LOCUS AF495471 8532 bp DNA linear PRI 03-APR-2002 DEFINITION Homo sapiens thrombomodulin (THBD) gene, complete cds. ACCESSION AF495471 VERSION AF495471.1 GI:19909347 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 8532) AUTHORS Rieder,M.J., Armel,T.Z., Carrington,D.P., Chung,M.-W., Lee,K.L., Ozuna,M., Poel,C.L., Toth,E.J., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (26-MAR-2002) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: SeattleSNPs. NHLBI HL66682 Program for Genomic Applications, UW-FHCRC, Seattle, WA (URL: http://pga.gs.washington.edu). FEATURES Location/Qualifiers source 1..8532 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" repeat_region 287..399 /rpt_family="AcHobo" /rpt_type=dispersed variation 393 /frequency="0.01" /replace="a" variation 970 /frequency="0.01" /replace="a" variation 1075 /frequency="0.05" /replace="a" variation 1209 /frequency="0.11" /replace="" variation 1621 /frequency="0.04" /replace="g" variation 1628 /frequency="0.01" /replace="t" variation 1849 /frequency="0.01" /replace="a" variation 1982 /frequency="0.01" /replace="t" gene 2048..6096 /gene="THBD" mRNA 2048..6096 /gene="THBD" /product="thrombomodulin" misc_feature 2348..3625 /gene="THBD" /note="Region not scanned for variation" CDS 2590..4317 /gene="THBD" /codon_start=1 /product="thrombomodulin" /protein_id="AAM03232.1" /db_xref="GI:19909348" /translation="MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPAT FLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRL GPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEV KADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPL GLQLMCTAPPGAVQGHWAREAPGAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQAD GRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQHRCEDVDDCILEPS PCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAE GFAPIPHEPHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGF CSGVCHNLPGTFECICGPDSALARHIGTDCDSGKVDGGDSGSGEPPPSPTPGSTLTPP AVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKEVVLQHV RTERTPQRL" variation 4007 /gene="THBD" /frequency="0.14" /replace="t" variation 4404 /gene="THBD" /frequency="0.03" /replace="g" variation 4475 /gene="THBD" /frequency="0.01" /replace="a" variation 4594 /gene="THBD" /frequency="0.03" /replace="a" variation 4814 /gene="THBD" /frequency="0.01" /replace="a" variation 5110 /gene="THBD" /frequency="0.40" /replace="g" variation 5318 /gene="THBD" /frequency="0.14" /replace="c" repeat_region 5547..5703 /rpt_family="MER1_type" /rpt_type=dispersed variation 5786 /gene="THBD" /frequency="0.01" /replace="t" variation 6080 /gene="THBD" /frequency="0.01" /replace="c" variation 6235 /frequency="0.24" /replace="g" variation 