACTCCCTAGAGGTTTCCCATTGGCCACTTGGGGTACACCCCTTATAAATGAAGTGGTGGCCTGCAATCAGTCTTATTGGTTGCAGAAAGCAACC
R
ATCAGAGGCTGAAGTGAAGTTACAAATATCACACTCCTATGCAAACATCTGATTGGTTGCAAAAAGCAAAACCACTCAGAGGTACTTTCAATTTCCCATC
Celera SNP ID:                hCV1445061
SNP Position Transcript:      1446
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,8|G,4)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4877):
AACCCTCCCTTCCCCAGGTCAGCCTGCCTCCCAGGTGTTGGTGCTATGATTACAGTGACCACATAATTTATCATCCACACTGGCACCTTTTTGAGAGAGG
W
TGGGGAGCAGGTAATTATGCTGGGACAATAGGCGTATGTCAAGATATCTGGTCACCCTATCTATGATCTGTCACACTTAGTACTTTCTAAAATTCTCGGG
Celera SNP ID:                hCV29582205
SNP Position Transcript:      2702
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4878):
GAATATTTCTTAATTAAGTGCAGGAAAGAAAATAACCATTTTTTCTCCTTTTAAAGAAGCACACACACCTTTCTTTTATTGGTATTACATTCCTTTTCCC
W
GTTGGTGCCCCTGTTGGTTTTCCAAATTGTCTTCCCATCCTTGTCCTACCTCCCAATAGAGTACCTCATCCTATAGTGTTATTATAACTACAGAAAATAT
Celera SNP ID:                hCV29301761
SNP Position Transcript:      2945
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4879):
AAAGCAAAACCACTCAGAGGTACTTTCAATTTCCCATCTGCCCTGCAGAAAAGGTAAGGGGTTGCAAAAGAGTAGCCCCTCCTCCTTTTGTTACTTAGGC
R
TGGAAAGTTAAGGGTTTCCTTTCAGTTTGGTTCTAAGAAGTCAGAGTGAAATGGCTTTAGATTCCCTGCCTGCAGATTCTATTCCCCAGCCTCACTTTGA
Celera SNP ID:                hCV31816034
SNP Position Transcript:      1609
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4880):
ATAGAGAATCTTCTGGAGTCTAAATACTCCCTAGAGGTTTCCCATTGGCCACTTGGGGTACACCCCTTATAAATGAAGTGGTGGCCTGCAATCAGTCTTA
Y
TGGTTGCAGAAAGCAACCAATCAGAGGCTGAAGTGAAGTTACAAATATCACACTCCTATGCAAACATCTGATTGGTTGCAAAAAGCAAAACCACTCAGAG
Celera SNP ID:                hCV27895419
SNP Position Transcript:      1427
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4881):
TCCATTAATAAAAGGATGGACCATGAACTCCCTTTTATGATATGAGCCGATCAAATGTGAGCAGAATAGTATCCTATTTATACAATGTAGTTTAAAACCA
R
CTTCTTAGAACCATGAGCTAAGGGGGAATCTGGATTTCAAATGCTAGTTGCATCAAACACGTTTCCACCCCCTCAAAACGTGGCCCAAAGTCATTAGTGT
Celera SNP ID:                hCV27978445
SNP Position Transcript:      3815
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4882):
AACTACAGAAAATATATTTTCATTCCTTCCACTTCATGCTTTCAGCTAGAAATGTGAGTCTCTGAGACTTGTATTCTTGGGGTCACTTAAAACATACTGC
R
TAATGAGGCCTTCAATGACTCTGATTTGGAACTGACCCTCTATGAGGGGTTATACCCCTGGACACCAAGCTGCTGGCCTGAGCATGAGGTTGATGGCCAA
Celera SNP ID:                hDV71050942
SNP Position Transcript:      3131
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4883):
TGTGTAGTAAATGGCTGCAGCCCTATAAGCTATAATCATATATCATCAACACCTTTACCCTGTTATTAACGTGTCTGAAATTAGGGAACACCACGTACAA
S
AGGGATCAGGGTCCACCTTTCTGAAGAAAACTGCAGAGCTTTTGCAGTTATTAAACTAGCAACAGATGTAAAGTCCAACTGTTAGAGTTTTTCTTTAAAG
Celera SNP ID:                hDV71050994
SNP Position Transcript:      2099
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4884):
TCCCAGGGTAAAGAGTCACCGCTGATTAATTACCTCAAGGACAAGGGGACGGTGACTTTTTCTCTTGTATCCAGCAGCGCCACGCGGGGCGGGCGGGAGA
S
GCAAGGCTAAGAGGTGGATGAAAGGCTAGGGTTAAGGCATTTCACAATGTCAGGCATCTTGTTAGACTGCGGCTTTCCAGGCCTTCCCCCGTGACTGCTG
Celera SNP ID:                hCV11438506
SNP Position Transcript:      632
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4885):
ATGACGTGAATTCACACGGGCCTCTCCTACAAATCTGAGTGTACATCAAGTGAGGGGCGTCCCTCCGCACCTCACTGTTGGGCTGATCAATCCCATTCCC
M
CTCCATTATGTGTGTATTTCTAAGTGGCAGATTTGCCTTAGGAAATGGAAGAAGGGGATGAAATAGTGACCAACACAAATTACTGGGTTGGCGGGAGTTG
Celera SNP ID:                hCV26982043
SNP Position Transcript:      140
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,3|C,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4886):
ACAATAGGCGTATGTCAAGATATCTGGTCACCCTATCTATGATCTGTCACACTTAGTACTTTCTAAAATTCTCGGGCCTTTGCACCTTCTTTTTATCAAC
R
CTTAGTTCTATGTTACTGAATATTTCTTAATTAAGTGCAGGAAAGAAAATAACCATTTTTTCTCCTTTTAAAGAAGCACACACACCTTTCTTTTATTGGT
Celera SNP ID:                hCV29301762
SNP Position Transcript:      2827
SNP Source:                   dbSNP; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,120|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4887):
TGTTGATTAATTAAAGGACCCAAGAGCTAAAAGGGAGAAGTAGCTGCATGCTTGCCACTTAGTAATATTTTGATAAGTATTTTTGGGATGAATGCAATGA
Y
GCATGAATGAATGAATGAATGAATAACATAGGCTACAGTATTTTGTCTTCTTGGTTAGGGACCTTGAGTAAACTGAGGAGTCTGAGGGGAATGCCATGGA
Celera SNP ID:                hCV29744826
SNP Position Transcript:      4052
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4888):
TTGATTAATTAAAGGACCCAAGAGCTAAAAGGGAGAAGTAGCTGCATGCTTGCCACTTAGTAATATTTTGATAAGTATTTTTGGGATGAATGCAATGACG
S
ATGAATGAATGAATGAATGAATAACATAGGCTACAGTATTTTGTCTTCTTGGTTAGGGACCTTGAGTAAACTGAGGAGTCTGAGGGGAATGCCATGGAAG
Celera SNP ID:                hCV30087505
SNP Position Transcript:      4054
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4889):
CTTGAAATTGTTTTTGATCATGTGACAAGGTCTTCTGACCCTTTATCACCCACAGTGTTTTATTCATTTGCTCTAAACCAGCAGTAGGTGAAGTTAGGAA
Y
AATATGTCAAGCTTCCTAACTCCATGGTGCTCTCATTGTTGTGTGTGTGTGTCTGTGAATAAACACGGAAATAATTACGCAAATAAGCTATTGGCAGGTG
Celera SNP ID:                hCV26982041
SNP Position Transcript:      4874
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,3|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4890):
GCCAGGAGGGTTTCTCTGAGGAGATCCCATTTCAACAGATCTAGAAATGTAATGGAGCCAGTCCTAGGGAAACAGGACTACCAGGAATCCTCACCAGCCC
S
GCAAAGACGAGGGAGCAGCAAGTTCCAAAGCCCGTGGCATGTCAAGGGTCGATGAATTCACCAACTGCAAGGGGCTTTGGTGACCCCAGTGAACAGATGA
Celera SNP ID:                hCV8902046
SNP Position Transcript:      5864
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,8|G,1) ; no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4891):
ACAGATCTAGAAATGTAATGGAGCCAGTCCTAGGGAAACAGGACTACCAGGAATCCTCACCAGCCCCGCAAAGACGAGGGAGCAGCAAGTTCCAAAGCCC
R
TGGCATGTCAAGGGTCGATGAATTCACCAACTGCAAGGGGCTTTGGTGACCCCAGTGAACAGATGAGAAAGGGGAGGAGGCTGGGATCAGTGCACAGCTT
Celera SNP ID:                hCV8902051
SNP Position Transcript:      5898
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,-|A,-) ; no_pop(G,33|A,87)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4892):
AGGAGGCTGGGATCAGTGCACAGCTTTGCAGGCTTTGGGAAGGAATTTCGAGTTTATCTCATTTGTCCAGGTATTTGGATGAAGCCCTGGCATACTAACC
S
TATGAAAGTTTATAGTTCCCAAATTGCAGGATAACAAGGCTCTGTAATCTTCATTTCCTCAAAGTTTTACACCAGGATTCTATGGCCAAGTGTGTGGCAG
Celera SNP ID:                hCV31816030
SNP Position Transcript:      6073
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4893):
AGACAGGGGGATTGCCATAAAGAAAGAGTTTAGGTCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGGTGGTTCAACTG
M
GGTCAGGAGTTTGAGACCATCCTGGCCAAGGTGGTGAAACCCCATCCCTACTAAAGATACTAATATTAGCCAGGCGTAGTGGTAGGCGCCTGTAATCCTA
Celera SNP ID:                hCV26982040
SNP Position Transcript:      6349
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|C,-) ; no_pop(A,6|C,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Context              (SEQ ID NO:4894):
AGCTAGTCGGGAGGCAGAGGCAGGAGAACTGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGTCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGA
S
TGAAACTCTGTCTCGG
Celera SNP ID:                hCV31816029
SNP Position Transcript:      6549
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:509, None



