LOCUS APOA1 5329 bp DNA linear PRI 19-SEP-2003 DEFINITION Homo sapiens. ACCESSION APOA1 VERSION APOA1 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 5329) AUTHORS Nickerson,D.A., Smith,J.D., Fullerton,S.M., Clark,A.G., Stengard,J.H., Salomaa,V., Boerwinkle,E., Sing,C.F. and Weiss,K.M. TITLE Direct Submission JOURNAL Submitted (02-APR-2003) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA FEATURES Location/Qualifiers source 1..5329 /organism="Homo sapiens" /db_xref="taxon:9606" variation 206 /frequency="0.28" /replace="C" repeat_region 308..447 /rpt_family="MIR" /rpt_type=dispersed variation 533 /frequency="0.03" /replace="T" repeat_region 618..723 /rpt_family="MIR" /rpt_type=dispersed variation 631 /frequency="0.11" /replace="G" variation 1049 /frequency="0.07" /replace="A" variation 1128 /frequency="0.20" /replace="T" repeat_region 1233..1542 /rpt_family="Alu" /rpt_type=dispersed variation 1308 /frequency="0.19" /replace="T" variation 1407 /frequency="0.99" /replace="" variation 1541 /frequency="0.01" /replace="T" variation 1546 /frequency="0.49" /replace="G" repeat_region 1593..1666 /rpt_family="MIR" /rpt_type=dispersed variation 1598 /frequency="0.08" /replace="G" variation 1620 /frequency="0.30" /replace="G" variation 1717 /frequency="0.01" /replace="C" variation 1749 /frequency="0.05" /replace="C" variation 2077 /frequency="0.05" /replace="A" variation 2198 /frequency="0.05" /replace="G" variation 2373 /frequency="0.16" /replace="C" variation 2376 /frequency="0.08" /replace="T" gene 2499..4368 /gene="APOA1" mRNA join(2499..3157,3747..3903,4089..4155,4347..4368) /gene="APOA1" /product="APOA1" CDS complement(join(2554..3157,3747..3903,4091..4133)) /codon_start=1 /product="apolipoprotein A-I" /translation="MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVD VLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKE TEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA KATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ" variation 3220 /gene="APOA1" /frequency="0.12" /replace="A" variation 3368 /gene="APOA1" /frequency="0.21" /replace="A" variation 3431 /gene="APOA1" /frequency="0.06" /replace="A" variation 3543 /gene="APOA1" /frequency="0.04" /replace="T" variation 3613 /gene="APOA1" /frequency="0.08" /replace="A" variation 3714 /gene="APOA1" /frequency="0.08" /replace="A" variation 3766 /gene="APOA1" /frequency="0.06" /replace="T" variation 4050 /gene="APOA1" /frequency="0.43" /replace="A" variation 4245 /gene="APOA1" /frequency="0.01" /replace="A" variation 4284 /gene="APOA1" /frequency="0.12" /replace="A" variation 4443 /frequency="0.19" /replace="T" variation 4693 /frequency="0.03" /replace="G" variation 4732 /frequency="0.01" /replace="A" variation 4807 /frequency="0.04" /replace="T" repeat_region 5234..5329 /rpt_family="MIR" /rpt_type=dispersed BASE COUNT 1082 a 1505 c 1579 g 1163 t ORIGIN 1 taccctgcct tccttgacag ctttgtgcgg aaggtcaaac aggacaataa gtttgctgat 61 actttgataa actgttaggt gctgcacaac atgacttgag tgtgtgcccc atgccagcca 121 ctatgcctgg cacttaagtt gtcatcagag ttgagactgt