6310 /frequency="0.01" /replace="c" variation 6460 /frequency="0.02" /replace="t" variation 6624 /frequency="0.01" /replace="g" variation 6730 /frequency="0.01" /replace="a" variation 6867 /frequency="0.88" /replace="" variation 6899 /frequency="0.01" /replace="g" variation 7006 /frequency="0.01" /replace="c" variation 7066 /frequency="0.01" /replace="t" variation 7216 /frequency="0.01" /replace="g" repeat_region 7751..8208 /rpt_family="L2" /rpt_type=dispersed variation 8164 /frequency="0.01" /replace="c" variation 8365 /frequency="0.01" /replace="t" variation 8436 /frequency="0.01" /replace="g" ORIGIN 1 atctgcacct cctcatatag ggttgatcca agtttcacag acatcactga gttcttagtg 61 gactcagcta ttggggctgt tctcacactt tttttttctt tgcaagaatc agcaatgggt 121 gcaagtggac ctgtgtagga cgtccagtga aacattgtgt tggtgaatca gctagaatcc 181 atccaagaac tcagccagcc tggtgtgggg tgagatctga tccttgaatg tccctcagtg 241 gcttttaggg ctggcaggtt cagaagggcc ctctcatcac ccccccaggg cctcattcct 301 tgtttaacac tttgctatca cagtcttgaa tccttgtaat tgaacaatgg accccacatt 361 ttcactttgc actggtttct gattctgtaa ccgatcctgt ccccctctct tgtctcattc 421 actctgggaa ttgtccccac attctgagac ctttcagcag tgccccaacg aggttcctgc 481 ccttatctga agctccaccc tcacccccat ggcggcaccg caggcagccc tgcttttgcg 541 tcccgcgtag gcaggctgtg caccggagtc acgaccccct gattcagcct aggcagccac 601 agcttgactg ctcccgccgg acaagcccta ctgtgctatc tgccgctctt cccttcctct 661 tcccaggggg tccgcgtcag gggaggcgca gctgtgtgca ttccgggagc ttcagacccc 721 cgtgtccagc agctccttcg tttcctgggt gctggggcgg ccttcccagc gaagagctca 781 actcagcggg acgtttggag gctctctgcc ccaaggcgct ggggagtgtg cggcgggaca 841 gtcgtgcttg cctttttcac tttcagagtg tccacgcccc acccgtttgg tcactgcagg 901 tcagtccagt ccagcccggc ccaccccacc ggtgcgtgtc tgtcgcacgt ggcagacgcc 961 atactctctg ttcttgttta aagcccagga tctactgggc cctggaggca agaggtgaac 1021 gcagcggaat ccacgctgag ctgcccggga acggagcttc caaccccaga aggaggactc 1081 tgtgctccta caccttaacc ctttttagcc cgaaacttct ccaacttcct tggctttgtt 1141 tagagctcga cagcgccgcc ccctggcgct cgttgtgagg acagtagagg agagaggcaa 1201 gggtgttttt aaacagtttg cctctcacca ttatgggggc gacccgaggg ggagacccac 1261 tcttccgcat tcccggtaag tgaaccaccg gaagaggtcg aaagtgacgg attcccatgt 1321 cctcctccag cccccccccc accctgccca tccacaggac ggtggctctt cagtgccctt 1381 tgccgagcaa gtggcgtttc tatgcacgtg ggtatcaatt cggactctgg acgaaatgga 1441 aacctcctta gccgacccgg gtgggatcag ctgggatcct gcgcgctccc ctggggggtt 1501 gccagccact ctgttggggt gcaagaagca ccatccttcg gaagctgggc cgaaactggc 1561 caggctgact cgctcccacg cgcccgcccc tacccggcgc cgcagcaatt cacctgccac 1621 cgcctctgag ccgggtccgg acttcggcgc cctgacagtg tccccgcgac ttccccaccc 1681 gatgagatgg ggtctggcgt tggccagtgc gtgtccaggg actcgcgggt ccctggccag 1741 ccatggggca