Gene Number:                  102
Celera Gene:                  hCG2038269 - 208000027038624
Celera Transcript:            hCT2342695 - 208000027038625
Public Transcript Accession:
Celera Protein:               hCP1908448 - 348067885
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W3V0(8993177..9007497)
Chromosome:                   16
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:249):
CTAGGAAGAAATCTTTAATTTCTATTCAGCTTTAAAGAGTTTGAGAGCGTTTTTTCCCCTCTGTTAACAAACGAGTTCAAGTACATGCCTTCATATTATA
AAAGTACCTGAAATTGCCTAGAATAGCAGCATGCATAAATGCAAACTTTGAAAAAGACATACCTTTGTAACTTTCTATGCTAAGGTGTTGCATAATCAAG
GTTAATTTTTGTTTGTTTCTAGTCTATGGGCATCAAGTGCTTTAAAATGCTCACTAACACCGAGGCAGAATTATTTACCCGGGCAATTAAAGCAACAGCA
CACACGATCATTTCCTACTAACTAGCAACACGCTGCTGGTGAATGAAATATCTATTGTTTCTCATTACCCATCGACCACTGTGAAGAGATCTCTCTGTGT
AAAGGCAGTGCCTAAGCTATCACCATTAATTATGGAAGTAATATAAATGAGACACTCTCCACAGTATGTTCTAAATGAAATATTAACAAGGCCAGCGTCT
TGGAACCTGAGAAATGGTCTGTTCCAGTGAGCTCTGTATGGAAATCCACACACCTAACTCAGACATGCCCGATTTGAAATAGCGGGGCTGGACATTGGGG
GCCTACCTGTGAGATCTGAATTATTGCAAAGTACATCCTCTTAATTTGTTTCTGGAAGGCAGAGTTAAGAGTTAATTCCTTCCCATGATGTGGCCCCAGC
GGAGACCTTGTGTTTTTTTTTTTTTTTTTCTTCAGTGCTTTTTCAGGACTATGTTATAGAATACTTATGGGGCATACGTGTAAATGAACTGTCAACCTTA
AAATCTAAACAAACAGCTTGTTTGTGGTTCGTCCTGAAATCCTCCCTGCTCACAAAACAGCCAGCTACTTGGTTTTCTAAAAGACGTAATTTTGCAGGCA
GACTTCGTAGAGCCATTCTGTGCAGAAGAAGGGAAGGGAGAAGCTGTTTGTTTTACCTGTAGTATGAAGATATTCTTTGCGCTGTTAGAACTGAGCTCAT
TAATTCTGCCTGGCAATAATTTCAAAGGTTTATTTTGGTGTAGATGGCGAATACAGATGCATACATTTATACGCAGTACACGAGCTAGCTATAACCATAA
CAGAGGTTAAAGAAGTAGAGTAAAAATGTAAAATGTTTCAAATAAACACACACTAAATATCTTCTTTTATATCTTATAAACACCCAGCAGTCCTTTAGCA
CGGGCATCAAGGTGGCCCAGTTGGAAAATTTCAGTGACATGCCATCAGATTTGTTCCATGTAGAAGGACGACACTATCAGTTAGATGCTTATTTTGTTGG
CAAATTTCTATGGCACTTCTGCTTGGCTATTTCAAACCAACCATGGAAGAATAGATACCCCAATGCGATGTTTCATCCCTATTCATAAAGAAACTGTACT
TTGAGCAATGTAGGTATCCCAGGCAGCATCAGAGGGAATGCCCAGGGAATTCTTCCATGGATATAAGACATCATCAACAATACCTTCTCTTAGTTCTAAT
GAGACAGCCTCTCAGGTCCGGTCAGTTCTAGAACGCTTTGGGCAGGCACAAATGGAAGATGGAACAAGTGTGCATGTAATGACCCACATGGATTGCCTTG
AAGCCGTTTCTTTTTCCTTCCCTCGTTAGGAGTACCCTCACCCTAACCCCAGCAAAGCATGTCTAGGGTCTCACAATAATAGCAGGTCTCAGAAAGATAA
AATAATTCTGAATGTTACAACTCGTCCCATTTAAGGCTAGACATAAATCTATCACAGATCCTTTGGAACATCGATGGCAAGAATTCTGGAACACGAAGGA
GGTATGAAAAGGGCTTCACTCGTTTCATGGAAAAGCTCAGAACAGTTTGTCGACTTGGAAACACAGGCCCTGACAGCGTACCAAGGTCACCCTGCCCTTC
AATCCTGCTGATAGCCCAAGTTAACATCCTCCCATGCCTTGGCCTTCCCAGAACAAACATGGCTTTGGACGCCTTTGGGTGGTTGGGACTGGCTGCCTAT
TTTTCTCTAAAACTTAAGTTTTAGGAAAGAATTCTTTCCAGCTTTCCATCCTGAACCTGCTGGTCTCCAGGCTCGTTCCTGCAAATATTTCACAGAGGAG
TAAGAGCCACATTCTTGCTGGCTTTCCAATTCATTCTCCTCTCTTCGAGTCCACCTCTT


Protein Sequence     (SEQ ID NO:510):
NNSECYNSSHLRLDINLSQILWNIDGKNSGTRRRYEKGFTRFMEKLRTVCRLGNTGPDSVPRSPCPSILLIAQVNILPCLGLPRTNMALDAFGWLGLAAY
FSLKLKF*



SNP Information


Context              (SEQ ID NO:4895):
TTCAGTGACATGCCATCAGATTTGTTCCATGTAGAAGGACGACACTATCAGTTAGATGCTTATTTTGTTGGCAAATTTCTATGGCACTTCTGCTTGGCTA
Y
TTCAAACCAACCATGGAAGAATAGATACCCCAATGCGATGTTTCATCCCTATTCATAAAGAAACTGTACTTTGAGCAATGTAGGTATCCCAGGCAGCATC
Celera SNP ID:                hCV1565877
SNP Position Transcript:      1330
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4896):
TCTATTGTTTCTCATTACCCATCGACCACTGTGAAGAGATCTCTCTGTGTAAAGGCAGTGCCTAAGCTATCACCATTAATTATGGAAGTAATATAAATGA
S
ACACTCTCCACAGTATGTTCTAAATGAAATATTAACAAGGCCAGCGTCTTGGAACCTGAGAAATGGTCTGTTCCAGTGAGCTCTGTATGGAAATCCACAC
Celera SNP ID:                hCV29798874
SNP Position Transcript:      451
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4897):
TGACCCACATGGATTGCCTTGAAGCCGTTTCTTTTTCCTTCCCTCGTTAGGAGTACCCTCACCCTAACCCCAGCAAAGCATGTCTAGGGTCTCACAATAA
Y
AGCAGGTCTCAGAAAGATAAAATAATTCTGAATGTTACAACTCGTCCCATTTAAGGCTAGACATAAATCTATCACAGATCCTTTGGAACATCGATGGCAA
Celera SNP ID:                hCV2851413
SNP Position Transcript:      1680
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,3|C,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4898):
CTAGGAAGAAATCTTTAATTTCTATTCAGCTTTAAAGAGTTTGAGAGCGTTTTTTCCCCTCTGTTAACAAACGA
S
TTCAAGTACATGCCTTCATATTATAAAAGTACCTGAAATTGCCTAGAATAGCAGCATGCATAAATGCAAACTTTGAAAAAGACATACCTTTGTAACTTTC
Celera SNP ID:                hCV8902366
SNP Position Transcript:      75
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4899):
ATTCTGGAACACGAAGGAGGTATGAAAAGGGCTTCACTCGTTTCATGGAAAAGCTCAGAACAGTTTGTCGACTTGGAAACACAGGCCCTGACAGCGTACC
M
AGGTCACCCTGCCCTTCAATCCTGCTGATAGCCCAAGTTAACATCCTCCCATGCCTTGGCCTTCCCAGAACAAACATGGCTTTGGACGCCTTTGGGTGGT
Celera SNP ID:                hCV2851410
SNP Position Transcript:      1883
SNP Source:                   Celera
Population(Allele,Count):     no_pop(A,5|C,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:510, 61,(P,CCA) (P,CCC)



Context              (SEQ ID NO:4900):
CTAGGAAGAAATCTTTAATTTCTATTCAGCTTTAAAGAGTTTGAGAG
M
GTTTTTTCCCCTCTGTTAACAAACGAGTTCAAGTACATGCCTTCATATTATAAAAGTACCTGAAATTGCCTAGAATAGCAGCATGCATAAATGCAAACTT
Celera SNP ID:                hCV8447178
SNP Position Transcript:      48
SNP Source:                   dbSNP; Celera; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(A,1034|C,324) ; no_pop(A,2|C,8) ; no_pop(A,-|C,-) ; no_pop(A,37
8|C,330) ; no_pop(A,45|C,75)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4901):
AGCATGCATAAATGCAAACTTTGAAAAAGACATACCTTTGTAACTTTCTATGCTAAGGTGTTGCATAATCAAGGTTAATTTTTGTTTGTTTCTAGTCTAT
K
GGCATCAAGTGCTTTAAAATGCTCACTAACACCGAGGCAGAATTATTTACCCGGGCAATTAAAGCAACAGCACACACGATCATTTCCTACTAACTAGCAA
Celera SNP ID:                hCV2395483
SNP Position Transcript:      228
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(G,279|T,1307) ; no_pop(G,5|T,1) ; no_pop(G,-|T,-) ; no_pop(G,70
|T,50)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4902):
TTTTTTTTTTTTTTTTCTTCAGTGCTTTTTCAGGACTATGTTATAGAATACTTATGGGGCATACGTGTAAATGAACTGTCAACCTTAAAATCTAAACAAA
M
AGCTTGTTTGTGGTTCGTCCTGAAATCCTCCCTGCTCACAAAACAGCCAGCTACTTGGTTTTCTAAAAGACGTAATTTTGCAGGCAGACTTCGTAGAGCC
Celera SNP ID:                hCV2851415
SNP Position Transcript:      814
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|A,-) ; no_pop(C,6|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4903):
GCAAGAATTCTGGAACACGAAGGAGGTATGAAAAGGGCTTCACTCGTTTCATGGAAAAGCTCAGAACAGTTTGTCGACTTGGAAACACAGGCCCTGACAG
Y
GTACCAAGGTCACCCTGCCCTTCAATCCTGCTGATAGCCCAAGTTAACATCCTCCCATGCCTTGGCCTTCCCAGAACAAACATGGCTTTGGACGCCTTTG
Celera SNP ID:                hCV2851411
SNP Position Transcript:      1877
SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,5|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:510, 59,(S,AGC) (S,AGT)



