LOCUS CKB 7084 bp DNA linear PRI 15-DEC-2005 DEFINITION Homo sapiens creatine kinase, brain (CKB) gene, complete cds. ACCESSION CKB 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 7084) 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 (15-DEC-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..7084 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" variation 169 /frequency="0.07" /replace="A" variation 264 /frequency="0.01" /replace="T" variation 342 /frequency="0.16" /replace="G" variation 396 /frequency="0.45" /replace="T" variation 504 /frequency="0.01" /replace="T" variation 565 /frequency="0.04" /replace="T" repeat_region 914..1063 /rpt_family="L1" /rpt_type=dispersed variation 1115 /frequency="0.03" /replace="A" misc_feature 1149..1718 /note="Region not scanned for variation" gene 1971..5145 /gene="CKB" mRNA join(1971..2038,2299..2503,2627..2781,2854..2986, 3370..3541,4212..4335,4493..4682,4762..5145) /gene="CKB" /product="CKB" CDS join(2311..2503,2627..2781,2854..2986,3370..3541, 4212..4335,4493..4682,4762..4940) /gene="CKB" /codon_start=1 /product="creatine kinase, brain" /translation="MPFSNSHNALKLRFPAEDEFPDLSAHNNHMAKVLTPELYAELRA KSTPSGFTLDDVIQTGVDNPGHPYIMTVGCVAGDEESYEVFKDLFDPIIEDRHGGYKP SDEHKTDLNPDNLQGGDDLDPNYVLSSRVRTGRSIRGFCLPPHCSRGERRAIEKLAVE ALSSLDGDLAGRYYALKSMTEAEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIW HNDNKTFLVWVNEEDHLRVISMQKGGNMKEVFTRFCTGLTQIETLFKSKDYEFMWNPH LGYILTCPSNLGTGLRAGVHIKLPNLGKHEKFSEVLKRLRLQKRGTGGVDTAAVGGVF DVSNADRLGFSEVELVQMVVDGVKLLIEMEQRLEQGQAIDDLMPAQK" variation 2850 /gene="CKB" /frequency="0.02" /replace="G" variation 2961 /gene="CKB" /frequency="0.26" /replace="C" misc_feature 3106..3230 /gene="CKB" /note="Region not scanned for variation" variation 3260 /gene="CKB" /frequency="0.01" /replace="C" variation 3418 /gene="CKB" /frequency="0.01" /replace="G" misc_feature 3743..4009 /gene="CKB" /note="Region not scanned for variation" variation 4063 /gene="CKB" /frequency="0.46" /replace="T" variation 4641 /gene="CKB" /frequency="0.01" /replace="T" variation 4685 /gene="CKB" /frequency="0.01" /replace="T" variation 4871 /gene="CKB" /frequency="0.01" /replace="A" variation 4886 /gene="CKB" /frequency="0.36" /replace="G" variation 5100 /gene="CKB" /frequency="0.01" /replace="G" variation 5273 /frequency="0.01" /replace="G" variation 5322 /frequency="0.03" /replace="T" variation 5346 /frequency="0.02" /replace="A" variation 5415 /frequency="0.02" /replace="T" variation 5509 /frequency="0.01" /replace="T" variation 6076 /frequency="0.01" /replace="C" variation 6315 /frequency="0.07" /replace="G" variation 6360 /frequency="0.05" /replace="C" variation 6525 /frequency="0.27" /replace="A" variation 6601 /frequency="0.13" /replace="T" variation 6604 /frequency="0.46" /replace="A" variation 6847 /frequency="0.38" /replace="C" variation 