gagggcgctg gtgttaggcc agtcttcccc accctgcccc gtcaccccag 1801 ccacacccac tgtcctgtga ggccaagcgc gctccgctgg tttcctgagc caggcacctt 1861 ggccgcggac aggatccagc tgtctctcct tgcgatcctg tcttcgggga agtccacgtc 1921 ctaggcaggt cctcccaaag tgcccttggt gccgatcacc cctcccagcg tcttgcaggt 1981 cctgtgcacc acctccccca ctccccattc aaagccctct tctctgaagt ctccggttcc 2041 cagagctctt gcaatccagg ctttccttgg aagtggctgt aacatgtatg aaaagaaaga 2101 aaggaggacc aagagatgaa agagggctgc acgcgtgggg gcccgagtgg tgggcgggga 2161 cagtcgtctt gttacagggg tgctggcctt ccctggcgcc tgcccctgtc ggccccgccc 2221 gagaacctcc ctgcgccagg gcagggttta ctcatcccgg cgaggtgatc ccatgcgcga 2281 gggcgggcgc aagggcggcc agagaaccca gcaatccgag tatgcggcat cagcccttcc 2341 caccaggcac ttccttcctt ttcccgaacg tccagggagg gagggccggg cacttataaa 2401 ctcgagccct ggccgatccg catgtcagag gctgcctcgc aggggctgcg cgcagcggca 2461 agaagtgtct gggctgggac ggacaggaga ggctgtcgcc atcggcgtcc tgtgcccctc 2521 tgctccggca cggccctgtc gcagtgcccg cgctttcccc ggcgcctgca cgcggcgcgc 2581 ctgggtaaca tgcttggggt cctggtcctt ggcgcgctgg ccctggccgg cctggggttc 2641 cccgcacccg cagagccgca gccgggtggc agccagtgcg tcgagcacga ctgcttcgcg 2701 ctctacccgg gccccgcgac cttcctcaat gccagtcaga tctgcgacgg actgcggggc 2761 cacctaatga cagtgcgctc ctcggtggct gccgatgtca tttccttgct actgaacggc 2821 gacggcggcg ttggccgccg gcgcctctgg atcggcctgc agctgccacc cggctgcggc 2881 gaccccaagc gcctcgggcc cctgcgcggc ttccagtggg ttacgggaga caacaacacc 2941 agctatagca ggtgggcacg gctcgacctc aatggggctc ccctctgcgg cccgttgtgc 3001 gtcgctgtct ccgctgctga ggccactgtg cccagcgagc cgatctggga ggagcagcag 3061 tgcgaagtga aggccgatgg cttcctctgc gagttccact tcccagccac ctgcaggcca 3121 ctggctgtgg agcccggcgc cgcggctgcc gccgtctcga tcacctacgg caccccgttc 3181 gcggcccgcg gagcggactt ccaggcgctg ccggtgggca gctccgccgc ggtggctccc 3241 ctcggcttac agctaatgtg caccgcgccg cccggagcgg tccaggggca ctgggccagg 3301 gaggcgccgg gcgcttggga ctgcagcgtg gagaacggcg gctgcgagca cgcgtgcaat 3361 gcgatccctg gggctccccg ctgccagtgc ccagccggcg ccgccctgca ggcagacggg 3421 cgctcctgca ccgcatccgc gacgcagtcc tgcaacgacc tctgcgagca cttctgcgtt 3481 cccaaccccg accagccggg ctcctactcg tgcatgtgcg agaccggcta ccggctggcg 3541 gccgaccaac accggtgcga ggacgtggat gactgcatac tggagcccag tccgtgtccg 3601 cagcgctgtg tcaacacaca gggtggcttc gagtgccact gctaccctaa ctacgacctg 3661 gtggacggcg agtgtgtgga gcccgtggac ccgtgcttca gagccaactg cgagtaccag 3721 tgccagcccc tgaaccaaac tagctacctc tgcgtctgcg ccgagggctt cgcgcccatt 3781 ccccacgagc cgcacaggtg ccagatgttt tgcaaccaga ctgcctgtcc agccgactgc 3841 gaccccaaca cccaggctag ctgtgagtgc cctgaaggct acatcctgga cgacggtttc 3901 atctgcacgg acatcgacga gtgcgaaaac ggcggcttct gctccggggt gtgccacaac 3961 ctccccggta ccttcgagtg catctgcggg cccgactcgg cccttgcccg