Context              (SEQ ID NO:4904):
TTCGTCCTGAAATCCTCCCTGCTCACAAAACAGCCAGCTACTTGGTTTTCTAAAAGACGTAATTTTGCAGGCAGACTTCGTAGAGCCATTCTGTGCAGAA
S
AAGGGAAGGGAGAAGCTGTTTGTTTTACCTGTAGTATGAAGATATTCTTTGCGCTGTTAGAACTGAGCTCATTAATTCTGCCTGGCAATAATTTCAAAGG
Celera SNP ID:                hCV8902370
SNP Position Transcript:      928
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(G,1362|C,190) ; no_pop(G,9|C,2) ; no_pop(G,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4905):
TTTTTTCCCCTCTGTTAACAAACGAGTTCAAGTACATGCCTTCATATTATAAAAGTACCTGAAATTGCCTAGAATAGCAGCATGCATAAATGCAAACTTT
R
AAAAAGACATACCTTTGTAACTTTCTATGCTAAGGTGTTGCATAATCAAGGTTAATTTTTGTTTGTTTCTAGTCTATGGGCATCAAGTGCTTTAAAATGC
Celera SNP ID:                hCV2395484
SNP Position Transcript:      150
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,1070|G,518) ; no_pop(A,-|G,-) ; no_pop(A,448|G,264)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4906):
TAAAAATGTAAAATGTTTCAAATAAACACACACTAAATATCTTCTTTTATATCTTATAAACACCCAGCAGTCCTTTAGCACGGGCATCAAGGTGGCCCAG
Y
TGGAAAATTTCAGTGACATGCCATCAGATTTGTTCCATGTAGAAGGACGACACTATCAGTTAGATGCTTATTTTGTTGGCAAATTTCTATGGCACTTCTG
Celera SNP ID:                hCV1565879
SNP Position Transcript:      1221
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,6|T,3)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4907):
ATTTCAGTGACATGCCATCAGATTTGTTCCATGTAGAAGGACGACACTATCAGTTAGATGCTTATTTTGTTGGCAAATTTCTATGGCACTTCTGCTTGGC
Y
ATTTCAAACCAACCATGGAAGAATAGATACCCCAATGCGATGTTTCATCCCTATTCATAAAGAAACTGTACTTTGAGCAATGTAGGTATCCCAGGCAGCA
Celera SNP ID:                hCV1565878
SNP Position Transcript:      1328
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,4|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4908):
ATGGCAAGAATTCTGGAACACGAAGGAGGTATGAAAAGGGCTTCACTCGTTTCATGGAAAAGCTCAGAACAGTTTGTCGACTTGGAAACACAGGCCCTGA
S
AGCGTACCAAGGTCACCCTGCCCTTCAATCCTGCTGATAGCCCAAGTTAACATCCTCCCATGCCTTGGCCTTCCCAGAACAAACATGGCTTTGGACGCCT
Celera SNP ID:                hCV2851412
SNP Position Transcript:      1874
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,-|G,-) ; no_pop(C,5|G,1) ; no_pop(C,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:510, 58,(D,GAC) (E,GAG)



Context              (SEQ ID NO:4909):
GTTAAAGAAGTAGAGTAAAAATGTAAAATGTTTCAAATAAACACACACTAAATATCTTCTTTTATATCTTATAAACACCCAGCAGTCCTTTAGCACGGGC
R
TCAAGGTGGCCCAGTTGGAAAATTTCAGTGACATGCCATCAGATTTGTTCCATGTAGAAGGACGACACTATCAGTTAGATGCTTATTTTGTTGGCAAATT
Celera SNP ID:                hCV31815710
SNP Position Transcript:      1206
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4910):
GCGCTGTTAGAACTGAGCTCATTAATTCTGCCTGGCAATAATTTCAAAGGTTTATTTTGGTGTAGATGGCGAATACAGATGCATACATTTATACGCAGTA
Y
ACGAGCTAGCTATAACCATAACAGAGGTTAAAGAAGTAGAGTAAAAATGTAAAATGTTTCAAATAAACACACACTAAATATCTTCTTTTATATCTTATAA
Celera SNP ID:                hCV8902374
SNP Position Transcript:      1079
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,75|T,17) ; no_pop(C,10|T,1) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4911):
CTGCTGATAGCCCAAGTTAACATCCTCCCATGCCTTGGCCTTCCCAGAACAAACATGGCTTTGGACGCCTTTGGGTGGTTGGGACTGGCTGCCTATTTTT
Y
TCTAAAACTTAAGTTTTAGGAAAGAATTCTTTCCAGCTTTCCATCCTGAACCTGCTGGTCTCCAGGCTCGTTCCTGCAAATATTTCACAGAGGAGTAAGA
Celera SNP ID:                hCV26981898
SNP Position Transcript:      2005
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:510, 102,(S,TCT) (F,TTT)



Context              (SEQ ID NO:4912):
AAGTACATCCTCTTAATTTGTTTCTGGAAGGCAGAGTTAAGAGTTAATTCCTTCCCATGATGTGGCCCCAGCGGAGACCTTGTGTTTTTTTTTTTTTTTT
Y
CTTCAGTGCTTTTTCAGGACTATGTTATAGAATACTTATGGGGCATACGTGTAAATGAACTGTCAACCTTAAAATCTAAACAAACAGCTTGTTTGTGGTT
Celera SNP ID:                hCV2954180
SNP Position Transcript:      729
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,2|C,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4913):
CTTCAGTGCTTTTTCAGGACTATGTTATAGAATACTTATGGGGCATACGTGTAAATGAACTGTCAACCTTAAAATCTAAACAAACAGCTTGTTTGTGGTT
Y
GTCCTGAAATCCTCCCTGCTCACAAAACAGCCAGCTACTTGGTTTTCTAAAAGACGTAATTTTGCAGGCAGACTTCGTAGAGCCATTCTGTGCAGAAGAA
Celera SNP ID:                hCV2851414
SNP Position Transcript:      830
SNP Source:                   dbSNP; Celera; Nickerson
Population(Allele,Count):     no_pop(C,851|T,409) ; no_pop(C,5|T,3) ; no_pop(C,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4914):
AAACAAACAGCTTGTTTGTGGTTCGTCCTGAAATCCTCCCTGCTCACAAAACAGCCAGCTACTTGGTTTTCTAAAAGACGTAATTTTGCAGGCAGACTTC
R
TAGAGCCATTCTGTGCAGAAGAAGGGAAGGGAGAAGCTGTTTGTTTTACCTGTAGTATGAAGATATTCTTTGCGCTGTTAGAACTGAGCTCATTAATTCT
Celera SNP ID:                hCV2945878
SNP Position Transcript:      907
SNP Source:                   dbSNP; Celera; Nickerson; HapMap
Population(Allele,Count):     no_pop(G,665|A,77) ; no_pop(G,6|A,4) ; no_pop(G,-|A,-) ; no_pop(G,492|
A,48)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4915):
TAAGTTTTAGGAAAGAATTCTTTCCAGCTTTCCATCCTGAACCTGCTGGTCTCCAGGCTCGTTCCTGCAAATATTTCACAGAGGAGTAAGAGCCACATTC
K
TGCTGGCTTTCCAATTCATTCTCCTCTCTTCGAGTCCACCTCTT
Celera SNP ID:                hCV26981897
SNP Position Transcript:      2115
SNP Source:                   Celera
Population(Allele,Count):     no_pop(T,6|G,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:510, None



Context              (SEQ ID NO:4916):
GAATTCTTTCCAGCTTTCCATCCTGAACCTGCTGGTCTCCAGGCTCGTTCCTGCAAATATTTCACAGAGGAGTAAGAGCCACATTCTTGCTGGCTTTCCA
R
TTCATTCTCCTCTCTTCGAGTCCACCTCTT
Celera SNP ID:                hCV2395482
SNP Position Transcript:      2129
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,336|G,24) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:510, None



Gene Number:                  103
Celera Gene:                  hCG2040716 - 209000073578753
Celera Transcript:            hCT2345947 - 209000073578754
Public Transcript Accession:
Celera Protein:               hCP1913168 - 232000171437748
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W7K2(18383883..18396798)
Chromosome:                   4
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:250):
ACTGCAGAGAGAACATGGTCCTGCTAACACCTTGATTTCAACTTATATACCCCAGAACTGTGGGGGATATAGATTTCTCTTGTTGTTAACCACCCAGTTT
GCGGCACTTTGTTACAGTAGTGTGAAAAAAGTAATATAACATGCAATTGAAATAATTATGGATGCTACATAAAGCAAGAGATTTGGATAAAGAAATGGCA
GTGGCAAGGAGGGCAAATGGATTTCTGCTGTATTTAGAATGCCACGGTAAAAACTTTGTATTTATTAGGTATGGAGAATGAGAGGGAAGTGAAGGCTGAT
CCCCAGTTTCTGGCTTGGACAACTGTGAAGATAGTGCCTTTTGCTGAGATGGAGAATATTAGAAGAGGAGAAATTTGAGGGAAGGGAAATGCCAATTTTA
ATTCAGCCTTCTCTTATGTTTGAAATACATGTGAGAAAAGTAAAACAACACACCAGTAGTGCTGTAATGAAAATAAAGGCCATAGACTCAAAATGTAAT


Protein Sequence     (SEQ ID NO:511):
CLLLRWRILEEEKFEGREMPILIQPSLMFEIHVRKVKQHTSSAVMKIKAIDSKCN


SNP Information


Context              (SEQ ID NO:4917):
GCTACATAAAGCAAGAGATTTGGATAAAGAAATGGCAGTGGCAAGGAGGGCAAATGGATTTCTGCTGTATTTAGAATGCCACGGTAAAAACTTTGTATTT
R
TTAGGTATGGAGAATGAGAGGGAAGTGAAGGCTGATCCCCAGTTTCTGGCTTGGACAACTGTGAAGATAGTGCCTTTTGCTGAGATGGAGAATATTAGAA
Celera SNP ID:                hCV1854687
SNP Position Transcript:      264
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,12|G,2) ; no_pop(A,-|G,-) ; no_pop(A,106|G,
130)

SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:511, None



Context              (SEQ ID NO:4918):
CAAGGAGGGCAAATGGATTTCTGCTGTATTTAGAATGCCACGGTAAAAACTTTGTATTTATTAGGTATGGAGAATGAGAGGGAAGTGAAGGCTGATCCCC
R
GTTTCTGGCTTGGACAACTGTGAAGATAGTGCCTTTTGCTGAGATGGAGAATATTAGAAGAGGAGAAATTTGAGGGAAGGGAAATGCCAATTTTAATTCA
Celera SNP ID:                hCV25958838
SNP Position Transcript:      305
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,5|A,33)  total(G,6|A,72)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:511, None

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:511, None



Context              (SEQ ID NO:4919):
GCAAATGGATTTCTGCTGTATTTAGAATGCCACGGTAAAAACTTTGTATTTATTAGGTATGGAGAATGAGAGGGAAGTGAAGGCTGATCCCCAGTTTCTG
R
CTTGGACAACTGTGAAGATAGTGCCTTTTGCTGAGATGGAGAATATTAGAAGAGGAGAAATTTGAGGGAAGGGAAATGCCAATTTTAATTCAGCCTTCTC
Celera SNP ID:                hCV25958834
SNP Position Transcript:      313
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,35|A,1)  total(G,75|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:511, None



Context              (SEQ ID NO:4920):
AAAGCAAGAGATTTGGATAAAGAAATGGCAGTGGCAAGGAGGGCAAATGGATTTCTGCTGTATTTAGAATGCCACGGTAAAAACTTTGTATTTATTAGGT
R
TGGAGAATGAGAGGGAAGTGAAGGCTGATCCCCAGTTTCTGGCTTGGACAACTGTGAAGATAGTGCCTTTTGCTGAGATGGAGAATATTAGAAGAGGAGA
Celera SNP ID:                hCV25959371
SNP Position Transcript:      271
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,1|A,39)  african american(G,2|A,36)  total(G,3|A,75)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:511, None



