LOCUS AF261279 5491 bp DNA linear PRI 27-OCT-2000 DEFINITION Homo sapiens apolipoprotein-E gene, complete cds. ACCESSION AF261279 VERSION AF261279.1 GI:11034800 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 5491) AUTHORS Nickerson,D.A., Taylor,S.L., Fullerton,S.M., Weiss,K.M., Clark,A.G., Stengard,J.H., Salomaa,V., Boerwinkle,E. and Sing,C.F. TITLE Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene JOURNAL Genome Res. 10 (10), 1532-1545 (2000) MEDLINE 20499366 PUBMED 11042151 REFERENCE 2 (bases 1 to 5491) AUTHORS Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (27-APR-2000) Department of Molecular Biotechnology, University of Washington, Box 357730, Seattle, WA 98195, USA FEATURES Location/Qualifiers source 1..5491 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.2" repeat_region <3..>108 /note="putative" /rpt_family="MIR" /rpt_type=dispersed variation 73 /frequency="0.01" /replace="t" repeat_region <207..>295 /note="putative" /rpt_family="MIR" /rpt_type=dispersed variation 308 /frequency="0.01" /replace="t" satellite <320..>339 /note="putative" /rpt_type=tandem repeat_region <340..>637 /note="putative" /rpt_family="Alu" /rpt_type=dispersed variation 471 /frequency="0.01" /replace="g" variation 545 /frequency="0.01" /replace="t" variation 560 /frequency="0.22" /replace="t" variation 624 /frequency="0.07" /replace="c" satellite <638..>718 /note="putative" /rpt_type=tandem variation 832 /frequency="0.45" /replace="t" mRNA join(1060..1094,1855..1920,3013..3205,3786..4645) /product="apolipoprotein-E" variation 1163 /frequency="0.35" /replace="c" variation 1522 /frequency="0.01" /replace="a" variation 1575 /frequency="0.01" /replace="t" CDS join(1878..1920,3013..3205,3786..4503) /note="APOE" /codon_start=1 /product="apolipoprotein-E" /protein_id="AAG27089.1" /db_xref="GI:11034801" /translation="MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRW ELALGRFWDYLRWVQTLSEQVQEELLSSQVTQELRALMDETMKELKAYKSELEEQLTP VAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLR KLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAG QPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQ ARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPVPSDNH" variation 1998 /frequency="0.10" /replace="a" repeat_region <2124..>2435 /note="putative" /rpt_family="Alu" /rpt_type=dispersed variation 2440 /frequency="0.21" /replace="a" repeat_region <2569..>2848 /note="putative" /rpt_family="Alu" /rpt_type=dispersed variation 2907 /frequency="0.01" /replace="g" variation 3106 /frequency="0.01" /replace="c" repeat_region <3472..>3588 /note="putative" /rpt_family="Alu" /rpt_type=dispersed variation 3673 /frequency="0.01" /replace="g" variation 3701^3702 /frequency="0.01" /replace="ct" variation 3937 /frequency="0.14" /replace="c" variation 4036 /frequency="0.01" /replace="t" variation 4075 /frequency="0.07" /replace="t" repeat_region <4755..>5056 /note="putative" /rpt_family="Alu" /rpt_type=dispersed repeat_region <5065..