LOCUS DQ372108 10320 bp DNA linear PRI 31-JAN-2006 DEFINITION Homo sapiens complement component 1, q subcomponent binding protein (C1QBP) gene, complete cds. ACCESSION DQ372108 VERSION DQ372108.1 GI:85726205 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 10320) AUTHORS Rieder,M.J., Johanson,E.J., da Ponte,S.H., Hastings,N.C., Ahearn,M.O., Bertucci,C.B., Wong,M.W., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (20-JAN-2006) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: SeattleSNPs. NHLBI HL66682 Program for Genomic Applications, UW-FHCRC, Seattle, WA (URL: http://pga.gs.washington.edu). FEATURES Location/Qualifiers source 1..10320 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" repeat_region 375..615 /rpt_family="ERV1" /rpt_type=dispersed variation 596 /frequency="0.02" /replace="t" repeat_region 887..1667 /rpt_family="ERV1" /rpt_type=dispersed variation 1163 /frequency="0.06" /replace="t" variation 1927 /frequency="0.04" /replace="a" gene 1976..8349 /gene="C1QBP" mRNA join(1976..2285,2854..3004,6161..6254,7360..7458, 7712..7834,7963..8349) /gene="C1QBP" /product="complement component 1, q subcomponent binding protein" CDS join(2054..2285,2854..3004,6161..6254,7360..7458, 7712..7834,7963..8112) /gene="C1QBP" /codon_start=1 /product="complement component 1, q subcomponent binding protein" /protein_id="ABC79624.1" /db_xref="GI:85726206" /translation="MLPLLRCVPRVLGSSVAGLRAAAPASPFRQLLQPAPRLCTRPFG LLSVRAGSERRPGLLRPRGPCACGCGCGSLHTDGDKAFVDFLSDEIKEERKIQKHKTL PKMSGGWELELNGTEAKLVRKVAGEKITVTFNINNSIPPTFDGEEEPSQGQKVEEQEP ELTSTPNFVVEVIKNDDGKKALVLDCHYPEDEVGQEDEAESDIFSIREVSFQSTGESE WKDTNYTLNTDSLDWALYDHLMDFLADRGVDNTFADELVELSTALEHQEYITFLEDLK SFVKSQ" variation 2573 /gene="C1QBP" /frequency="0.10" /replace="g" variation 2602 /gene="C1QBP" /frequency="0.05" /replace="t" variation 2698 /gene="C1QBP" /frequency="0.20" /replace="c" variation 3083 /gene="C1QBP" /frequency="0.02" /replace="t" variation 3382 /gene="C1QBP" /frequency="0.03" /replace="c" variation 3397 /gene="C1QBP" /frequency="0.02" /replace="g" variation 3447 /gene="C1QBP" /frequency="0.01" /replace="c" variation 3455 /gene="C1QBP" /frequency="0.02" /replace="" repeat_region 3519..3789 /rpt_family="Alu" /rpt_type=dispersed variation 3561 /gene="C1QBP" /frequency="0.01" /replace="t" variation 3634 /gene="C1QBP" /frequency="0.12" /replace="g" variation 3643 /gene="C1QBP" /frequency="0.07" /replace="g" variation 3644 /gene="C1QBP" /frequency="0.01" /replace="a" repeat_region 3831..4109 /rpt_family="L1" /rpt_type=dispersed variation 3948 /gene="C1QBP" /frequency="0.01" /replace="g" misc_feature 3996..5671 /gene="C1QBP" /note="Region not scanned for variation" repeat_region 4124..4385 /rpt_family="Alu" /rpt_type=dispersed repeat_region 4390..4585 /rpt_family="L1" /rpt_type=dispersed repeat_region 4626..4787 /rpt_family="L1" /rpt_type=dispersed repeat_region 5063..5379 /rpt_family="Alu" /rpt_type=dispersed variation 5783 /gene="C1QBP" /frequency="0.01" /replace="a" variation 5987 /gene="C1QBP" /frequency="0.02" /replace="g" variation 6132..6145 /gene="C1QBP" /frequency="0.09" /replace="" repeat_region 6374..6662 /rpt_family="Alu" /rpt_type=dispersed variation 6954 /gene="C1QBP" /frequency="0.01" /replace="t" repeat_region 7001..7173 /rpt_family="MIR" /rpt_type=dispersed variation 7310 /gene="C1QBP" /frequency="0.08" /replace="g" variation 7656 /gene="C1QBP" /frequency="0.09" /replace="a" variation 7853 /gene="C1QBP" /frequency="0.09" /replace="t" variation 8232 /gene="C1QBP" /frequency="0.98" /replace="" variation 8238 /gene="C1QBP" /frequency="0.09" /replace="g" variation 8260 /gene="C1QBP" /frequency="0.09" /replace="c" variation 8390 /frequency="0.09" /replace="t" misc_feature 8501..10042 /note="Region not scanned for variation" repeat_region 9127..9255 /rpt_family="T2_type" /rpt_type=dispersed repeat_region 9628..9923 /rpt_family="Alu" /rpt_type=dispersed variation 10206 /frequency="0.01" /replace="a" variation 10213 /frequency="0.03" /replace="c" variation 10262 /frequency="0.02" /replace="g" ORIGIN 1 aagaccagtg tgatagtagg ccatgcatct gagatacgat attccttggt aactagaggg 61 agaaaaaaaa atcaagtagg ttcaggctta tgttgtattt tgagagtctg gttttatttg 121 aacagaaata actctacaga aagctcttgt aaataatgct caaatttgca cccgacgatc 181 aaatccatta aaaatgaatc ttgtatatga tgtgtgtggc ttgtttcttg catctctttt 241 ccattattca tagaaaatta tttagaaaat attaagtgtt agtcttacca tgagttagta 301 agacatacct tcttagtagc ttatatgtcc tgtatatcct gggaaggtag gattgttgat 361 ttttaataaa tctgaaccct gtctttgggt tatattaatt tactggagaa actcacagaa 421 ctcagggaaa cacatttacc ggtttcatac aaaagatatg accaaggata cagataagga 481 gatgagcagg gtggggaatg gggaagaagc tcccagcctc catgccgtcc ctggaccacc 541 accctccagg aacctccatg tatttagcta tcagaggctc tccaaaccct gtcctcgggt 601 ttttatggaa gcctctggac ttatctaaat gatataagct ggcttcttgt ccccagaaaa 661 atgatgttcc attagaactt ggatgcaagg ttggaggtgc agagagggaa ggtcacaaaa 721 attaatcatg gatcctgccc ttgaggatgt cacagtctgg ttgggtttaa cctggttaaa 781 gcagcaacgc taggaggttc ctgttgaaaa gagaatgaag catatgggct gggtgcgcac 841 aagcatgagt tccgagccgg tggaaaaaaa ggttctagaa ggcctctttc aggaaaaccc 901 tcagactttc ctttgctctc acaacacaac aatcaacaca gaagacttat gtggccaaag 961 gtttgggttt ttcccctcca cactaagcag cagacaccag ctgggtgtcc tccaattcaa 1021 tcccaacagt atctacctgg agatagtgtc agatcccata ggttgagggc tcagtcccca 1081 agaccgcccc caccttcaga cagcaatggc aagtctgggc ctctgaaact tccgaccaac 1141 ccgcttcaag ttggggttcc cacgaccccc ctctttggat