LOCUS PNKP 7635 bp DNA PRI 10-JUL-2002 DEFINITION Homo sapiens. ACCESSION PNKP VERSION KEYWORDS . SOURCE Homo sapiens. ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 7635) AUTHORS Rieder,M.J., Livingston,R.J., Braun,A.C., Montoya,M.A., 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 (10-JUL-2002) 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..7635 /organism="Homo sapiens" /db_xref="taxon:9606" repeat_region 2..95 /rpt_family="MIR" /rpt_type=dispersed variation 126 /replace="-" /frequency="0.23" variation 335..402 /replace="-" /frequency="0.70" variation 439..442 /replace="-" /frequency="0.66" variation 451 /replace="A" /frequency="0.01" variation 527 /replace="C" /frequency="0.01" variation 650 /replace="T" /frequency="0.07" variation 773 /replace="C" /frequency="0.01" mRNA join(828..978,1587..1633,2606..2905,3629..3708,3796..3853, 3961..4068,4272..4343,5294..5342,5424..5494,5570..5662, 5752..5848,5928..5989,6152..6261,6338..6425,6523..6584, 6668..6821) /gene="PNKP" /product="PNKP" gene 828..6821 /gene="PNKP" CDS join(828..978,1587..1633,2606..2905,3629..3708,3796..3853, 3961..4068,4272..4343,5294..5342,5424..5494,5570..5662, 5752..5848,5928..5989,6152..6261,6338..6425,6523..6584, 6668..6785) /gene="PNKP" /codon_start=1 /product="PNKP: polynucleotide kinase 3'-phosphatase" /translation="MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDR KCSRTQVELVADPETRTVAVKQLGVNPSTTGTQELKPGLEGSLGVGDTLYLVNGLHPL TLRWEETRTPESQPDTPPGTPLVSQDEKRDAELPKKRMRKSNPGWENLEKLLVFTAAG VKPQGKVAGFDLDGTLITTRSGKVFPTGPSDWRILYPEIPRKLRELEAEGYKLVIFTN QMSIGRGKLPAEEFKAKVEAVVEKLGVPFQVLVATHAGLYRKPVTGMWDHLQEQANDG TPISIGDSIFVGDAAGRPANWAPGRKKKDFSCADRLFALNLGLPFATPEEFFLKWPAA GFELPAFDPRTVSRSGPLCLPESRALLSASPEVVVAVGFPGAGKSTFLKKHLVSAGYV HVNRDTLGSWQRCVTTCETALKQGKRVAIDNTNPDAASRARYVQCARAAGVPCRCFLF TATLEQARHNNRFREMTDSSHIPVSDMVMYGYRKQFEAPTLAEGFSAILEIPFRLWVE PRLGRLYCQFSEG" variation 885 /gene="PNKP" /replace="T" /frequency="0.02" variation 1183 /gene="PNKP" /replace="A" /frequency="0.49" variation 1223 /gene="PNKP" /replace="A" /frequency="0.35" variation 1466 /gene="PNKP" /replace="A" /frequency="0.01" variation 1502 /gene="PNKP" /replace="G" /frequency="0.02" variation 1623 /gene="PNKP" /replace="T" /frequency="0.01" variation 1729 /gene="PNKP" /replace="C" /frequency="0.01" repeat_region 1733..2020 /rpt_family="Alu" /rpt_type=dispersed variation 2014..2018 /gene="PNKP" /replace="-" /frequency="0.05" repeat_region 2120..2430 /rpt_family="Alu" /rpt_type=dispersed variation 2309 /gene="PNKP" /replace="C" /frequency="0.01" variation 2436 /gene="PNKP" /replace="A" /frequency="0.05" variation 2584 /gene="PNKP" /replace="T" /frequency="0.01" variation 2928 /gene="PNKP" /replace="T" /frequency="0.34" variation 3016 /gene="PNKP" /replace="T" /frequency="0.08" variation 3173 /gene="PNKP" /allele="T" /frequency="0.23" variation 3173 /gene="PNKP" /replace="C" /frequency="0.01" variation 3199 /gene="PNKP" /replace="T" /frequency="0.01" variation 3246 /gene="PNKP" /replace="G" /frequency="0.04" variation 3254 /gene="PNKP" /replace="C" /frequency="0.04" repeat_region 3492..3560 /rpt_family="MIR" /rpt_type=dispersed variation 3602 /gene="PNKP" /replace="T" /frequency="0.01" variation 3668 /gene="PNKP" /replace="A" /frequency="0.01" variation 3803 /gene="PNKP" /replace="A" /frequency="0.02" variation 3860 /gene="PNKP" /replace="A" /frequency="0.01" variation 3934 /gene="PNKP" /replace="T" /frequency="0.04" variation 4173 /gene="PNKP" /replace="A" /frequency="0.01" variation 4454 /gene="PNKP" /replace="T" /frequency="0.01" variation 4595 /gene="PNKP" /replace="A" /frequency="0.01" variation 4612 /gene="PNKP" /replace="A" /frequency="0.01" repeat_region 4740..4952 /rpt_family="L2" /rpt_type=dispersed variation 4839 /gene="PNKP" /replace="G" /frequency="0.06" variation 4926 /gene="PNKP" /replace="C" /frequency="0.49" variation 5014 /gene="PNKP" /replace="T" /frequency="0.01" variation 5015 /gene="PNKP" /replace="T" /frequency="0.01" variation 5125 /gene="PNKP" /allele="T" /frequency="0.24" variation 5125 /gene="PNKP" /replace="A" /frequency="0.03" variation 5247 /gene="PNKP" /replace="T" /frequency="0.04" variation 5434 /gene="PNKP" /replace="G" /frequency="0.01" variation 5512 /gene="PNKP" /replace="-" /frequency="0.99" variation 5718 /gene="PNKP" /replace="C" /frequency="0.01" variation 5857 /gene="PNKP" /replace="T" /frequency="0.01" variation 5920 /gene="PNKP" /replace="T" /frequency="0.02" variation 6085 /gene="PNKP" /replace="T" /frequency="0.01" variation 6142 /gene="PNKP" /replace="-" /frequency="0.02" variation 6569 /gene="PNKP" /replace="G" /frequency="0.01" variation 6800 /gene="PNKP" /replace="T" /frequency="0.01" variation 6822..6825 /replace="-" /frequency="0.99" variation 6871 /replace="G" /frequency="0.02" variation 6950 /replace="-" /frequency="0.96" variation 7040 /replace="-" /frequency="0.99" BASE COUNT 1581 a 2097 c 2501 g 1456 t ORIGIN 1 tcacgtgtta gctcctttaa tcgtcatggt aaccccacga agcggaaacg attatccttt 61 ttatagatga ggaaactaga acatcgaggg tgaagccaaa gaaggactta ggggcgctgt 121 cgggggcgga ggtttcctcg actgacaatg accatcagat gggaaaaaaa tcttcctccc 181 tgggatgaaa attagaagtc aaggtggaaa gaggcaaatc tgctaacgga ggatccagtc 241 cccgctaccg gcctgagcct cgcgttgcag caagagagat gaaggtcagg gctgccgaga 301 gaccctgggg gccgggagtc ggggaagggg gcgttgcagc aagagagatg aaggtcaggg 361 ctgccgagag accctggggg ccgggagtcg gggaaggggc gtggctgctg tgggaggagg 421 ccaggccccg ccccccaccc acgaggggac gagtcatttc cgtccgccga ggaaccgacc 481 gccgccggcc gggttgcagg cggggcacct cgggcaggac ctccctggtc ggaagtggcc 541 gtgagcccaa gccgcggtcc cgggtgagta