Gene Number:                  104
Celera Gene:                  hCG2041021 - 209000073581593
Celera Transcript:            hCT2346252 - 209000073581594
Public Transcript Accession:
Celera Protein:               hCP1912006 - 232000171436586
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VWPT(32338598..32365808)
Chromosome:                   2
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:251):
AGCCCCGGGAGGTGCAGGGCCCAGTCTGCCCATCTCGACCCCAGTGCTCTCCTGCCAGGCTGCCCTCCGGCCCGGCCCCAGGTCCATCTTCATGTACTCC
TCAGTGCCAGTCTCTTCCTCTCTGGGAGCTGGCTGGAGCTGGGATGGACACCTGACAGAAGGAAATTAAAATTTTAAGGGCTAATTCCCCTTCATTCAAG
AAATATTTACTGTGATGAAGACATGTTCCATGCAGAGGAAATGGCCAATGCAAAGAGCCCCTGACTGGAGGGCATTTGGCACATTCTAGGAGAGTGAGGA
GGATTCTATGGGCCAGGAATTCAGACAGGGCACAGTGTTGATGGCTTGTCTGTGTCCTGGCTGGGATGGCTCAAATGGTTGTGGGACTATTTGACTTGAA
AGGCTGGAGCCTGGAATCATTTGAAACATTGTTCACTCATGTGTCTGGCACCTGCGTTAGAATGACTGAAGGCTACATCAACTAGAGTACTTACATCCGG
TCTCTCCATGTGACTTGGACTTTTCACAGCGTGGAGGCTGGATTTCAAAGGTCAACTGAGAATGGCAGAGGACTCATCCCACCTTTGCCACATGGTGACT
TGCCCCACTCCCCCAGGTGACCTTGCTCGTGCATGTGGATATTTGCTCAGATTAAGAATGTTTCCCACAAA


Protein Sequence     (SEQ ID NO:512):
SPGRCRAQSAHLDPSALLPGCPPARPQVHLHVLLSASLFLSGSWLELGWTPDRRKLKF*


SNP Information


Context              (SEQ ID NO:4921):
AGCCC
Y
GGGAGGTGCAGGGCCCAGTCTGCCCATCTCGACCCCAGTGCTCTCCTGCCAGGCTGCCCTCCGGCCCGGCCCCAGGTCCATCTTCATGTACTCCTCAGTG
Celera SNP ID:                hCV2384392
SNP Position Transcript:      6
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,3)  african american(C,31|T,3)  total(C,64|T,6)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:512, 2,(P,CCC) (P,CCT)

SNP Source:                   HGMD; dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,3734|T,138) ; no_pop(C,15228|T,1008)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:512, 2,(P,CCC) (P,CCT)



Context              (SEQ ID NO:4922):
CCTGCCAGGCTGCCCTCCGGCCCGGCCCCAGGTCCATCTTCATGTACTCCTCAGTGCCAGTCTCTTCCTCTCTGGGAGCTGGCTGGAGCTGGGATGGACA
Y
CTGACAGAAGGAAATTAAAATTTTAAGGGCTAATTCCCCTTCATTCAAGAAATATTTACTGTGATGAAGACATGTTCCATGCAGAGGAAATGGCCAATGC
Celera SNP ID:                hCV15851258
SNP Position Transcript:      151
SNP Source:                   dbSNP; Nickerson; HapMap; ABI_Val
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,-) ; no_pop(T,-|C,240
)

SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:512, 51,(P,CCT) (S,TCT)



Gene Number:                  105
Celera Gene:                  hCG2041226 - 209000073583513
Celera Transcript:            hCT2346457 - 209000073583514
Public Transcript Accession:
Celera Protein:               hCP1911178 - 232000171425598
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W8UP(37141581..37204110)
Chromosome:                   2
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:252):
TCAAGGGTATATGAGTAGCTGCGCTCTCTACTAGAACCTCCAAGCAAGCGCTCAGGAATTGGCAACACGGAGAAGCTTCTTGAGCTCAGTGTGATTATGG
CAGAAACTCTGAAGCTAAAGAAACTTCCCATGTTGCTGTGGTCACAGCTCAAGGGGACATGAAGAAACCTTTAAGGATGGAGGTGTGTCTACTGTCTTCA
TCCTGGTGATGCTTTCATAGGTATGGACACAATATCAAAATGTATTCAATTGTACACCCTAGAAATGTGCACTTTATTGTGTATATATTATACCTAAATA
AAGCTGTTTTTTAAAAAACAAAAACCTA


Protein Sequence     (SEQ ID NO:513):
LRSLLEPPSKRSGIGNTEKLLELSVIMAETLKLKKLPMLLWSQLKGT*


SNP Information


Context              (SEQ ID NO:4923):
ACTAGAACCTCCAAGCAAGCGCTCAGGAATTGGCAACACGGAGAAGCTTCTTGAGCTCAGTGTGATTATGGCAGAAACTCTGAAGCTAAAGAAACTTCCC
W
TGTTGCTGTGGTCACAGCTCAAGGGGACATGAAGAAACCTTTAAGGATGGAGGTGTGTCTACTGTCTTCATCCTGGTGATGCTTTCATAGGTATGGACAC
Celera SNP ID:                hCV31158397
SNP Position Transcript:      130
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:513, 38,(M,ATG) (L,TTG)



Context              (SEQ ID NO:4924):
CTCAGTGTGATTATGGCAGAAACTCTGAAGCTAAAGAAACTTCCCATGTTGCTGTGGTCACAGCTCAAGGGGACATGAAGAAACCTTTAAGGATGGAGGT
R
TGTCTACTGTCTTCATCCTGGTGATGCTTTCATAGGTATGGACACAATATCAAAATGTATTCAATTGTACACCCTAGAAATGTGCACTTTATTGTGTATA
Celera SNP ID:                hCV25746866
SNP Position Transcript:      185
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,29|A,5)  african american(G,15|A,21)  total(G,44|A,26)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:513, None

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,31|A,5)  african american(G,13|A,19)  total(G,44|A,24)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:513, None



Gene Number:                  106
Celera Gene:                  hCG2041520 - 30000035117822
Celera Transcript:            hCT2346751 - 30000035117824
Public Transcript Accession:  NM_001005567
Celera Protein:               hCP1913080 - 30000035117818
Public Protein Accession:     NP_001005567
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32VW1T(45526110..45542449)
Chromosome:                   11
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:253):
ATGTTGAGAAGGAACAACATGATCTAAGTCTTTAGAAACCAAGAGCCACGACTAGCTGAGGACACAAGAATTTTCACAAAACAAAGTAGAGTGATTCCAT
AGATCACTATTATAGCTGCATTACCAGTCCTAGGACAGAATATGGATGCTGAAAAATGATTCTTTCAAAGTGCTGAGTTGTTGCCTCACGCCCAGTTGTC
TGGCATCTCTTCACTGAAACTATTACAGTTAGATCTCATCTCTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGATACCTTGAAGGTA
GAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAGGATGTCGTCCAGCAGCAGCTCCCATCCCTTCCTATTGAC
TGGTTTTCCAGGCTTGGAGGAAGCTCATCACTGGATTTCCGTATTTTTCTTGTTCATGTATATATCCATCCTTTTTGGCAATGGCACCCTCCTTCTTCTC
ATTAAGGAAGATCACAATCTTCATGAGCCCATGTACTTCTTTCTGGCCATGCTGGCTGCCACAGACCTGGGGCTGGCCCTGACCACAATGCCCACGGTGC
TGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGCGGCCTGCTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCTCGAGTCTGGCATTCT
GCTTGCCATGGCCTATGACCGTTTTATTGCCATCTGCAACCCTCTTAGATATACCTCTGTACTTACTAATACTCGAGTAGTGAAGATTGGGCTGGGAGTT
CTGATGAGGGGATTTGTATCCGTTGTTCCCCCAATCAGGCCCCTCTATTTTTTTCTGTATTGTCACTCCCATGTTCTTTCACATGCATTCTGCCTTCACC
AGGATGTCATTAAACTCGCCTGTGCTGATACCACCTTCAACCGACTGTACCCAGCTGTGCTTGTAGTCTTTATATTTGTGCTGGATTATCTGATTATCTT
CATCTCCTATGTGTTGATACTCAAGACTGTCCTGAGCATTGCCTCCAGAGAGGAGAGGGCCAAGGCTCTCATTACCTGTGTCTCCCATATCTGCTGTGTC
CTGGTTTTTTATGTCACAGTGATTGGATTGTCTCTGATTCATCGTTTTGGAAAGCAGGTTCCACATATTGTTCACCTCATTATGAGCTATGCCTATTTTC
TGTTCCCTCCACTAATGAATCCTATAACATATAGTGTCAAGACCAAGCAGATTCAGAATGCCATTCTTCACCTTTTTACTACCCATAGAATTGGAACCTG
A


Protein Sequence     (SEQ ID NO:514):
MSSSSSSHPFLLTGFPGLEEAHHWISVFFLFMYISILFGNGTLLLLIKEDHNLHEPMYFFLAMLAATDLGLALTTMPTVLGVLWLDHREIGSAACFSQAY
FIHSLSFLESGILLAMAYDRFIAICNPLRYTSVLTNTRVVKIGLGVLMRGFVSVVPPIRPLYFFLYCHSHVLSHAFCLHQDVIKLACADTTFNRLYPAVL
VVFIFVLDYLIIFISYVLILKTVLSIASREERAKALITCVSHICCVLVFYVTVIGLSLIHRFGKQVPHIVHLIMSYAYFLFPPLMNPITYSVKTKQIQNA
ILHLFTTHRIGT*



SNP Information


Context              (SEQ ID NO:4925):
CTCTATTTTTTTCTGTATTGTCACTCCCATGTTCTTTCACATGCATTCTGCCTTCACCAGGATGTCATTAAACTCGCCTGTGCTGATACCACCTTCAACC
R
ACTGTACCCAGCTGTGCTTGTAGTCTTTATATTTGTGCTGGATTATCTGATTATCTTCATCTCCTATGTGTTGATACTCAAGACTGTCCTGAGCATTGCC
Celera SNP ID:                hCV25751687
SNP Position Transcript:      943
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,40|A,0)  african american(G,34|A,2)  total(G,74|A,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 194,(R,CGA) (Q,CAA)



