LOCUS ALAD 8809 bp DNA linear PRI 09-JUN-2003 DEFINITION Homo sapiens ALAD: aminolevulinate, delta-, dehydratase (ALAD) gene, complete cds. ACCESSION ALAD 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 8809) 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 (09-JUN-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..8809 /organism="Homo sapiens" /db_xref="taxon:9606" variation 103 /frequency="0.01" /replace="A" repeat_region 400..427 /rpt_family="L1" /rpt_type=dispersed repeat_region 428..742 /rpt_family="Alu" /rpt_type=dispersed variation 596 /frequency="0.10" /replace="T" variation 642 /frequency="0.21" /replace="C" repeat_region 743..854 /rpt_family="L1" /rpt_type=dispersed variation 915 /frequency="0.90" /replace="" variation 941 /frequency="0.01" /replace="C" repeat_region 963..1257 /rpt_family="Alu" /rpt_type=dispersed variation 997 /frequency="0.14" /replace="G" misc_feature 1247..1554 /note="Region not scanned for variation" repeat_region 1274..1573 /rpt_family="Alu" /rpt_type=dispersed repeat_region 1607..1773 /rpt_family="MER1_type" /rpt_type=dispersed variation 1722 /frequency="0.01" /replace="T" gene 1888..7313 /gene="ALAD" mRNA join(1888..2066,3350..3400,3896..3992,4586..4721, 4843..4926,5026..5114,5691..5746,5833..5920,5995..6081, 6413..6542,7158..7313) /gene="ALAD" /product="ALAD" CDS join(1954..2066,3350..3400,3896..3992,4586..4721, 4843..4926,5026..5114,5691..5746,5833..5920,5995..6081, 6413..6542,7158..7219) /gene="ALAD" /codon_start=1 /product="ALAD: aminolevulinate, delta-, dehydratase" /translation="MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDI QPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAI EAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKA GCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAF GDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVY HVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE" variation 2025 /gene="ALAD" /frequency="0.01" /replace="T" variation 2124..2129 /gene="ALAD" /frequency="0.79" /replace="" variation 2249 /gene="ALAD" /frequency="0.05" /replace="C" variation 2369 /gene="ALAD" /frequency="0.01" /replace="C" variation 2371 /gene="ALAD" /frequency="0.06" /replace="T" repeat_region 2402..2707 /rpt_family="Alu" /rpt_type=dispersed variation 2411 /gene="ALAD" /frequency="0.06" /replace="T" variation 2663 /gene="ALAD" /frequency="0.04" /replace="A" variation 2666 /gene="ALAD" /frequency="0.15" /replace="G" repeat_region 2725..2830 /rpt_family="MIR" /rpt_type=dispersed repeat_region 2839..2966 /rpt_family="L2" /rpt_type=dispersed variation 2963 /gene="ALAD" /frequency="0.01" /replace="T" repeat_region 2975..3099 /rpt_family="MIR" /rpt_type=dispersed repeat_region 3416..3707 /rpt_family="CR1" /rpt_type=dispersed variation 3700 /gene="ALAD" /frequency="0.05" /replace="A" variation 3899 /gene="ALAD" /frequency="0.30" /replace="C" variation 3908 /gene="ALAD" /frequency="0.05" /replace="C" repeat_region 4030..4319 /rpt_family="Alu" /rpt_type=dispersed variation 4113 /gene="ALAD" /frequency="0.01" /replace="T" variation 4231 /gene="ALAD" /frequency="0.01" /replace="T" variation 4256 /gene="ALAD" /frequency="0.01" /replace="A" variation 4410 /gene="ALAD" /frequency="0.12" /replace="A" variation 4447 /gene="ALAD" /frequency="0.39" /replace="A" variation 4549 /gene="ALAD" /frequency="0.06" /replace="C" variation 4733 /gene="ALAD" /frequency="0.06" /replace="T" variation 4809 /gene="ALAD" /frequency="0.13" /replace="C" variation 4859 /gene="ALAD" /frequency="0.06" /replace="T" variation 4908 /gene="ALAD" /frequency="0.10" /replace="C" variation 4993 /gene="ALAD" /frequency="0.01" /replace="T" repeat_region 5199..5484 /rpt_family="Alu" /rpt_type=dispersed misc_feature 5215..5446 /gene="ALAD" /note="Region not scanned for variation" variation 5802 /gene="ALAD" /frequency="0.02" /replace="G" variation 5974 /gene="ALAD" /frequency="0.01" /replace="T" variation 6232 /gene="ALAD" /frequency="0.01" /replace="" variation 6253 /gene="ALAD" /frequency="0.01" /replace="T" variation 6272 /gene="ALAD" /frequency="0.18" /replace="T" variation 6298 /gene="ALAD" /frequency="0.01" /replace="G" variation 6349 /gene="ALAD" /frequency="0.01" /replace="A" variation 6353 /gene="ALAD" /frequency="0.01" /replace="T" variation 6371 /gene="ALAD" /frequency="0.01" /replace="T" variation 6576 /gene="ALAD" /frequency="0.01" /replace="A" variation 6608 /gene="ALAD" /frequency="0.49" /replace="C" repeat_region 6739..6859 /rpt_family="MIR" /rpt_type=dispersed variation 6786 /gene="ALAD" /frequency="0.01" /replace="C" variation 6893 /gene="ALAD" /frequency="0.04" /replace="C" repeat_region 6944..7058 /rpt_family="MIR" /rpt_type=dispersed variation 7325 /frequency="0.01" /replace="G" variation 7335 /frequency="0.01" /replace="C" misc_feature 7385..7961 /note="Region not scanned for variation" repeat_region 7881..8421 /rpt_family="L2" /rpt_type=dispersed variation 8090 /frequency="0.02" /replace="A" variation 8226 /frequency="0.01" /replace="C" variation 8314 /frequency="0.01" /replace="T" repeat_region 8496..8731 /rpt_family="L2" /rpt_type=dispersed variation 8691 /frequency="0.01" /replace="T" variation 8692 /frequency="0.01" /replace="A" repeat_region 8726..8805 /rpt_family="MIR" /rpt_type=dispersed BASE COUNT 2183 a 2211 c 2389 g 2025 t 1 others ORIGIN 1 tatttactgt gtgccaaggt cagtgtgtga cagagcactg taggggaggc aaaaatgaac 61 caactctgga ccttgccctg cagaagctct gtctactggc atgaggtaag acaggtccac 121 agataactta cataagagag actgcaatct ggacaagaca gcctcagtgg gagagggaag 181 gagaaccctg tagatttggg tgcggggagg ctgtggggag agcacagcct ttcaggtaaa 241 gggacaaggt taggaaagca agaaggtgta gcttgtgctc gtggagccca ggaaactcct 301 tgggctagaa aagatttggt ggcactctat acagtgtatg tgtctgtctg tctatctaac 361 atgaatggta ctattttctc ctattggtgt gcattgtacc taacaaaaaa tccatgtccc 421 aagtactttt ctcttttctt tctttctttt tttttttgga atgaagtctt gctctgtcgc 481 ccaggctgga gtgaagtggc gctatctcgg cttactgcaa cctcctcctc ctggattcaa 541 gcagttctcc tgcctcagcc tccccagtag ctgggattac aggcacgcac caccacgccc 601 agctaatttt ttttgtattt ttagtagagg tggggtttaa ctgtgttggc caggctggtc 661 tcgaactcct gacctcaagt gatctgccca tctcagcctc ccaaagtgct gagattatag 721 gtgtgagccg ccatgcccgg ccaacagtac ttttctctag aggtagaatt gcaggggatt 781 tttctctttt tgcttatctg cacttttcta aaagttctgc catgaacacg ggcatttttt 