LOCUS FOXA2 7219 bp DNA PRI 26-DEC-2007 DEFINITION Homo sapiens forkhead box A2 (FOXA2) gene, complete cds. ACCESSION FOXA2 VERSION tmp KEYWORDS . SOURCE human. ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 7219) AUTHORS Rieder,M.J., Johanson,E.J., da Ponte,S.H., Stanaway,I.B., Ahearn,M.O., Bertucci,C.B., Wong,M.W., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (26-DEC-2007) 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..7219 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" variation 260 /frequency="0.03" /replace="A" variation 494 /frequency="0.01" /replace="T" variation 648 /frequency="0.98" /replace="" variation 957 /frequency="0.20" /replace="G" variation 984 /frequency="0.01" /replace="T" variation 1016 /frequency="0.01" /replace="T" variation 1044 /frequency="0.01" /replace="T" variation 1107 /frequency="0.01" /replace="T" misc_feature 1449..1677 /note="Region not scanned for variation" mRNA join(1980..2251,3289..5258) /gene="FOXA2" /product="FOXA2" CDS join(2165..2251,3289..4593) /gene="FOXA2" /codon_start=1 /product="forkhead box A2" /translation="MHSASSMLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMN GMNTYMSMSAAAMGSGSGNMSAGSMNMSSYVGAGMSPSLAGMSPGAGAMAGMGGSAGA AGVAGMGPHLSPSLSPLGGQAAGAMGGLAPYANMNSMSPMYGQAGLSRARDPKTYRRS YTHAKPPYSYISLITMAIQQSPNKMLTLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLS FNDCFLKVPRSPDKPGKGSFWTLHPDSGNMFENGCYLRRQKRFKCEKQLALKEAAGAA GSGKKAAAGAQASQAQLGEAAGPASETPAGTESPHSSASPCQEHKRGGLGELKGTPAA ALSPPEPAPSPGQQQQAAAHLLGPPHHPGLPPEAHLKPEHHYAFNHPFSINNLMSSEQ QHHHSHHHHQPHKMDLKAYEQVMHYPGYGSPMPGSLAMGPVTNKTGLDASPLAADTSY YQGVYSRPIMNSS" variation 2660 /gene="FOXA2" /frequency="0.02" /replace="G" variation 2695 /gene="FOXA2" /frequency="0.01" /replace="A" variation 2748 /gene="FOXA2" /frequency="0.07" /replace="T" variation 3510 /gene="FOXA2" /frequency="0.13" /replace="T" variation 3626 /gene="FOXA2" /frequency="0.02" /replace="C" variation 4056 /gene="FOXA2" /frequency="0.35" /replace="G" variation 4407 /gene="FOXA2" /frequency="0.01" /replace="A" variation 4643 /gene="FOXA2" /frequency="0.39" /replace="T" variation 4703 /gene="FOXA2" /frequency="0.01" /replace="A" variation 4739 /gene="FOXA2" /frequency="0.01" /replace="A" variation 4770 /gene="FOXA2" /frequency="0.27" /replace="T" variation 5121 /gene="FOXA2" /frequency="0.03" /replace="A" variation 5128 /gene="FOXA2" /frequency="0.04" /replace="T" variation 5216 /gene="FOXA2" /frequency="0.02" /replace="T" variation 5493 /frequency="0.01" /replace="C" variation 5602 /frequency="0.04" /replace="A" variation 5684 /frequency="0.03" /replace="T" variation 5699 /frequency="0.25" /replace="G" variation 5954 /frequency="0.01" /replace="T" variation 5988 /frequency="0.02" /replace="C" variation 6110 /frequency="0.37" /replace="G" variation 6149 /frequency="0.19" /replace="T" variation 6160 /frequency="0.07" /replace="A" variation 6392 /frequency="0.34" /replace="C" variation 6546 /frequency="0.08" /replace="G" variation 6652 /frequency="0.08" /replace="A" BASE COUNT 1500 a 2186 c 2021 g 1512 t ORIGIN 1 gagtgatgaa gttgctccca tccacgcgct aggtgggacc ccgtgggaaa tgctggggat 61 ctagcccctc tgactccgct gcgcacacct ccacgttcac tacgtagccg tacacaccat 121 caagctcctt ccctggcgca ccgggctggc ctgcccctcg tgggagcctt cagcactcgg 181 gggaccgata ggcacggctt ccgcggagat acagaccttg aatttgtggg agaatcccgc 241 cctggcgctc actcggcggg cttattaatg ccctctttat gaagtgtcca aaccatctgc 301 atttcagcag caaaagatgc tgccggcggc ttccttctgt gtcccaaacc gtgcagacct 361 gagagtcctg gggttaggga agtggttccc ctgtgcctac tgctacctcc tcgcttgcct 421 tccagcctca cccttactca agcttcaatg cgaagctccg tgtctgccat ctcgcctgtc 481 ttctgccacc atcgccccca attttggaca ggtgggctgg atgcccacta gttcctatgc 541 attctctgtg tctgaggggg tgggtacagg gctggatccc caaggtccag ccaggttttc 601 agaaccaaga aagagcctcc acatccaaac acctgcaata tcccccccac tccaaatctg 661 ggctcacagg ctaacccaga acagaagaca atttttgaac ccaagagctg ctggggaaat 721 aaaagtatac gattgctgga gtttctaatt tctattaagc agtccctctg gaagacagag 781 aggacagaga cgctcttgaa gtcaactcca tatgccccat cattgattcc tggattcttc 841 tctcctcacc cctccctccc cacctcctgc cctgtttgtt ttagttacga aatgctgtgg 901 gcacctcggt tgtgactgaa aagtaacctt gaaacacgcc ggcctgaata tcagagacaa 961 atctcagcct cccaaccgtc ggccgctgct agaggggctg cttgcgccag gcgccggccg 1021 ccccactgcg ggtccctggc ggccggtgtc tgaggagtcg gagagccgag gcggccagac 1081 cgtgcgcccc gcgcttctcc cgaggccgtt ccgggtctga actgtaacag ggaggggcct 1141 cgcaggagca gcagcgggcg agttaaaggt gtgtacgtag tttttctaaa taggacagcg 1201 ctttgcaaat tggctgtcat ggacttgctg ttttgacaga gaatgagcac tgagagcgaa 1261 gaaacccggc ataaataaat ccggctttca tagggatctg ccgggcactg aggctggacg 1321 cgccctccga caggcgcacc gggcgcccgg cgcgatgaga cggggcgggg gctggaggcc 1381 ggagccgccc cagagggtgg tttcctccca ggtccctcct tcctcagggg actcgctgtg 1441 gacccgggag gaaagggggc tcgaccaggg atcccgcgtg cccgatcgcc cgcccagccc 1501 gctcccctgg cccgcccagg agtgcggggc gccgcggcgg tggggcggac ggcaggcgct 1561 gaggggcagg tgcggagcgc cggctgcggc tacctctcac ctaggtgtga gctgattatt 1621 caaatgggct gccccgggtc tggggattgg aggcccgcgc cagcgcgccg cgctatatca 1681 ccagcctccc acgtcactgc ggcacttgtc cgctccgcgg tccacacctc ctcctcctcc 1741 tcctcctcct cctcctcctc ctcctcctcc accaccacca ccgcctcctc ctcctccttc 1801 ctcctcctcc tccccacccc cccactagcc cccgcgccgc gcgcttcccg ccgcctcggg 1861 gcagctcggc actgccaacc tcagccgcca cccggcagcc cgtgagcgcg gcggcggcgg 1921 gtgctcccta ccgcggggcg ctggcctggg cctcctccgc tcctcgcccc cccccacctc 1981 ccgcccactt ccaactaccg cctccggcct gcccagggag agagagggag tggagcccag 2041 ggagagggag cgcgagagag ggagggagga ggggacggtg ctttggctga ctttttttta 2101 aaagagggtg ggggtggggg gtgattgctg gtcgtttgtt gtggctgtta aattttaaac 2161 tgccatgcac tcggcttcca gtatgctggg agcggtgaag atggaagggc acgagccgtc 2221 cgactggagc agctactatg cagagcccga ggtaagcgct cgtcttttcc agggggaagt 2281 ggagcggcgg cgctcgctcc ttccccaacc tcaggaccgc ttccctcgct