LOCUS CYP27B1 7587 bp DNA linear PRI 30-APR-2003 DEFINITION Homo sapiens CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1) gene, complete cds. ACCESSION CYP27B1 VERSION 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 7587) AUTHORS Rieder,M.J., Livingston,R.J., Daniels,M.R., Chung,M.-W., Miyamoto,K.E., Nguyen,C.P., Nguyen,D.A., Poel,C.L., Robertson,P.D., Schackwitz,W.S., Sherwood,J.K., Witrak,L.A. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (30-APR-2003) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: NIEHS-SNPs, Environmental Genome Project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu). FEATURES Location/Qualifiers source 1..7587 /organism="Homo sapiens" /db_xref="taxon:9606" misc_feature 1..172 /note="Region not scanned for variation" variation 305 /frequency="0.01" /replace="G" variation 358 /frequency="0.01" /replace="A" variation 371 /frequency="0.38" /replace="G" gene 1385..6150 /gene="CYP27B1" mRNA join(1385..1639,2289..2479,2987..3189,3275..3475, 3560..3732,3936..4108,4310..4388,4678..4875,5231..6150) /gene="CYP27B1" /product="CYP27B1" CDS join(1445..1639,2289..2479,2987..3189,3275..3475, 3560..3732,3936..4108,4310..4388,4678..4875,5231..5344) /gene="CYP27B1" /codon_start=1 /product="CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1" /translation="MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPS TPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEG PRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDT ETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAA MRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELS RHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPD KDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGF GKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR " variation 1896 /gene="CYP27B1" /frequency="0.03" /replace="C" variation 1914 /gene="CYP27B1" /frequency="0.01" /replace="G" variation 3096 /gene="CYP27B1" /frequency="0.02" /replace="C" variation 3711 /gene="CYP27B1" /frequency="0.01" /replace="A" variation 4165 /gene="CYP27B1" /frequency="0.02" /replace="G" variation 4281 /gene="CYP27B1" /frequency="0.45" /replace="C" variation 4966 /gene="CYP27B1" /frequency="0.02" /replace="C" variation 4988 /gene="CYP27B1" /frequency="0.05" /replace="C" variation 5136 /gene="CYP27B1" /frequency="0.03" /replace="T" variation 5269 /gene="CYP27B1" /frequency="0.01" /replace="A" variation 5421 /gene="CYP27B1" /frequency="0.02" /replace="A" variation 5759 /gene="CYP27B1" /frequency="0.01" /replace="A" variation 6284 /frequency="0.01" /replace="A" variation 7047 /frequency="0.02" /replace="T" variation 7246 /frequency="0.01" /replace="A" BASE COUNT 1748 a 2096 c 1951 g 1792 t ORIGIN 1 atgtcctata taggtacatc cggcatagct gacctcaccc aatggatata tggttagaat 61 tggtaagtag aaggagactc acctcacggg cagggtgggg gggcgtattc ctatcctgac 121 ctaggagaaa ggtttgaagc tgggaggcag atgttgcagc gagccaagat cctgtggccc 