>5476 /note="putative" /rpt_family="Alu" /rpt_type=dispersed variation 5229^5230 /frequency="0.03" /replace="gg" variation 5229 /frequency="0.07" /replace="t" variation 5229^5230 /frequency="0.40" /replace="g" variation 5230 /frequency="0.13" /replace="" variation 5361 /frequency="0.06" /replace="c" BASE COUNT 1029 a 1663 c 1603 g 1196 t ORIGIN 1 cttgatgctc agagaggaca agtcatttgc ccaaggtcac acagctggca actggcagag 61 ccaggattca cgccctggca atttgactcc agaatcctaa ccttaaccca gaagcacggc 121 ttcaagcccc tggaaaccac aatacctgtg gcagccaggg ggaggtgctg gaatctcatt 181 tcacatgtgg ggagggggct cccctgtgct caaggtcaca accaaagagg aagctgtgat 241 taaaacccag gtcccatttg caaagcctcg acttttagca ggtgcatcat actgttccca 301 cccctcccat cccacttctg tccagccgcc tagccccact ttcttttttt tctttttttg 361 agacagtctc cctcttgctg aggctggagt gcagtggcga gatctcggct cactgtaacc 421 tccgcctccc gggttcaagc gattctcctg cctcagcctc ccaagtagct aggattacag 481 gcgcccgcca ccacgcctgg ctaacttttg tatttttagt agagatgggg tttcaccatg 541 ttggccaggc tggtctcaaa ctcctgacct taagtgattc gcccactgtg gcctcccaaa 601 gtgctgggat tacaggcgtg agctaccgcc cccagcccct cccatcccac ttctgtccag 661 ccccctagcc ctactttctt tctgggatcc aggagtccag atccccagcc ccctctccag 721 attacattca tccaggcaca ggaaaggaca gggtcaggaa aggaggactc tgggcggcag 781 cctccacatt ccccttccac gcttggcccc cagaatggag gagggtgtct ggattactgg 841 gcgaggtgtc ctcccttcct ggggactgtg gggggtggtc aaaagacctc tatgccccac 901 ctccttcctc cctctgccct gctgtgcctg gggcaggggg agaacagccc acctcgtgac 961 tgggggctgg cccagcccgc cctatccctg ggggaggggg cgggacaggg ggagccctat 1021 aattggacaa gtctgggatc cttgagtcct actcagcccc agcggaggtg aaggacgtcc 1081 ttccccagga gccggtgaga agcgcagtcg ggggcacggg gatgagctca ggggcctcta 1141 gaaagagctg ggaccctggg aagccctggc ctccaggtag tctcaggaga gctactcggg 1201 gtcgggcttg gggagaggag gagcgggggt gaggcaagca gcaggggact ggacctggga 1261 agggctgggc agcagagacg acccgacccg ctagaaggtg gggtggggag agcagctgga 1321 ctgggatgta agccatagca ggactccacg agttgtcact atcatttatc gagcacctac 1381 tgggtgtccc cagtgtcctc agatctccat aactggggag ccaggggcag cgacacggta 1441 gctagccgtc gattggagaa ctttaaaatg aggactgaat tagctcataa atggaacacg 1501 gcgcttaact gtgaggttgg agcttagaat gtgaagggag aatgaggaat gcgagactgg 1561 gactgagatg gaaccggcgg tggggagggg gtggggggat ggaatttgaa ccccgggaga 1621 ggaagatgga attttctatg gaggccgacc tggggatggg gagataagag aagaccagga 1681 gggagttaaa tagggaatgg gttgggggcg gcttggtaaa tgtgctggga ttaggctgtt 1741 gcagataatg caacaaggct tggaaggcta acctggggtg aggccgggtt ggggccgggc 1801 tgggggtggg aggagtcctc actggcggtt gattgacagt ttctccttcc ccagactggc 1861 caatcacagg caggaagatg aaggttctgt gggctgcgtt gctggtcaca ttcctggcag 1921 gtatgggggc ggggcttgct cggttccccc cgctcctccc cctctcatcc tcacctcaac 1981 ctcctggccc cattcaggca gaccctgggc cccctcttct gaggcttctg tgctgcttcc 2041 tggctctgaa cagcgatttg acgctctctg ggcctcggtt tcccccatcc ttgagatagg 2101 agttagaagt tgttttgttg ttgttgtttg ttgttgttgt tttgtttttt tgagatgaag 2161 tctcgctctg tcgcccaggc tggagtgcag tggcgggatc tcggctcact gcaagctccg 2221 cctcccaggt ccacgccatt ctcctgcctc agcctcccaa gtagctggga ctacaggcac 2281 atgccaccac acccgactaa cttttttgta ttttcagtag agacggggtt tcaccatgtt 2341 ggccaggctg gtctggaact cctgacctca ggtgatctgc ccgtttcgat ctcccaaagt 2401 gctgggatta caggcgtgag ccaccgcacc tggctgggag ttagaggttt ctaatgcatt 2461 gcaggcagat agtgaatacc agacacgggg cagctgtgat ctttattctc catcaccccc 2521 acacagccct gcctggggca cacaaggaca ctcaatacat gcttttccgc tgggcgcggt 2581 ggctcacccc tgtaatccca gcactttggg aggccaaggt gggaggatca cttgagccca 2641 ggagttcaac accagcctgg gcaacatagt gagaccctgt ctctactaaa aatacaaaaa 2701 ttagccaggc atggtgccac acacctgtgc