LOCUS AF551848 9956 bp DNA linear PRI 13-DEC-2002 DEFINITION Homo sapiens B-factor, properdin (BF) gene, complete cds. ACCESSION AF551848 VERSION AF551848.1 GI:25070930 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 9956) AUTHORS Rieder,M.J., Carrington,D.P., Hastings,N.C., Ahearn,M.O., Kuldanek,S.A., Rajkumar,N., Toth,E.J., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (08-NOV-2002) 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..9956 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" repeat_region 1..75 /rpt_family="Alu" /rpt_type=dispersed variation 480 /frequency="0.01" /replace="c" variation 697 /frequency="0.03" /replace="t" gene 1492..7484 /gene="BF" mRNA join(1492..1684,1772..2005,2406..2591,2747..2920, 3141..3242,3344..3480,3773..3911,4229..4360,4642..4743, 4819..4956,5451..5548,5687..5804,6020..6173,6269..6345, 6545..6645,6742..6874,6956..7005,7276..7484) /gene="BF" /product="B-factor, properdin" CDS join(1621..1684,1772..2005,2406..2591,2747..2920, 3141..3242,3344..3480,3773..3911,4229..4360,4642..4743, 4819..4956,5451..5548,5687..5804,6020..6173,6269..6345, 6545..6645,6742..6874,6956..7005,7276..7431) /gene="BF" /codon_start=1 /product="B-factor, properdin" /protein_id="AAN71991.1" /db_xref="GI:25070931" /translation="MGSNLSPQLCLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEI KGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTGSWSTLKTQDQKTVRKAECRAIH CPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSC QDSFMYDTPQEVAEAFLSSLTETIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLD GSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKIWVKVSEADSSNADW VTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLH NMGGDPITVIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQ HVFKVKDMENLEDVFYQMIDESQSLSLCGMVWEHRKGTDYHKQPWQAKISVIRPSKGH ESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYNINGKKE AGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLP AQDIKALFVSEEEKKLTRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLC TGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWGVVDVCKNQKRQKQVPAHARD FHINLFQVLPWLKEKLQDEDLGFL" variation 1646 /gene="BF" /frequency="0.03" /replace="a" variation 1801 /gene="BF" /frequency="0.13" /replace="t" variation 1802 /gene="BF" /frequency="0.21" /replace="a" variation 2291 /gene="BF" /frequency="0.01" /replace="a" variation 2512 /gene="BF" /frequency="0.02" /replace="t" variation 2557 /gene="BF" /frequency="0.11" /replace="a" variation 2766 /gene="BF" /frequency="0.04" /replace="a" variation 3154 /gene="BF" /frequency="0.02" /replace="t" variation 3236 /gene="BF" /frequency="0.03" /replace="a" variation 3568 /gene="BF" /frequency="0.02" /replace="t" variation 3684 /gene="BF" /frequency="0.05" /replace="g" variation 4022 /gene="BF" /frequency="0.28" /replace="a" variation 4115..4117 /gene="BF" /frequency="0.02" /replace="" variation 4538 /gene="BF" /frequency="0.01" /replace="g" variation 4573 /gene="BF" /frequency="0.19" /replace="c" variation 4607 /gene="BF" /frequency="0.04" /replace="a" variation 4913 /gene="BF" /frequency="0.01" /replace="t" variation 4963 /gene="BF" /frequency="0.01" /replace="c" repeat_region 5118..5303 /rpt_family="MIR" /rpt_type=dispersed