ccacattggc 4021 accgactgtg actccggcaa ggtggacggt ggcgacagcg gctctggcga gcccccgccc 4081 agcccgacgc ccggctccac cttgactcct ccggccgtgg ggctcgtgca ttcgggcttg 4141 ctcataggca tctccatcgc gagcctgtgc ctggtggtgg cgcttttggc gctcctctgc 4201 cacctgcgca agaagcaggg cgccgccagg gccaagatgg agtacaagtg cgcggcccct 4261 tccaaggagg tagtgctgca gcacgtgcgg accgagcgga cgccgcagag actctgagcg 4321 gcctccgtcc aggagcctgg ctccgtccag gagcctgtgc ctcctcaccc ccagctttgc 4381 taccaaagca ccttagctgg cattacagct ggagaagacc ctccccgcac cccccaagct 4441 gttttcttct attccatggc taactggcga gggggtgatt agagggagga gaatgagcct 4501 cggcctcttc cgtgacgtca ctggaccact gggcaatgat ggcaattttg taacgaagac 4561 acagactgcg atttgtccca ggtcctcact accgggcgca ggagggtgag cgttattggt 4621 cggcagcctt ctgggcagac cttgacctcg tgggctaggg atgactaaaa tatttatttt 4681 ttttaagtat ttaggttttt gtttgtttcc tttgttctta cctgtatgtc tccagtatcc 4741 actttgcaca gctctccggt ctctctctct ctacaaactc ccacttgtca tgtgacaggt 4801 aaactatctt ggtgaatttt tttttcctag ccctctcaca tttatgaagc aagccccact 4861 tattccccat tcttcctagt tttctcctcc caggaactgg gccaactcac ctgagtcacc 4921 ctacctgtgc ctgaccctac ttcttttgct cttagctgtc tgctcagaca gaacccctac 4981 atgaaacaga aacaaaaaca ctaaaaataa aaatggccat ttgctttttc accagatttg 5041 ctaatttatc ctgaaatttc agattcccag agcaaaataa ttttaaacaa aggttgagat 5101 gtaaaaggta ttaaattgat gttgctggac tgtcatagaa attacaccca aagaggtatt 5161 tatctttact tttaaacagt gagcctgaat tttgttgctg ttttgatttg tactgaaaaa 5221 tggtaattgt tgctaatctt cttatgcaat ttcctttttt gttattatta cttatttttg 5281 acagtgttga aaatgttcag aaggttgctc tagattgaga gaagagacaa acacctccca 5341 ggagacagtt caagaaagct tcaaactgca tgattcatgc caattagcaa ttgactgtca 5401 ctgttccttg tcactggtag accaaaataa aaccagctct actggtcttg tggaattggg 5461 agcttgggaa tggatcctgg aggatgccca attagggcct agccttaatc aggtcctcag 5521 agaatttcta ccatttcaga gaggcctttt ggaatgtggc ccctgaacaa gaattggaag 5581 ctgccctgcc catgggagct ggttagaaat gcagaatcct aggctccacc ccatccagtt 5641 catgagaatc tatatttaac aagatctgca gggggtgtgt ctgctcagta atttgaggac 5701 aaccattcca gactgcttcc aattttctgg aatacatgaa atatagatca gttataagta 5761 gcaggccaag tcaggccctt attttcaaga aactgaggaa ttttctttgt gtagctttgc 5821 tctttggtag aaaaggctag gtacacagct ctagacactg ccacacaggg tctgcaaggt 5881 ctttggttca gctaagctag gaatgaaatc ctgcttcagt gtatggaaat aaatgtatca 5941 tagaaatgta acttttgtaa gacaaaggtt ttcctcttct attttgtaaa ctcaaaatat 6001 ttgtacatag ttatttattt attggagata atctagaaca caggcaaaat ccttgcttat 6061 gacatcactt gtacaaaata aacaaataac aatgtgctct cgggttgtgt gtctgttcac 6121 ttttcctccc tcagtgccct cattttatgt cattaaatgg ggctcacaaa ccatgcaaat 6181 gctatgagat gcatggaggg ctgccctgta ccccagcact tgtgttgtct ggtgatggca 6241 ccatctctga ttttcaaagc tttttccaga