LOCUS ANGPTL3 11294 bp DNA linear PRI 08-MAR-2004 DEFINITION Homo sapiens. ACCESSION ANGPTL3 VERSION TMP 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 11294) AUTHORS Rieder,M.J., Daniels,R.L., da Ponte,S.H., Hastings,N.C., Ahearn,M.O., Rajkumar,N., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (08-MAR-2004) 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..11294 /organism="Homo sapiens" /db_xref="taxon:9606" repeat_region 101..395 /rpt_family="Alu" /rpt_type=dispersed variation 393 /frequency="0.01" /replace="C" repeat_region 567..811 /rpt_family="MIR" /rpt_type=dispersed variation 686 /frequency="0.50" /replace="T" repeat_region 998..1104 /rpt_family="Alu" /rpt_type=dispersed variation 1957 /frequency="0.09" /replace="T" gene 2002..9357 /gene="ANGPTL3" mRNA join(2002..2512,3147..3257,5533..5647,6220..6333, 6736..6831,8420..8686,9084..9357) /gene="ANGPTL3" /product="ANGPTL3" CDS join(2018..2512,3147..3257,5533..5647,6220..6333, 6736..6831,8420..8686,9084..9268) /gene="ANGPTL3" /codon_start=1 /product="ANGPTL3: angiopoietin-like 3" /translation="MFTIKLLLFIVPLVISSRIDQDNSSFDSLSPEPKSRFAMLDDVK ILANGLLQLGHGLKDFVHKTKGQINDIFQKLNIFDQSFYDLSLQTSEIKEEEKELRRT TYKLQVKNEEVKNMSLELNSKLESLLEEKILLQQKVKYLEEQLTNLIQNQPETPEHPE VTSLKTFVEKQDNSIKDLLQTVEDQYKQLNQQHSQIKEIENQLRRTSIQEPTEISLSS KPRAPRTTPFLQLNEIRNVKHDGIPAECTTIYNRGEHTSGMYAIRPSNSQVFHVYCDV ISGSPWTLIQHRIDGSQNFNETWENYKYGFGRLDGEFWLGLEKIYSIVKQSNYVLRIE LEDWKDNKHYIEYSFYLGNHETNYTLHLVAITGNVPNAIPENKDLVFSTWDHKAKGHF NCPEGYSGGWWWHDECGENNLNGKYNKPRAKSKPERRRGLSWKSQNGRLYSIKSTKML IHPTDSESFE" misc_feature 2089..2244 /gene="ANGPTL3" /note="Region not scanned for variation" variation 2610 /gene="ANGPTL3" /frequency="0.09" /replace="C" variation 2953 /gene="ANGPTL3" /frequency="0.01" /replace="C" repeat_region 3369..3551 /rpt_family="MIR" /rpt_type=dispersed repeat_region 3549..4142 /rpt_family="L2" /rpt_type=dispersed repeat_region 4685..4812 /rpt_family="MIR" /rpt_type=dispersed variation 5424 /gene="ANGPTL3" /frequency="0.02" /replace="C" repeat_region 5703..5967 /rpt_family="L1" /rpt_type=dispersed variation 5743 /gene="ANGPTL3" /frequency="0.03" /replace="T" variation 5987 /gene="ANGPTL3" /frequency="0.01" /replace="C" variation 6355 /gene="ANGPTL3" /frequency="0.01" /replace="C" variation 6390 /gene="ANGPTL3" /frequency="0.01" /replace="G" repeat_region 6853..6949 /rpt_family="L2" /rpt_type=dispersed variation 7079 /gene="ANGPTL3" /frequency="0.02" /replace="A" misc_feature 7225..7368 /gene="ANGPTL3" /note="Region not scanned for variation" variation 7937 /gene="ANGPTL3" /frequency="0.02" /replace="C" variation 8015 /gene="ANGPTL3" /frequency="0.01" /replace="A" variation 8491 /gene="ANGPTL3" /frequency="0.10" /replace="C" variation 8797 /gene="ANGPTL3" /frequency="0.01" /replace="A" variation 