Context              (SEQ ID NO:4926):
GTTTTATTGCCATCTGCAACCCTCTTAGATATACCTCTGTACTTACTAATACTCGAGTAGTGAAGATTGGGCTGGGAGTTCTGATGAGGGGATTTGTATC
S
GTTGTTCCCCCAATCAGGCCCCTCTATTTTTTTCTGTATTGTCACTCCCATGTTCTTTCACATGCATTCTGCCTTCACCAGGATGTCATTAAACTCGCCT
Celera SNP ID:                hCV25750910
SNP Position Transcript:      821
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|C,40)  african american(G,1|C,35)  total(G,1|C,75)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:514, 153,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4927):
CTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGATACCTTGAAGGTAGAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACA
W
TTCTTCTATATAAACCCAGGATGTCGTCCAGCAGCAGCTCCCATCCCTTCCTATTGACTGGTTTTCCAGGCTTGGAGGAAGCTCATCACTGGATTTCCGT
Celera SNP ID:                hCV30940407
SNP Position Transcript:      342
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4928):
TCTTCACTGAAACTATTACAGTTAGATCTCATCTCTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGATACCTTGAAGGTAGAACTGT
R
CACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAGGATGTCGTCCAGCAGCAGCTCCCATCCCTTCCTATTGACTGGTTTTC
Celera SNP ID:                hCV30940408
SNP Position Transcript:      308
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4929):
TGCATTACCAGTCCTAGGACAGAATATGGATGCTGAAAAATGATTCTTTCAAAGTGCTGAGTTGTTGCCTCACGCCCAGTTGTCTGGCATCTCTTCACTG
W
AACTATTACAGTTAGATCTCATCTCTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGATACCTTGAAGGTAGAACTGTGCACTGTGGT
Celera SNP ID:                hCV30940417
SNP Position Transcript:      217
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4930):
CCTCTTAGATATACCTCTGTACTTACTAATACTCGAGTAGTGAAGATTGGGCTGGGAGTTCTGATGAGGGGATTTGTATCCGTTGTTCCCCCAATCAGGC
Y
CCTCTATTTTTTTCTGTATTGTCACTCCCATGTTCTTTCACATGCATTCTGCCTTCACCAGGATGTCATTAAACTCGCCTGTGCTGATACCACCTTCAAC
Celera SNP ID:                hCV25750965
SNP Position Transcript:      841
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,19|C,21)  african american(T,8|C,28)  total(T,27|C,49)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 160,(P,CCC) (L,CTC)

SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 160,(P,CCC) (L,CTC)



Context              (SEQ ID NO:4931):
TTTTATTGCCATCTGCAACCCTCTTAGATATACCTCTGTACTTACTAATACTCGAGTAGTGAAGATTGGGCTGGGAGTTCTGATGAGGGGATTTGTATCC
R
TTGTTCCCCCAATCAGGCCCCTCTATTTTTTTCTGTATTGTCACTCCCATGTTCTTTCACATGCATTCTGCCTTCACCAGGATGTCATTAAACTCGCCTG
Celera SNP ID:                hCV25750908
SNP Position Transcript:      822
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,36|A,4)  african american(G,26|A,10)  total(G,62|A,14)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 154,(V,GTT) (I,ATT)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 154,(V,GTT) (I,ATT)



Context              (SEQ ID NO:4932):
TGAGCCCATGTACTTCTTTCTGGCCATGCTGGCTGCCACAGACCTGGGGCTGGCCCTGACCACAATGCCCACGGTGCTGGGAGTCCTCTGGCTGGATCAC
R
GGGAGATTGGAAGTGCGGCCTGCTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCTCGAGTCTGGCATTCTGCTTGCCATGGCCTATGACCGTTT
Celera SNP ID:                hCV25760444
SNP Position Transcript:      624
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,0|A,34)  african american(G,5|A,17)  total(G,5|A,51)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 88,(R,AGG) (G,GGG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,2|A,34)  african american(G,6|A,22)  total(G,8|A,56)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 88,(R,AGG) (G,GGG)



Context              (SEQ ID NO:4933):
ATAGTCGAAGTGATACCTTGAAGGTAGAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAGGATGTCGTCCAGC
R
GCAGCTCCCATCCCTTCCTATTGACTGGTTTTCCAGGCTTGGAGGAAGCTCATCACTGGATTTCCGTATTTTTCTTGTTCATGTATATATCCATCCTTTT
Celera SNP ID:                hCV30940405
SNP Position Transcript:      375
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 5,(S,AGC) (G,GGC)



Context              (SEQ ID NO:4934):
ATGTTGAGAAGGAACAACATGATCTAAGTCTTTAGAAACCAAGAGCCAC
R
ACTAGCTGAGGACACAAGAATTTTCACAAAACAAAGTAGAGTGATTCCATAGATCACTATTATAGCTGCATTACCAGTCCTAGGACAGAATATGGATGCT
Celera SNP ID:                hCV30940420
SNP Position Transcript:      50
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4935):
TTCTGAGAATGATATAGTCGAAGTGATACCTTGAAGGTAGAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAG
R
ATGTCGTCCAGCAGCAGCTCCCATCCCTTCCTATTGACTGGTTTTCCAGGCTTGGAGGAAGCTCATCACTGGATTTCCGTATTTTTCTTGTTCATGTATA
Celera SNP ID:                hCV30940406
SNP Position Transcript:      362
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4936):
CTTCTCATTAAGGAAGATCACAATCTTCATGAGCCCATGTACTTCTTTCTGGCCATGCTGGCTGCCACAGACCTGGGGCTGGCCCTGACCACAATGCCCA
M
GGTGCTGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGCGGCCTGCTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCTCGAGTCTGGC
Celera SNP ID:                hCV25760373
SNP Position Transcript:      595
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|A,0)  african american(C,20|A,4)  total(C,54|A,4)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 78,(T,ACG) (K,AAG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|A,2)  african american(C,20|A,4)  total(C,54|A,6)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 78,(T,ACG) (K,AAG)



Context              (SEQ ID NO:4937):
CGCCCAGTTGTCTGGCATCTCTTCACTGAAACTATTACAGTTAGATCTCATCTCTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGAT
W
CCTTGAAGGTAGAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAGGATGTCGTCCAGCAGCAGCTCCCATCCC
Celera SNP ID:                hCV30940409
SNP Position Transcript:      289
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4938):
CTGGGGCTGGCCCTGACCACAATGCCCACGGTGCTGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGCGGCCTGCTTTTCCCAGGCCTACTTTA
Y
ACACTCACTTTCCTTTCTCGAGTCTGGCATTCTGCTTGCCATGGCCTATGACCGTTTTATTGCCATCTGCAACCCTCTTAGATATACCTCTGTACTTACT
Celera SNP ID:                hCV25760548
SNP Position Transcript:      667
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,15|C,19)  african american(T,18|C,6)  total(T,33|C,25)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 102,(I,ATA) (T,ACA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,21|C,19)  african american(T,28|C,8)  total(T,49|C,27)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 102,(I,ATA) (T,ACA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 102,(I,ATA) (T,ACA)



Context              (SEQ ID NO:4939):
ACGCCCAGTTGTCTGGCATCTCTTCACTGAAACTATTACAGTTAGATCTCATCTCTATGGGTGGAAGGAAAAAATTCTGAGAATGATATAGTCGAAGTGA
K
ACCTTGAAGGTAGAACTGTGCACTGTGGTAATAACAGAAACAGAAAGACGACATTTCTTCTATATAAACCCAGGATGTCGTCCAGCAGCAGCTCCCATCC
Celera SNP ID:                hCV30940410
SNP Position Transcript:      288
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|T,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:514, None



Context              (SEQ ID NO:4940):
CTGTGCTGATACCACCTTCAACCGACTGTACCCAGCTGTGCTTGTAGTCTTTATATTTGTGCTGGATTATCTGATTATCTTCATCTCCTATGTGTTGATA
Y
TCAAGACTGTCCTGAGCATTGCCTCCAGAGAGGAGAGGGCCAAGGCTCTCATTACCTGTGTCTCCCATATCTGCTGTGTCCTGGTTTTTTATGTCACAGT
Celera SNP ID:                hCV25755946
SNP Position Transcript:      1020
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,2)  african american(T,5|C,19)  total(T,5|C,21)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 220,(L,CTC) (F,TTC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,40)  african american(T,3|C,21)  total(T,3|C,61)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 220,(L,CTC) (F,TTC)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 220,(L,CTC) (F,TTC)



Context              (SEQ ID NO:4941):
GCCATGCTGGCTGCCACAGACCTGGGGCTGGCCCTGACCACAATGCCCACGGTGCTGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGCGGCCT
S
CTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCTCGAGTCTGGCATTCTGCTTGCCATGGCCTATGACCGTTTTATTGCCATCTGCAACCCTCTT
Celera SNP ID:                hCV25760488
SNP Position Transcript:      646
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|C,0)  african american(G,23|C,1)  total(G,57|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 95,(C,TGC) (S,TCC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,38|C,0)  african american(G,33|C,1)  total(G,71|C,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:514, 95,(C,TGC) (S,TCC)



Context              (SEQ ID NO:4942):
CAATGCCCACGGTGCTGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGCGGCCTGCTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCT
Y
GAGTCTGGCATTCTGCTTGCCATGGCCTATGACCGTTTTATTGCCATCTGCAACCCTCTTAGATATACCTCTGTACTTACTAATACTCGAGTAGTGAAGA
Celera SNP ID:                hCV25755791
SNP Position Transcript:      686
SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,0|C,34)  african american(T,4|C,18)  total(T,4|C,52)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:514, 108,(L,CTC) (L,CTT)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(T,4|C,36)  african american(T,10|C,26)  total(T,14|C,62)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:514, 108,(L,CTC) (L,CTT)



Context              (SEQ ID NO:4943):
TTCTGGCCATGCTGGCTGCCACAGACCTGGGGCTGGCCCTGACCACAATGCCCACGGTGCTGGGAGTCCTCTGGCTGGATCACAGGGAGATTGGAAGTGC
R
GCCTGCTTTTCCCAGGCCTACTTTATACACTCACTTTCCTTTCTCGAGTCTGGCATTCTGCTTGCCATGGCCTATGACCGTTTTATTGCCATCTGCAACC
Celera SNP ID:                hCV25760489
SNP Position Transcript:      641
SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,34|A,0)  african american(G,20|A,4)  total(G,54|A,4)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:514, 93,(A,GCG) (A,GCA)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(G,35|A,3)  african american(G,25|A,9)  total(G,60|A,12)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:514, 93,(A,GCG) (A,GCA)