6875 /frequency="0.01" /replace="T" variation 6887 /frequency="0.01" /replace="A" BASE COUNT 1129 a 2313 c 2325 g 1317 t ORIGIN 1 agacagagga agtcctgagt gtggccccca agtctctccc tccccccaag tctgcctcca 61 ggggctgcag ctatcccttc cagaaacaga aacttaagcc cttcaggttt tgtggggtag 121 caggtgggca gctgcagaaa tttctaaaac tgggcgaaga ggctgcacgg ggcacagagt 181 gcaggaattc caggcttaag ggacacctgc tgtctggcca gcccagaggg gccgtttgcc 241 tttttacatg ggttggtttt attaagtcta aaaaatgctg gcttggaaca ggacgaagca 301 tgccaaggag caaagaggca tgtgtctcct ctgcagtgac catggggatg agacaggaga 361 aaaggccccc acaccgatgc tcacataggc agaggcgaac aggcttcccc tgcctttggg 421 ccttggctct ggtgccttct gctctgaggc acctattcgg ggtcccttat acctggaacg 481 ccactgctct gtgtccccct ggccccagca gcaccgatct gatgtcatct ggtttgttgg 541 gctgctggct catggccagt cttcctccag cagcaggcgc tgtgtacctc gctgcctgct 601 gtatccccag cggctggcac ctgttaggtg ctcattgtgc cactgctgga gggatttgta 661 tcaaatatac ccacagataa gagttccccc cttctttgct ttattcacag agcaacagat 721 gagggtccct gatggatatt aaccccacat cctccacttc cccctcttaa cagctgcata 781 atattccaca gcaagcagat gcctccctac ccttggccac tcccgcctga tggggcatcg 841 ggttgtatcc agttatgttt gtttttccct ccacagatct cttggtccat tagtggagag 901 aactgagaca tcctttctaa gggctgcatt cctagaaggg gagattgctg ggtcacggag 961 ttcgaacatt gttaacgtta atagattctg ccaaattatc ttgcaaaaag catgcagcaa 1021 tttaagttgc aggcagcgtg tggacgcctg tcttcccgca ttccagctca aagccagcaa 1081 tggctggggt cgatctggga gtgttggggg taggggcagg tggagtcact gcttaatttg 1141 catgattctg gttattcgtg agatcagttt ttttttttaa tcgcacttat gcttattgtt 1201 tattagcgtt tcctcccatc tttgcctgaa gtctccgggg actgcctttg ggggtcgggt 1261 aaacttgtcc cctgcgaaga gggcccaggg ttggggtctg gaaactccga ggctgcactt 1321 gccagcggcc tcttaaggcc acagcgtccc cgtggtttct ggctcgcagc cccccgagac 1381 ccaggacttg tccaaggtca gggcaccgcg ggtgcccccg ggctgggccg cagccagact 1441 gcgcttcccg cgcgccttcg ctttgcacca ggatcgccca ggaaacgcct gcgggcacct 1501 tgaggaaggt cggcggctcc gggccagctc gcactggccg ggggtggggc gggggccgta 1561 cctgctgcgg aagccccgaa agctttcgcc cggcccctcg ccgccgccgc gggggctggc 1621 tggactaggc gggcaggctc gaggatgcgg atgaacccaa gcgtcctcga gtgcccggag 1681 gctctccgcc tcagtttccc gcccagaggc aagggcgtgc gaggggatcc agatatccaa 1741 ggacctgagg tttcggcctc gaggtcttgg gcgggggact gggcaggctg cgcggggtcc 1801 cagcgagggg acagctcggg tgggcggcca gggtgttggg ggctgcgggc ggcggacaaa 1861 gcggcggcac caccccgcgg cgcgggccaa tggaatgaat gggctataaa tagccgccaa 1921 tgggcggccc gcgttgtgcc ccttaagagc cgcgggagcg cggagcggcc gctgttcgcc 1981 tgcgtcgctc cgggagctgc cgacggacgg agcgcccccg cccccgcccg gccgcccggt 2041 gagtgggccc gggggccggg ggcgtccgcg cccgggctag gggcgctgcg tgcaaagggg 2101 gcgcgtcgcc tggagcgcgc gccggaccgg ccgggggtcc ccggcgatga tggcgctccc 2161 cgcgcgcgct gcggaccccg ctgaccttgg ccgcgtcccg gggggcgccg gggggcccgg 2221 cggcgggggc ctgagtggta cgcgggagcc cgggaacccc ggcgtgccgg tcccctctga 2281 ccccgcgtct ccccgcagcc