181 aaactttaaa tttaattttt tttagagaca ggccctctct ctgttgccta ggctggagtg 241 cagtggtaca atcataactc actgcagcct tgacctcccg ggctcatgta atccacctca 301 gcctctcaag gcactacagg catacgccac catgcctggc taatttttgt attttttgta 361 gagacagttc cactatgttg cccaggctgg tctcagactc ctgagctcaa gcagtctgcc 421 caccttagcc tcccaaagtg ttgggattac agtcatgagc tgccgtgccc agcctaattt 481 ttaaacttct tctgtagaga cagtcttgct atgttgctca agcttgtctc aacctcctgg 541 cctcatgcca tcctcctgcc tcagcctccc aaagtgctgg gattataggc atgagccacc 601 acaggattct gaggctaaaa gtagaaagga gctgctaacc agaaagcccc ccagaggaga 661 ccgagtcagc tggggaatta gaacatccac atccatttag ctcctctaac accccacaga 721 caatctctga acttaactaa tgtacaaaaa gtttcatttc tgcttctcaa gccccaaatt 781 cccatgtctg gaaggagggg gcttgtatac ccaagagacc cccttatcct caagaaagaa 841 agatggaggt tctaggagcc attttagccc attaacccac ctgccatctg cccagtatat 901 gttaggtaca ggaggagggg gaggtgtggc tagtgcagga aaataatgca gagaagatac 961 aacccactaa gccaagaatg tggggacagt tacagctgtg cctcccctgc ttcccttcct 1021 ggaggagctg aaagatgggg aattcctgag gatgggccta aaggggctgg gctcactggt 1081 agaagtggga atatcagaga ctgactagtg tagcttggtc acctagtccc tactaaaaag 1141 ccttatagcc tttcctagga tgagactttg aggctcctag acaaaggcac tctcccagga 1201 ggaaaatctt aggccctccc tcccatgagg gtcattgcaa catgagaccc aagggagttg 1261 tgaagtcagc cccagccccg cctactgttc ctgggtgcta atccccagca cagaccactc 1321 aggaggaggg attggctgag gagcttggag agggggcgtc atcacctcac ccaaaggtta 1381 aataggggtt gagatatgat gctcaggaga agcgctttct ttcgcgagca ccctgaacca 1441 gaccatgacc cagaccctca agtacgcctc cagagtgttc catcgcgtcc gctgggcgcc 1501 cgagttgggc gcctccctag gctaccgaga gtaccactca gcacgccgga gcttggcaga 1561 catcccaggc ccctctacgc ccagctttct ggccgaactt ttctgcaagg gggggctgtc 1621 gaggctacac gagctgcagg taggaaggga cgcctttccc gagacagagt gctggggaaa 1681 ctggttttga cagcgtcaga aaggactgac tagtgcagag caaatgtggg acagccagag 1741 agaacggatg cccatgaaat aaggaaaagg cgagttgagg ctgggggcgg tgtggctaca 1801 ctcgggcaga gcccgtcccg actcttagca gagggcgctg cgaaagcgcc ttctcgctgt 1861 cctgaggtgt ggagatcctg cagataaagt acaagtgcgc gggaggggga ggccggagtg 1921 ggcagtaccc tccgcctgct tgcggcttaa agctacatgg gttccttttc attcactgag 1981 gactcgtcct gagatggaca gtccagacat ggaactttta gagatttctc ctcgaccgag 2041 atgatcagag aggtcctgaa tgtctgcctt gcacaaagtt ccggttttgc ccatcacact 2101 caaactttct agggatggga aatgagagag gaggagtttg cagtatcaaa ggcatacact 2161 agttgggcac ccgagaaaga gcagaagctc cctattccca agcccagtca acgcccttgg 2221 cgtgggcaca ggtcaagctg aaagtccccg cccaggtatc caagtgtccg ctgtgtccgc 2281 tcccccaggt gcagggcgcc gcgcacttcg ggccggtgtg gctagccagc tttgggacag 2341 tgcgcaccgt gtacgtggct gcccctgcac tcgtcgagga gctgctgcga caggagggac 2401 cccggcccga gcgctgcagc ttctcgccct ggacggagca ccgccgctgc cgccagcggg 2461 cttgcggact gctcactgcg tgagtcttct ctgcccccag aagcccagac gccctgcagc 2521 ggccctctcc tgctgcgggt cccgaaacta tcaatctggg ggcatggtgg gaggtcggct 2581 gtcccactct accattgggc atcttggggt tcccatccca gtctgcttca cccacactca 2641 ggttgagccc caacctcact