LOCUS AF395009 6241 bp DNA linear PRI 16-JUL-2001 DEFINITION Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, complete cds. ACCESSION AF395009 VERSION AF395009.1 GI:14600281 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6241) AUTHORS Rieder,M.J., Carrington,D.P., Chung,M.-W., Lee,K.L., Poel,C.L., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (25-JUN-2001) Molecular Biotechnology, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: SeattleSNPs. NHLBI Program for Genomic Applications, UW-FHCRC, Seattle, WA (URL: http://pga.mbt.washington.edu). FEATURES Location/Qualifiers source 1..6241 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" repeat_region 1..349 /rpt_family="L2" /rpt_type=dispersed variation 45 /frequency="0.22" /replace="T" variation 145 /frequency="0.05" /replace="T" variation 255 /frequency="0.24" /replace="C" repeat_region 351..491 /rpt_family="AluSq" /rpt_type=dispersed variation 390 /frequency="0.02" /replace="A" repeat_region 495..892 /rpt_family="L2" /rpt_type=dispersed repeat_region 893..1187 /rpt_family="AluSp" /rpt_type=dispersed variation 951 /frequency="0.01" /replace="T" variation 1053 /frequency="0.49" /replace="T" variation 1131 /frequency="0.02" /replace="T" variation 1152 /frequency="0.02" /replace="A" repeat_region 1188..1215 /rpt_family="L2" /rpt_type=dispersed gene 1461..4448 /gene="GP1BA" mRNA join(1461..1496,1730..4033) /gene="GP1BA" /product="glycoprotein Ib (platelet), alpha polypeptide" variation 1529 /gene="GP1BA" /frequency="0.01" /replace="A" variation 1688 /gene="GP1BA" /frequency="0.21" /replace="T" variation 1731 /gene="GP1BA" /frequency="0.19" /replace="C" CDS 1736..3616 /gene="GP1BA" /codon_start=1 /product="glycoprotein Ib (platelet), alpha polypeptide" /protein_id="AAK71325.1" /db_xref="GI:14600282" /translation="MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPD LPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSH NQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLL TPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFL HGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYP GKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASL DSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPV PEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKS TFLTTTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFY VLGLFWLLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPR AWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGH SL" variation 2217 /gene="GP1BA" /frequency="0.10" /replace="T" variation 2218 /gene="GP1BA" /frequency="0.02" /replace="A" variation 2509 /gene="GP1BA" /frequency="0.01" /replace="T" variation 2809 /gene="GP1BA" /frequency="0.03" /replace="G" repeat_region 3908..4070 /rpt_family="L1ME4A" /rpt_type=dispersed variation 