Gene Number:                  107
Celera Gene:                  hCG2042489 - 209000073606208
Celera Transcript:            hCT2347720 - 209000073606209
Public Transcript Accession:
Celera Protein:               hCP1910951 - 232000171425371
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W0QP(26325001..26339380)
Chromosome:                   14
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:254):
CAAGATATGCCAGCTGCAATGAAGAGAAGCCCTGTTTCAGTTCGTGGATTACAGACTGCAACATCCATCAGCATCAAGACAAACACCTTCAAACTACTGT
CCTTGGCGTCCAGCCTAACAGATCTGAGGAATGTGATAAAGGAACACTGGATTCCCAAGGTCTGCTCAGGTTTCCTTCCATAACAAGAAGTAGCCAAATA
CAGCTGAACAGGCCTGCTGAAACCACTGATTTCTTTCGTTTAAGTTCAGAGGTTCGTAACCTGCTCAATGGTTTAAACAACAACAACAAGCAGTATCGGA
AGTCAGCATCATCTACTCAGCAGCCCAAATCTGGA


Protein Sequence     (SEQ ID NO:515):
RYASCNEEKPCFSSWITDCNIHQHQDKHLQTTVLGVQPNRSEECDKGTLDSQGLLRFPSITRSSQIQLNRPAETTDFFRLSSEVRNLLNGLNNNNKQYRK
SASSTQQPKSG



SNP Information


Gene Number:                  108
Celera Gene:                  hCG2040091 - 208000030270581
Celera Transcript:            hCT2345256 - 208000030270576
Public Transcript Accession:
Celera Protein:               hCP1910544 - 208000030270565
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(16008477..16129579)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:255):
GGAATTGGGAAGAAGGATAAATACATACATGGAGGAGCAATAGAAGTCTACCTTATGGAGCATGTGGAAATATCAGGTGGCTTCTTCAAATGATTTTTAA
GTATCTCGATGATGATGAAGAACAAAGACATCAATCAGGATTCAGGAAGACAGCTTTTGCGGAAAATGCTTAAAGGGAAGCATCAAGGATTGGTGTTGAT
ATTTGAAAGTTTAAGAGTGGTATACTTTTATTCAGTCAACACATGACAAATGTAAAAGGCACTCATTTGTTGTTCCTGGAAGAAGCCTGGCAGCATTCCA
TTCAGACATCTGCCCTTTCATCGTCCCACTTTTTACTTATTGCAGTCCTTTCAGTCTGAATATTTCCTCCTGACGCATCTTCTGCCGTCCGAAATGACTC
CCTGCTCCCAGATCCTGTAGCCCTTATTATTGACACCTTTCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAATAAATAA
ATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAAC
ATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAAAAAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGA
GACAACCATCTTCAATAAACGTTTTCTCATCTAAGGGCTGTATGTACATCATTTTGGGGAAGGTAGAGATTGAAGGAGGAAGAACATCACTGGAGGAAGA
GACAGCAGTTTGTCTTTCGAGTTTCAATAAAGTTTCAAAAATCTTGCCTAAGTTATATATTTTTTTGGCCTTTCCCTTTTGATGTGACAATAA


Protein Sequence     (SEQ ID NO:516):
MSFPSISENYLDNFFLSQFSESAVFCQETFIDDDGNSRLKSDEVLFLKKG*


SNP Information


Context              (SEQ ID NO:4944):
TACACCATTATTGAATAAATAATGAATAAATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCA
R
TTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAAAAAAAGGTTGAG
Celera SNP ID:                hDV71009533
SNP Position Transcript:      568
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:516, 18,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:4945):
TGACTCCCTGCTCCCAGATCCTGTAGCCCTTATTATTGACACCTTTCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAAT
R
AATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAA
Celera SNP ID:                hCV29092727
SNP Position Transcript:      495
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:516, None



Context              (SEQ ID NO:4946):
GGAATTGGGAAGAAGGATAAATACATACATGGAGGAG
M
AATAGAAGTCTACCTTATGGAGCATGTGGAAATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCTCGATGATGATGAAGAACAAAGACATCAATCAG
Celera SNP ID:                hCV31109806
SNP Position Transcript:      38
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|C,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:516, None



Context              (SEQ ID NO:4947):
TTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAA
R
AAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGAGACAACCATCTTCAATAAACGTTTTCTCATCTAAGGGCTGTATGTACATCATTTTGG
Celera SNP ID:                hCV32325494
SNP Position Transcript:      657
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:516, 48,(K,AAA) (R,AGA)



Gene Number:                  108
Celera Gene:                  hCG2040091 - 208000030270581
Celera Transcript:            hCT2345257 - 208000030270571
Public Transcript Accession:
Celera Protein:               hCP1910545 - 208000030270563
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(16008477..16129579)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:256):
ATAGCTGCCGCTAATGGAGTTGGACTCATGAGTGAGGGAGAAAGTGCCTGTGAATGACATCATTATGCGACATCATAGGACAGTTTTTTTTTTCTTTTAT
TCACTCGTCTTTCTTTTATTTCAACTGATGATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCTCGATGATGATGAAGAACAAAGACATCAATCAGG
ATTCAGGAAGACAGCTTTTGCGGAAAATGCTTAAAGGGAAGCATCAAGGATTGGTGTTGATATTTGAAAGTTTAAGAGTGGTATACTTTTATTCAGTCAA
CACATGACAAATGTAAAAGGCACTCATTTGTTGTTCCTGGAAGAAGCCTGGCAGCATTCCATTCAGACATCTGCCCTTTCATCGTCCCACTTTTTACTTA
TTGCAGTCCTTTCAGTCTGAATATTTCCTCCTGACGCATCTTCTGCCGTCCGAAATGACTCCCTGCTCCCAGATCCTGTAGCCCTTATTATTGACACCTT
TCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAATAAATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGA
ACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGA
TGAAGTTTTATTTTTAAAAAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGAGACAACCATCTTCAATAAACGTTTTCTCATCTAAGGGCT
GTATGTACATCATTTTGGGGAAGGTAGAGATTGAAGGAGGAAGAACATCACTGGAGGAAGAGACAGCAGTTTGTCTTTCGAGTTTCAATAAAGTTTCAAA
AATCTTGCCTAAGTTATATATTTTTTTGGCCTTTCCCTTTTGATGTGACAATAA


Protein Sequence     (SEQ ID NO:517):
MSFPSISENYLDNFFLSQFSESAVFCQETFIDDDGNSRLKSDEVLFLKKG*


SNP Information


Context              (SEQ ID NO:4948):
TACACCATTATTGAATAAATAATGAATAAATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCA
R
TTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAAAAAAAGGTTGAG
Celera SNP ID:                hDV71009533
SNP Position Transcript:      629
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:517, 18,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:4949):
TGACTCCCTGCTCCCAGATCCTGTAGCCCTTATTATTGACACCTTTCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAAT
R
AATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAA
Celera SNP ID:                hCV29092727
SNP Position Transcript:      556
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:517, None



Context              (SEQ ID NO:4950):
TTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAA
R
AAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGAGACAACCATCTTCAATAAACGTTTTCTCATCTAAGGGCTGTATGTACATCATTTTGG
Celera SNP ID:                hCV32325494
SNP Position Transcript:      718
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:517, 48,(K,AAA) (R,AGA)



Gene Number:                  108
Celera Gene:                  hCG2040091 - 208000030270581
Celera Transcript:            hCT2345258 - 208000030270570
Public Transcript Accession:
Celera Protein:               hCP1910543 - 208000030270564
Public Protein Accession:
Gene Symbol:
Protein Name:
Celera Genomic Axis:          GA_x5YUV32W46Y(16008477..16129579)
Chromosome:                   12
OMIM NUMBER:
OMIM Information:


Transcript Sequence  (SEQ ID NO:257):
TATTCCGTGATATTGAATAAGTCTCACAAGATCTGGTGGGTTTATCAGGGGTTTCTGCTTTTGCTTCTTCCTCAGTTTCTCTTGCTGCCACCGTGTAAGA
AGGACCTTTTGCCTCCCACCATGATTCTAAGGCCTCCCCAGCCACGTGGAACTATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCTCGATGATGAT
GAAGAACAAAGACATCAATCAGGATTCAGGAAGACAGCTTTTGCGGAAAATGCTTAAAGGGAAGCATCAAGGATTGGTGTTGATATTTGAAAGTTTAAGA
GTGGTATACTTTTATTCAGTCAACACATGACAAATGTAAAAGGCACTCATTTGTTGTTCCTGGAAGAAGCCTGGCAGCATTCCATTCAGACATCTGCCCT
TTCATCGTCCCACTTTTTACTTATTGCAGTCCTTTCAGTCTGAATATTTCCTCCTGACGCATCTTCTGCCGTCCGAAATGACTCCCTGCTCCCAGATCCT
GTAGCCCTTATTATTGACACCTTTCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAATAAATAAATAAATAAAGATGTAT
GTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGAT
GGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAAAAAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGAGACAACCATCTTCAAT
AAACGTTTTCTCATCTAAGGGCTGTATGTACATCATTTTGGGGAAGGTAGAGATTGAAGGAGGAAGAACATCACTGGAGGAAGAGACAGCAGTTTGTCTT
TCGAGTTTCAATAAAGTTTCAAAAATCTTGCCTAAGTTATATATTTTTTTGGCCTTTCCCTTTTGATGTGACAATAA


Protein Sequence     (SEQ ID NO:518):
MSFPSISENYLDNFFLSQFSESAVFCQETFIDDDGNSRLKSDEVLFLKKG*


SNP Information


Context              (SEQ ID NO:4951):
TACACCATTATTGAATAAATAATGAATAAATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCA
R
TTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAAAAAAAGGTTGAG
Celera SNP ID:                hDV71009533
SNP Position Transcript:      652
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:518, 18,(Q,CAA) (Q,CAG)



Context              (SEQ ID NO:4952):
TGACTCCCTGCTCCCAGATCCTGTAGCCCTTATTATTGACACCTTTCATTTAGAAATTTAGCACATGTCACATTACACCATTATTGAATAAATAATGAAT
R
AATAAATAAATAAAGATGTATGTCCTTCCCAAGTATATCAGAGAACTATCTGGACAATTTCTTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAA
Celera SNP ID:                hCV29092727
SNP Position Transcript:      579
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:518, None



Context              (SEQ ID NO:4953):
TCTGGTGGGTTTATCAGGGGTTTCTGCTTTTGCTTCTTCCTCAGTTTCTCTTGCTGCCACCGTGTAAGAAGGACCTTTTGCCTCCCACCATGATTCTAAG
K
CCTCCCCAGCCACGTGGAACTATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCTCGATGATGATGAAGAACAAAGACATCAATCAGGATTCAGGAA
Celera SNP ID:                hCV11685857
SNP Position Transcript:      132
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|T,-) ; no_pop(G,4|T,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:518, None



Context              (SEQ ID NO:4954):
TATTCCGTGATATTGAATAAGTCTCACAAGATCTGGTGGGTTTATCAGGGGTTTCTGCTTTTGCTTCTTCCTCAGTTTCTCTTGCTGCC
R
CCGTGTAAGAAGGACCTTTTGCCTCCCACCATGATTCTAAGGCCTCCCCAGCCACGTGGAACTATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCT
Celera SNP ID:                hCV31188827
SNP Position Transcript:      90
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:518, None