cggggcgggg cggaggcatg tgcgaggctc 601 tctgcctgta cgctggaaag tggggattgc aactcgggga gggatggagc acgcgtcgtc 661 gcctgggaaa cgggtcgacc cgcggaaggc gagcgggtgg gacttccgga gcagttaatg 721 gtggggaaac tttctagtgg atgtgggagg aggcgggact tcctgcagca aattggggct 781 gtgcgccgct caagcccgtt tacctgctcc ccaggccggc acccaggatg ggcgaggtgg 841 aggccccggg ccgcttgtgg ctcgagagcc cccctggggg agcgcccccc atcttcctgc 901 cctcggacgg gcaagccctg gtcctgggca ggggacccct gacccaggtt acggaccgga 961 agtgctccag aactcaaggt gagcggggcc tgagctggag ggggtgtggc ctgctgcaaa 1021 agcgggaaca atccagaggg acgcttggct gctacgcggg attgcagtgg tgcagccagc 1081 cccgaagtcg gaaggtgctc tctagggagt acaggaagat aaagtttgtg cttgatttag 1141 aattagctag atcctttggg ggagagggga tcgagccgat ttcgggagga tgttcactgc 1201 gcggatgatg ctcaggccat cgggaaatcc agaaacaggc gacgaccttc gtcaagagaa 1261 aaatgatcct gtggagaaaa gtaaatgtcg ctaggttggg atggatggta acaggccaag 1321 ccccggacct atatctagcc acattttttg tcaaggagga aaccaattct gtagagaaaa 1381 gtacctccct gtcccttgca aggaccagtg tcaggcaatc ctagtgccac tatctggcta 1441 ctgcatgtca aggagccaat cccatgtaga aataaactgc ctcttactcc ctggatgcta 1501 tagcctgaag caggccacac tccccagaaa tgagggaccc aatcacacaa ggatgcaaat 1561 cctgactcca cccctccaat cctcagtgga gctggtcgca gatcctgaga cccggacagt 1621 ggcagtgaaa caggtatcag tgcctctgca agggccagca aggcctgggg atgggatttg 1681 gggaggaatt gcaagccgtc agtgaagggg tacattagga aaatctgatt ggggccgggc 1741 gtggtggctc aagcctgtaa tcccagcact ttgggaggcc gaggcgggcg gatcgcttga 1801 acccaggagt tcgagaccag cctgagcgac atggtgaaac ctgtctctct aaaaaattag 1861 cgggaatggt ggcgcgtcct tgtagttcct aatcgggagg ctgaagcggg aggatccctt 1921 gagcccagta ggtcaagggt gtagtgagca gtgatcacca cactgtactt cagcctgggt 1981 gacagagcga gaacctgtct caaaaaaaga aaagaaaaaa tatggctggg agagaagggg 2041 atgtgtccag taaagaaaga agtgttgcct gtttcagtgg ggtgggtacc tgtccaagac 2101 cttagaaatt ggacaaggcg gccaggcgcg gtggctcacg cctgtaatcc cagcactttg 2161 ggaggctagg cgggcggatc acccgagatc aggagtttgt gaccagcctg gccaacatgg 2221 cgaaacccca tctctactaa aaatacaaaa attagcgggg catggtggcg ggtgcctgta 2281 atcccagcta ctcgggtagc tgaggcagga gaatcgtttg aacccaggag gcacaggttt 2341 caatgagcca agattgcacc actgcactcc agcctgggcg acaaaacaag cctatatctc 2401 caggggaaaa aaaaaaaaaa aaaaaaaaaa gattcggaca aggctgaaaa cctgtaaccg 2461 ttccaaagcc cgttccaaag tgaagaggtg gggcctaagg gtctgatagt ggtggagaag 2521 ggctgatttt tccgctgggt atttgattgg aggaagctcc cggtgggggc ggagccagtc 2581 ccagctcctc cctctctttc tgcagctggg agttaacccc tcaactaccg ggacccagga 2641 gttgaagccg gggttggagg gctctctggg ggtgggggac acactgtatt tggtcaatgg 2701 cctccaccca ctgaccctgc gctgggaaga gacccgcaca ccagaatccc agccagatac 2761 tccgcctggc acccctctgg tgtcccaaga tgagaagaga gatgctgagc tgccgaagaa 2821 gcgtatgcgg aagtcaaacc ccggctggga gaacttggag aagttgctag tgttcaccgc 2881 agctggggtg aaaccccagg gcaaggtgag ggccacgccg agggctgagg