841 gtggaataaa caaagtttaa atgttggcta gatcagtgct tctttatgca taaggaagga 901 ttagttcttt ttttgtctat ttccaattta ttgattcttt gataaaatgc aatgcaataa 961 aattattatt tttttttaga gacgtctccc tctctcaccc aggctggagt gcagtggtgc 1021 aatcatagct tactgcaacc ttgaactcct gggctcaagc gatcctcttg ctttagcctc 1081 ctgagtagct gggactacag gtgtggacca ccacacctgg ctgattttta aactttttgt 1141 agatacaggg tctcgccatg ttgcccaggc tggtctcgaa ctcttgggct caagccatcc 1201 tgccacctca gcctcccaaa gtgccgggat tacaggcgtg agccaccatg cccagctaga 1261 aaattacttt tttggctagg caccgtggct cacgcctgta atcccggcac tttgggaggc 1321 tgaggcaggc agattgcttg agcccaggag ttcgagacca tcctgggaag catggcaaga 1381 cctccatctc tacaaaaaat tcgaaaatta gctggatgtt gtggtgcaca cctgcagtcc 1441 cagctacttg ggaggctgag ttgggagaaa cagttgagcc cgggaggtca aggctgcagt 1501 gagtcgagat tgcaccactg cactccagcc tgggcgacag agaccctgtg tgaaaaaaaa 1561 aaaaagaaga gaattttttt taaacagtca ttgcttgctc agatgtttac tttaaaagat 1621 aataatgaac aagaagcagt cacataaaat acaagcccaa attttatatc attagattct 1681 gattgtcatg aaagtttcta aagacttact ttcatttctc aacttacctt gttgaccagc 1741 agggattggt gaaccatgct gtgagtagca ttgggctaga gagaggggag gcaggaatct 1801 agaagagctg ttttccagat gtgaccatct cctgaggaca gggaccatgt ctcatgtgcc 1861 acccatcacc ccccacagac agagcctgca gccaatgccc caggagccct cggttccaac 1921 caactgatgc ccctgtgccc actggcccac gccatgcagc cccagtccgt tctgcacagc 1981 ggctacttcc acccactact tcgggcctgg cagacagcca ccaccaccct caatgcctcc 2041 aacctcatct accccatctt tgtcacgtga gtctccaaga atgggccagg cctctgctct 2101 gctggttggg gttggggttg gggttgggga gggagtgttg actggagcgg gcatcagtat 2161 ggctgggggt ggcaaagtga gctgtcagct tgaaattcaa ggcactggaa gcaggctact 2221 tggattaagg acaggaatct taggaacaaa acaaactttg aaagaactca ttcatcccat 2281 ttggaaaatt agaagaataa cccttgcctg ccatcctgag ctcttgcagt aagacagaag 2341 ctgagaaggt gctctgtaca ttgtaaagtg ctatgtacct gtaagagatg gcagtcattg 2401 aggctgggca cggtggctca cgcctgtaat cccagcactt tgggaggctg aggcaggcgg 2461 atcacgaggt caggagatcg agaccatcct ggctaatatg gtgaaaccct gtctctacta 2521 aaaacacaaa gaaattagcc aggcgtggtg gcgggtgcct gtagtcccag ctacttggga 2581 ggctgaggca ggagaatggc gtgaacccgg gaggcggagc ttgcagtgag ccgagattgc 2641 accacttcac tccagcctgg gcgacagagc cagactccat ctcaaaaaaa aaaaaaaaaa 2701 aaagagatgg caatcgtgat tgttaataat aatgcagaca tttactgagt acttactatc 2761 taccaggtac tatgctaagc acctacacac attatctcat tcaattctga gagcatttgt 2821 atgaagaagg agtagctatc ctctagaaca tcagctccat gagggcaggg atgtttgtct 2881 attttgttca ctgttgtatc atcagggcct agaacagtac ttggcacata ataagtactc 2941 aataaatatt tgttgaatga atgaattaac cacgcatgat atagatgaag gcctaaggct 3001 caaagagatg atagaacttg gccacggtca cccaggcagt aagtggctgg gatagaaagc 3061 aaggacctgc caaattcaga gtccaagttc ttaaccactt aattccttcc tgtaattacc 3121 gttcttttag tacagttgct agtgttgtca ctgttattct tgttgttcct attattattt 3181 caggccctgg gcttggccag gcagggaagc cagacactgg atcccatcct cctcccacca 3241 tctccacttc catatttctt tcctgcttcc caaccatccc tctcagtcgc ccccgcacca 3301 ctggcccttc ccacagctac caatccatat cccacccccg ctcttgcagg gatgttcctg 3361 atgacataca gcctatcacc agcctcccag gagtggccag gtaggagacg tggagttggg 3421 gggccagcgg gtggtggagg gagagattcc acaggtggaa gtgctgggag gcagaagcag 3481 acctaggaag tagaagatgc