LOCUS AOC2 8786 bp DNA linear PRI 09-MAY-2005 DEFINITION Homo sapiens AOC2 amine oxidase, copper containing 2 (retina-specific) (AOC2) gene, complete cds. ACCESSION AOC2 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 8786) AUTHORS Livingston,R.J., Rieder,M.J., Shaffer,T., Bertucci,C., Baier,C.N., Rajkumar,N., Willa,H.T.., Daniels,M., Downing,T.K., Stanaway,I.B., Nguyen,C.P., Gildersleeve,H., Cassidy,C.M., Johnson,E.J., Swanson,J.E., McFarland,I., Yool,B., Park,C. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (09-MAY-2005) 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..8786 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" variation 467 /frequency="0.01" /replace="C" variation 595 /frequency="0.01" /replace="A" variation 629 /frequency="0.01" /replace="T" variation 632 /frequency="0.02" /replace="A" variation 994 /frequency="0.01" /replace="G" repeat_region 1230..1448 /rpt_family="MIR" /rpt_type=dispersed variation 1326 /frequency="0.01" /replace="C" variation 1431 /frequency="0.04" /replace="T" variation 1571 /frequency="0.01" /replace="A" variation 1622 /frequency="0.01" /replace="T" variation 1822 /frequency="0.01" /replace="C" variation 1909 /frequency="0.04" /replace="G" gene 1955..8064 /gene="AOC2" mRNA join(1955..3577,6449..6734,6964..7093,7445..8064) /gene="AOC2" /product="AOC2" variation 1963 /gene="AOC2" /frequency="0.01" /replace="C" CDS join(1990..3577,6449..6734,6964..7093,7445..7711) /gene="AOC2" /codon_start=1 /product="AOC2 amine oxidase, copper containing 2 (retina-specific)" /translation="MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRA QPWPHPGQSQLFADLSREELTAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPK AAALAHLDRGSPPPAREALAIVLFGGQPQPNVSELVVGPLPHPSYMRDVTVERHGGPL PYHRRPVLRAEFTQMWRHLKEVELPKAPIFLSSTFNYNGSTLAAVHATPRGLRSGDRA TWMALYHNISGVGLFLHPVGLELLLDHRALDPAHWTVQQVFYLGHYYADLGQLEREFK SGRLEVVRVPLPPPNGASSLRSRNSPGPLPPLQFSPQGSQYSVQGNLVVSSLWSFTFG HGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTMLTRYLDSSFGLGRNSRGL VRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGGLA SSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVG ERVLGTVHTHAFHFKLDLDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLG KEDLTAFSLGSPLPRYLYLASNQTNAWGHQRGYRIQIHSPLGIHIPLESDMERALSWG RYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFINNETLLGEDLVAWVTASFLHIP HAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVYFEKGQDAGLCSINPVACLPD LAACVPDLPPFSYHGF" variation 2002 /gene="AOC2" /frequency="0.01" /replace="G" variation 2054 /gene="AOC2" /frequency="0.01" /replace="G" variation 2411 /gene="AOC2" /frequency="0.01" /replace="T" variation 2807 /gene="AOC2" /frequency="0.01" /replace="A" variation 3270 /gene="AOC2" /frequency="0.01" /replace="T" variation 3812 /gene="AOC2" /frequency="0.01" /replace="T" variation 3846 /gene="AOC2" /frequency="0.01" /replace="C" variation 3908 /gene="AOC2" /frequency="0.03" /replace="G" variation 3974 /gene="AOC2" /frequency="0.01" /replace="A" variation 4068 /gene="AOC2" /frequency="0.01" /replace="G" variation 4098 /gene="AOC2" /frequency="0.01" /replace="T" variation 4138 /gene="AOC2" /frequency="0.03" /replace="T" variation 4369 /gene="AOC2" /frequency="0.01" /replace="T" variation 4452 /gene="AOC2" /frequency="0.01" /replace="T" variation 4509 /gene="AOC2" /frequency="0.03" /replace="G" variation 4541 /gene="AOC2" /frequency="0.01" /replace="A" variation 4649 /gene="AOC2" /frequency="0.07" /replace="A" variation 4783 /gene="AOC2" /frequency="0.01" /replace="" misc_feature 4893..6214 /gene="AOC2" /note="Region not scanned for variation" repeat_region 4990..5145 /rpt_family="Alu" /rpt_type=dispersed repeat_region 5146..5428 /rpt_family="Alu" /rpt_type=dispersed repeat_region 5429..5514 /rpt_family="Alu" /rpt_type=dispersed repeat_region 5761..5887 /rpt_family="MER1_type" /rpt_type=dispersed repeat_region 5930..6213 /rpt_family="Alu" /rpt_type=dispersed repeat_region 6214..6270 /rpt_family="MER1_type" /rpt_type=dispersed variation 6651 /gene="AOC2" /frequency="0.01" /replace="T" variation 7282 /gene="AOC2" /frequency="0.01" /replace="G" variation 7331 /gene="AOC2" /frequency="0.01" /replace="T" repeat_region 7926..8085 /rpt_family="L1" /rpt_type=dispersed variation 8010 /gene="AOC2" /frequency="0.03" /replace="A" variation 8270 /frequency="0.03" /replace="C" variation 8395 /frequency="0.01" /replace="" variation 8450 /frequency="0.02" /replace="A" variation 8683 /frequency="0.01" /replace="G" variation 8720 /frequency="0.01" /replace="G" BASE COUNT 2002 a 2267 c 2229 g 2288 t ORIGIN 1 aagcaatcat tggtgtgtat gtgtatgtgc atgcacacac gtgcatatac acatttgtgt 61 atgtggaaat gtgctgggca agtcaaaact atagaagagt tgcctcctgt ctctcgaatc 121 ttccagagat atcacttaat tgttaacagc ttttgtgtta atccccttca gcccctagct 181 cttttattct accacggctg gagagttgat acctgcagtc agcctgccag tgactcttag 241 tgtctgtttc tgacttattt ttcctgtctc tgtcttccaa cccccaataa tatttccacc 301 ggggatgcat catttttact cccaatattc tgtagagagg gagtcaggat gctgtcttcc 361 cacgaatagt actcagtaac aaaccaattg cattttagtt gggcagtgct cccacccacc 421 ctccagatcc cttccagcta aaacccttcc cccttccctc catgtgtttc tcagtttccc 481 gtttcgtttg ttggactgtt ccactgcccc tcctcctcac cctatcaccc atggatcgta 541 atgtaaaatt cttttaccat gtcaagaaat tattaaaaat acaggtactt tgacctcttt 601 ctaaagccgc agaccctggt gcaatgctct ggtggctagg gatgtactca tgctcatatg 661 tgtgcacgct tggacaccca cctccatgga cacctagcca ccctgttgtg tgtccttatg 721 ccagttgagc tgaatctttt ccccagtata gtggaaagac tgaggcttct gcctactgag 781 caaggttggg tgcttcattt gtgttcagtc tgaattatgg gaaagttagc tcttcccaga 841 cctaagctgc cttctctccc tactttcaga agatcctagt tccttccttc ccgagtgata 901 cccatgaact gccagtagag gctgctatcg ttccatgtgt aaggaatgaa ctggttcaag 961 gcgcgtccta cccagtcatt ttctttacct tatactaatt cttcctgaat aatgtcttca 1021 gtttcttgag gagactccta gttttggttt tcaaattact tggagggctg cctaggaatc 1081 tatctccctc tgaaataaag tttcctcatc ttccaccttg caagtagcct tctggtttcc 1141 aatgatcccc tcgttgtctc tgtaaaaaga gtttaaggtc ttgaacaatg gaggagcagc 1201 tgctctgttc tgtttcagag