8800 /gene="ANGPTL3" /frequency="0.01" /replace="" misc_feature 9139..9299 /gene="ANGPTL3" /note="Region not scanned for variation" variation 9318..9326 /gene="ANGPTL3" /frequency="0.43" /replace="" variation 10714 /frequency="0.01" /replace="A" variation 11045 /frequency="0.42" /replace="A" variation 11125 /frequency="0.01" /replace="T" BASE COUNT 4141 a 1905 c 1564 g 3684 t ORIGIN 1 tgtaactatt atacccaaaa cccttaatcc taagtcatca aaaggaagag cctctatttt 61 acacaatgaa gaggcatttc taagaataga aatttaggga cgagcacagt ggcttactcc 121 tttaatatca gcactttgag aggctgatat gggaggttca cttgaagtca ggagttcaag 181 gtcagcttgg gcaacatagt gaaacacagt ctctacaaaa tatttaaaaa ttagctgggt 241 gtggtggcat gcatctatag tctcagctac ttgggagaca gagggaggag gcttgctcga 301 gcccaggagt tcgtggctat agtgagctat gatcatgcca ctgcactcca gcctggacaa 361 cagagcaaga ccctgtctct aaaaaagaaa agaaatttgg aaatggttta ttttgtatta 421 acaatttata atttacactg aaatttatta tgataaaact tttccctgtg ttaaaaagct 481 attaacttta tgaaaaattt cttttaggta aggttgatta tatataccca cacacataca 541 caggttaaaa gttagtttca tgtgacataa taactagcat tttgagcact acctgtttgc 601 ccagcactgt tctaagtgct ctacatgtat tattgttaaa ttatcataac actatgaatt 661 atgtactata attaccccag ctttacagat gaggagacta atccatgggg aggttaagta 721 acttgtccaa ggccagacag ctagagccgg cttttggacc cacaccacag tctgactcca 781 gcacccatat tcttaacaat ttcaccatat taatatgtca agattaagca gttttaaagg 841 atgctatttt ctcacaaatt tcttaatatg aacactcaat aagaataatc actaatataa 901 gcatttagta tttttttaac actaagttgg aagcatagtg gaacatttat ttttagaaat 961 attattaatt ggctgggctc acgcttgtaa tcggctgggc tcatgcctgt aaattttggg 1021 aggccaaggt aaaagaattg cttgagccca gtatttccag accagcatgg gcaatacatt 1081 aagacatcat ctttaaaaaa aaaatgttat taatctcctc tttttgttaa atgtatatta 1141 tcaaaattgt tactaagcta acaaacttca gaaaaactta tgatgggcaa gctgcttgtg 1201 acattgaagg tatttaagat tcaattctag tttggtccta gatgaccaca tatccattgt 1261 tccttcaacg agcacatggt aaagagccta gaacacagag acacagaaca cagtggagaa 1321 aagggagtga aatgtcttta atgacactta ctatatatgg gattttgtga caatatacaa 1381 ggatggttaa gacatataag gtgatgcaaa aaaacatatt aacaattata gtgacaaaaa 1441 atgaggagca tataattata cattgattta tacagagtac cagaggaaca cagcattgag 1501 agccgtaaca ccacctgagg gagtggagaa aggcttcaga gagaaagtgt tttttggaat 1561 ggatcactgt ttccaaaaga actaaagtac agtttgagaa atgcatactt aattcattac 1621 ttttttcccc tcaactttaa taataaattt acccaacaaa aaagtttatt tttgacttgt 1681 aaatctctta aaatcataaa aaagtaaaat tagcttttaa aaacaggtag tcaccatagc 1741 attgaatgtg tagtttataa tacagcaaag ttaaatacaa tttcaaatta cctattaagt 1801 tagttgctca tttctttgat ttcatttagc attgatctaa ctcaatgtgg aagaaggtta 1861 cattcgtgca agttaacacg gcttaatgat taactatgtt cacctaccaa ccttaccttt 1921 tctgggcaaa tattggtata tatagagtta agaagtctag gtctgcttcc agaagaaaac 1981 agttccacgt tgcttgaaat