Context              (SEQ ID NO:4955):
TATTCCGTGATATTGAATAAGTCTCACAAGATCTGGTGGGTTTATCAGGGGTTTCTGCTTTTGCTTCTTCCTCAGTTTCTCTTGCTGCCACC
R
TGTAAGAAGGACCTTTTGCCTCCCACCATGATTCTAAGGCCTCCCCAGCCACGTGGAACTATATCAGGTGGCTTCTTCAAATGATTTTTAAGTATCTCGA
Celera SNP ID:                hCV11685856
SNP Position Transcript:      93
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(G,-|A,-) ; no_pop(G,3|A,1)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:518, None



Context              (SEQ ID NO:4956):
TTTCTTTCCCAATTCTCAGAATCAGCAGTATTCTGTCAAGAAACATTTATCGACGATGATGGCAATAGTCGATTAAAATCAGATGAAGTTTTATTTTTAA
R
AAAAGGTTGAGCGGAGAGACAAGGCTGAAGGTTTGGAAGTTGAGACAACCATCTTCAATAAACGTTTTCTCATCTAAGGGCTGTATGTACATCATTTTGG
Celera SNP ID:                hCV32325494
SNP Position Transcript:      741
SNP Source:                   Nickerson
Population(Allele,Count):     no_pop(A,-|G,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:518, 48,(K,AAA) (R,AGA)



Gene Number:                  109
Celera Gene:                  hCG2042882 - 30000054045390
Celera Transcript:            hCT2348373 - 30000054045391
Public Transcript Accession:  NM_016373
Celera Protein:               hCP1913623 - 30000054045381
Public Protein Accession:     NP_057457
Gene Symbol:                  WWOX
Protein Name:                  WW domain containing oxidoreductase
Celera Genomic Axis:          GA_x5YUV32W3V0(8985498..10110498)
Chromosome:                   16
OMIM NUMBER:                  605131
OMIM Information:             Esophageal squamous cell carcinoma, 133239 (3)


Transcript Sequence  (SEQ ID NO:258):
GCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGG
GGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGA
ACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGATT
TGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTT
TACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAA
GTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGG
CAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAAACAATGACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCA
TTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGCAACTTTTGCTCTACCCTGGAGTCTCACCAAAGATGGCCTG
GAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTCCAGCTCCTCCAGGATGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCT
CCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGC
TTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAAT
ATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATGCAACAGGGAGCTGCCACCA
CCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGA
GACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACAC
CCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCATTCA
CAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTT
CTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGGTTGGCGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAA
TAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCCAGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCAC
TGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTTAGCAACTGCTGGGGAGACAAATCTCAGAACCTTG
TCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTATA
CAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATA
TTTTGGGGGGCAGAGAATAAAACGTTAGTTAATCCCTTTGTCTGTCAATCACAGTCTCAGTTCTCTTGCTTTCACATTG


Protein Sequence     (SEQ ID NO:519):
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTK
PTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVETMTLDLALLRSVQHFAEAFKAK
NVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWAL
SERLIQERLGSQSG*



SNP Information


Context              (SEQ ID NO:4957):
CAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATC
Y
GACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGA
Celera SNP ID:                hCV25654178
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,2)  african american(C,30|T,0)  total(C,60|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 98,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4958):
CCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCT
S
CAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGG
Celera SNP ID:                hCV25654217
SNP Position Transcript:      969
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2726|G,250) ; no_pop(C,-|G,-) ; no_pop(C,226|G,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 282,(P,CCA) (A,GCA)



Context              (SEQ ID NO:4959):
CCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAA
R
CAATGACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGC
Celera SNP ID:                hCV57888
SNP Position Transcript:      660
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,6|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 179,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4960):
CCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCT
S
CAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATG
Celera SNP ID:                hCV25654177
SNP Position Transcript:      476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|G,0)  african american(C,27|G,1)  total(C,59|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:519, 117,(L,CTC) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|G,0)  african american(C,31|G,1)  total(C,67|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:519, 117,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4961):
TGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGT
Y
GCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTC
Celera SNP ID:                hCV25654218
SNP Position Transcript:      960
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|T,0)  african american(C,36|T,2)  total(C,74|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 279,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4962):
GCTCCTCCAGGATGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAA
S
TGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCA
Celera SNP ID:                hCV25761700
SNP Position Transcript:      948
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|G,0)  african american(C,36|G,2)  total(C,74|G,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 275,(L,CTG) (V,GTG)



Context              (SEQ ID NO:4963):
TCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCAC
R
CGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCT
Celera SNP ID:                hCV25654208
SNP Position Transcript:      1066
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,4|G,34)  total(A,4|G,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 314,(R,CGC) (H,CAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,4|G,34)  total(A,4|G,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 314,(R,CGC) (H,CAC)



Context              (SEQ ID NO:4964):
GCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAA
W
GAAAACGAGTGGCAGGAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTA
Celera SNP ID:                hCV31816284
SNP Position Transcript:      279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:519, 52,(R,AGA) (*,TGA)



Context              (SEQ ID NO:4965):
GGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGA
Y
CTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAAACAATGACCCTGGACCTCGCT
Celera SNP ID:                hCV15971168
SNP Position Transcript:      580
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 152,(I,ATC) (T,ACC)



Context              (SEQ ID NO:4966):
GGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGCAACTTTTGCT
S
TACCCTGGAGTCTCACCAAAGATGGCCTGGAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTCCAGCTCCTCCAGGATGTTTTGTGCCG
Celera SNP ID:                hCV25654189
SNP Position Transcript:      771
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|G,0)  african american(C,33|G,1)  total(C,67|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 216,(L,CTA) (V,GTA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:519, 216,(L,CTA) (V,GTA)



Context              (SEQ ID NO:4967):
ATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTC
S
AAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCA
Celera SNP ID:                hCV27480383
SNP Position Transcript:      1013
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1444|G,20) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:519, 296,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4968):
GCCGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTCAGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTC
Y
GGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAAC
Celera SNP ID:                hCV25761235
SNP Position Transcript:      1364
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,33|T,1)  african american(C,36|T,0)  total(C,69|T,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:519, 413,(S,TCC) (S,TCT)



Context              (SEQ ID NO:4969):
GTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGT
Y
AGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTT
Celera SNP ID:                hCV2813530
SNP Position Transcript:      121
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,28|T,8)  african american(C,29|T,7)  total(C,57|T,15)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:519, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4970):
AAGAACGGCTTGGCAGCCAGTCCGGCTAAGTGGAGCTCAGAGCGGATGGGCACACACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGG
Y
CCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCATTCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAA
Celera SNP ID:                hCV25761998
SNP Position Transcript:      1442
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,14|T,2)  african american(C,21|T,3)  total(C,35|T,5)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4971):
ACACCCGCCCTGTGTGTGTCCCCTCACGCAAGTGCCAGGGCTGGGCCCCTTCCAAATGTCCCTCCAACACAGATCCGCAAGAGTAAAGGAAATAAGAGCA
K
TCACAACAGAGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGC
Celera SNP ID:                hCV2395473
SNP Position Transcript:      1497
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(T,254|G,1108) ; no_pop(T,-|G,-) ; no_pop(T,280|G,200)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4972):
AGTGAAAAATCTTAAGTACCAATGGGAAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTG
S
TGGCCTGTTTGAAAGTAAAAACCTGGTTGGCGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTG
Celera SNP ID:                hCV16183625
SNP Position Transcript:      1607
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,1145|C,331) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4973):
AAGCAGGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTG
S
TTGGCGTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACC
Celera SNP ID:                hCV15880602
SNP Position Transcript:      1633
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(G,-|C,-) ; no_pop(G,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4974):
GGGAATTCCTGGGGTAAAGTATCACTTTTCTGGGGCTGGGCTAGGCATAGGTCTCTTTGCTTTCTGGTGGTGGCCTGTTTGAAAGTAAAAACCTGGTTGG
Y
GTGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCAC
Celera SNP ID:                hCV15880601
SNP Position Transcript:      1638
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(T,-|C,-) ; no_pop(T,-|C,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4975):
TGTAGGTTCCGTATCTCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACG
R
CCACCACTGCAGCCAGGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATT
Celera SNP ID:                hCV8902386
SNP Position Transcript:      1740
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4976):
TCCCTGGAGAAGCACCAGCAATTCTCTTTCTTTTACTGTTATAGAATAGCCTGAGGTCCCCTCGTCCCATCCAGCTACCACCACGGCCACCACTGCAGCC
R
GGGGCTGGCCTTCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGAC
Celera SNP ID:                hCV16006706
SNP Position Transcript:      1755
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(A,52|G,40) ; no_pop(A,-|G,-)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4977):
TCTCCTACTTAGGGAAGAAAAAGCAAGTGTTCACTGCTCCTTGCTGCATTGATCCAGGAGATAATTGTTTCATTCATCCTGACCAAGACTGAGCCAGCTT
R
GCAACTGCTGGGGAGACAAATCTCAGAACCTTGTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAA
Celera SNP ID:                hCV8902389
SNP Position Transcript:      1867
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(A,3002|G,130) ; no_pop(A,-|G,-) ; no_pop(A,688|G,24)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Context              (SEQ ID NO:4978):
GTCCCAGCCAGTGAGGATGACAGTGACACCCAGAGGGAGTAGAATACGCAGAACTACCAGGTGGCAAAGTACTTGTCATAGACTCCTTTGCTAATGCTAT
R
CAAAAAATTCTTTAGAGATTATAACAAATTTTTCAAATCATTCCTTAGATACCTTGAAAGGCAGGAAGGGAAGCGTATATACTTAAGAATACACAGGATA
Celera SNP ID:                hCV2851394
SNP Position Transcript:      2000
SNP Source:                   dbSNP; Celera; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(A,582|G,804) ; no_pop(A,5|G,3) ; no_pop(A,-|G,-) ; no_pop(A,78|
G,42)

SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:519, None



Gene Number:                  109
Celera Gene:                  hCG2042882 - 30000054045390
Celera Transcript:            hCT2350797 - 30000054045380
Public Transcript Accession:  NM_130791
Celera Protein:               hCP1916027 - 30000054045368
Public Protein Accession:     NP_570607
Gene Symbol:                  WWOX
Protein Name:                  WW domain containing oxidoreductase
Celera Genomic Axis:          GA_x5YUV32W3V0(8985498..10110498)
Chromosome:                   16
OMIM NUMBER:                  605131
OMIM Information:             Esophageal squamous cell carcinoma, 133239 (3)


