LOCUS ELA2 6672 bp DNA linear PRI 09-APR-2004 DEFINITION Homo sapiens ELA2: elastase 2, neutrophil (ELA2) gene, complete cds. ACCESSION ELA2 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 6672) AUTHORS Livingston,R.J., Rieder,M.J., Chung,M.-W., Ritchie,T.K., Olson,A.N., Nguyen,C.P., Nguyen,D.A., Poel,C.L., Robertson,P.D., Schackwitz,W.S., Sherwood,J.K., Sherwood,A.M., Leithauser,B.J. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (09-APR-2004) 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..6672 /organism="Homo sapiens" /db_xref="taxon:9606" repeat_region 132..169 /rpt_family="L2" /rpt_type=dispersed variation 148 /frequency="0.05" /replace="A" variation 236 /frequency="0.05" /replace="A" variation 262 /frequency="0.05" /replace="A" variation 395 /frequency="0.16" /replace="G" variation 455 /frequency="0.48" /replace="T" repeat_region 516..594 /rpt_family="CR1" /rpt_type=dispersed variation 1060..1112 /frequency="0.01" /replace="" variation 1063 /frequency="0.06" /replace="G" variation 1144 /frequency="0.01" /replace="C" variation 1165..1216 /frequency="0.84" /replace="" variation 1230 /frequency="0.01" /replace="G" variation 1277 /frequency="0.30" /replace="A" repeat_region 1440..1497 /rpt_family="Alu" /rpt_type=dispersed repeat_region 1498..1799 /rpt_family="Alu" /rpt_type=dispersed variation 1627 /frequency="0.01" /replace="C" variation 1690 /frequency="0.15" /replace="A" variation 1747 /frequency="0.02" /replace="C" variation 1758 /frequency="0.02" /replace="T" variation 1818 /frequency="0.12" /replace="A" variation 1948 /frequency="0.01" /replace="T" variation 2002 /frequency="0.01" /replace="A" gene 2005..5956 /gene="ELA2" mRNA join(2005..2109,2590..2746,2976..3117,5278..5508, 5672..5956) /gene="ELA2" /product="ELA2" CDS join(2043..2109,2590..2746,2976..3117,5278..5508, 5672..5878) /gene="ELA2" /codon_start=1 /product="ELA2: elastase 2, neutrophil" /translation="MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFM VSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQ RIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLG RNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASF VRGGCASGLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH" variation 2140 /gene="ELA2" /frequency="0.01" /replace="T" variation 2326 /gene="ELA2" /frequency="0.01" /replace="T" repeat_region 2334..2480 /rpt_family="MIR" /rpt_type=dispersed variation 2441 /gene="ELA2" /frequency="0.01" /replace="A" variation 2506 /gene="ELA2" /frequency="0.01" /replace="C" variation 2511 /gene="ELA2" /frequency="0.02" /replace="A" variation 2621 /gene="ELA2" /frequency="0.01" /replace="T" variation 2838 /gene="ELA2" /frequency="0.01" /replace="C" variation 3189 /gene="ELA2" /frequency="0.01" /replace="T" repeat_region 3246..3319 /rpt_family="MIR" /rpt_type=dispersed variation 3309 /gene="ELA2" /frequency="0.01" /replace="T" variation 3512 /gene="ELA2" /frequency="0.43" /replace="C" misc_feature 3814..5083 /gene="ELA2" /note="Region not scanned for variation" repeat_region 3877..4160 /rpt_family="Alu" /rpt_type=dispersed