ccccgcctac ctccttatcc tttgaggccc gaatcctggg 2701 aactggggga accggaggaa ttgggctagg gtacaaggat ctggatggaa tgaatgtaag 2761 gttctgtgac tcaagttacc cgggaacccc ggcccctgag ggcaggaaat gagtaaagag 2821 gaagggggct ggaagacagg cgcaggccgg tgcaggtttc cgtaccccaa gggggcagac 2881 gcaatccctc tcctggccac cgcagccgaa cgcgctcctt cactgcagcc agtcccgtcg 2941 agccgtcccc accttcccga tgcgcactct ctcctcaacc ctgcagggaa ggcgaagaat 3001 ggcaaaggct ccgcagtctc ctggccccgc tcctcctccg gcctcaagcg gccgcccgct 3061 acgccggaac cctgaacaac gtagtctgcg accttgtgcg gcgtctgagg cgccagcggg 3121 gacgtggcac ggggccgccc gccctggttc gggacgtggc gggggaattt tacaagttcg 3181 gactggaagg tgagtcccag gacagagctg ggcaggcgtc gggggcgccc taccagagcc 3241 tcccggaacc ctgacggcgc cccctcccga caaggcatcg ccgcggttct gctcggctcg 3301 cgcttgggct gcctggaggc tcaagtgcca cccgacacgg agaccttcat ccgcgctgtg 3361 ggctcggtgt ttgtgtccac gctgttgacc atggcgatgc cccactggct gcgccacctt 3421 gtgcctgggc cctggggccg cctctgccga gactgggacc agatgtttgc atttggtaag 3481 gcacaggtcg aggtggaaat gggggaatgt aaagctgtcc aggggtagcg aggtattcac 3541 gtgccttcta cccacgcagc tcagaggcac gtggagcggc gagaggcaga ggcagccatg 3601 aggaacggag gacagcccga gaaggacctg gagtctgggg cgcacctgac ccacttcctg 3661 ttccgggaag agttgcctgc ccagtccatc ctgggaaatg tgacagagtt gctattggcg 3721 ggagtggaca cggtgaggtt ctccctccgt gctgtgagcc ggttccaggg cttagcctcc 3781 gcagactccg gctccatttt tctgttgcag gggatccatt atggccacgt agaccagctt 3841 ggcttagcac cctgtagccc cagactcttc cataatctgc accctctgct gggttctcac 3901 acccaacacc tctcttgctt tcacatgttt ttcaggtgtc caacacgctc tcttgggctc 3961 tgtatgagct ctcccggcac cccgaagtcc agacagcact ccactcagag atcacagctg 4021 ccctgagccc tggctccagt gcctacccct cagccactgt tctgtcccag ctgcccctgc 4081 tgaaggcggt ggtcaaggaa gtgctaaggt gagggggaag gagaggagga acaagaggaa 4141 atgccaagga agggctgggg aagcaactag tggatggaag cagggagata gcagagaaaa 4201 atggccctct actcctggcc aaaaagggtt tggaagttgg aaacaatgag aagggggctg 4261 cagcccctag cctcatcttg ttgtctccat tttgtgcttt gcaacctaga ctgtaccctg 4321 tggtacctgg aaattctcgt gtcccagaca aagacattca tgtgggtgac tatattatcc 4381 ccaaaaatgt gagtaaagcc tatgcaccct ttctactgag ccattcctca ctatcttggg 4441 ccccaaccct gttctcaaac actctcctaa aagcccttca aacactcccc ttgacccctc 4501 tctaggatat gcctttctag gatgtaatgg aacagtgggg agatccttcc aaaagtagcc 4561 ccagaaaact tccccatcac ccaccaggac ctgcctttgt ccctgtctga atatcctctt 4621 cttcatgcct gccctattct gagcccaaac tgacaagttt gttttccttt gcaccagacg 4681 ctggtcactc tgtgtcacta tgccacttca agggaccctg cccagttccc agagccaaat 4741 tcttttcgtc cagctcgctg gctgggggag ggtcccaccc cccacccatt tgcatctctt 4801 ccctttggct ttggcaagcg cagctgtatg gggagacgcc tggcagagct tgaattgcaa 4861 atggctttgg cccaggtgag tgctctagat tttatacctt ccccagactg gagagaccct 4921 aaccctctaa agttgtgagc tctttcccct gacaagcata ggaaatcata taagacctgg 4981 tagaatgaat cttctgaaat atgataagcc cattataggc ctggagtgta agtgagggta 5041 ttcaaactat tttttcccta ccataatccc tcacccttat taaccaagaa gtcccctact 5101 ggccacaggt gccacccaat