tatgttaact cactggagca 1201 gttcacagaa ctcagggaaa cacattcacc ggtttcatat aaaggatatg accaaggata 1261 cagatgagat gagcagggtg gggaatgggg aagaagctcc gaggttcctt gcctaccctg 1321 ggccaccacc ctccaggaac ctctacgtat tcagctgtca gaggctctgc aaaccctctc 1381 ctcttgggtt tttatggaag cttctggaca tcagcatccc ttcccccagg gtatatggtg 1441 ggaccttctc tgggaaggga cttaagaccc ataatcagaa atgtggaagg agattagagt 1501 cctgctttgg ggcaggtaaa aggagggcag gagaagggga gagagagtct gtttcctgag 1561 gcctaacaca cccaacatta tcacagaaca ttgtaacaag ggctatagga gttacgaccc 1621 aggaactgtg gatgaaaacc aatacatata tatatcataa caccacagcc tcctagagga 1681 aagtgaccgt ggaagggtct ggtgagagct ggcgggagac aagagtgcat tccacgcagc 1741 ccaaaagcct tgcgtgcttt gagaacagca ggtggaaagt gggtaagcgg ccactagagg 1801 gaattaaaca gcttcggaca gcggactcgg cagcgcagca agaaagctcc ggaatccgga 1861 ttcgaggctt cccgggctgc accggaggtc tccagcagag ggcgcgattc cgcccgctgg 1921 ccttaggtcg tcagagcgcc ggcgcgggaa gcgcttccgg gcaggggcgg ggcttccggc 1981 ggcgcctcag gtcgcggggc gcctaggcct gggttgtcct ttgcatctgc acgtgttcgc 2041 agtcgtttcc gcgatgctgc ctctgctgcg ctgcgtgccc cgtgtgctgg gctcctccgt 2101 cgccggcctc cgcgctgccg cgcccgcctc gcctttccgg cagctcctgc agccggcacc 2161 ccggctgtgc acccggccct tcgggctgct cagcgtgcgc gcaggttccg agcggcggcc 2221 gggcctcctg cggcctcgcg gaccctgcgc ctgtggctgt ggctgcggct cgctgcacac 2281 cgacggtgag gtttagcggg ccgggggtgt ggtttgcgtt caacagaggg aaaacgtaga 2341 ccaggaatag ggcctgcaac cgacctctga ggtctgggac atttttccat tgattggcaa 2401 ccagcgggct aaacccacgt atgatcatat ttcccccacc tcccctatcc agcagtttcg 2461 ttttcttttg gtagggggtg aataaaatta aatactaggg tacctttttc cttagtctta 2521 ttctatcgaa agtggacctt tgggaaggcc catggtcgtg gttgaaaata gcatagttat 2581 atcgtttggc aagtggaaga ggattggaaa ttctcctggt ttatagcgga aagtggtaat 2641 gcgttcattg ttggaaatca cttttccaga atcaggctca gcttcctact actattatgg 2701 tatttttacc gataaggaaa caggcttcta gagtaaccgt aatagcagag agattagaaa 2761 cagtccaggt ttctggctgc aataacctgg gtaatagttt tatgttttag actaactggc 2821 tttccttttt atgtatctgg atttcttttc taggagacaa agcttttgtt gatttcctga 2881 gtgatgaaat taaggaggaa agaaaaattc agaagcataa aaccctccct aagatgtctg 2941 gaggttggga gctggaactg aatgggacag aagcgaaatt agtgcggaaa gttgccgggg 3001 aaaagtaagt actggtctgg ggatcccagg gcagcaactc ccttaacctt gcaggaccca 3061 tcctgggtca tccccagaag agccttgagt tcaggtgtgg atactttgat aaatgggttt 3121 caagagagtg aaggattcat ttggacaact tcgtaagccc caggcagtcc attcaccgaa 3181 cacaaatttg ctgtgggctg gttactaagg agacaaaaat gtagtgcaaa aaagtactgg 3241 cagaatcagt ttgatctctg atttacagcc ctgataaaat aggacactgc tctctaatgt 3301 ttagtatggg tgaaaatgaa aaatatgtaa cttctatgta acaggatggg gttacactgt 3361 agtaagggct gccatcagag gtggggagtt tgtgacctaa gtcagctccc ccatcatctc 3421 ctaaactgtt aaagtgttta cacttttctg cattatagtc