repeat_region 4226..4360 /rpt_family="Alu" /rpt_type=dispersed repeat_region 4383..4550 /rpt_family="L1" /rpt_type=dispersed repeat_region 4582..4865 /rpt_family="Alu" /rpt_type=dispersed repeat_region 4872..5004 /rpt_family="Alu" /rpt_type=dispersed variation 5118 /gene="ELA2" /frequency="0.04" /replace="T" variation 5301 /gene="ELA2" /frequency="0.02" /replace="T" variation 5680 /gene="ELA2" /frequency="0.01" /replace="T" variation 5680 /gene="ELA2" /frequency="0.06" /replace="A" variation 5729 /gene="ELA2" /frequency="0.03" /replace="A" variation 5844 /gene="ELA2" /frequency="0.01" /replace="T" variation 5859 /gene="ELA2" /frequency="0.01" /replace="T" repeat_region 6011..6144 /rpt_family="Alu" /rpt_type=dispersed variation 6015 /frequency="0.01" /replace="A" variation 6136 /frequency="0.01" /replace="T" repeat_region 6175..6462 /rpt_family="Alu" /rpt_type=dispersed variation 6196 /frequency="0.21" /replace="T" variation 6244 /frequency="0.38" /replace="A" variation 6309 /frequency="0.01" /replace="" variation 6342 /frequency="0.01" /replace="A" variation 6366 /frequency="0.01" /replace="A" variation 6382 /frequency="0.01" /replace="G" repeat_region 6467..6672 /rpt_family="Alu" /rpt_type=dispersed variation 6479 /frequency="0.01" /replace="T" variation 6497 /frequency="0.20" /replace="A" BASE COUNT 1460 a 1903 c 1990 g 1319 t ORIGIN 1 aacagggctg tgtagacagt aggcgcttac taagtgcact gtggtgatgt taaggcagca 61 aggtgggaac cctgccaaaa ggggagggga gaaggcaggg tagtgtgtgt ctgattaagc 121 tgaggacagg gcagacatgg actgagcgcc tgctgtgtgc caggctctgg gagggcaggg 181 ccattgtctc cctaacccga gagccatggg ggtccacttg cctgtggtca cgtcaggact 241 ccagcctggc ccaggctctg cgtgtccccg ggtgccctcg ccccgcctat tcctggagac 301 aggcccgttg gttcccttcc cctccccttg tcctggagcc aggaggacgt tggttcttgc 361 gacagccttg gcccggccgt tgcagctgga acatcgtggg ggagatggga agaggaacgg 421 ggcccggagc ccggggctgg gtcctgggaa tcccattccc gcagctggga ctccagctcc 481 cctgccagtt cctccaggcg gaagccctca ggcttggtcc tcactccagc ctcccggcct 541 ggacaggaat tctctctcca gcagccctgc cagatgcccg cccagcccct gcctcaggcg 601 gggagggctt cagggaagct caccaaggca gaagggcggg agagattgtc agagccccag 661 ctggtgtcca gggactgacc gtgagcctgg gtgaaagtga gttccccgtt ggaggcaaca 721 gacgaggaga ggatggaagg cctggccccc aagaatgagc cctgaggttc agggagcggc 781 tggagtgagc cggccccaga tctccgtcca gctgcgggtc ccagaggcct gggttacact 841 cgcagctcct gggggaggcc cttgacgtgc ctcagttccc aaacaggaac cctgggaagg 901 accagagaag tgcctattgc gcagtgagtg cccgacacag ctgcatgtgg ccggtatcac 961 agggccctgg gtaaactgag gcaggcgaca cagctgcatg tggccggtat cacagggccc 1021 tgggtaaact gaggcaggcg acacagctgc atgtggccgg tatcacaggg ccctgggtaa 1081 actgaggcag gcgacacagc tgcatgtggc cgtatcacag ggccctgggt aaactgaggc 1141 aggtgacaca gctgcatgtg gccgtatcac ggggccctgg gtaaactgag gcaggtgaca 1201 cagctgcatg tggccggtat cacggggccc tggataaaca gaggcaggcg acacagctgc 1261 atgtggccgg tatcacgggg ccctgggtaa actgaggcag gcgaggccac ccccatcaag 1321 tccctcaggt ctaggtttgg caggtttggc aaaaacacag caacgctcgg ttaaatctga 1381 atttcgggta agtatatcct gggcctcatt tggaagagac ttagattaaa aaaaaaacgt 1441 cgagaccagc ccggccaaca cggtgaaacc