cgccgccgcc atgcccttct ccaacagcca caacgcactg 2341 aagctgcgct tcccggccga ggacgagttc cccgacctga gcgcccacaa caaccacatg 2401 gccaaggtgc tgacccccga gctgtacgcg gagctgcgcg ccaagagcac gccgagcggc 2461 ttcacgctgg acgacgtcat ccagacaggc gtggacaacc cgggtacgcg acccctcggg 2521 gccggggtcc cggccccccc tccccccgcg cagccgcagg gtcctcagca gcgcgctcgg 2581 gcccggcagt gacgtcactg tccccgtccc gcgccccctc ccccaggcca cccgtacatc 2641 atgaccgtgg gctgcgtggc gggcgacgag gagtcctacg aagtgttcaa ggatctcttc 2701 gaccccatca tcgaggaccg gcacggcggc tacaagccca gcgatgagca caagaccgac 2761 ctcaaccccg acaacctgca ggtgcggggc tgcgggcggg ccgggcgggc ggggccgggg 2821 tcttcgggcg ctcactcccg tctcgcctcc cagggcggcg acgacctgga ccccaactac 2881 gtgctgagct cgcgggtgcg cacgggccgc agcatccgtg gcttctgcct ccccccgcac 2941 tgcagccgcg gggagcgccg agccatcgag aagctcgcgg tggaaggtag gggccgggcg 3001 ggccgagggg cggcggcggc cgcgtccccc tcccggcgcg gtccccgccc gcttttgttt 3061 acgtcgcccg ggagcggcag ccgccgtcgc gctcttatct gcgcgcgccc gggttcagtt 3121 tcccggaggg accgagggac ggaggcccag ccccgcgccc acagcggcct ggggcccagg 3181 gagggcgggt cctggcgcgg ggtcaccgcc tgggaccgtc gcccgggccg tgaggactgg 3241 acgcccgcag atccgggcgg gtggggccct ctgacgtccc ccgaggtggg gcacgggggc 3301 gggcgggtcc gcgctgcggg ctggaggggc gggcgcggga gccgagcgtc ctgagcgcac 3361 ccctcgcagc cctgtccagc ctggacggcg acctggcggg ccgatactac gcgctcaaga 3421 gcatgacgga ggcggagcag cagcagctca tcgacgacca cttcctcttc gacaagcccg 3481 tgtcgcccct gctgctggcc tcgggcatgg cccgcgactg gcccgacgcc cgcggtatct 3541 ggtgcgtgtc cctctgcgcc ctctcgcggc gtcctccctc cccgctacct ccgctttccc 3601 tctcgccccc ctcgcggggg tggggcccct cgcggcgagg aggaggagga ggaggaggga 3661 ggggccggcc gcgctccggg tctgggttcc gtgccgcgcc tcctcctgcg ccggtgacct 3721 tggccgagca ggtgcgttaa gggactgggc cccggcccgt gggggctcag gactcagcaa 3781 cacctcccca ccccgagacg tgaggtgggg gcggggctct ctggcgcctc tccccgacgg 3841 ccctgggagc tggagctctt tgttttcttt tctcactcct ccgccgctgg gattctacca 3901 ggggctggtg acgccaaagc ttctccaggg gcagggctcc tacccccact gtggggggcg 3961 ggtcgggctg tcctggcggt ccctggcccc gccccacctc gggccacagc gcatgatggc 4021 agctggggtt ctcctgctgt gaggcgtccc ggttcccccg cccgccccgt gttggcgggt 4081 ggagtcttgg cagcagcctc cactcctggg catggcaggg agcagcacct cagggacttg 4141 ggaagttcct ttggtctggg ggcggcctgg ggcttttttc tgggtatgcc ctgagaccag 4201 ccctcccgca ggcacaatga caataagacc ttcctggtgt gggtcaacga ggaggaccac 4261 ctgcgggtca tctccatgca gaaggggggc aacatgaagg aggtgttcac ccgcttctgc 4321 accggcctca cccaggtgcc agggacgggg caggcccaga ccccagggcc ccagcaggga 4381 tgtgggtgcc ccagcatcag tccccccggg ggatttccgg cactggggag tctcagggcc 4441 tgtaggggtt tcaggcaggc cttctccctc ataccctctt ctccgtctgc agattgaaac 4501 tctcttcaag tctaaggact atgagttcat gtggaaccct cacctgggct acatcctcac 4561 ctgcccatcc aacctgggca ccgggctgcg ggcaggtgtg catatcaagc tgcccaacct 4621 gggcaagcat gagaagttct cggaggtgct taagcggctg cgacttcaga agcgaggcac 4681 aggtgagcag