atgactacca aaagctagcg gtttgtgagt gcctcccctg 1261 tgccaggctg ttaagtacct aatgtgcatg atcacattta atcttcagga atctatagga 1321 tagttgtatc tatttgttac agatgaggac actgagactc aggataagta tttccgctaa 1381 ggttacacag ctgagggaac tgggattggt ggacaaacct gattactaag cccaggccct 1441 cagccactcc actggttgga aatggcctga ctacaaatca agggcttggc attaggcaac 1501 aagtagaatt cagtgcttac tgctgaacat ggcagtgaat cctggagctg ttgggatgca 1561 gttcctgcca ggaggtagga aaatggacag cttagtgctt gcatgcaggc tgcagaactt 1621 aattgggcat ctgaggtttg tactcttcct gagacccatt ccaggtggaa actggaggtt 1681 agcatcgtta acccagattc cctttcatct ggtctaaatg atggaaatca gtagttggta 1741 ctgactgcta ccagtgggag ttcaggggca aggaagaggc tatgcatgtg gaagcagtgc 1801 cctgggccaa accacaggac agaaaattgg aacagaatta cataaatcaa ggtcagaaat 1861 ttcctgccca acccatgggg tggagttttc tcccttccta tccatcctag cgaatataaa 1921 ccccgacttg atgtcagtaa ctggaaggag cagctgttag aattctgatt tcagctctca 1981 gcatccacca tgcatctcaa gatagtcctg gcgttcctgg cactgtccct cattaccatc 2041 tttgccctgg cctatgtttt gctgaccagc ccaggtggtt ccagccagcc tccccactgc 2101 ccctctgtat cccatagggc ccagccctgg ccacaccctg gccagagcca gctgtttgca 2161 gacctgagcc gagaggagtt gacagctgtg atgcgctttc tgacccagcg gctggggcca 2221 gggctggtgg acgcagccca ggctcagccc tcggacaact gcatcttctc agtggagctg 2281 cagctgcccc ccaaggctgc agccctggcc cacctggaca gggggagccc cccacctgcc 2341 cgggaggcac tggccatcgt cctctttggt ggacaacccc aacccaatgt gagtgagctg 2401 gtggtggggc cgctgcctca cccctcgtac atgcgggatg tgactgtgga gcgtcacggc 2461 gggcccctgc cctatcaccg tcgcccggtg ctgagagctg agtttacaca gatgtggagg 2521 catctgaaag aggtggagct acccaaggca cccatcttcc tgtcgtccac cttcaactac 2581 aatggctcta ccctggcagc tgtgcatgcc acccctcggg gcttgcgctc aggggaccga 2641 gctacctgga tggccctcta ccataacatc tcaggggttg gtcttttcct tcaccccgtg 2701 gggctggagc tactactgga ccacagggcc ctggaccctg cccactggac tgtccagcag 2761 gtcttctacc ttgggcacta ctatgcagac ttgggccagt tggaacggga gtttaagtct 2821 ggccggttgg aagtggttag agtccctcta cctccaccaa atggagcttc atccctgagg 2881 tctcggaact ctccaggtcc tcttccccct cttcagttct cgccccaggg ttcccagtac 2941 agtgtgcaag gaaacctggt ggtatcctcc ctctggtcat ttacctttgg ccatggggtg 3001 ttcagcggcc tgaggatttt tgatgttcgg ttccagggtg agcgaatagc ctatgaagtc 3061 agtgtccagg agtgtgtatc tatctatggt gccgattcac ccaagacgat gctgactcgc 3121 tatttggata gcagctttgg actcggccgt aacagccgag gcttggtgcg gggagtggac 3181 tgcccctatc aagccacgat ggtggacatc catatattag tgggcaaagg ggcagtccag 3241 ctgcttccag gggctgtgtg tgtatttgag gaagcccagg gactgcccct tcgaaggcac 3301 cacaattacc ttcaaaatca tttctatggt ggtttggcca gctcagccct tgtggtcagg 3361 tctgtgtcat ctgtgggcaa ctatgactac atttgggact ttgtgttgta cccaaatggg 3421 gcacttgaag ggcgggtcca tgccacgggt tatatcaaca cagctttcct gaaaggggga 3481 gaggagggcc tcctctttgg gaaccgtgtg ggggaaagag tgctgggaac ggtgcacaca 3541 catgccttcc acttcaagct ggacctggat gtggcaggtg agtgctgagg ggatgaggat 3601 ggagacttgg gggcggggtc aggtggggtg gagggaaggg aagggaatct cccaggtcaa 3661 gctgaaataa caagtggcaa gagcagggtg ttccaacacc acagctctag tggcaacagg 3721 gcagggactg tttgagcata ttcagtgcag