ccgtctctac taaaaataca aaaaattagc 1501 caggcgcagt ggctcacgcc tgtgatccca gcactctggg aggctgaggc aggcggatca 1561 cccgaggtca gatgttcaag accagcctgg ccgacagggc gaaacactgt ctctactaca 1621 aatacaaaaa ttagccggga gtggtggcag gtgcctgtaa tctcagctat tcaggaggct 1681 gaggcaggag aatcacttga acctgggagg cggaggttgc cgtgagccgg gatcacgcca 1741 ccgcactcca gcctgggcga tagagcaaga ctctgtctcc aaaaaaataa attaaaaaac 1801 ccacattgat tatctgacat ttgaatgcga ttgtgcatcc tgaattttgt ctggaggccc 1861 cacccgagcc aatccagcgt cttgtccccc ttctccccct tttcatcaac gccctgtgcc 1921 aggggagagg aagtggaggg cgctggccgg ccgtggggca atgcaacggc ctcccagcac 1981 agggctataa gaggagccgg gcgggcacgg aggggcagag accccggagc cccagcccca 2041 ccatgaccct cggccgccga ctcgcgtgtc ttttcctcgc ctgtgtcctg ccggccttgc 2101 tgctgggggg tgagtttttg agtccaacct cccgctgctc cctctgtccc gggttctgtt 2161 cccacctctc catagagggc cccaccagtg tgggtccctc atcctcacag gggaggtgcc 2221 agctgggaca aggagaccag aagagactga ggttctgagc ggtgaagcca ccaccaggag 2281 cccagagttg gggtttgaaa accggggagg gggggggggt cgcaggtcgc cctctgggtt 2341 caagtccagg tctgtctgtg ccttggaggg gcaccgtggg gaggtccctt tgcctctccg 2401 tgcctcagtt tcctcatctg aacaacaggg gtgcgaacgg ccccgatccc gtgggttccc 2461 ggtgggggat cccgtgggtt cccggtgggg gatcccgtgg gttcctggtg ggggatccag 2521 aggccccgtg gccgggaggg gacaggctcc ttggcaggca ctcagcaccc gcacccggtg 2581 tgtccccagg caccgcgctg gcctcggaga ttgtgggggg ccggcgagcg cggccccacg 2641 cgtggccctt catggtgtcc ctgcagctgc gcggaggcca cttctgcggc gccaccctga 2701 ttgcgcccaa cttcgtcatg tcggccgcgc actgcgtggc gaatgtgtga gtagccggga 2761 gtgtgcgcgc ccggctcgga ccccgcgtcc cggtctgtga ggtgggtggg gggaggccgg 2821 ggccggggct gctggcgggg gggggtccgt ccagggcccg cggggcccct cgagcacctt 2881 cgccctcagg cccgtcgccg gatggggacg acaaggcgcg gctgagcccc gacccccggg 2941 gccgcccctg agccccgcct ctccctcccc ggcagaaacg tccgcgcggt gcgggtggtc 3001 ctgggagccc ataacctctc gcggcgggag cccacccggc aggtgttcgc cgtgcagcgc 3061 atcttcgaaa acggctacga ccccgtaaac ttgctcaacg acatcgtgat tctccaggtg 3121 ccgccgggcg gggcgggggg cgcaggggcg gaggccagag gcctggggag ggtggaggct 3181 gcgacggagg ggcgcgtcgg ggccgctcgt ggggacctgg ggtggcatcg tgggctgggt 3241 ggtcccctct ccgcgcctcg gtctgcacct ctgtgaaacg ggaaaatacc cgccatgggc 3301 cgttgagggg ttaaatgaga tcctgcaggg aggccccgat ctgctgtcaa tcaacaaact 3361 tactgagaag ggaggccccg atctgttgtc aatcaacaaa cttactgaga agggaggccc 3421 cgatctgttg tcaatcaaca aacttactga gaagggaggc cccgatctgc tgtcaatcaa 3481 caaacttact gagaagggag gccccgatct gttgtcaatc aacaaactta ctgagaaggg 3541 aggccccgat ctgctgtcaa tcaacaaact tactgagaag ggaggccccg atctgttgtc 3601 aatcaacaaa cttactgaga agggaggccc cgatctgctg tcaatcaaca aacttactga 3661 gaagggaggc cccgatctgt tgtcaatcaa caaacttact gagaagggag gccccgatct 3721 gctgtcaatc aacaaactta ctgagattct ttgtgtctct ccattcacca gtcctgtggc 3781 ccagggcagg ggccgcctct gtctttggga aaaggggcaa aagtccccac ctttccaccc 3841 ctgtccgcgg cttgcagttc tggttatttc ctgggcgccg ggccccgtgg ctcaggcctg 3901 tcatcccagc actttgggag gctgaggcgg gtggatcacg aggtcaggtg ttcgagacca 3961 gcctgagcaa catagtgaaa ccccgtctct actaaaatac aaaaaaaaaa aattagccga 4021 gtgtggttgt gggtgcctgt aatgccaact actcaggagg ctgaggaagg agaatcgctt 