gagccgccac 2941 agactgggac ccaatcccac gtttgttgcg tgctctcaac tttttagcct ctacttactt 3001 ttctgagaaa tgggcctaat gataaatgca gggatcgttg taagcagtta agcagtgggg 3061 agaatgatat atgtcagctc ctgcgttacc cacagtgacc acccagtaat cagcaatgac 3121 catgactgtc tcagtaggag ctattacgat gaggattttt tatgtccaga gagacttgag 3181 ttcaaatgct gttaccacca cattctgagt cccatgtgtc tcatctctac gatgctgaat 3241 ccataaaaaa agcacgtggc atagttcctg acatgcagtt agcacccaaa gctttgctcc 3301 tgcttttatt ttcacggtta ttagcccacc gaggtggtga aggccagggg aagaaggagg 3361 ctgggtaaga cattaacccc cattttaaag actgtaatcc tggggctggc gtcataagga 3421 gtaacaggag acagtaaggt taagatgtcg ggccccactc agaggcatca cggatgcttg 3481 agatggaggt gctctgtgac tcggtttccc catctgtgag atggcagtga taacaccctg 3541 cctggcaggg ttggtgtgag tcagcctgtg agtgaggagg gtcagaggta tcacagtgct 3601 gctgtttgtc tttccttggt gacaccaggt ggctggcttt gatctggacg ggacgctcat 3661 caccacacgc tctgggaagg tctttcccac tggccccagt gactggaggt gataagaggc 3721 aaaacaaggg agtgagtgag gcctggagtc cacctctggc cccgggtcac ccctgccgct 3781 tcatacctgc cgtaggatct tgtacccaga gattccccgt aagctccgag agctggaagc 3841 cgagggctac aaggtatgtg cagccgcctg tctgcatggg cacgtgcacg tggcggtccg 3901 accgcagtca gaccaaggcc ctggtgagca gagcgtctgg tgacaccctt tgctccccag 3961 ctggtgatct tcaccaacca gatgagcatc gggcgcggga agctgccagc cgaggagttc 4021 aaggccaagg tggaggctgt ggtggagaag ctgggggtcc ccttccaggt atggctggaa 4081 gggaggctgg gagctatgtg ggggcacaga gatccagagc gagggcttta gactccaggg 4141 taagcggggc ggaggcctca ggcagtgtga tgctgatagg aacccatcat cagctacaaa 4201 ttctgggctg gggtggcatc cagtaggtgc ttgaggggga gctaaagctg gtggccccct 4261 cccatccaca ggtgctggtg gccacgcacg caggcttgta ccggaagccg gtgacgggca 4321 tgtgggacca tctgcaggag caggtgagtc ttgcagcctg cccggccccc ctccttttcc 4381 tcactccagc ccctcactcc tgggctcccc ggcctccggt tggggcctcc ttactcctct 4441 gtcctctctc gctccctcct tctgtttttt gctgtgacat cttagatgtt ggtttacgag 4501 accagtgctt tcagactttc tacatcagag tagtagggaa gctgttcatt ccttcgttca 4561 ttcgtttgtg tgtgcatttg ttctgaagtt tagcgcattc ttgagctgaa ggtatcagtg 4621 agcgggacgg cctgctccag cagggccctc acggcgaggg cggtgactct aggcggatgg 4681 gcagactggc gtgtaaaaca gcaggaggga gggagctgga gaaagcaggc atcacccgtg 4741 gtgggcaggg atggcctctg aggaggtgac atcagaggaa aaggcctaag gcagggaaag 4801 gagggagcca ggtggacacc tggggaaagc ggtccccccc cttgtgggag tgacagcaag 4861 tgcaaaggcc ctgaggcagt ccctagcctg ggctagttag ggacagcgag gcccatgcgg 4921 ctggctctaa gcgagggagg ggagagggca gggccacagg gagggccccg cttttgccct 4981 gagggagggg gaacctggga ggcgccggca cgccggaggc tggagctgta gcagggtggg 5041 tgccctccgg tggccgcgtg gggaacggga ggaggtgaag tcgggagacc tggagggagg 5101 gggctgtgtg gagagaccac ggagggggga gggggccagg agcacggtgc aaagtggctg 5161 gagagtgagg acatgaaagg tcgggggatg attcctgatg tggggcacag accaggcgaa 5221 gcagccccag ggacccgcta ccgctgcggg gggacatttg tgggaagggc ctcctcacta 5281 