atccataatc tcattacaca 3481 gataaacatt tggcatcttc caggttttta aattgagcct gggcgcggtg gctcacaccc 3541 ataatcccag cactttggga cgggcagatc atgaggtcag gagaaaatcc tggctaacac 3601 taaaaccctg gctctagtaa aaattaaccg ggtatggtgg cacgtgcctg tagtcccagc 3661 tactcgggag gctgaggcag gggaatcgct tgaacctggg aggtggaggt tgcagtgagt 3721 cgagatcgcg ccaccgcgct ccagcctggg caacagagca agacgccatc tcaataataa 3781 ataaataaat tgaatttcct tcataattga ccttatgatg tgtatgtaat ttttttaaat 3841 cacagctttt atgagattta attgagatgg catacgattt acccatttat tgaagtttat 3901 taaattaagt ggttcttagt cctcgcagaa ttatgcatca gttatcacta cctaattcta 3961 gaacactgtt gtcatcccca aacaatacct attagcagtc actcattatt cctccctgta 4021 gccaccccag gtaatcacta agctactttc tctatgggat tgcctctttt ggacatttca 4081 tataaatgga gtcatacaat ttgtagcttc cccccccaac cccacggagt cttgctctgt 4141 cacccaggat ggagtgcagt ggtgcgatct tggctcactg caacctctgc ctcccaggtt 4201 ctgacaattc tcctgcctca gcctccttag ctgggattac aggcgtgcgt ccggttaatt 4261 tttgtatttt tagtagagac agggtttcac cgtgttggcc aggctggtct caaagtcctg 4321 acctcgtgat ccgcccgcct tggcctccca aagtgctggg atttcaggtg tgagccaccc 4381 tgcccaccct atttaccttt ttaattgttg ggttgtaaaa gttaagtttt tctgggtaca 4441 actatcttat caaattaatg atttgtaagt actgtttccc atcttgtggg tttccttttc 4501 actttcttgg taatgtcctc tgacacaaaa gtttttaatt ttgaggaagt tcagtttacc 4561 tatttttttg gtcgcttgtg cttttttatt tattttttac tttgcttcta attcaccaag 4621 tgcaacttgt gcttttttag tgtcacgtct aagaaaccac tgcctaaccc aaggttgtga 4681 agatgtatgc cttaattttt tcaaagtttt ctagttttag ctcttagttt aggtctgtga 4741 ttcattttga atatggtgtg aagtagggtc ctgattctct tgcctgttgc atagtgtgtt 4801 tttgccctac acaggtcaat tgtgtcttct gtaatctcac ctaaacacca tttgcgcaag 4861 gttttcatag ctatttgggg gccattaaaa ataatgctct gatgaacgtc attcaatttc 4921 tgtgcccagg agctcagctt agtcagcaca gttggaatta gacagatttt gtcaacctca 4981 gactgcctct gttgccatgg aaaggtggct tcctggcaga gcagctagtt agcacaagtg 5041 gagggcggca cttcatgtac tctttttttt tttttttttt ttctgacaga gtcttgctgt 5101 gtctccaggc tggagagcag tggcgtgatc tcggctcact gcaacctcca cctcccaggt 5161 tcaagcaatt ctcctgcctc agcctcctga gtagctggga ttacaggcgc gtaccaccac 5221 gcccagctaa tttttttttt tttttttttt ttgtattttt tagtagagat ggagtttcat 5281 cgtgttggcc aggatggtct cgatctcttg acctcgtgat ctgcccacct cggcctccca 5341 aagtgctggg attacaggcg tgagccactg cgcccagcct tcatgtactc ttgtgtggaa 5401 tggtgcctgc cagagttgca tagcccagca gttttggttc taaaccttat gtcccaagaa 5461 ttttgactca aactttggaa catgatttgt caggtgtgga ttcttgcacc ttaaaattgt 5521 cactagttgg tgtgtctggc ctgctttgtg attatgaaac ttcccacaag tactctaagg 5581 gatgagtctc tactacagcc cttgttcttt gtgaggcatt cccttccccg ttccagggct 5641 gctctcggtg tttagcagag gcaccctcca tcgcttcttc ctttccttgc agggcaaatt 5701 ttctgacggg gaaagtctct taaaggggct tctgttccat ctcaccagcc