4067 /gene="GP1BA" /frequency="0.02" /replace="G" repeat_region 4077..4382 /rpt_family="AluSx" /rpt_type=dispersed variation 4157 /gene="GP1BA" /frequency="0.23" /replace="A" variation 4353 /gene="GP1BA" /frequency="0.03" /replace="T" repeat_region 4388..4676 /rpt_family="AluJb" /rpt_type=dispersed variation 4401 /gene="GP1BA" /frequency="0.07" /replace="C" variation 4448 /gene="GP1BA" /frequency="0.02" /replace="-" variation 4479 /frequency="0.01" /replace="A" variation 4562 /frequency="0.16" /replace="T" variation 4793 /frequency="0.17" /replace="T" variation 4882 /frequency="0.02" /replace="G" variation 4909 /frequency="0.40" /replace="T" variation 5160 /frequency="0.10" /replace="G" variation 5249 /frequency="0.07" /replace="G" variation 5272 /frequency="0.01" /replace="T" variation 5277 /frequency="0.03" /replace="C" variation 5587 /frequency="0.03" /replace="T" variation 5690 /frequency="0.23" /replace="A" variation 6137 /frequency="0.07" /replace="A" ORIGIN 1 tgaaagacgg gagacgttag agatgactat tagggatttt gtttgtgttg actgaatggt 61 taggtaaatg agtggatgat ggtgccactc accaggctga gcaacacagg aggagaagcc 121 atttggagag agatggtgag ttcagctttg aacatattgt tttggtgtct gtgggacatc 181 caagtagaga tgtccagaag gcagctggac atatgtgctt gtgtctcagg agaagggtct 241 ggactagaga catagatttg agagtcatta ggttgtaggt ggtggttgaa ggcaagggaa 301 tggatgagga taatctcagg tggttgcata gcgtaagaaa agaagagaat gccgggcgcg 361 gtggctcatg cctctaatcc cagcacttcg ggaagccaat gtgggtggat cacttgagat 421 gaggagttcg agaccaggct gaccaacatg gtgaaacccc gtctctacta aaaatataaa 481 aattagctgg gaatgaagac agcctaagca caaactctgg gggcagttta attgttcaag 541 aaggggaatc tatgaaggag actgagaagg cccaaccaaa caggtaagaa gaaaaccaag 601 aaaattacag ggtcatgtgt cacagaggcc aaaaggagaa tcccaagggg cgagtggcca 661 tgggtatgca ggctgccgaa ataaagtaag atcacagtgg agaagtttcc catggatgta 721 gaggagggag agcattaaag accttggtaa gaaccgagtc aatggagtag caggggaaag 781 aaatcagcat agactggggt gagaaggcag agagaaaggt gggagagaat taaaagtagg 841 caactctcag aatgcagctg tgaagaggaa gagaagcggg catctggaga ggtttttttg 901 tttttaagat ggagttttgc tcttgtcacc caggctggag tacaatggca cgatctcggc 961 tcaccgcaac ctctttccac ctcccggttt caagcgattc tcctgcctca gcctcccgag 1021 tagctgggat tacaggcatg cgccaccacg cccggctaat gtatttttag tagagacagg 1081 gtttccccgt gttggtcagg ctggtctcga actcctgact tcaggtgatc cgcccgcctc 1141 agcctcccaa agttctggga ttacaggcat gagccacgcg cccggccctg gagaggtttt 1201 taaaagatgg cagaaggctg tttggaggag tccaccccca tctcccctgt gtaaaaggaa 1261 agcggaagag agaaccacaa agagggcctg ggggaaagcc gtggagtgag gcgataaggg 1321 cttgtgtcca ggggattccc ggtcactgga atccctatca ggcctgcatt tcctcctcac 1381 ccccatcccc ttccttgcca ctggcttagt cctccatggg gctagaagag agaaggacgg 1441 agtcgagtgg caccctagaa gacgctctgt gccttcggag gtctttctgc ctgcctgtaa 1501 gccggggttg gtgctggggc aggagagggg tctgagggag