ccgtctcccg taggccaacg acggcacgcc catatccatc ggggacagca tctttgtggg 5341 aggtaagggc ctggaggctg ctgagggtgg gctgggacgc ctccctccga gctggtggga 5401 acggggtgtc ccgtgtgttc cagacgcagc cggacgcccg gccaactggg ccccggggcg 5461 gaagaagaaa gacttctcct gcgccgatcg cctggtgagg cccctgcccc cctgccccgc 5521 gcccgagccc gaccctggcc tgtgtctgat gttcgtcctc aacccctagt ttgccctcaa 5581 ccttggcctg cccttcgcca cgcctgagga gttctttctc aagtggccag cagccggctt 5641 cgagctccca gcctttgatc cggtgaggcc ctggggcggg ggtgggggtg gggatgggag 5701 ggctcccggg gatggggacg gcatctcacg cgtgtccccc gcccctcgca gaggactgtc 5761 tcccgctcag ggcctctctg cctccccgag tccagggccc tcctgagcgc cagcccggag 5821 gtggttgtcg cagtgggatt ccctgggggt aagtgtcctg ttcctgtgcg cgtgccctga 5881 gccccgcctg ggtcctaggc cacccaccga cactgccccc cacacagccg ggaagtccac 5941 ctttctcaag aagcacctcg tgtcggccgg atatgtccac gtgaacaggg tatgaccagg 6001 cttttgccgc cccaaatcta ttataaagtt cccatctcca cctctcaact ggtttggggc 6061 ggctttcctc catcattgcc tccccgtccc cgctcggggt cttctctccc cctgggtctg 6121 ccgatctgtt tgtgacctct cgtgtcccca ggacacgcta ggctcctggc agcgctgtgt 6181 gaccacgtgt gagacagccc tgaagcaagg gaaacgggtc gccatcgaca acacaaaccc 6241 agacgccgcg agccgcgcca ggtagcgtga ccgcggggcc gtaggtggcc tgcggcgggg 6301 tgggcggggc ctgcacatcc agctccttcc cccacaggta cgtccagtgt gcccgagccg 6361 cgggcgtccc ctgccgctgc ttcctcttca ccgccactct ggagcaggcg cgccacaaca 6421 accgggtgag cccgctcagc ccggacaccc cccgggctgc accccctgac ccccctcctc 6481 ccctgacccc tgggcctgcc gcccctctga tgttccccac agtttcgaga gatgacggac 6541 tcctctcata tccccgtgtc agacatggtc atgtatggct acaggtactg ttggggatag 6601 cagggggcag gggcactggc tgggccacat gatccaggct gtccctcact gttcccacca 6661 ctgccaggaa gcagttcgag gccccaacgc tggctgaagg cttctctgcc atcctggaga 6721 tcccgttccg gctatgggtg gagccgaggc tggggcggct gtactgccag ttctccgagg 6781 gctgagcccc gcccagctcc cctccacaat aaacgctgtt tgtttctcct tgagcttggc 6841 cggcattttg ctggaaggag ggtggtcccc acgggggagg ggctccaggc ctgccagttt 6901 cttacatgga ggaggcttta aggacatttt caggtaacaa aaggtggggg ccctaccgag 6961 gggagtccag ctgggacctg gcatgagcac tttagacatt agccggggaa cacacaggga 7021 gggcgctgtg tggccccccc gagagccagc tggtgagccc acgagcctca accgaggggc 7081 tggctcaagg ccaggtgtga cccctgagga caaaatccag ctcaggttct gtgacactga 7141 acttgaaccc aaggcctgcg ggtctggaga ttcggggggg aagagggtgt ggacagccga 7201 gagccagacc cagtgagttc ccgggctgtc cagcctgctg ggccacctta gagctagggg 7261 gctgcaaggc atcgggcagt gagcagagaa ggcaggcagg tttttaaaag gctttattgg 7321 ggaaacgtag aggggtgggg accgtccttg gaggcctcag gacaccatcc tccatgttgc 7381 tgggcagttg aagtccccag gggcccctgc tcagaagcgt gtcacctggg ggcaggggtg 7441 cagtgggggc tgctggccac aggctcccaa gcactgaccc cacatccctg tgagcagagg 7501 cctggcccca cccaggcctg gataccacct cccatggccc tgaggctggg ctgcagtttc 7561 ccgacagcct aggaccgctg ggactgctgc ctctccctct gctctgctct ccccaaggcc 7621 aaggtcgccc tgctt //