gtgtgtttac tcaaaactgt 181 ggagctgacc tcccctatcc aggccaccta gccctcttag gcgcacgtga agggaggagg 241 ccggatgggc tagaggttgg agtaagatgc aacgaggcac tattcttggc tccaccactt 301 gatatcagcc tcagtttctt acatgtaaag tggatacaac cgtaccccct ccaccgtagg 361 tttgccgtga gattgaaatg agagagcgtt cgaaccgttt ggcacagcac ctgcacgtaa 421 agatgcttga tcaatgttgt catgattaca gttgagctga ctgggccctt gggacccgga 481 ctggagtggt ggggggcagt gtcctgggac caaaaagaag cacaaggtct cccaatagag 541 gctgcttcct ttgtgtcccc accacccgaa agatgtcagg tcagagagcc cgagagctgc 601 agatggcttg agtagggctc cactcttcag atcaaaaaac tgtggcccgg agaggcgaag 661 gcacttggcc agcatcacag agccagcacg tggcagggcc agaccttgag cccaggtcag 721 ctgcgtgtat tctgctcagt tggtgcagaa aacagttttg tcactcctat gtcaggtgtt 781 agggactcct ttacagatct cagtggcatc agtacatcca gccccacctg gagactgctt 841 tctctctgaa aattccccag ggcttctctc tgggctgaga gatctcagca cccgtatcta 901 gaaaatgttc ccacccagac ctggctggat gactgctgtt gtagctctgg aaggttagga 961 actaaaaagc ccactccttt acctagggta gctaagatac actggagatg gggacatggg 1021 gatggggccg attatccagg ggcctgcatg agggggcaaa aggccctgca gagagagggt 1081 agggaaggca ctgcccagat ctgtgaagcc atgtgcgtgc acgcggggac attcagacat 1141 gagtgcaagg agggaccgtg agcagggagg tcatgtgaga atacacaggc atgcctgcac 1201 acccatgtga acttgagtgc caggccacac actctttttt tttttttttt ttttttttag 1261 ctggagtctt gctccgtcgc ccaggctgga gtgcagtggc atgatttcgg ctcactgtga 1321 cctctgcctc ccaggttcaa gcgattctcc tgcctcagcc ttcctagtag ctgggattac 1381 gggtgcaagc caccatgccc agctgatttt ttttgtattt ttagtagaga cagggtttca 1441 ccatattggc caggctggtc tcaaactcct ggcctgaagt gatacgccca cctcagcctc 1501 ccaaagtgct gggattacag gcttgagcca ccgcacccga cccgcacact cttttcaata 1561 atcatggatg gccaggggtg cagggtctaa aaagcgctgc ctagcccatc ctgctgttca 1621 ctgggcaagc gacgtcacag gtccaggctt cagtgtcctc atccatgctc tgcgtctgat 1681 ggcaatctag ccaggatgtg gggaagggag gatgcagtga gagcacagat atgagagcat 1741 cttggaaata aaaatgtacc tgcaagaggt ggtggtgaat tttcttactc aggccagctt 1801 ctgccagggc tggcagaaag agggggtggc atggcatgga gccgcagggg gtggaggact 1861 ggcttccact gctgtgcctg aggaagccgc ggctgtttct gggcgggatg ggagtagtgg 1921 gagggggata ctggccttgt gagaagaaaa gggaagtgtc tgtttgagag gtttttgaat 1981 tagtaaagga ggacaggcgc aaactccaag cgcttcactt gcacccggga ccaaacccca 2041 atcccagtgg ctggctccct gaggccgccc cgctccgtcc cgccccgctg acagcggctg 2101 ggctggagaa ggctctatac ggacacacct ctggggacgg ggaacccact gctcccagct 2161 aaagcaaccc tgtttcctgg cccgcctcag acagggctgc aggccttgtt tgagcccctt 2221 tcagggcacc tggccttgga ttgtctgtgg ctttgcctgg tccgctgtga cttcctttct 2281 acttgagcct tgctaaggca gactctactc cctcactcgt aagcagccag gcgtccagca 2341 ggtcctccaa cgtcgatctt ggccctaaga cgtcctgtct gggcacggag ttgttgagat 2401 ccggcaggaa gtccctgctc cagggccaaa ggccccaccc gggctccccc ggatgtcccc 2461 gcacccccct ctattctccc aaaagaaaga agctgcttcc cactttggaa acgtttattc 2521 tgagcaccgg gaaggggggc ggcggcgggc gcctcactgg gtgttgagct tcttagtgta 2581 ctcctcgaga gcgctcagga agctgacctt gaagctctcc agcacgggca gcaggccttg 2641 gcggaggtcc tcgagcgcgg gcttggcctt ctcgctgagc gtgctcagat gctcggtggc 2701 cttggcgtgg tactcggcca gtctggcgcc gccgttctcc ttgagagcct