tgaaaatcaa gataaaaatg ttcacaatta agctccttct 2041 ttttattgtt cctctagtta tttcctccag aattgatcaa gacaattcat catttgattc 2101 tctatctcca gagccaaaat caagatttgc tatgttagac gatgtaaaaa ttttagccaa 2161 tggcctcctt cagttgggac atggtcttaa agactttgtc cataagacga agggccaaat 2221 taatgacata tttcaaaaac tcaacatatt tgatcagtct ttttatgatc tatcgctgca 2281 aaccagtgaa atcaaagaag aagaaaagga actgagaaga actacatata aactacaagt 2341 caaaaatgaa gaggtaaaga atatgtcact tgaactcaac tcaaaacttg aaagcctcct 2401 agaagaaaaa attctacttc aacaaaaagt gaaatattta gaagagcaac taactaactt 2461 aattcaaaat caacctgaaa ctccagaaca cccagaagta acttcactta aagtaagtag 2521 aaaataaaga gggttcatgt ttatgttttc aatgtggatc ttttaaaaaa aatatttcta 2581 aggcatgcca tttgaaatac tttgttgcat tgttgaaata cttttttttc caagaaaaat 2641 aatctccaga aaataaaatt tcctattata atttcaagtt agttttttgt ttccctaatg 2701 ttatatatga aaacactgaa aatttgcatt ttatatgaaa attacaaatc ggttaaatta 2761 tacaatctag aacactatgt cattacacta ttgtaaatta ctgaaggtaa gtaaaaagtt 2821 aaaaaaaatt taaaactatt ctccagtgtt taaaacagat taaataatac agtaaatgga 2881 aaagatttat tcatatgaaa atatgctggg ctttttcttt taattgaagt tcagaaaatc 2941 aaattttaga gatagtacaa tttaaataaa atgttaagga caaaaatatg tgctatttga 3001 aagaagcata caaggggaag gaattgccaa tattcatttt tcaaatccat tattagttta 3061 aaaatttaga ttatgatagt gttacaggaa attaatagaa aagaaagagg aaagcaactt 3121 ataaccaacc tactctctat atccagactt ttgtagaaaa acaagataat agcatcaaag 3181 accttctcca gaccgtggaa gaccaatata aacaattaaa ccaacagcat agtcaaataa 3241 aagaaataga aaatcaggta agtcagtatt ttaatggtat gtcccatctt tcacacaggt 3301 ctgtaaaaac actgaatcct aaaattattt acaagcttta actggatcat gagtaaaatt 3361 atcacatcag cataactgtt aaaattgcag gctctgaagc taataaacta cctgcattta 3421 aaccatggct ctaaaacttt gtgtgacctt gaataaatta cttcacccct ttatctctca 3481 gtttcctcac atatactaca aagataataa cagaacttat aggattattg taagaaaaaa 3541 aattaattca tagcagccaa tgtcatctta ctaaaattca aattagatca tgtttctctt 3601 tgctcaaaac cacacaatag ctttccattt cactcatatt ggctctttag accaagatta 3661 cccaaccctt cgtcatctca ctgacttcac ctcctctact ctagttattc tgaccgcttt 3721 accagtattc aaacacatca aacatactgc cacctcaaag cctttgccct tgttgtttcc 3781 tctaactgga acgctcttct gccctggtat ctacgtggcc cactctctga tttcccttag 3841 ggtcgttatc aaacaaaaaa ttcccaatga agacttacaa ggtcacttaa ccaaaaatca 3901 caaccgcctg gtcccatccc tgaaaacttc tacttcctta gctacttttc tcctgcacac 3961 tcacctttat ttaacataac ataaatttta gttatttatc tcttctattc ctgcactaaa 4021 atgtaagctc tgtgaataca gggatttttt ccattatctt catattttcc attatttgta 4081 tatactccag aatatagaat actgtatggc acacagtagg catttctgtt gaattaataa 4141 atgtaatgtc atattcacac agaagcgtgt gctatgatta ttattacttg gattactaga 4201 aatagtgtgc ctcataatta aaggtcaaca ttcaacaatg taattaatct acaatgtaaa 4261 catctggtga agtgacagag ggaagcactt gtttagaaaa aagctatgtc agaatccatg 4321 tattctaata