tctcaggtcc 5761 ttactttgac caagggttcc ctggaaagac cagggtgggc agtgtcagct ggctgtggcc 5821 atgagatgcc cagtcagcac atggcagtga gccctggggt actggccctg ttgggagtaa 5881 cccatgcatg acttgtttgg ctgagataaa ctgaggccag ctttggcttc cagcagctgg 5941 tacatggtag gcacacttca gacctgctga gtcactcagg attggatgta ggcacccagc 6001 ctagtttgaa gttctgcata taattcagcc agctaggaca gagacattgt ttcaatacgc 6061 ctttttaact gtagcagatt tccatgttta tgtgttaacc tgctcggtta aaaccatgcc 6121 ttgtctgttt tgccttgtct gttttccctt gccgttttag aatcacggtc actttcaaca 6181 ttaacaacag catcccacca acatttgatg gtgaggagga accctcgcaa gggcagaagg 6241 ttgaagaaca ggaggtaagc taatactata atcagctttt acctcagttc tgacaggctg 6301 tgcctggggc ttagaggagg agcgtttttc tttggtcttt caaaaaaaaa aaattcctct 6361 aagtccagtc gcatggctca cgcctataat cccagcactt tgggaggccg agacgggcag 6421 atcacgaggt caagagatcg agaccatcct ggccaacatg gtgaaacccc gtctctacta 6481 aaaatacaaa aattagctgg gcatggtggc aggtccctgt aatcccagct actcgggagg 6541 ctgaggcagg agaatcgctt gaacccggga ggcagaggtt gcggtgagcc aagatcacac 6601 cactgcactc cagcctggcg acagagcaag actctgtctc aaaaaaaaaa aaaaaaaaaa 6661 aagagagaga gaatggcagg ggcataagag actttaactg gatcatgcct actcttcaaa 6721 catttcagga agtgctgtgc ccagcctagt aaccagccag tatgagggcc acagagtccc 6781 tagacattct gcccaagagc catcagtaca gtgttgggtc atgacctggt gtggacggcg 6841 cagctctctg gtgtgctgct ttcccagcca ccccaactag catctccctg acgttggacc 6901 cagtctgctc ccagagctcc gcatcagagg aaaagctgct gctgttattc agccataagg 6961 atggccaggt tccccagcct ttgaccctgg tcccttatga agactcctgg aacagtcaag 7021 ctggaaagag atcttgaaac tttaggaaag ctttgcagtg tacgggtgga ggaaaaggct 7081 tggaatgtta agggactgat ataaactcag ttaattggca catagctgag gctggtatcc 7141 acatttctta actgaaaacc cagtgtgtta tttaaccaag cagggtgcca acagaagtga 7201 gatcaagctc ttcatttggg aatagtatgg cataagacta ttcaaatggc tacataatat 7261 cctaatagtg gtggccatca gacactctga acagagatcc ttgatccagc catccatctc 7321 cttccagcag cagcatgtat tgacttcttg tttccccagc ctgaactgac atcaactccc 7381 aatttcgtgg ttgaagttat aaagaatgat gatggcaaga aggcccttgt gttggactgt 7441 cattatccag aggatgaggt atgcaggatg gagtgctagc ctcttggcac ccctggggaa 7501 cagtgtgtcc cttgggaact tcctgtccct attttagcag aaatttaaac acttttctag 7561 cttagaccag cccagcaggg ggagagaggt ggggagtgag ggaagagggt taaaacctga 7621 tgagtttcat gctgtcagtg gccccctttc ttcccctgag tctagcttgt cctggagaac 7681 ccttcagttt cccaatattg tttcttctca ggttggacaa gaagacgagg ctgagagtga 7741 catcttctct atcagggaag ttagctttca gtccactggc gagtctgaat ggaaggatac 7801 taattataca ctcaacacag attccttgga ctgggtgagt gcttgataag gtgggggaac 7861 cttttgggcc ttggaaggaa gggtcctagt tcaaggggag aaaaaagcat tttaatgttc 7921 attacagatt tttttttaac tagtaaatat tgttctttgc aggccttata tgaccaccta 7981 atggatttcc ttgccgaccg aggggtggac aacacttttg cagatgagct ggtggagctc 