variation 5162 /gene="BF" /frequency="0.20" /replace="c" variation 5180..5181 /gene="BF" /frequency="0.81" /replace="" variation 6088 /gene="BF" /frequency="0.01" /replace="g" variation 6484 /gene="BF" /frequency="0.11" /replace="g" variation 6527 /gene="BF" /frequency="0.04" /replace="t" variation 6642 /gene="BF" /frequency="0.01" /replace="g" variation 6943 /gene="BF" /frequency="0.01" /replace="g" variation 7202 /gene="BF" /frequency="0.45" /replace="a" variation 7454 /gene="BF" /frequency="0.04" /replace="t" variation 7541 /frequency="0.20" /replace="c" variation 7580 /frequency="0.19" /replace="c" variation 8221 /frequency="0.01" /replace="c" variation 8311 /frequency="0.20" /replace="t" variation 8497 /frequency="0.16" /replace="t" repeat_region 8662..8930 /rpt_family="L2" /rpt_type=dispersed variation 8690 /frequency="0.09" /replace="" variation 9099 /frequency="0.21" /replace="a" variation 9110 /frequency="0.01" /replace="a" variation 9878 /frequency="0.20" /replace="a" ORIGIN 1 aactcctgac ctcaagtgat ctgcctgcct caacctccca aagtgctgag attacaggcg 61 tgagccactg cacccacccg ggtctgctta ttctaccctt ctctctggtt ccacccctgc 121 tgcagtggac aagctgtgcc gaggttgtct cccaagaaaa aaccatgttc cccaacttga 181 cagatgtcag ggaggtggtg acagaccagt tcctatgcag tgggacccag gaggatgaga 241 gtccctgcaa gggtgagtcc ctcaccatgc ctggattccc aaggggaagg ccacctgtgt 301 ctctgtggcc agcatgcatg ccagaacacc agtccactgc cctagatgac actgtctcct 361 gtcacccttt gctggcagga gaatctgggg gagcagtttt ccttgagcgg agattcaggt 421 tttttcaggt gagaaggtag aagcttgcag gacccagggg ttacaggatc tcagccttgt 481 tggggggatg agggaggcct ttgagggatc tagggaggtt ggggcttaca gttggggctg 541 tggcagcctc ccagccagtt ctctcctttt ctccaggtgg gtctggtgag ctggggtctt 601 tacaacccct gccttggctc tgctgacaaa aactcccgca aaagggcccc tcgtagcaag 661 gtcccgccgc cacgagactt tcacatcaat ctcttccgca tgcagccctg gctgaggcag 721 cacctggggg atgtcctgaa ttttttaccc ctctagccat ggccactgag ccctctgctg 781 ccctgccaga atctgccgcc cctccatctt ctacctctga atggccaccc ttagaccctg 841 tgatccatcc tctctcctag ctgagtaaat ccgggtctct aggatgccag aggcagcgca 901 cacaagctgg gaaatcctca gggctcctac cagcaggact gcctcgctgc cccacctccc 961 gctccttggc ctgtccccag attccttccc tggttgactt gactcatgct tgtttcactt 1021 tcacatggaa tttcccagtt atgaaattaa taaaaatcaa tggtttccac atctctcagt 1081 gcctctatct ggaggccagg tagggctggc cttgggggag ggggaggcca gaatgactcc 1141 aagagctaca ggaaggcagg tcagagaccc cactggacaa acagtggctg gactctgcac 1201 cataacacac aatcaacagg ggagtgagct ggatccttat ttctggtccc taagtgggtg 1261 gtttgggctt actggggagg agctaaggcc ggagaggagg tactgaaggg gagagtcctg 1321 gacctttggc agcaaagggt gggacttctg cagtttctgt ttccttgact ggcagctcag 1381 cggggccctc ccgcttggat gttccgggaa agtgatgtgg gtaggacagg cggggcgagc 1441 cgcaggtgcc agaacacaga ttgtataaaa ggctgggggc tggtggggag caggggaagg 1501 gaatgtgacc aggtctaggt ctggagtttc agcttggaca ctgagccaag cagacaagca 1561 aagcaagcca ggacacacca tcctgcccca ggcccagctt ctctcctgcc ttccaacgcc 1621 atggggagca atctcagccc ccaactctgc ctgatgccct ttatcttggg cctcttgtct 1681 ggaggtaagc gagggtaacc ttcccttcct gctgtctcca gcatccctcc ttggcctttt 1741 ggggccaggc ttcatcagcc tttctcttca ggtgtgacca ccactccatg gtctttggcc 1801 cggccccagg gatcctgctc tctggagggg gtagagatca aaggcggctc cttccgactt 