4081 gaaccccgga ggcggagatt gcagtgagct gagatcacac cactgcactc cagcctgggt 4141 ctcaaaaaaa aaaaaaaaga ttcctccctg ggaagggtta gagggagagt ttccttgtca 4201 ctaagttttc tcatagctct cacccagtgc agtggcgcga tcgcagctca ctacagcctc 4261 catctcctgg gctcaagcca ccctctcagc ttggaatggg gggtagctgg aaccacaggt 4321 gccaccacgt gggtccacca cgtctggcta atatatatat atacacacac acatacatat 4381 attataaata ataaatatat attttattta aataaaatat ataatattta taattatttt 4441 ataattataa taatatttat ataattataa atatcattta taattataat atttattatt 4501 ttataaaata ataaatataa aatatataaa aatattttta taaaataata aaaatatata 4561 tatacacaca tatatatata ttttttgaga caagtctcgc tctgtcgccc aggctggagc 4621 gcagtggcac aatctcagct cactgcaacc tccgcctccc aggttcaagc gattctcctg 4681 cctcagcctc ccaggtagct gggactacag gcgcccgcca ccacgcctgg ctaatttttg 4741 gtattgttag tagagacggg gtttaaccat gttagccagg atggtcttga tctcctgacc 4801 ttttgattgg cccacctcag cctcccaaaa tgctgggatt ataggcgtga gccaccgcac 4861 ctggcaattt ttttttatta tttttgtaga catggggctt tgccacattg cccaggctgg 4921 tcttgaatgc ctggcctcaa gtgatcctcc tgcctcgccc tcccaaagtg ctgggcttac 4981 aagcatgagc caccgcgccc ggctgtagtt tttttgttaa ctgagcacct actgcttcct 5041 gcactcaagc cacatccagg gacaacctcc aacgccctga gccttggtga cggctcccac 5101 tctacagatg gggaaaccga ggcttgcctt ggggagcaga gtgtggggtg ggtatcctgc 5161 cctgcaggat cccagaacca cagtggaacc tgagatgggg aaactgaggc ccggagaggg 5221 gagggtcatc atcactgccc cgtgtgacgc gctgacgatc tgtccccacc gccacagctc 5281 aacgggtcgg ccaccatcaa cgccaacgtg caggtggccc agctgccggc tcagggacgc 5341 cgcctgggca acggggtgca gtgcctggcc atgggctggg gccttctggg caggaaccgt 5401 gggatcgcca gcgtcctgca ggagctcaac gtgacggtgg tgacgtccct ctgccgtcgc 5461 agcaacgtct gcactctcgt gaggggccgg caggccggcg tctgtttcgt acgtgccctg 5521 ggtgtccctc tgctccccac ccgctcccag cccggactgc agcaacaggc accgtggcta 5581 gaccctagga gggacttccc aaccctgaca ggcggcgggc aggtgggcag ggcctcgcag 5641 tccagcttcc ccaccttgtc tgcctccaca gggggactcc ggcagcccct tggtctgcaa 5701 cgggctaatc cacggaattg cctccttcgt ccggggaggc tgcgcctcag ggctctaccc 5761 cgatgccttt gccccggtgg cacagtttgt aaactggatc gactctatca tccaacgctc 5821 cgaggacaac ccctgtcccc acccccggga cccggacccg gccagcagga cccactgaga 5881 agggctgccc gggtcacctc agctgcccac acccacactc tccagcatct ggcacaataa 5941 acattctctg ttttgtagaa tgtgtttgat gctccttggc tgtgtgattg ggtgttgaaa 6001 atggtcagta ggtcgggcgt ggtggctcac acctgtaatc ccagcacttt gggaggttga 6061 ggcaggcgga tcacttgagc tcaggagttc aagaccagcc tgggcaacat ggcaaaaccc 6121 ccgctccatt aaaaaaaaat aaataaataa aataaaataa aataaaatgg tccaagcctg 6181 gcccagtggc ttacgcctgc aatcccagca ctttgggagg ccgaggctgg cagatcacct 6241 gaggtcggga gttcaagact agtctgccaa cgtggtgaaa ccccatctct actataaata 6301 caaaaaaaat tagcttggcg tcgtggcgcg tgggaggctg aggcaggaga atcgcttgaa 6361 cctgcgaggc gaaggctgta gtgagccgag attacgccac tgcactccag cctgggcaac 6421 acagagagac tccgtctcaa aaaaaaaaaa aaaaaaaaaa aataccggtg cggtggctcg 6481 tgcctgtaat cccagctctt tgggaggccc aggcaggcgg atcatctgag gtctaaagtt 6541 cgagaccagc ctgaccaaca tggagaaacc ccatatctac taaaaataca aaattagccg 6601 ggcgtggtgg tgcatgcctg taatcccagc tactcgggaa gcctgaggca ggagaatcac 6661 ctgaattctg ga //