caaggcgcgc 2761 ggccaagcgc tggcgcagct cgtcgctgta gggggccaga tgcgtgcgca gcgcgtccac 2821 atgggcgcgc gcgcggtcgc gcatctcctc gcccagtggg ctcagcttct cttgcagctc 2881 gtgcagcttc tggcgcgcgc cctcttggag ctctgcgcgc agcggctcca ccttctggcg 2941 gtagagctcc atctcctcct gccacttctt ctggaagtcg tccaggtagg gctgcacctt 3001 ggccttcacc tcctccagat ccttgctcat ctcctgcctc aggccctctg tctccttttc 3061 caggttatcc cagaactcct gggtcacagg gccgagctgt tcgcgcagct tgctgaaggt 3121 ggaggtcacg ctgtcccagt tgtcaaggag ctttaggctg gagggtgaga cagaagggtt 3181 gagggctggc ctcccagcgc cccagcctat caggggtgag ccctgggtga cacctgtccg 3241 cggaggtgca gtggcctagc atttccagta cactctcaac caacacccct gccccgccag 3301 gccatgcccc gttgtgcagc tggaccgagg cacagagagg agctaaaaag gagacagagc 3361 tgggactagt gcccagttac gttggtctcc aaagtgggcc cttgaaggac ctcgcttcta 3421 tgcctccagc gcattctcct ctccgaagac agcccacagt cttgctgggc aggagcagag 3481 gaggtggtga agaagggaaa ggggcttgct acacttgcag gcacaatgtg gctctgtgat 3541 cacgcatcgg gcagccctgg tctgtccttt gcaggggaca tgggctgtga ccctgcctgg 3601 agatcccatt ccggtttctc catccagacc atctgtgggg cccagctcat cagatattag 3661 gtgaggactc ggccagtctg gcttcaacat catcccacag gcctctgccc cctgcccctg 3721 ccctcaaccc caggctgggt ccttacttta gctgttttcc caaggcggag ccttcaaact 3781 gggacacata gtctctgccg ctgtctttga gcacatccac gtacacagtg gccaggtcct 3841 tcactcgatc ccaggggctc tgggggggtt catcttgctg ccagaaatgc cgagcctggc 3901 tccctgaggg tgggagggga gacccagatc aggccagctg tgggctgaga tctgagccga 3961 aaggccaagc ttggaggtgg gggagagggg gccagtgaga aacctgctgc ctctgcccag 4021 gagggtgggc cacggggatt tagggagaaa gccccccgat ggttggctcc ctaggttagg 4081 ggacacctac ccgtcaggaa gagcacggcc aaggtcagca ccgcagcttt catcctgaag 4141 ggccgtgggg gacctggagg agaagaaggg cctggctgag tggggtgcct tcagcatgca 4201 gaagccccgt gctcccccac tcattgcagc caggtgagga gaagggcaca gagcgggaga 4261 agacctcagg tacccagagg cccggcctgg ggcaaggcct gaaccttgag ctggggagcc 4321 agagtgaccg gggcaggcag caggacgcac ctccttctcg cagtctctaa gcagccagct 4381 cttgcagggc ctatttatgt ctgcagccag ggtctgggct gggaggctga taagcccagc 4441 cccggccctg ttgctgctca ctggtcctgg caatgtggaa cttaagagtt caaggatcag 4501 ctctgtccct ggggctgggc aaatagagtg ggcaaacagc aagctgcggg ggctgcaggg 4561 caggggtcaa gggttcagtg ggggcgggag gggagtgtct gcaggcttgc aggtctcccg 4621 ggtggggtcg gggttccctg cactcatccc cttcccctcc atgggagtgt gtgggcagtt 4681 gccattgtcc attgtgttgg cagaggaggg gaggggaggg acgctgggac tcctccacca 4741 aggagactgc ctcccccacc accagcattc cagggagact acttcactcc cctccccctt 4801 cccccgccct gtcctcccac cagtgctctt ctttagtccc cagcaggtcc tccaggcctc 4861 tctccaagcc tcccaaactg gtaaacctgg ggagagggga gagccctccg tggctcccag 4921 actgaggttt cggagacctc ttgcatttca aaacactcca gagatcaatt cggagctgcc 4981 aacttttaat tttgtcatgt aaagatattg tccgcctcca aaaaaccctc accatctaca 5041 gtgaccatca cttcaaaaag gaaaggcttt aacaaaaaag ggcataatct cagaattaca 5101 ttacagaatt gaagcccctt agattgaaga cgtctccctt tgcattgttc acacttatat 5161 ttgatcacgc acaggtgtga ctggatctca gcccttggga agccctggtg tggggagaag 5221 acctctgggc aaaggaagtg gcaggagacc tgctttctca tttcacttgg cctccatctt 5281 gctggaggaa gatcgtgggc aagttatata atctctctga gcctcggtt //