gggaaagagc caaggacctg 1561 gagctagtag ttttaagttc tgcaggcaag ggtgggagat gggagtaggg aggacaggag 1621 gtgtggatgc tgtttctgga agcgaagctg cagggggaag ggggctgggg cctgggggga 1681 tgcttccagg ggatgcaggg ggatccactc aaggctccct tgcccacagg tcctcatgcc 1741 tctcctcctc ttgctgctcc tgctgccaag ccccttacac ccccacccca tctgtgaggt 1801 ctccaaagtg gccagccacc tagaagtgaa ctgtgacaag aggaatctga cagcgctgcc 1861 tccagacctg ccgaaagaca caaccatcct ccacctgagt gagaacctcc tgtacacctt 1921 ctccctggca accctgatgc cttacactcg cctcactcag ctgaacctag ataggtgcga 1981 gctcaccaag ctccaggtcg atgggacgct gccagtgctg gggaccctgg atctatccca 2041 caatcagctg caaagcctgc ccttgctagg gcagacactg cctgctctca ccgtcctgga 2101 cgtctccttc aaccggctga cctcgctgcc tcttggtgcc ctgcgtggtc ttggcgaact 2161 ccaagagctc tacctgaaag gcaatgagct gaagaccctg cccccagggc tcctgacgcc 2221 cacacccaag ctggagaagc tcagtctggc taacaacaac ttgactgagc tccccgctgg 2281 gctcctgaat gggctggaga atctcgacac ccttctcctc caagagaact cgctgtatac 2341 aataccaaag ggcttttttg ggtcccacct cctgcctttt gcttttctcc acgggaaccc 2401 ctggttatgc aactgtgaga tcctctattt tcgtcgctgg ctgcaggaca atgctgaaaa 2461 tgtctacgta tggaagcaag gtgtggacgt caaggccatg acctctaacg tggccagtgt 2521 gcagtgtgac aattcagaca agtttcccgt ctacaaatac ccaggaaagg ggtgccccac 2581 ccttggtgat gaaggtgaca cagacctata tgattactac ccagaagagg acactgaggg 2641 cgataaggtg cgtgccacaa ggactgtggt caagttcccc accaaagccc atacaacccc 2701 ctggggtcta ttctactcat ggtccactgc ttctctagac agccaaatgc cctcctcctt 2761 gcatccaaca caagaatcca ctaaggagca gaccacattc ccacctagat ggaccccaaa 2821 tttcacactt cacatggaat ccatcacatt ctccaaaact ccaaaatcca ctactgaacc 2881 aaccccaagc ccgaccacct cagagcccgt cccggagccc gccccaaaca tgaccaccct 2941 ggagcccact ccaagcccga ccaccccaga gcccacctca gagcccgccc ccagcccgac 3001 caccccggag cccaccccaa tcccgaccat cgccacaagc ccgaccatcc tggtgtctgc 3061 cacaagcctg atcactccaa aaagcacatt tttaactacc acaaaacccg tatcactctt 3121 agaatccacc aaaaaaacca tccctgaact tgatcagcca ccaaagctcc gtggggtgct 3181 ccaagggcat ttggagagct ccagaaatga cccttttctc caccccgact tttgctgcct 3241 cctccccctg ggcttctatg tcttgggtct cttctggctg ctctttgcct ctgtggtcct 3301 catcctgctg ctgagctggg ttgggcatgt gaaaccacag gccctggact ctggccaagg 3361 tgctgctctg accacagcca cacaaaccac acacctggag ctgcagaggg gacggcaagt 3421 gacagtgccc cgggcctggc tgctcttcct tcgaggttcg cttcccactt tccgctccag 3481 cctcttcctg tgggtacggc ctaatggccg tgtggggcct ctagtggcag gaaggaggcc 3541 ctcagctctg agtcagggtc gtggtcagga cctgctgagc acagtgagca ttaggtactc 3601 tggccacagc ctctgagggt gggaggtttg gggaccttga gagaagagcc tgtgggctct 3661 cctattggaa tctagttggg ggttggaggg gtaaggaaca cagggtgata ggggaggggt 3721 cttagttcct ttttctgtat cagaagccct gtcttcacaa cacaggcaca caatttcagt 3781 cccagccaaa gcagaagggg taatgacatg gacttggcgg ggggacaaga caaagctccc 3841 gatgctgcat ggggcgctgc cagatctcac ggtgaaccat tttggcagaa tacagcatgg 