ggcaggtgct gcggcttccc gtggcctttg ggcagccctg tttcctccgc 4741 cctgacttgc tgtctcccca ggcggtgtgg acacggctgc ggtgggcggg gtcttcgacg 4801 tctccaacgc tgaccgcctg ggcttctcag aggtggagct ggtgcagatg gtggtggacg 4861 gagtgaagct gctcatcgag atggaacagc ggctggagca gggccaggcc atcgacgacc 4921 tcatgcctgc ccagaaatga agcccggccc acacccgaca ccagccctgc tgcttcctaa 4981 cttattgcct gggcagtgcc caccatgcac ccctgatgtt cgccgtctgg cgagccctta 5041 gccttgctgt agagacttcc gtcacccttg gtagagttta tttttttgat ggctaagata 5101 ctgctgatgc tgaaataaac tagggttttg gcctgcctgc gtctgagtgg tgcctctcct 5161 ttcccagggg ggagggggaa gggcagcagc caggccccag gagtcttgag tcctgggcct 5221 gctgtgggcc tcgccttctg tgagatggga caagagccag gaggtggcca ctctgttctg 5281 cctgccctac ctagtccatg ggccccttcc ctcgtgtcta tcgggctgtg caggcaggaa 5341 catgggagag agcgagggag gagctccagg cctgagcatc tgagggcatt caggcctggg 5401 tgtggagcct ggcacgttcc tcaggcccat cctgcagggt gggggaggta gggatagtgg 5461 aggtgggggg ttgacctcag aaacttgaga gctttccggt ccctccaact ggcttcctcc 5521 tccagtcttc caagctgcaa cactatcaga tgcaggcatc tccctgcctc cttcctaccc 5581 cgccaacacc tactctctat cttctcttcc ctgcttcctt ccctcccagc ctcggccttc 5641 aggctgaaca gcccccctgg ctccactggt cattgggctc agtcctcaag accctctagc 5701 agccctgggg agccactggt ccccccttta ctggcaggct cctcttcagg ggcctctggg 5761 tgtccagccc cttggcctca aggtggaacc acaaggtagg gaccctgggc agaagggggg 5821 ttggggctgt ttagggcttg gtcgccctgg tccctggtgc aacccccccg ccaactcacc 5881 ctagttgcca gttgccactg tccctgccca gcctctggct cagggctcct accatgattg 5941 ggcaccctga ggggctcggc cagctcaggg agtggaggcg gataggtgag ccagcggggg 6001 ctaggaatcc tgctccccac cttcctccag ctcctaagcg ccaaggacgc agcctgtgct 6061 gccacctgct ggccagggcc tcctctgccc cacccctggg gatcagggtc tgggacaggc 6121 ctcatcctgc atctccatgc ccacctggac actaaaagct gcggatcact gggctctcac 6181 ctccttggga cacgagggga ttgccaacct agacactggg gcccaggagc agcagtgggg 6241 tgcatccctg aatctgctgc tgggcttggc ttgtgggggg tcctaagggc agggttgaag 6301 tgtccacctc cctgagtgaa cacctggtag gctaggggca tagggggcag gtcccctggt 6361 gcagaaggct ggggggactt ctgcatccag cctttggacc ctagactggg ccctccctgg 6421 ctgaccagcc tgggcacaag gccagtttct ggcttagcct tttgctagga aggcccgggc 6481 caggataggc cgagctgtac aatcgagagt cttgggagaa gggcggggac gaagggcccg 6541 aggtgagcac aggaagtgag cccctccaga aaggggaggc tgagggcagt gaggaagggg 6601 cgcggaccca gtggggacct gaccagcaaa gccccacccc cagggggcct tgtcagtgct 6661 gccctcctcc cgctcaacag cggcagcccc tcctgctggc tcagtccctc tcatcacggc 6721 ttgggcagag ccagcctgac aatcgctggg gtggtgtggg ccccactccg aggtgaacac 6781 agggctgagg gcatggctgg gcaggcctaa cacttgtgtt tcaacgctcc ccttttccca 6841 tgttgaatct cagagtgggg cactcctaga accaccggtg gtcaaacaag cggaacccct 6901 aatcacccca tgcaggcctc tcaacgcact gtccggggag gccgagaagg ctgggcctgg 6961 ctcaggacca cttctgaggc agtaaaactc tgaaggtggg tggggccttg gctggcctgt 7021 ggcgcccaca gggcctggac ccccagctct ccgggcccca ctctcctccc tgtgcctcac 7081 gtat //