tctcagctac tcaggaggct gaggcaggag 2761 gatcgcttga gcccagaagg tcaaggttgc agtgaaccat gttcaggccg ctgcactcca 2821 gcctgggtga cagagcaaga ccctgtttat aaatacataa tgctttccaa gtgattaaac 2881 cgactccccc ctcaccctgc ccaccatggc tccaaagaag catttgtgga gcaccttctg 2941 tgtgccccta ggtactagat gcctggacgg ggtcagaagg accctgaccc accttgaact 3001 tgttccacac aggatgccag gccaaggtgg agcaagcggt ggagacagag ccggagcccg 3061 agctgcgcca gcagaccgag tggcagagcg gccagcgctg ggaactggca ctgggtcgct 3121 tttgggatta cctgcgctgg gtgcagacac tgtctgagca ggtgcaggag gagctgctca 3181 gctcccaggt cacccaggaa ctgaggtgag tgtccccatc ctggcccttg accctcctgg 3241 tgggcggcta tacctcccca ggtccaggtt tcattctgcc cctgtcgcta agtcttgggg 3301 ggcctgggtc tctgctggtt ctagcttcct cttcccattt ctgactcctg gctttagctc 3361 tctggaattc tctctctcag ctttgtctct ctctcttccc ttctgactca gtctctcaca 3421 ctcgtcctgg ctctgtctct gtccttccct agctctttta tatagagaca gagagatggg 3481 gtctcactgt gttgcccagg ctggtcttga acttctgggc tcaagcgatc ctcccgcctc 3541 ggcctcccaa agtgctggga ttagaggcat gagccacctt gcccggcctc ctagctcctt 3601 cttcgtctct gcctctgccc tctgcatctg ctctctgcat ctgtctctgt ctccttctct 3661 cggcctctgc cccgttcctt ctctccctct tgggtctctc tggctcatcc ccatctcgcc 3721 cgccccatcc cagcccttct ccccgcctcc cactgtgcga caccctcccg ccctctcggc 3781 cgcagggcgc tgatggacga gaccatgaag gagttgaagg cctacaaatc ggaactggag 3841 gaacaactga ccccggtggc ggaggagacg cgggcacggc tgtccaagga gctgcaggcg 3901 gcgcaggccc ggctgggcgc ggacatggag gacgtgtgcg gccgcctggt gcagtaccgc 3961 ggcgaggtgc aggccatgct cggccagagc accgaggagc tgcgggtgcg cctcgcctcc 4021 cacctgcgca agctgcgtaa gcggctcctc cgcgatgccg atgacctgca gaagcgcctg 4081 gcagtgtacc aggccggggc ccgcgagggc gccgagcgcg gcctcagcgc catccgcgag 4141 cgcctggggc ccctggtgga acagggccgc gtgcgggccg ccactgtggg ctccctggcc 4201 ggccagccgc tacaggagcg ggcccaggcc tggggcgagc ggctgcgcgc gcggatggag 4261 gagatgggca gccggacccg cgaccgcctg gacgaggtga aggagcaggt ggcggaggtg 4321 cgcgccaagc tggaggagca ggcccagcag atacgcctgc aggccgaggc cttccaggcc 4381 cgcctcaaga gctggttcga gcccctggtg gaagacatgc agcgccagtg ggccgggctg 4441 gtggagaagg tgcaggctgc cgtgggcacc agcgccgccc ctgtgcccag cgacaatcac 4501 tgaacgccga agcctgcagc catgcgaccc cacgccaccc cgtgcctcct gcctccgcgc 4561 agcctgcagc gggagaccct gtccccgccc cagccgtcct cctggggtgg accctagttt 4621 aataaagatt caccaagttt cacgcatctg ctggcctccc cctgtgattt cctctaagcc 4681 ccagcctcag tttctctttc tgcccacata ctggccacac aattctcagc cccctcctct 4741 ccatctgtgt ctgtgtgtat ctttctctct gccctttttt ttttttttag acggagtctg 4801 gctctgtcac ccaggctaga gtgcagtggc acgatcttgg ctcactgcaa cctctgcctc 4861 ttgggttcaa gcgattctgc tgcctcagta gctgggatta caggctcaca ccaccacacc 4921 cggctaattt ttgtattttt agtagagacg agctttcacc atgttggcca ggcaggtctc 4981 aaactcctga ccaagtgatc cacccgccgg cctcccaaag tgctgagatt acaggcctga 5041 gccaccatgc ccggcctctg cccctctttc ttttttaggg ggcagggaaa ggtctcaccc 5101 tgtcacccgc catcacagct cactgcagcc tccacctcct ggactcaagt gataagtgat 5161 cctcccgcct cagcctttcc agtagctgag actacaggcg cataccacta ggattaattt 5221 gggggggggg tggtgtgtgt ggagatgggg tctggctttg ttggccaggc tgatgtggaa 5281 ttcctgggct caagcgatac tcccaccttg gcctcctgag tagctgagac tactggctag 5341 caccaccaca cccagctttt tattattatt tgtagagaca aggtctcaat atgttgccca 5401 ggctagtctc aaacccctgg gctcaagaga tcctccgcca tcggcctccc aaagtgctgg 5461 gattccaggc atgggctccg agcggcctgc c //