cattgaccat tctaacacta ataatgcatg ccctttacca 5161 attggattac caatgaatcc ccccattata gatatctttc atagtaatgc tcaccttctt 5221 ccctttccag atcctaacac attttgaggt gcagcctgag ccaggtgcgg ccccagttag 5281 acccaagacc cggactgtcc tggtacctga aaggagcatc aacctacagt ttttggacag 5341 atagtcccat ggaaagagac tgtcatcatc accctttcat tcatcatagg gataagattt 5401 tttgtaggca caagaccaag gtatacatct tcccctaatg cctatctgac caaactggat 5461 agaaccacca tagtgaagtg tgaggcggcc ctgaccaatg tgtgaagtat gcacttggcc 5521 tgactcagga agccaggtga gaaaaccatg gtctctctgc ttgcttggcc cttctgatca 5581 tgtatgcatc ccccaaggat gaaatcagat tttaactaat aatgctggat ggcctgagga 5641 aagattcaac tgcctctctt tttgggcttt catagtgttc attgatgctg ctggctaagc 5701 atttatcaaa gcataagctc agtaactgtg catctggtct gtacctggtt ggtccttcgt 5761 ctttgcatgt aagctctttg agaggaaggg tgaagcctta tttgtttttt atgtcccctg 5821 ccagggcctg tctctgacta ggtgtcacca tacacattct tagattgaat ctgaaccatg 5881 tggcagaagg gataagcagc ttacttagta ggctctgtct acccccttcc ttctttgtct 5941 tgcccctagg aaggtgaatc tgccctagcc tggtttacgg tttcttataa ctctcctttg 6001 ctctctggcc actattaagt gggtttgccc catcacttag ttctcaggca gagacatctt 6061 tgggcctgtc cctgcccagg cctctggctt tttatattga aaatttttaa atattcacaa 6121 attttagaat aaatcaaata ttccattctt gattttgact tatttctctc atattcccac 6181 ttcctacaag acctggaggc aagactctaa ccctcccatc tcccaccttg gtttctcagg 6241 tcctgggggt gacccccata acaatgggag gtctggacgc ctggaagagt agtttgtaac 6301 acaaacccag acatgtttct gtctgtagtg ggaacatcca agtctagtct ggcttcctgt 6361 aagagattaa gggggtgggg ggtgaaaagt aacggcaggg gctaagctgt aaaatgggcc 6421 cggagctagg gatttgcaga catgggcaga ggttgctgac tctggtaagg aaagtgcttt 6481 tggactgcca ggattgaagg aagtcctaga ttggtcactt tgccctctct ggaaaagttg 6541 ttccaagata atttccttca gaggaaggga tacaagcaga gaagtggaat cagacagaca 6601 gaatgaaagc tgagtgtggg ggtggccaga agccctgggg cactgaggca ggataagggc 6661 ggtgggcaga gggagactgt ttccctaagt cagcattctc tggcccccca gaggctgggc 6721 acagctctcc tcttgtgatg tatacagatt aactcatctt ccatccaaat aaatctctca 6781 gcacactgca cagttccttc tgcatcccag attacccttc ccatgtcagg acttgccccc 6841 cttcccctac cgctcaccct attccaatta gctgggtgta gatggagatt tcacttcaca 6901 cttcttcctc ctccacacct tggcctcctg gcctagacat ggctccctga ccgcagaaac 6961 tccagtagcc accaggcctt ttgcaggggc atctaattat gcaagatcta cagaggggca 7021 gggcagaccc aaagcctcgt acaaagatca aggtttctgt gcattttctg cccttctcaa 7081 ctccttccct actgtatact cagtctccac ccctattcct ctatcactga actcaatttg 7141 aacctaaatg accaaatttt cagcagattt gatctttgag ggagaataaa gcccagcttg 7201 tcagaccctt taccctggaa tcagtgatga gaattctgcc catccgtact ccctattttc 7261 cactgggcaa gtaggaatgc ccacttgaag agggcagcag ttcccatgac cctttcctgg 7321 acaatgatct ttttaagttg gaaaaaggaa gaagaggaga ccatactgat tgctggcccc 7381 aactcccata ccaagacttc cattagtgct gaaggagagg ggaaagtgtc ccacttggcc 7441 tcattttagg acccagagtg taaatggata cagtgtgttt gtgtgtgagt atgtctattt 7501 tctttggtat gtctaacctt ccctgcagag ccatcacaga ggacagctca ggcttggcac 7561 aggaagctcc acatgtgtcc tatctac //