ggcacccccc 2341 caccccgccc cacaacccca gcctttctgg gcagccgcct tttccgccct ccttggaatc 2401 aaatgggtct cttttttata cgacacactg ttagccttga gataatatta actttgtgat 2461 caaatattga cttgcggcgc ctccaaatcc tcttcgtggc cgagccacgc actatcctaa 2521 cagagttatg tttggcagcg cgcggctggg gaggggtggg aggtcggccg gcgagggggt 2581 ggggagctga ggaggagaag atgggtagga gttgggggct gaagtggagg cagagtcaaa 2641 gactagtgga caaagagaaa gaaagttttt gcctgcaaag ctcagccgcg tgtggttcag 2701 gtctcggttc tttccctatt gccccgttca gtgcctccag ccgcccccgc actccgcaca 2761 ggcactgcct tgcagtttcc ctgggacaag ggagggggtc cctggaggga gaccggacag 2821 agggggcccg ggacagtctt cgctggaggc agcccgaggc gccccgcgcg ttgtcccgca 2881 ggttgcttgc tgcgaccgga ggtggcgtcc ggggacttcg ggcctcggcg ccagctcagt 2941 atgctggtgg gagagtttgg ggagactctg gggtagggga atgtatttgg ggtgctggct 3001 tgggagtact ccatgggacc cctgttctag aatctgggcg aggtggagaa gggctaggaa 3061 cgggccacat gcccaagcag caatccgctc gccaccttcc caagggcgat cgatcatgac 3121 tctccctgaa tgaaacagac tcggagtccg gagactgggc catcggggac gaaagggctc 3181 cccggaggcc tccccggacg cggaggcctg ggcggtgggt gggaggtctg ggcaccctcc 3241 agccgcggtg ctaacgctgt cgcctccctc ccggggctct gtccgcaggg ctactcctcc 3301 gtgagcaaca tgaacgccgg cctggggatg aacggcatga acacgtacat gagcatgtcg 3361 gcggccgcca tgggcagcgg ctcgggcaac atgagcgcgg gctccatgaa catgtcgtcg 3421 tacgtgggcg ctggcatgag cccgtccctg gcggggatgt cccccggcgc gggcgccatg 3481 gcgggcatgg gcggctcggc cggggcggcc ggcgtggcgg gcatggggcc gcacttgagt 3541 cccagcctga gcccgctcgg ggggcaggcg gccggggcca tgggcggcct ggccccctac 3601 gccaacatga actccatgag ccccatgtac gggcaggcgg gcctgagccg cgcccgcgac 3661 cccaagacct acaggcgcag ctacacgcac gcaaagccgc cctactcgta catctcgctc 3721 atcaccatgg ccatccagca gagccccaac aagatgctga cgctgagcga gatctaccag 3781 tggatcatgg acctcttccc cttctaccgg cagaaccagc agcgctggca gaactccatc 3841 cgccactcgc tctccttcaa cgactgtttc ctgaaggtgc cccgctcgcc cgacaagccc 3901 ggcaagggct ccttctggac cctgcaccct gactcgggca acatgttcga gaacggctgc 3961 tacctgcgcc gccagaagcg cttcaagtgc gagaagcagc tggcgctgaa ggaggccgca 4021 ggcgccgccg gcagcggcaa gaaggcggcc gccggagccc aggcctcaca ggctcaactc 4081 ggggaggccg ccgggccggc ctccgagact ccggcgggca ccgagtcgcc tcactcgagc 4141 gcctccccgt gccaggagca caagcgaggg ggcctgggag agctgaaggg gacgccggct 4201 gcggcgctga gccccccaga gccggcgccc tctcccgggc agcagcagca ggccgcggcc 4261 cacctgctgg gcccgcccca ccacccgggc ctgccgcctg aggcccacct gaagccggaa 4321 caccactacg ccttcaacca cccgttctcc atcaacaacc tcatgtcctc ggagcagcag 4381 caccaccaca gccaccacca ccaccagccc cacaaaatgg acctcaaggc ctacgaacag 4441 gtgatgcact accccggcta cggttccccc atgcctggca gcttggccat gggcccggtc 4501 acgaacaaaa cgggcctgga cgcctcgccc ctggccgcag atacctccta ctaccagggg 4561 gtgtactccc ggcccattat gaactcctct taagaagacg acggcttcag gcccggctaa 4621 ctctggcacc ccggatcgag gacaagtgag agagcaagtg ggggtcgaga ctttggggag 4681 acggtgttgc agagacgcaa gggagaagaa atccataaca cccccacccc aacaccccca 4741 agacagcagt cttcttcacc cgctgcagcc