Transcript Sequence  (SEQ ID NO:259):
GCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGG
GGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGA
ACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGATT
TGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTT
TACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAA
GTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGG
CAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGAAAACAAAATACCACCCTCCGCCAGAAAAGTGCAGAATAAAAATTTTCCACTAGCAAAA
GAAGGAAAAAATAAAAGATCTTGAATAGTCTCATC


Protein Sequence     (SEQ ID NO:520):
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTK
PTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWKTKYHPPPEKCRIKIFH*



SNP Information


Context              (SEQ ID NO:4979):
CAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATC
Y
GACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGA
Celera SNP ID:                hCV25654178
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,2)  african american(C,30|T,0)  total(C,60|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:520, 98,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4980):
CCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCT
S
CAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATG
Celera SNP ID:                hCV25654177
SNP Position Transcript:      476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|G,0)  african american(C,27|G,1)  total(C,59|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:520, 117,(L,CTC) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|G,0)  african american(C,31|G,1)  total(C,67|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:520, 117,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4981):
GCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAA
W
GAAAACGAGTGGCAGGAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTA
Celera SNP ID:                hCV31816284
SNP Position Transcript:      279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:520, 52,(R,AGA) (*,TGA)



Context              (SEQ ID NO:4982):
GGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGA
Y
CTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGAAAACAAAATACCACCCTCCGCCAGAAAAGTGCAGAATA
Celera SNP ID:                hCV15971168
SNP Position Transcript:      580
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:520, 152,(I,ATC) (T,ACC)



Context              (SEQ ID NO:4983):
GTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGT
Y
AGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTT
Celera SNP ID:                hCV2813530
SNP Position Transcript:      121
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,28|T,8)  african american(C,29|T,7)  total(C,57|T,15)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:520, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:520, None



Gene Number:                  109
Celera Gene:                  hCG2042882 - 30000054045390
Celera Transcript:            hCT2350798 - 30000054045375
Public Transcript Accession:  NM_018560
Celera Protein:               hCP1916029 - 30000054045376
Public Protein Accession:     NP_061030
Gene Symbol:                  WWOX
Protein Name:                  WW domain containing oxidoreductase
Celera Genomic Axis:          GA_x5YUV32W3V0(8985498..10110498)
Chromosome:                   16
OMIM NUMBER:                  605131
OMIM Information:             Esophageal squamous cell carcinoma, 133239 (3)


Transcript Sequence  (SEQ ID NO:260):
GCAGTGCGCAGGCGTGAGCGGTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGG
GGGCCAGGTGCCTCCACAGTCAGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGA
ACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGATT
TGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTT
TACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAA
GTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGG
CAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAAACAATGACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCA
TTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGCAACTTTTGCTCTACCCTGGAGTCTCACCAAAGATGGCCTG
GAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTCCAGCTCCTCCAGGATGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCT
CCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGC
TTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAAT
ATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATGGTTTCAGACTGCCTGGTAG
AAGGAGGTCACTTCTGATTGTCAGTGACTTTGGTGAGTTCT


Protein Sequence     (SEQ ID NO:521):
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTK
PTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVETMTLDLALLRSVQHFAEAFKAK
NVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMVSDCLVEGGHF*



SNP Information


Context              (SEQ ID NO:4984):
CAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATC
Y
GACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGA
Celera SNP ID:                hCV25654178
SNP Position Transcript:      418
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,30|T,2)  african american(C,30|T,0)  total(C,60|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 98,(P,CCG) (L,CTG)



Context              (SEQ ID NO:4985):
CCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCT
S
CAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGG
Celera SNP ID:                hCV25654217
SNP Position Transcript:      969
SNP Source:                   dbSNP; Nickerson; ABI_Val
Population(Allele,Count):     no_pop(C,2726|G,250) ; no_pop(C,-|G,-) ; no_pop(C,226|G,10)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 282,(P,CCA) (A,GCA)



Context              (SEQ ID NO:4986):
CCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAA
R
CAATGACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGC
Celera SNP ID:                hCV57888
SNP Position Transcript:      660
SNP Source:                   dbSNP; Celera
Population(Allele,Count):     no_pop(A,-|G,-) ; no_pop(A,6|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 179,(T,ACA) (A,GCA)



Context              (SEQ ID NO:4987):
CCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCT
S
CAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATG
Celera SNP ID:                hCV25654177
SNP Position Transcript:      476
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,32|G,0)  african american(C,27|G,1)  total(C,59|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:521, 117,(L,CTC) (L,CTG)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|G,0)  african american(C,31|G,1)  total(C,67|G,1)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:521, 117,(L,CTC) (L,CTG)



Context              (SEQ ID NO:4988):
TGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGT
Y
GCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTC
Celera SNP ID:                hCV25654218
SNP Position Transcript:      960
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|T,0)  african american(C,36|T,2)  total(C,74|T,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 279,(R,CGC) (C,TGC)



Context              (SEQ ID NO:4989):
GCTCCTCCAGGATGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAA
S
TGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCA
Celera SNP ID:                hCV25761700
SNP Position Transcript:      948
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,38|G,0)  african american(C,36|G,2)  total(C,74|G,2)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 275,(L,CTG) (V,GTG)



Context              (SEQ ID NO:4990):
TCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCAC
R
CGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCT
Celera SNP ID:                hCV25654208
SNP Position Transcript:      1066
SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,38)  african american(A,4|G,34)  total(A,4|G,72)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 314,(R,CGC) (H,CAC)

SNP Source:                   Applera
Population(Allele,Count):     caucasian(A,0|G,40)  african american(A,4|G,34)  total(A,4|G,74)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 314,(R,CGC) (H,CAC)



Context              (SEQ ID NO:4991):
GCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAA
W
GAAAACGAGTGGCAGGAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTA
Celera SNP ID:                hCV31816284
SNP Position Transcript:      279
SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(T,-|A,-)
SNP Type:                     Nonsense Mutation
Protein Coding:               SEQ ID NO:521, 52,(R,AGA) (*,TGA)



Context              (SEQ ID NO:4992):
GGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACCGCCAAGTCTTTTGCCCTCCATGGTGCACATGTGA
Y
CTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCCAAGGTAGAAACAATGACCCTGGACCTCGCT
Celera SNP ID:                hCV15971168
SNP Position Transcript:      580
SNP Source:                   dbSNP; Nickerson; HapMap
Population(Allele,Count):     no_pop(C,-|T,-) ; no_pop(C,-|T,-) ; no_pop(C,-|T,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 152,(I,ATC) (T,ACC)



Context              (SEQ ID NO:4993):
GGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAACGCAGCAACTTTTGCT
S
TACCCTGGAGTCTCACCAAAGATGGCCTGGAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTCCAGCTCCTCCAGGATGTTTTGTGCCG
Celera SNP ID:                hCV25654189
SNP Position Transcript:      771
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,34|G,0)  african american(C,33|G,1)  total(C,67|G,1)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 216,(L,CTA) (V,GTA)

SNP Source:                   dbSNP
Population(Allele,Count):     no_pop(G,-|C,-)
SNP Type:                     Missense Mutation
Protein Coding:               SEQ ID NO:521, 216,(L,CTA) (V,GTA)



Context              (SEQ ID NO:4994):
ATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTCTCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTC
S
AAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCA
Celera SNP ID:                hCV27480383
SNP Position Transcript:      1013
SNP Source:                   dbSNP; Nickerson
Population(Allele,Count):     no_pop(C,1444|G,20) ; no_pop(C,-|G,-)
SNP Type:                     Silent Mutation
Protein Coding:               SEQ ID NO:521, 296,(S,TCC) (S,TCG)



Context              (SEQ ID NO:4995):
GTCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGT
Y
AGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTT
Celera SNP ID:                hCV2813530
SNP Position Transcript:      121
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,28|T,8)  african american(C,29|T,7)  total(C,57|T,15)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:521, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:521, None



Gene Number:                  109
Celera Gene:                  hCG2042882 - 30000054045390
Celera Transcript:            hCT2350799 - 30000054045388
Public Transcript Accession:  NM_130844
Celera Protein:               hCP1916028 - 30000054045372
Public Protein Accession:     NP_570859
Gene Symbol:                  WWOX
Protein Name:                  WW domain containing oxidoreductase
Celera Genomic Axis:          GA_x5YUV32W3V0(8985498..10110498)
Chromosome:                   16
OMIM NUMBER:                  605131
OMIM Information:             Esophageal squamous cell carcinoma, 133239 (3)


Transcript Sequence  (SEQ ID NO:261):
TCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGTC
AGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTT
TACTACGCCAAGTAAGGGGGCCGCAGTGGGGCCGCGGACGCACCTGGGACCCTGCACAGCCCACGGACGCCACCTGCGCGGGGAGGACGCGCACTCCAGC
GCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGT
CCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAA
AAATAAAGATGTTTTAAAAAGCGC


Protein Sequence     (SEQ ID NO:522):
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYAK*


SNP Information


Context              (SEQ ID NO:4996):
TCGGGCCCCGACGCGCGCGGGTCTCGTTTGGAGCGGGAGTGAGTTCCTGAGCGAGTGGACCCGGCAGCGGGCGATAGGGGGGCCAGGTGCCTCCACAGT
Y
AGCCATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTT
Celera SNP ID:                hCV2813530
SNP Position Transcript:      100
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,28|T,8)  african american(C,29|T,7)  total(C,57|T,15)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:522, None

SNP Source:                   Celera
Population(Allele,Count):     no_pop(C,14|T,2)
SNP Type:                     UTR5
Protein Coding:               SEQ ID NO:522, None



Context              (SEQ ID NO:4997):
CGGGGAGGACGCGCACTCCAGCGCAGCGCGTGCGGTGCAAAGTGAAAGTAACTGTTAAGGAGCTTCAGGGAAAAGGGTCCAGGGTTCCCAGTAGGGGCCG
S
CCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCGCGGCGCGGCGAGGGCAA
Celera SNP ID:                hCV25654161
SNP Position Transcript:      379
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,1|G,35)  african american(C,0|G,36)  total(C,1|G,71)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:522, None



Context              (SEQ ID NO:4998):
TTCCCAGTAGGGGCCGGCCCCCTTGGTGGGCCTCGGGTCCAGCGGGGGTCACCTGGTGGCTTCCCGGCGCGCCCTCTGCTGTTCAGGATGCAGCACTGCG
Y
GGCGCGGCGAGGGCAAAGCGGCCTCATCCCCGCCAAAAAATAAAGATGTTTTAAAAAGCGC
Celera SNP ID:                hCV25654168
SNP Position Transcript:      463
SNP Source:                   Applera
Population(Allele,Count):     caucasian(C,36|T,0)  african american(C,35|T,1)  total(C,71|T,1)
SNP Type:                     UTR3
Protein Coding:               SEQ ID NO:522, None