tgcagtacaa tagtttaaaa atattaataa tactctcaaa cagctattca 4381 agaggattca aaaaacataa tataaactca gagaaactgg taaacaaaat cattttcaag 4441 agatataaaa caaatattat taccaatttc cactaaacaa acataatgtt agtagtgctg 4501 ctaaaaggtt ttttatcaac tacttttggt ttccatactt tccttcttat gatgttatta 4561 ttctaaattc ttttcaatta tatcttttac tatgattaaa tgaacctgct ccccaaagca 4621 aaatgttact atagtaatat acattgtgtc taaaaataaa aatgtgtgaa gaaaccaaaa 4681 caatgaattt ctgagttgga agaagagtta gatcatttaa ctttctcata tttaaattaa 4741 aaaaacaaaa ctctaaaaat ttaagtaact ttaagatcac atagttactt agtagaaaag 4801 agtaataccc agcaagcaaa ctttacaata gatcctttta aataaggtcc taggaaatat 4861 cattcatgcc agcatcaaaa aactaacact aataatgcaa gatattatat attctgcttt 4921 tcttactgtc aatgagaaaa actatcattc aataaattgc aaacccaaca cacttaaata 4981 aaaataaaat gttactgcta aactaacgat aaactactga atatatagaa agtaagcaaa 5041 caaacttgcc aacctgccaa catctacaga tatgtttaca ggtcaaaaat tatcaaatta 5101 tcaagaaagc ctggttcaaa ttatgtatta tgtctttatc acaggtctga agatcagtaa 5161 gacctaaaac tgaaaattat taaacttaaa atctgaacag aatatcaaat atattttatt 5221 catataaata aaagaataca ttacaatatt ctaagcaaag cagtctctac ttttggcctt 5281 gctctgtttt ccgaccaatg tctgcttttt tgccttgctt tattttttta tcttattaaa 5341 taatgtccct gattaaatat tttgagaaca ggtaatctgt acaatctgaa taacactgtt 5401 tatctaaata tcaaacaccg ttataacatt atgaactgaa agacaaactg tacttctgac 5461 atccttactc agatttcccc taattgtata ttcagtatca ttttaaaaaa cagatttata 5521 ttcttttatc agctcagaag gactagtatt caagaaccca cagaaatttc tctatcttcc 5581 aagccaagag caccaagaac tactcccttt cttcagttga atgaaataag aaatgtaaaa 5641 catgatggta agacactttg gtgggtttcc ttcttgaagc tattattatc aaattcccta 5701 ttcttaggac ttgttctaga ctaaaagata gttaagagat atccatcaaa tacaatgtat 5761 caacctaaac tggatgctgg ggttcttttt acaccctata aaagacatac ctaagacaat 5821 cagagaaata caaatatgga cttgattatt agataatata gaaggtttat taattttctt 5881 agatgtgatc atggtattgc agttttaaag gagaacaatc tcctgtttaa gagatacatg 5941 ctgaaatatt tacggagtta aaggtcactg gactccagac tggtgataga acaagactct 6001 gtctctaaaa aataattaat tttttaaaag aaaatagttt ggtaagatga ttcttacatt 6061 cttaaataac acgccatcta agaaaaatgc tttaacataa acattactga aaaaatgcta 6121 catttgccac aacttcataa aatgtcaagt gaaatctcaa gctccaaaga tattattcct 6181 attactaaat ctgatgtaat aacattttat tgattctagg cattcctgct gaatgtacca 6241 ccatttataa cagaggtgaa catacaagtg gcatgtatgc catcagaccc agcaactctc 6301 aagtttttca tgtctactgt gatgttatat caggtaaaac ctgtctaagg agaatagaca 6361 gtagttagtt caacttactc attacgtatt aggaagatta acctggttat cattgtttta 6421 tacatatata tatgaaatat atatgagtat tcgtataaat ataatacttt taccttgttt 6481 atgtatttac tcaatattct ccttttcctc taaaataatc tgaagtgact attatcaata 6541 agtttactat gccaaaattc attaattgcc tttcacttaa cttttgggac cataataaat 6601 aataaaatgt attgccataa cattaataaa ctaccttaca aaaccaccaa ttaaaatcaa 