gttccgtccc aaacagaggg ccacacagat 4801 accccacgtt ctatataagg aggaaaacgg gaaagaatat aaagttaaaa aaaagcctcc 4861 ggtttccact actgtgtaga ctcctgcttc ttcaagcacc tgcagattct gatttttttg 4921 ttgttgttgt tctcctccat tgctgttgtt gcagggaagt cttacttaaa aaaaaaaaaa 4981 aattttgtga gtgactcggt gtaaaaccat gtagttttaa cagaaccaga gggttgtact 5041 attgtttaaa aacaggaaaa aaaataatgt aagggtctgt tgtaaatgac caagaaaaag 5101 aaaaaaaaag cattcccaat cttgacacgg tgaaatccag gtctcgggtc cgattaattt 5161 atggtttctg cgtgctttat ttatggctta taaatgtgta ttctggctgc aagggccaga 5221 gttccacaaa tctatattaa agtgttatac ccggttttat cccttgaatc ttttcttcca 5281 gatttttctt ttctttactt ggcttacaaa atatacaggc ttggaaatta tttcaagaag 5341 gagggaggga taccctgtct ggttgcaggt tgtattttat tttggcccag ggagtgttgc 5401 tgttttccca acattttatt aataaaattt tcagacatac caaaattgaa tgaattttac 5461 agtaggcaca cagggacctg ctcccgagat tctgcaatta acatttcatt atacttgctt 5521 tatcacatac ttgtccatct atcttcacct ccactggtca atccatctta tttctctaaa 5581 tccacttcaa atttgcagat accagtacac atccccctaa acactaaagc aagcacatta 5641 ttaaatggaa cttgtatggt ttatggttac tttttgaatt tgggggttaa ctttacacac 5701 aatgaaatac acagatccca ggaagaccat tccagcaggt ttatttttaa agccagtaga 5761 agatcactct ccacatatca caattttcca ccttggctgt ttgaatgtgc cctgttgttg 5821 tggtctcttg ggccccacag cttgcttctc ttgggggaag cctcaatttc acatgttttt 5881 gctgtacttc tgatcttggg cctcccttca ggtcaatgag cctggatcaa acttgcaaat 5941 ttgtggtgca gcactttgcc tgttcaccac tgtgaacagt ggtggaattg ggactctgcc 6001 tggatcttcc agcctcctct gtacacaggg tgccaccctt tcccaccctt ctccctggag 6061 caggtattgt gcacaaccat ggcagacctt tctaacccag aaagacctta ctaacccaga 6121 aatggcgaga cacttggtgt agggaaacat ttagaagatc ttctcctgga attggtttga 6181 aagggtaagt cagggtaaca atccaagtct gttttttaaa aatagggtat atttgggagt 6241 gaggaggagg taaggggtgt ctggccaatg gaccatgaca gtagtgaaga tgccactgtc 6301 ggcaaatttg ctccccatct ccctccaaaa ctcaaggctc ttgcaaatct tcttgtaagt 6361 taggtgaggt tggcaatcca ggtttgcagg gtccaggggt tatgcaggta ttttgtgagc 6421 cttcaaggac tctaaaagta taacgaaaaa tcccagagtg aattcttata caccatgctg 6481 cctctccccc cagacgacct cgctggccta aaaggacggc caacggcagt gaaaaccaag 6541 gccgacagcg caaaggggag tctggtgttg gttttgccca ggacatctgc tggctgggcg 6601 agggcaggat cagtgtcgtc gcgggtcagg cagacttggg agccactccc gcgcgcagtg 6661 gcttgcggtg ggtaaaaaca ctccgaaagc ctggaggcta ggactttttg cctcaggttt 6721 ctaagctcag gctccttttt tcaagattag atctttgggc ttcttgacca tcctaacctg 6781 gagtgttcca gctacgcccc agacctggag actgtctttg agtgctacct tgctggggtc 6841 tctgccaccc catcccccac cccgccgcct tccccaacaa gcctggcctt cccacgcgct 6901 tgaggggggt ttggcatcgc ctccgcctcc cacccgccac tgcccccctc ccgccaccaa 6961 atccctttct taacatgcca cattgtcccg aagaacacaa ggaagagaaa ttggggaggg 7021 ggggatccgg aggccacagc cagcaatcag gccgtctctc ctcctagcaa ggacacacac 7081 gtcgtgagcc cggcctgaaa tgtgtttcat tatcacataa aaggctcccg tggcgaagga 7141 gccgagaggc agggccgggg gccgagtggg ggacaatgga ggctgaaagc gctgccctaa 7201 cctgctatgt ttcgtatgg //