tgagtctggt actgggctac tgggtatctg 3781 gtaaaaggtg aaaagagttc ccccgcccag cccctctgac ttgctatgat tgtgaaacta 3841 gtttaaatgt aatggctggg catgattgcc ttagcctcaa gtgacactgg gtgggtgaac 3901 tggcccaatg gggctggagt tggagcactt tgcttcttcc taattctgag ggtcagtagg 3961 ggtggggagg gcagggtcct gagccgaggt cggaagaagt ctgtccagag tcttcagggt 4021 gggggtcgac ctggggctta ggaaggagag ggtagcaaag ctggggttgc tccccaggat 4081 agggccactc ctcatcggga gggccatccc attcctgtca tcacagttga ctcatggcag 4141 gcacacagct tgctgcaagt atggaaagag atttctcaag cacaaagggc tcaaagcaca 4201 cagaggactt gctgttcctg acagactttg tcaaggacag aaaggaactt acagactcac 4261 acactgatcc acaaagaaaa ttagaaactc accagaccct ctccatttta agggaaacta 4321 aggagggtgg cgggagatgg gacaggaaat gactgcccaa gtataatgca acataaacta 4381 gtatttcttg tgaaatgttt tcttatcctc aagtctaaag acatggcacg tgcgtgcctg 4441 cgtgtgtctc tgtgcatgca cttgcacttg tgttcgcagt ggtgtggagg gtaggaagga 4501 ctaatagcat gattgaaatg atcatattaa ctagattact ctttgacata cttggatttt 4561 gacttgtctt ctgattggaa gtttttcttc agcatctttg gcattaaaga ggcttgtttt 4621 gggaagtaac atttattgga cccctagcgt gtgcagcatg ggctgctgct gtgggccaga 4681 gaggctgtgt caggcaccag ctcacaggat ggctgcagag gcaccagctt cagtgcagtg 4741 cctcccgtgc caggtacctt catataggtc tcgttgaact tacagtccag acctgcagaa 4801 agtgtatgac caagtgctga gttaggcagt gcaggttatg gatgctgtag aattccaagg 4861 aactcccaga caaaggtatg aatgtgcttg cttctgaaaa acactgacag tacttcccac 4921 cttgctgaga tcaaaagtga agtctcagag ctgggaggag tatgcagggg accatgggaa 4981 gggattgggt tttctttttt tgaggcagtg tctcactgtc acccaggctg gagtgcagcg 5041 gtgcaatcac aggttactgc agccctgacc tcctgggctc aagcaatcct cctgcctcag 5101 cctccttagt agctgggatg acaggcatac actaccacgc ccagcttttt tttttttttt 5161 gaagacagag tctcactctg ttgcccaggc tggagcacgg tggtgcaatc tcagttcacc 5221 gcaacctcca cctcccaggt tcaagcgatt cttgtgtctc ggcctccaga gtagcacacc 5281 accacacctg gctaattttt ttaaattatt tatttattta agtagagatg gggtttcacc 5341 atgttggcca ggctcatctt gaactcccgg tctcaagtga tccactcgcc tcggcttccc 5401 aaagtgctgt gagctaccat gcccggcctt tttttttttt tttttttttt ttttaagagg 5461 cagtgtttca ttccgttacc ccagctggtg tccagcacct gggttcaagg gatctgcatc 5521 accctgccac cagcctcctg agttgcaagc tgccacaccc ggctcaggag tcagtttttc 5581 agctagcttc tccaagacaa atatcattat ccctttcata gttaaaagaa tgtcactagt 5641 cagctgcaag tgcttttctg tttattgggc acagccatag aacagcttta attatgccca 5701 gtgtagggat tcagaaagtg aatcagagaa gcaaattggt ccagggactg tttggtagtc 5761 cagtgctaat agaactttct gtagtgatag aaatattccg tatttgagct gtggctctaa 5821 acaatagtca ctagccatgt gtggcaactg ggcacttcaa gtgtggctag tgtgacagag 5881 gaactgaata tatatatata tatatataca tatatatata tatatatatt ttagacagag 5941 tcttgctctg ttgcccaggc tagagtgcag tggtgtgacc tcagctcatt gcagccacaa 6001 cctactgggc tcaagcaatc ctcctacccc agcttcccaa gtaactggga ccacaggcat 6061 gtaccaccat gcctggctga tttttttatt gtttgtagag tcagggtttc accacgttgc 6121 acaggctggt ctcaaactcc tgggctcaca tgatccaccc gcctcagcct cccaaagtgc 6181 tgggattgca ggtgtgagcc acctcagctg gccctaagtt ttaattttca tagccacgtg 6241 tggctagtgg ttaccctatc ggatagggca