ggacagacag acattagctc agtagaggaa agggtttccc 3541 cggggccaga gctgttccac agtggaaggg gcagccccat aaagtaaaga gctacccatc 3601 acccgagacg tcgtggcaga ggctgttgca gaagggagct gaactgcaga tgggagttca 3661 aaaagagggc ctcgaaggag ccttccacag ccgaattccg gagctctgct actcagggcc 3721 tcagtcttcc ctcctattta gtggatgcat ccctgcccct tctgtcctgg gggcttgagc 3781 cctcctggtg ccatatgcag cttggtttct aacagaggca cacagtgtgg tggggtccgg 3841 aggaccgttg cctgggacct gccttccttc aacccctcta cccacaccca cacaggtatg 3901 gtgtgaagcg gctggaagag atgctgaggc ccttggtgga agagggccta cgctgtgtct 3961 tgatctttgg cgtccccagc agagttccca aggtgaagaa tcaaaggaag ggctaagaag 4021 ggaggttgcg ctcacgcccg taatcccagc actttgggag gccaaagtgg gtggatcact 4081 tgagcccagg attttgagac cagcctggac aacatggcaa aacccatctc tacaaaaaat 4141 acaaaagtta gctgggtgtg ggggtatgtg cctgtagtcc cagctactcg ggaggtggag 4201 aggtgggagg attgcttgag cccagaaagt cgaggctgca gtgagccaaa atcgcgccag 4261 tgcactctag cctgggtgac agagcaagac cctgtctcca atacaaacag aaaaaggaag 4321 ggaggttggg caaaggtgga ctgagggtcc acactgactg caccctcact cccacattgt 4381 gctggccctg gggccacagg tgaatggacg tggtctttgc ccttaagtca gcacccatgt 4441 agggtcggtc ctctgtgctt ccttatccag gggctgtgat gatgaaggaa ggagaaggcc 4501 agggctatgc tctgtgatgg ctgtcatcct gccttccaaa gctacatgta atagacacac 4561 tgctttgtcc ctcccctgcc cctaggacga gcggggttcc gcagctgact ccgaggagtc 4621 cccagctatt gaggcaatcc atctgttgag gaagaccttc cccaacctcc tggtggcctg 4681 tgatgtctgc ctgtgtccct acacctccca tggtcactgc ggtgagttcc ctccctccca 4741 ccagccctgc tgccacccac actcctactg cccacttctc aacagggtgg ggacaggcca 4801 gggcccaagg tgctccccaa aacccagtca tctgtcctga agggctcctg agtgaaaacg 4861 gagcattccg ggctgaggag agccgccagc ggctggctga ggtggcattg gcgtatgcca 4921 aggcaggtga gtgaaccacc agcagggatg ggcacctctg ggtcaggagg tggcagagtg 4981 gctaggaggg ccccagagtt ctgaaggcca ccctctgccc cccaggatgt caggtggtag 5041 ccccgtcgga catgatggat ggacgcgtgg aagccatcaa agaggccctg atggcacatg 5101 gacttggcaa cagggtaagg gcagggaatg cagcacaggg ctggcaggag atagtctgca 5161 ccagccctgc ccccgtgtct gctaagaatc acagaactgc cgggcgtgtt ggctcacacc 5221 tgtagtccca gcactttggg aggctgaggc aggtagatca cttgaggtca ggggttcaag 5281 accagcctgg ccaacatggt gaaaccccat ctctactaaa aacacaaaaa ttagctgggc 5341 gtggtggcag gcgcctgtan tcccagctac tggggaggct gaggcaggag aatcgcttga 5401 acccacgagg cagtgagctg agatcatgcc actgcacttc agcctggatg acagagctag 5461 actccatctc aaaaaaaaaa agaatcacag aactgaagac agtgctggat gaggctttgg 5521 ggaaccattt aaacctctgg gcctctgcag ggaaatcaag cccagcactc caacaggacc 5581 agaacacagg cagtctcctt cccagcctag gttctttctc tccctgccac atcaccctgg 5641 gatacctggc aagggccgaa taagccaaga cctccattgt ctccccatag gtatcggtga 5701 tgagctacag tgccaaattt gcttcctgtt tctatggccc tttccggtga gcaggggtgg 5761 gcaggggtct gctgtgaatc cctggccctt tggcccaaag ctggagccca ccctgatgac 5821 tctgctttgc agggatgcag ctaagtcaag cccagctttt ggggaccgcc gctgctacca 5881 gctgccccct ggagcacgag gcctggctct ccgagctgtg gtgagtgact aggacttgag 5941 ccccaccctc agccccctcc taggcaccac ccacattata ccctcatccc ttaggaccgg 6001 gatgtacggg aaggagctga catgctcatg gtgaagccgg gaatgcccta cctggacatc 6061 gtgcgggagg taaaggacaa ggtgagcaca ggtacgaggc aaagggggct cagggggctg 6121 ggacagagtt ttccacagac tctggaatct