3901 ttcccacatg catctatgca cagaagaaaa tctggaaagt gatttatcag gatgtgagca 3961 ctcgttgtgt ctggatgtta caaatatggg tggttttatt ttctttttcc ctgtttagca 4021 ttttctagtt ttccactatt attgtatatt atctgtataa taaaaaataa ttttagggtt 4081 gggagtgatg gctcatgcct gtaatcctag cactttggga ggccgaggcg ggtggatcac 4141 cagaggtagg gagttcgaga ccagcctggc aaacatggtg aaaccctgtc tctactaaaa 4201 atacaaaaat tagccaggcg tggtggtgca cacctataac cccagctact cgggagggtg 4261 gggcaggaga atcgcttgaa cctgggaggc ggaagttgcc gtgagccaag atcgtaccac 4321 tgaactccag cctgggtaac agagtgagac tccgtctaaa aaaaaaaaaa aaaaaaaaaa 4381 aacttctggc cgggtgcagg ggctcatgcc tgtaattcca gcactctgga aggctgaggc 4441 gggtgggttg cttgaaccca ggagtttggc ccaggcttgg caacatggca aaacccgacc 4501 tctacaaaaa atacaaaaca ttagccaggt gtggtggcat gcacctgtgg tcccaggtac 4561 ccgggtggct gaggagggag gatcacctga gcctgggaga tggaggctgc agtgagccct 4621 gaaggtgcca ctgtactcca gcctgggtga cagagtgaga gcctgtctca aaacaacttg 4681 gcttcttttg gtgaagagtg gctggggcac ctgtcatgag aattcacaag gctccaaatg 4741 ccctaccctg gtcacaacta cttatccaat agacctccag ttacagccta cacttcccct 4801 gcctggggtg cctcctctcc tccagggctg gccacccacc aggccacccc aggcatcaga 4861 tccagctcaa aaattgcctt cctggagttt aatgacaact gctgggacct acctggcagc 4921 agcctgcagt actaggggca aaggtgggtg cctgctttgc acctgcagcc tcagaagtgc 4981 agctctcctc actgcccagg tcagcaggac agcaaggggt ggaccctgca gcatgcacca 5041 tcttggtgtg actgaatagt cttgggtttc ctgctctcag gctgggacac aggcaaatgg 5101 aaccccattt cttttctcat aaatcctgcc attctctaaa cacactggtg tggcttcctc 5161 tcctgccttg tctccagccc aatccaaggc ttggggccca gagaatggga ctatggagac 5221 ccccatcccc ctccagatgg tcctgaagat ctcccaaacc tgaaagtctg accgaatctc 5281 tccccaggtg gaggaccaac tcctgagctt ggcagtcagg gagtgccaag cactgacccc 5341 atctgacagt ccagcttcat ctcaagggag atacctcaca gtctgtgctc caactatcac 5401 aagcctatag atcacctgct ccccaacagt gttttactct aagcctttgc cctcagtcca 5461 gccaggtgtg ctatccttgc cccatcccca gccagtctaa ccactcagtc tgcaagtcac 5521 tactcccagg cgaggccagg tgctccaagt taccctgcaa cactattgct acactcagtt 5581 tcccaactgc tcctgtataa tcttgtcttc tggaccagga actccttaag gacaaggtct 5641 aggcttcagg catctcacaa tagccaccaa ggcgcaggac agtgtacacg gaggcagcag 5701 caggggcgcc aggatgctga gctccacctc ttctgctgat gaggctctgc caaagggaca 5761 gctcccacct gctgcctgcc tgtcccctag cctggcaagc actcctcagt ttgaccttcc 5821 caaactctct tgtgccccaa gaggttttaa ggctccttga aggctggcct gggaaccaca 5881 catcttctaa agaaatggac aaggttctca ctctccccag ccaaggaccc agatcaggtc 5941 tctggccagc attccccttt cctcaagctt ccagtgccca cccacttaag ccctggcctt 6001 ccacctgcac tgcctccagc ccacagtggt ctgacttcct ctctaagtct ctttatttcc 6061 tccctcttta ggctgcagaa gcagtcatca gaccgagggg cttttcctgg ggattatgtg 6121 agatgatctg ggcatcggtg gcattcttgg gcgagtggct ggaggaaaca caccgggcct 6181 gggatttgag tttttctggc cctgtcagct gctgtggcat gacagattta tacagcattt 6241 g //