agttggaaga agataggagc ttgctcttgc 6301 ccagacctcc tggctcccag cacagtgtgc tctgatgctc tctctgcctt ttgtcacacc 6361 agtgcagtgg acatcatggg gaagacaggg acctggccca gagaccttac ctggtgtgga 6421 actcatctcc tttccctccc cctggcaggg ctgaaaaact gggtggtagc tgaagacgtg 6481 gtgtttaaac ctgtggctgc cccctggaac ccggagcact ggctacagcg cccacagctg 6541 actcggcagg tcctgggaaa ggaggacctg acagcttttt ccttgggaag ccccctaccc 6601 cgctacctct acctggctag caaccagact aatgcgtggg gtcaccagcg cgggtaccga 6661 atccagatcc acagccccct tggcatacac atacccctgg agagtgacat ggagagggcc 6721 ctcagctggg ggaggtgagg agggccctgg cctgggtgga aggaaaggac agcccctccc 6781 ctgccccagt ccttggagac aaactccctt cccacggcta ccattcatcc ctgtacctcc 6841 cctcaaaccc aagttagata cacggtggga aatggtctca cacagaatcg gatctaaggg 6901 actcctgggc cagtaaaggc acttgacatt tcccaaaacc accttcttat gattcctggc 6961 cagataccag cttgtggtga cccagagaaa ggaggaggag tcacagagca gtagcatcta 7021 tcaccagaat gacatctgga cacccacagt tacctttgct gacttcatca acaatgaaac 7081 cctcttagga gaggttggtt gccctaggga cataggaaag ggacacctgt gggcatggca 7141 tcttggctgc ccagcctctg gccaaaggtt agagggaatg gctgatttcc agttcgcaga 7201 ttcagaggcc atggagtttt ctgatgacca acacaggtca tccctcctgg ggtgagatta 7261 gctctgggac actggctccc ccctctcccc gcacagctgc ttacatggat tgctccacgt 7321 gttgtatggg catgaggctg gggagagtgg aagccaggct gagactggag gctgggattg 7381 tgactgaagg gtggttcttt gggtcacgct tccatagtcc tccagctcct ccttcttctt 7441 gcaggatctg gtggcttggg tcacagccag cttcctgcac attccccatg ccgaggacat 7501 cccaaacaca gtgactctgg ggaacagagt tggcttcttg ctccgaccct ataacttctt 7561 tgatgaggac ccctccatct tctcccctgg cagtgtctac tttgagaagg gccaggatgc 7621 tgggctctgc agcatcaatc ctgtggcctg cctccccgac ctggcagcct gtgtcccgga 7681 cttaccccct ttctcttacc acggcttcta gtcctgaggg tgtggcgggc ggcgtggtta 7741 ggcacatgta cttttccctg tttctacttt ctattctccg tgtttttatc acacctgctc 7801 cccagattcc caccccctca atgttcctct cacacgaaac ccccatcagt ccctttggtt 7861 aattcttact tcctgttcat ctctaaagtg ttaaattata aaaatgattt ttaaatattc 7921 aaagaaaaat atcacaaatc ctactactca gaaataggtg gtcacattac atcagacatc 7981 tctttatgca tgtgcattca aaaggaagag tagatagaat tttgtaaaac agatgttgta 8041 tgtaatttat aataaaaagt attagaggaa ttttacttga atttattgtt tgacctgtta 8101 agtatctaga gtcctctgga gaatactaag gagtctggcc agggaaatta gcgctggggg 8161 ccagagggca agggggatag acctggccaa ggaatgtcat ttggaaagct aaaggggcag 8221 ggggtggggg tctttggaag gaaaacgata gtttgaagtt acaggaaaat atctggccct 8281 gactaagtgg gggactgggg aagaagctgg gctgaggtca ggagaggctg ctctgcacag 8341 atcctgctcc ttcccagtgc tgcattatct tgaaattttc cttccccttc cccctagccc 8401 caactctccc caactccaac cctgacccag aaagtagagt gatttggagg ctggaagaca 8461 aaaccatgta aggtctgtgg aaatcacagc tgttcagacc cgcctccaac cccggccacc 8521 ccgccccctt gccctagcct tcctgtgtcc ttcccaccct tagtcccagg catctgacta 8581 ccgggaacct cagccagagt ccgggagccc cccaccccgt ccaggagcca acagagcccc 8641 cgtcttgctg gcgtgagaat acattgctct cctttggttg aatcagctgt ccctcttcgt 8701 gggaaaatga accagaagac aatcctcgtg ctcctcattc tggccgtcat caccatcttt 8761 gccttggttt gtgtcctgct ggtggg //