ggctattatt ttcactgtag aatgatttca 6301 tgctatctct gtgtgcacaa atatttattt tctttctgta accataacaa cttcatatat 6361 gaggacttgt gtctctgtgc ttttaaatgc ataaatgcat tataggatca tttgttggaa 6421 tgaattaaat aaacccttcc tggggcatct ggcgaatccc agctgtgtgt ccggtgtatg 6481 gtttggcatt atctcctctg cgagatatcc aaattcactg tagtcatgaa gggtctcagt 6541 ttgtggctct cattcaaata ttcatttcta aacgtctcat ccagtatgaa atcattctca 6601 tctcttttgg agattaacaa catcatcttt tcaatgcaca cgtttcttgg gctcactttt 6661 ctaaggtggt agggctggct gaatgcaata tgcagggctc ggaaagattt tttaaagaag 6721 aaattaaaag caagtagagt ccaggcaaat attcagatgc tttatatgtc tggataatgc 6781 tgaactcatg agttttagtt tgactgatta ttgtgaagac cgggttggag attttgacat 6841 ccatcgcaga agaagtaatg gctttagtgt gtgtgtgtgt gtgtgctggg gaagctccat 6901 gcacagtgcc ctatggagat aacaagctga gccatgctcc ccctaagtag cagactaagt 6961 ctttgtgaag gaagagctac acaaatgggg gcaggacagg tgcagataaa tggggctggg 7021 agaccagagg agacagtgac accttatagt tcgccccctg ttacccagcc ttctgtttgt 7081 caaaagagtc tgctcccagt cactgtcaaa ctgacttgta gggcctcatt gcgttaggat 7141 ttcttcttat tccagaagag gggcattttc ttaaggaaca ctggaagacc aaaacacact 7201 ttcaaaacct agaggcaaaa acccttcatg cagcacttgg gccccaggac attagttgtg 7261 cggggccctg agcttccctg tcctcctcac ttcctgctgc ctgggggatc agcagttctg 7321 tttataggtc tcatctgaac ttgagattct caaaacgcta aatagccata gtgcctctca 7381 gggaaagata ccaggaccac ataaacaaat cagttagctt taaaaactat ccctgagcat 7441 ttaaaatcag gatagacctt gtgaaaccag agccatgggt caacctgtgt gatctctgct 7501 ttctgttcac atcattggac atccaggtct gagggagact cccagggacc agttgctggt 7561 gaaatttcat agcacaaaag tccggggcaa gaaagccaag gtggtatttc tggataagcc 7621 agcattcaag tttgtttgtt tgtttgtttg tttgtttttc ctagcctgct gttttaaagt 7681 aaacagaatg cattttttta agtcaaatga ctttgttatt ttttttttcc agttctcacc 7741 tatttcttag attagttcag caattattta ctgagcattt actctgtgcc tttcatagtg 7801 ataggcacaa tgacaagtcc ctaccatata agttagactc tggcagggga gaaagatgca 7861 aaacaactga tcacccccaa attgtactta acttagaaac agtgataagt gcaggggaag 7921 aaaagcacag cacactctga aaaggcgcac gaggaaggca ggatttagag tggaggacta 7981 gagggagctt cctggacaag ctgacactta acaccagacc tgaaggggaa ggaggggttt 8041 gtcaaatgca aactggaggg gaagcagtcc aggtgggaag gatcacacct gcaaaggccc 8101 tgtactggga agagccctgg tggagcggac tgggcatagt gaacaaggtg aggtgggctg 8161 caaggcagct gaagaggtgg aaagagagat acaagcagtg ggagatgact gtaggggctg 8221 taggtcaaag acactgaaaa aaagactgaa agagtgacat tgaaaaatgt tctgggtgca 8281 agtgggggca ctcaaggagt tttgatgaga gtgcactggg attcaattta tgtactgcat 8341 tgtttgggaa gataacaact acttctagat gtatttacat gtccctcttg ggcaggaacc 8401 tgcacaattt ccgctgtaag caccccgcag ggctgatatg tggtgtgaac agcatacaca 8461 cctgggtgtg accccagcct gaaacctgct ggtcacatgg ccacgggcac cacatgaccc 8521 ttcaaaggct gt //