6661 acaaacaaaa aagtgttatt tacatctgtc aacataaatc tactaaaaat acatgatttc 6721 attcattata ttcaggtagt ccatggacat taattcaaca tcgaatagat ggatcacaaa 6781 acttcaatga aacgtgggag aactacaaat atggttttgg gaggcttgat ggtaagggga 6841 ctacattcaa tcattcattc acttgctaat ctacaaatat ttactgagaa cctcttatgg 6901 accaggtatt aggaaaagta gtaacgaacg agaagcagtc tcagccttca tataatttat 6961 tatcaaacaa ttacacattt gttagtaaat tacacttatt acaactgtta ttatttgaat 7021 tatatttatc acaattacat gtctgttctt aaatatactt atcacaattt aattccacgg 7081 cttacaatga tcataactat aattattaaa gacaattttg attaaatgtt atgtcataag 7141 tagtaactgt tacaaataag ctgtgaaaag aaccactcct agcattagtc actctattct 7201 ctcattaacg ttttacatat caattaattg gaagttaaaa ggaccaggaa actcagacat 7261 acagtataca ttttaaaatt tcaattattt aaatataata tatagaatgt atggcttata 7321 atgaattagt taactcaatg caaattattc tattttgatt acaaatagta aaataagcaa 7381 gataaaataa cagatgttta aaatccaaaa agcacataca aaaatccatg aatgatgtct 7441 aagtactcac ttataaagta gaagacattc attattatat caaattttta aatgctcagt 7501 actatttgac catttaaaaa ttttgtattc aaactaccag tgaaagccct acctagaagg 7561 tatactcagt gataagtttt gtagctccaa atcttctaat agtgagtgta accccaaaat 7621 aaaaggctga caggtaagtc gagaatactc acttaattct ggtaagaaag caacccattt 7681 gtacttgtat ttaccagcaa tccttaaaat gaagcttcct actaactcaa tagcaataag 7741 acaatagtga atgtttaatg aaaacagtat tttataaata ctttaataaa aaggattgtg 7801 atgaagaaca atctatttat atttgttatt tgtttttaat tccaataaaa ataattttta 7861 aaattacaga aaaaagttat taagaaccat gcttttaaat ttaaaatgat tttttaaatt 7921 tattcctgtc tttttctaca aagaaagcat acattaagca aataccaaag gccaggttta 7981 catttgaaga aagtgacatt attattactc aagtctctag gaatacttaa cacatctctt 8041 gactgtatat ggatgttaat aaatagctga cagtaaagtt tatccatata aagacttgca 8101 aatattcctc taccaatgac gagactttaa aatatctata ataatgtaac acatttcact 8161 ggtgaaacat gtcttgtcat atgcattata gaaaggataa tcagactttc agttatatta 8221 atatttttaa catttttgtg cacatagcta tcttcaataa aattgtttta aaaggtatta 8281 ttttaagata cactaaaatg atcaagggat tcaagactaa acaactcaat tagttgcacc 8341 aataaaaaac acttaaaaaa actgtcagtg tccaacctgt acttaataac tcacagattt 8401 ttaaaacttt tcttttcagg agaattttgg ttgggcctag agaagatata ctccatagtg 8461 aagcaatcta attatgtttt acgaattgag ttggaagact ggaaagacaa caaacattat 8521 attgaatatt ctttttactt gggaaatcac gaaaccaact atacgctaca tctagttgcg 8581 attactggca atgtccccaa tgcaatcccg gaaaacaaag atttggtgtt ttctacttgg 8641 gatcacaaag caaaaggaca cttcaactgt ccagagggtt attcaggtat ctttttctga 8701 taccaatact ttattttcat atcttcaaag tatcttccca cattattagc tattatctgc 8761 aatgacaact tttaaaaatc cgaatcccaa ataagcgttt tctctctaga cgaaaacctc 8821 ttaactataa tgaaagtgtt cattctagtt caatcaggta ttttacctct aatcttcctc 8881 agattttcta ttttttggta gtgtatagat tatttataca gattatttaa aattgggact 8941 tatacagatt atttaaaact gggatacatg catctaaaac actgtaatat