cagagttgga agcagtttgc ccttaagcat 6181 gcatcctctc ctccccttcc ctgcccagga accatcgtgg ccttctatgt cggggcttgc 6241 acgagcctca aacagccctg ctttaacagt tcaagagtgg gccaggctgc cagccgcagt 6301 aacccaggac acggggctca agatggtcac agattgagca ggggggaagg gacgcttcca 6361 gagccacatc caccctccat ttcagcctgt ctccctgtct gcttccctgc agcaccctga 6421 cctccctctc gccgtgtacc acgtctctgg agagtttgcc atgctgtggc atggagccca 6481 ggccggggca tttgatctca aggctgccgt actggaggcc atgactgcct tccgcagagc 6541 aggtaggcag gcaagggtgg ggtgttttga cctgcgccac agggactgat aagcactctg 6601 cctagattgg ggaacgacgt cctgagagct tgggatctta ttccgggaat tactagtgat 6661 ctaaacagac acacactgag gaagagatat ggaactgcag catagaacac ggcccggtga 6721 agcaagcaga gcccttcatt tttggttgtg agaacgtggg caagccactt ctctgaacct 6781 cagtgtcctc acccataact ggataactgg ggataagata cctggtgcgt ggttgtcctg 6841 aggattaaat gaagtaatat cactccataa aggggactca ttttgttaga attgcacacc 6901 agcatgggaa ggaacttgcc tcttacctat ttccttcact gtgcatttta ttctttggta 6961 aactgaggcc ccaaaagagg aaatgacttg cccaagaaat agagtttccc aaagctgggc 7021 tccgtctcat gtggtgtgcc cacaggctgt gcttcttcat ggtagccttc ttccccgcct 7081 ggccttccca tcgcagaagg tgtgctcaga gctgatcagc gtccccccag caactttctg 7141 catctctccc aacacaggtg ctgacatcat catcacctac tacacaccgc agctgctgca 7201 gtggctgaag gaggaatgat ggagacagtg ccaggcccaa gaactagaac tttaaaacgt 7261 tcccggggcc tcagacaagt gaaaaccaaa gtaaatgctg cttttagaac tgtgccctca 7321 tgccctcttc ctgctcacat gctagcgggg cccagcagcc ctgggtggtt ttgccagcat 7381 gctaactctt gtaactcgca gctgcatcct atgagctctc ccaagcttcc ccgcccctcc 7441 cctgggtcag ccgtgaggcc cacctttgcc accctcagct ctttcctctg gtgtggcttc 7501 agcttgaaag caacctggag tcgggggcac agcctttggg gcctggctgg gagagggtct 7561 tggagcatta ggggaagaag agagcagtgg gatcttgggg cctgagaagc cttggaacgc 7621 ttctggcagc agagctgggt gtgggaatga ggcctagatc gatatccctg ggttagagtt 7681 gaaatttgcc gcaattccac tggaaggcat ttcccacgag gccagaggtt gccaggctgc 7741 ctgaggtctc ctattctact ctgaaccata aacccagaga agaattactc attaaccagc 7801 ataaatactg cctgaggatc aaaactcaga ggcaaagagg gagttcctga ctgctagagg 7861 tgccaccacc acaaacactt tttattcagg agatactttt tgagaatctc tgctctgttc 7921 ctaggttcag tgctgggtcc tgggaataca gcaggacaga cctcagctta tctcttcata 7981 gaaattatac aaagagaatt ggggagacag ctaagaagaa aacaaagaaa taaagcagtt 8041 acaaattgtg ataagtgctt tgaaggaaag aaggggtctg agacaacaac agggaagggg 8101 cctctcttga aacagtagtt gggaaggagg cagacatgca ccagtgatgt ggtgacaggt 8161 gctctgaagg aggtcaccag gacctgacct ctttgaagga tcagaaaata cttccctgaa 8221 ggactgacat ttgagcctag acctgaaggg tgagccatca agctaagaca attggggaag 8281 agcattccag ggagagggag gagttgtgca aaggccctgg ggctccttct agctggagga 8341 atgcaaggct agcttgtctg gagcactgag aggatggcct gaactgagtg gagagagaca 8401 gaccaggacc aaaccatgca gaggtcaagg gccacattca ccttttcaga gtgactcaat 8461 caaatttgta gtttgtaaaa gtattttaac agctctgcgg caaagtgcaa atgaaaagtc 8521 ttgatggcat ggactggagc ggggacagtg gggatggaga aaggggaatg gattgtggat 8581 gtgtttagaa ggtagattcg atgtgaagga tgaatctggc ttgaccttct gggtggctga 8641 tgggccattt actgagatgg ggcagcctgg aagaggaaca gaagcagggt cggggtggag 8701 ggagaatact aaacttagct tgagacattt tgcaataagg aagctatatc tagagtgctt 8761 atgtgactca cctaaggcca ctcaacaagt ttgtggcaga actggatta //