8041 agcacagccc tggagcacca ggagtacatt acttttcttg aagacctcaa gagttttgtc 8101 aagagccagt agagcagaca gatgctgaaa gccatagttt catggcaggc tttggccagt 8161 gaacaaatcc tactctgaag ctagacatgt gctttgaaat gattatcatc ctaatatcat 8221 gggggaaaaa aataccaaat ttaaattata tgttttgtgt tctcatttat tatcattttt 8281 ttctgtacaa atctattatt tctagatttt tgtataacat gatagacata aaattggttt 8341 atctcctcca aggcagtttg tctttttcta ttcctccccc ttcaacctgc gtcacaaaag 8401 accaagaaca gatgtcggaa aagttttttt ttcttcagta ttgtttaaaa gtttcaatac 8461 aaaataagtt ataaataaaa ggcttgtatg tacaaggctc ctcagaggga atgagttgtc 8521 ttcaacccca tagaatgatg tgagtccaag ctggctctag aggatcacag cccaagtatc 8581 acaggcctag gtttaaacag gaaaataatt agcttaaatt gtattctagt catgaaagat 8641 atctgataaa agttgtaatc aatgagaatt ctacacatta gatgaggtct cctgagtcca 8701 gtttcaatta gttcagtagt gtagtttgtc atgatgaccg cccctctttg gcattgctgg 8761 acctctgtcc tgcagccttc aaacaactgc cctgggaacc atcagcatca atagtcttca 8821 agctaagatc aaatcctgta gatgaactaa tcaaacatcc tcaccatcag gaaaccactg 8881 accagaaaga ttgtattcaa actcttgata gcctggagct tttagagccc agcaggaaga 8941 tgagactcca aatctacaca agattgaagc aggtatgtat cataggggag gtgcaaacca 9001 tgcatgatca gtacgggcag aaaacatgta aagacatgat cagtaagcac ctgagtgtaa 9061 aactgcctcc cgactcctgg gtggctcagc ctctccacta tgctaaggaa tccagtctgt 9121 ccttaaccca tttatgccag aggttgcaaa tttttttgtg tgaaaaatca gaccttggcg 9181 atgaccttga gcagtagggg atcaataact cccacaggct tagcgttcca ataattaaac 9241 agtaggcata agtgggttac tcttgtttct taccacttcc acaggtaata tgtttggctt 9301 tctctaaaag acactgtaac tctgctaata ggcggtttgg catattccat cccaggacca 9361 ccacttgagc accgccacat ccgaaacatt cctcgtcttg tgatagagtg caatcttctg 9421 taacccaccc ctatctttca acacatcctc agccatctgt cctgagcgtc cctacgtcct 9481 gacctcactg gattctaaca caatggtcct tgattccccc ttaagtgaaa accaaaggtc 9541 tagtggaact agagcattcc aaatgtctac ctttccaaat gttgaactca agacctacag 9601 aatacaattt tgtctttccc cctcctcttt tttttttttt tttaaggcac aatctcgctg 9661 tcacccagcc tggagcgcaa tggcgccctc tcagctcact gcaacctctg cctcctgagc 9721 tcaagccatc ctcccacttc agccttccga gtagctggga gtacaggtgc gagccaccac 9781 acccagctaa tttctgtatt tttagtagag acagggtttc accatgttgc ccaggctggt 9841 cttgaattcc tggcctcaag tgatcctccc acctcagcct tcctaaatgc tggggttaca 9901 ggtgtgaacc acagtgcctg gctgtgtttc tcatatttgc tgtgaccccc acctcccctc 9961 acttacccaa caatggtctt cctgcccacc ccagagccgg cactgtcaac tatgatctcc 10021 aagactgctg cacagcactc accttccaaa cctcacctcc tacttagctt cactgctgct 10081 ctgagccaca gggcactgac ggttaggtga gtggataact ggggtccata acaattatat 10141 gctgagctga agctgtacac ttggcaatta ggccatcttc cacttacctt ttaattcccc 10201 ttctcttccc ccgaccagca ttttgtcttt cacactcaag gggactttca tactcaagga 10261 gctgtagact ccagctctgc taccattata atctgtgtgg atgactcact gttcacctta //