ttataagaaa 9001 ggaagataaa cttacgggga aatacagtaa cagtaactac atacgagtct gtacccatta 9061 aattgcatat ctatctcctt taggaggctg gtggtggcat gatgagtgtg gagaaaacaa 9121 cctaaatggt aaatataaca aaccaagagc aaaatctaag ccagagagga gaagaggatt 9181 atcttggaag tctcaaaatg gaaggttata ctctataaaa tcaaccaaaa tgttgatcca 9241 tccaacagat tcagaaagct ttgaatgaac tgaggcaaat ttaaaaggca ataatttaaa 9301 cattaacctc attccaagtt aatgtggtct aataatctgg tattaaatcc ttaagagaaa 9361 gcttgagaaa tagatttttt ttatcttaaa gtcactgtct atttaagatt aaacatacaa 9421 tcacataacc ttaaagaata ccgtttacat ttctcaatca aaattcttat aatactattt 9481 gttttaaatt ttgtgatgtg ggaatcaatt ttagatggtc acaatctaga ttataatcaa 9541 taggtgaact tattaaataa cttttctaaa taaaaaattt agagactttt attttaaaag 9601 gcatcatatg agctaatatc acaactttcc cagtttaaaa aactagtact cttgttaaaa 9661 ctctaaactt gactaaatac agaggactgg taattgtaca gttcttaaat gttgtagtat 9721 taatttcaaa actaaaaatc gtcagcacag agtatgtgta aaaatctgta atacaaattt 9781 ttaaactgat gcttcatttt gctacaaaat aatttggagt aaatgtttga tatgatttat 9841 ttatgaaacc taatgaagca gaattaaata ctgtattaaa ataagttcgc tgtctttaaa 9901 caaatggaga tgactactaa gtcacattga ctttaacatg aggtatcact ataccttatt 9961 tgttaaaata tatactgtat acattttata tattttaaca cttaatacta tgaaaacaaa 10021 taattgtaaa ggaatcttgt cagattacag taagaatgaa catatttgtg gcatcgagtt 10081 aaagtttata tttcccctaa atatgctgtg attctaatac attcgtgtag gttttcaagt 10141 agaaataaac ctcgtaacaa gttactgaac gtttaaacag cctgacaagc atgtatatat 10201 gtttaaaatt caataaacaa agacccagtc cctaaattat agaaatttaa attattcttg 10261 catgtttatc gacatcacaa cagatcccta aatccctaaa tccctaaaga ttagatacaa 10321 attttttacc acagtatcac ttgtcagaat ttatttttaa atatgatttt ttaaaactgc 10381 cagtaagaaa ttttaaatta aacccatttg ttaaaggata tagtgcccaa gttatatggt 10441 gacctacctt tgtcaatact tagcattatg tatttcaaat tatccaatat acatgtcata 10501 tatattttta tatgtcacat atataaaaga tatgtatgat ctatgtgaat cctaagtaaa 10561 tattttgttc cagaaaagta caaaataata aaggtaaaaa taatctataa ttttcaggac 10621 cacagactaa gctgtcgaaa ttaacgctga tttttttagg gccagaatac caaaatggct 10681 cctctcttcc cccaaaattg gacaatttca aatgcaaaat aattcattat ttaatatatg 10741 agttgcttcc tctatttggt ttccttaaaa aaaaaaaaaa ctctcatagg acatgtttca 10801 ttttgttcct ttcaggagta gtaaattaga cgttttcccc atataaagct tttttctacc 10861 agaaagatac ttctggtaga agaagagaaa ggagctcttt atggttcaca cgactgtctc 10921 ctgtcctaac tactttgctt aaagtgctca aattccatca ctactcacag ttgtctaatc 10981 taagtctaat cccctttgat ctctcagact accttccctt ttatctctct actacttaat 11041 aatacgaata tctttttttc aaacttgacc ttcattttgc tttcacaata ctatactctc 11101 catggattat cccttatctg aatccatctt tataacccta ttcctttctc atatttagta 11161 ctgtgggcca atggacaacc ttcaatcatc ttttctacac tgaccctcag acattctatc 11221 tgctctcacg gactccttta tttaccatga ataaagttcc aaaatctaca tattcatccc 11281 aagtctcttt ccag //