1861 ctccaagagg gccaggcact ggagtacgtg tgtccttctg gcttctaccc gtaccctgtg 1921 cagacacgta cctgcagatc tacggggtcc tggagcaccc tgaagactca agaccaaaag 1981 actgtcagga aggcagagtg cagaggtttg agggcaatga gtgtgggcag tggcctaagg 2041 cagaaacagg gcaggcggca gcaaggtcag gactaggatg agactaggca gggtgacaag 2101 gtgggctgac cgggagtagg agcagtttta gggtggcagg cggaaagggg gcaagaaaaa 2161 gcggagttaa cccttactaa gcatttaccc tgggcttcca ggcagccctg gaagtcaaga 2221 gaacactcag aaatggggag ggagaagcag tggaaatcca tatgggttga ggagtaggta 2281 agatgctgct tctgcgggac tgggaatgcg ctgtttctca gtgacatggt ctccgagacc 2341 aggagggata cacctaaggc agcctttccc tcttgatgac ttctacttgt ccccccttct 2401 caaagcaatc cactgtccaa gaccacacga cttcgagaac ggggaatact ggccccggtc 2461 tccctactac aatgtgagtg atgagatctc tttccactgc tatgacggtt acactctccg 2521 gggctctgcc aatcgcacct gccaagtgaa tggccggtgg agtgggcaga cagcgatctg 2581 tgacaacgga ggtgagaagc atcccctccc cctacattgc tgtctccctg acggcgccca 2641 gcccgaggag tgggcactcg gctccggaca ctgtaactct tgctctctac cttgctcacg 2701 gggcctcagg cttcagtgct tacctcgatg tctcatacct ctgcagcggg gtactgctcc 2761 aacccgggca tccccattgg cacaaggaag gtgggcagcc agtaccgcct tgaagacagc 2821 gtcacctacc actgcagccg ggggcttacc ctgcgtggct cccagcggcg aacgtgtcag 2881 gaaggtggct cttggagcgg gacggagcct tcctgccaag gtgacctttg acctgtaccc 2941 ccaggtcaga tcctggtctt ccatcctact gtcttctctc cccacctcaa ccctgctctt 3001 tcctcacttt gtttaaacct ccctgtacaa ctatctcact tctgagcctt ttataccctg 3061 gaaacccatg atcccccgtc tctttggtca ctgtatccct gacactccca gacatttgac 3121 ctcatttctg actctcccag actccttcat gtacgacacc cctcaagagg tggccgaagc 3181 tttcctgtct tccctgacag agaccataga aggagtcgat gctgaggatg ggcacggccc 3241 aggtttgaag acagagaagg gaggcagggc agggaactgg gggaaaatgg agaagggaca 3301 gaactgttaa tgctggagcc tgagccactc tcctggcacc caggggaaca acagaagcgg 3361 aagatcgtcc tggacccttc aggctccatg aacatctacc tggtgctaga tggatcagac 3421 agcattgggg ccagcaactt cacaggagcc aaaaagtgtc tagtcaactt aattgagaag 3481 gtggaatcct cctatccctg aactcggggg aatggaatct cgctgatctt ccaggactag 3541 ctccctgatc attccagccc ctctgaacaa cagggcccca ggaaaatctc caggtcctat 3601 tctgtcctcc ttccctttta cttgaagcag tttcttgact ggtaattcct ccatgaacct 3661 cagcccttga gcctcttact gagagcctcc ctgtcccagc aaagtcgctg aaatctccca 3721 atcacagtat tctattttca atgccatggc gccttgttct cctcacccac aggtggcaag 3781 ttatggtgtg aagccaagat atggtctagt gacatatgcc acatacccca aaatttgggt 3841 caaagtgtct gaagcagaca gcagtaatgc agactgggtc acgaagcagc tcaatgaaat 3901 caattatgaa ggtcagaggt tagggaatgg tgggaggttc actttggggt caggaggttc 3961 agggtggagg gggtcatgag actaccttga gggcgacagg gaggaccact ttgtagtcaa 4021 aggttgaaca gcaggatcgt tgggcaatgg aggttagtgg gaacctgttg ggggctggaa 4081 gggccacttt gtggtcaaag ggaagtccgt gtaatgatga ttaacttaaa aagttgaaag 4141 atgtgggatt tcagttgcag attggtctct ggggttaaaa gatggcttgg aagaccaggt 4201 gaggtgatgg tctcttccct ctccacagac cacaagttga agtcagggac taacaccaag 4261 aaggccctcc aggcagtgta cagcatgatg agctggccag atgacgtccc tcctgaaggc 4321 tggaaccgca cccgccatgt catcatcctc atgactgatg gtcagaaggg acctctctcc 4381 tgtcccagcc tccccacctt ctcagaccag catgtggccc ttaagtccac ttgtaacact 4441 atacccatgg ttggggccct gaatgtgact catagctggc tgttcatctc tcctgtgacc 4501 cttcataagg aattcttcct aagccctgtg atcaactatc tctaaccctt cctcaacttg 4561 ctcaccctgc catgtgtatc cctgccttta gccagtttat cttccttatc tcctaccctc 4621 atggtcctgt ctcttctgca ggattgcaca acatgggcgg ggacccaatt actgtcattg 4681 atgagatccg ggacttgcta tacattggca aggatcgcaa aaacccaagg gaggattatc 4741 tgggtgagta acctgcctag gacccagcac cccacttcct cagggcttgg accctcatcc 4801 ttccttttta tccctcagat gtctatgtgt ttggggtcgg gcctttggtg aaccaagtga 4861 acatcaatgc tttggcttcc aagaaagaca atgagcaaca tgtgttcaaa gtcaaggata 4921 tggaaaacct ggaagatgtt ttctaccaaa tgatcggtag ggagatacaa gggaataaag 4981 aacacaactc tcctcaggtt cccctgaagt aattcattct tcctctacac ctgaagctct 5041 agttgcctgg aaagccttct tcattcctcc ttctctacct cagtgtcact attcttgttt 5101 cctggcactg ttcacttaac cttagaatca cagagctctg agcacttcag agatctttct 5161 atagtcctac atttgacaca tgtggaaaca gaagccaaag gaggtcaagg gacagcaagt 5221 tagcaacaag ggtgggcttg aaaacagcca ggcctctgac agcttgatcc caagttcttt 5281 cccttttcag tccaccatag cagttttctc ctaacacgag gaaacaaata cccgtggtct 5341 ttccctttct ccttttgggc ctttgctccc catagactcc tacccaaaag gctgctgcca 5401 tttgggaatg aagtgttccg agttttcagc acattctcct tctctgccag atgaaagcca 5461 gtctctgagt ctctgtggca tggtttggga acacaggaag ggtaccgatt accacaagca 5521 accatggcag gccaagatct cagtcattgt aagcacagaa tcccagtagt ggggacttgg 5581 gggaggtgag gtcaaggtga aatgggagta ggggaaggaa aaaatggcca taagagatgg 5641 tggtttgtga aagttgagct ttccctctct actgttgtgt ccccagcgcc cttcaaaggg 5701 acacgagagc tgtatggggg ctgtggtgtc tgagtacttt gtgctgacag cagcacattg 5761 tttcactgtg gatgacaagg aacactcaat caaggtcagc gtaggtaagg atgcaactga 5821 aggtcctggg ctgcacctat gctctccagg caacacctcc cactttctac agatcctaca 5881 ctccacccat cctcaatgca gccccattcc ttgcacccca gaccagtcag ggatggggga 5941 agacgtgaag ttaggaatga cacggggcca gaggcaggaa gctgcccaca aagaggtggt 6001 acctactctc ctacttcagg aggggagaag cgggacctgg agatagaagt agtcctattt 6061 caccccaact acaacattaa tgggaaaaaa gaagcaggaa ttcctgaatt ttatgactat 6121 gacgttgccc tgatcaagct caagaataag ctgaaatatg gccagactat caggtgagag 6181 cgtccagatc cctgaggaaa ggctgggaaa ggctggagga ctggggtgag gagcaggcct 6241 ggtttgctgt tctccttgtc ctttataggc ccatttgtct cccctgcacc gagggaacaa 6301 ctcgagcttt gaggcttcct ccaactacca cttgccagca acaaagtaag acatacttgg 6361 caagaggata aggatgagat cccaagagac aagtggggca tgagagggag gtgcaatagg 6421 aagagatgat gcctggccca gaacctagct ctagaagggc ttaggggaca tctactgagt 6481 gacaaaggca atggggagat gacagtggtg ggagcagctg aagtgacgca gtctattcgt 6541 ccagaggaag agctgctccc tgcacaggat atcaaagctc tgtttgtgtc tgaggaggag 6601 aaaaagctga ctcggaagga ggtctacatc aagaatgggg ataaggtgag aaacgggcat 6661 cctaaggagg cactctaggc cccaatcctt cctaagccac ttctgttcat tacttctcca 6721 tgcttcccac ctcccctaca gaaaggcagc tgtgagagag atgctcaata tgccccaggc 6781 tatgacaaag tcaaggacat ctcagaggtg gtcacccctc ggttcctttg tactggagga 6841 gtgagtccct atgctgaccc caatacttgc agaggtgaga gaatgctctt tggttgtgct 6901 acaagtgccc aaggcccaac agtccttttc tctacagctt ctcctctcct tgcaggtgat 6961 tctggcggcc ccttgatagt tcacaagaga agtcgtttca ttcaagtgag tcctcccttt 7021 cctatctggg gagatgccaa gtggtcagca tgggccccaa agcaggaaag ctcaatgcat 7081 gtggctagta attcgaggta ggcagagcct gcctcacctt aggaccgcat gtcttgcctg 7141 cgtgtgtcaa gaacgaggct gagctgggtc cctagtctga ttcctttagg tcagctaaga 7201 cgcaagcagg aacagccatg cttccaggat taggaattct actgaatgat ccatggcacc 7261 ccactgcctc tgcaggttgg tgtaatcagc tggggagtag tggatgtctg caaaaaccag 7321 aagcggcaaa agcaggtacc tgctcacgcc cgagactttc acatcaacct ctttcaagtg 7381 ctgccctggc tgaaggagaa actccaagat gaggatttgg gttttctata aggggtttcc 7441 tgctggacag gggcgtggga ttgaattaaa acagctgcga caacacctgt gttccagatc 7501 cttttggggc aagggagtgg ggaacaggca ctggccatgt tgttacactg agatcaaacc 7561 tgacagccgt ttttaaaggt ttaaccccaa tcccaagtgc tgaaaaacca gaggctgagg 7621 gagatgtgta agcttccacc tcagtgtttt actgagacca gcattggggc atatgaggca 7681 caaggaatcc agctctgttc cctagaagcc atccacaagg ttttccttgt agacgtcatc 7741 actgtagaca atctgggtcc tcttgtcccg gtggcaaccc ttagggctgt tctggacagc 7801 tagggaggga ggagaggaac agttaaggtc taaaggagat catagaacag accctgaggc 7861 tgactcctga ccacctcact cctggccact ggcccctgga agcccagttt ccacgctgcc 7921 ctctggtggc caggatggcc tgtcttcctt agctcctttg tgccaaccca tggccaagaa 7981 aagtataagt ggacattttg atgaatgttt tgttcttaga aaaatcccaa atgtcattgt 8041 tgagacacgt gaatgatatt aacccactac ttacagtcag tatgtcagaa gctaaaaact 8101 agaaaacctc tgtagccctt ttttgacatg ctggtcaatt ctagttcctt tcttttgcct 8161 gaagggccac tgtagctgag cccttctttc tgctcactcc tttcccagga aaatctactt 8221 tcagggaaaa tggattattc acactaagaa atgctactag ctccaccaga actcattcag 8281 ggtgtagctt tggccctcac cattctctct caagcctcta gctgtttctt ccccttcctc 8341 tttcctccct ccaccagaca tgttactctc ttcaccccat ccaatggttc catccccacc 8401 acccttgagc tacagagaat ctctctcacc cactcccatc ctgtgatctc tgtgcctcaa 8461 cactgctggc tactccctct ttctcaaagt gtgtgtcctt ttgcttcagt ggcccaggcc 8521 cctgcggtgc tgctcccagc cctccgaccc ctcctcctgt ctcctttgct aacgttaggc 8581 tcaacgttag cctaacatgt caggacagct ggggacatgt ggggtgtgag gtgaacagtc 8641 ctgtttccta acatagtccc agagtactcc tcaaactgag tcctgggtcg tttttttttc 8701 tctgaaatca gagtctccct gatgatccta ttgtttggca gccaccctgt gatgtggatg 8761 acttaatcta tgttttcctt ccttacctca cacctgagtt ccagatccct gatttcgaat 8821 acttatgaaa ctcactctac tccatctcaa aatgaacaag ccccatgaga cactcatctt 8881 cctcaccaat ctcactccag ctcccacttt cttccctgtt ccagtcactg ctttggaagc 8941 tgttttcaat ccttttctct cctttcttta cctctaactg acagaggatc tgaaattttc 9001 cttcccattc ccatagcctc cgcacacact ctgacctcga tcatctctag gaaacccaag 9061 gatgtgtggg ggaaccaaaa ggaatggcct gtgggggaga ggatgggaaa ggaagaatcc 9121 cattcttacc gagggagccc cagacagact tgccagtagc ggcatccagc atgggctgtt 9181 ttcgggctat gttgactttg agctgtacag actccacctg ggtcccgttg agctgaagca 9241 gaagagggga ggcagaggat ggggaggaaa acattacaga taaaccaaag aagttattcc 9301 aggagttgct atcctaggag gagactgaat aaggaatctg agaatgtgag tttttctgtg 9361 tgaataggga gaggctttct ttatcaagag gaaccaactt cttcctggca tctagtattt 9421 tgaggagaac acatgagaac agcagaagcg atgggaagaa cagatttggg aagttccaac 9481 ctcagcaacg gcctgatctg ctgactccat cttttcatag gtgacgaagg cacagctggg 9541 ataagagaaa acacggtcag tggagagcca aggggctctt ctggacccaa ccaaacccag 9601 tgataatagg cggctgcagg gagggcagct tcttccctca ggtctcacac cccaggattc 9661 tcccaggact tctcatcatg ccctgttgtc atccttactt tctgggtggg tccatggaga 9721 ggtcaatgat gtttccaaaa ggagagaagg ccccacggag aagggtgggt gtcatgtctt 9781 ctccatatac atagagagta ttccctttcc taggggctcg ccgttcaggg aatgaatccg 9841 accctttggg agcacaaatc atagtcacaa gacatagccc atgccacatt tcacttagta 9901 ggacccacat aaacctcagt taaggtcacc ttgacctcca gccaaaatca ctcact //