LOCUS DQ066422 10217 bp DNA linear PRI 28-MAY-2005 DEFINITION Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (B3GNT6) gene, complete cds. ACCESSION DQ066422 VERSION DQ066422.1 GI:66394589 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 10217) 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 (17-MAY-2005) 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..10217 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" misc_feature 1..2892 /note="Region not scanned for variation" repeat_region 3..117 /rpt_family="L1" /rpt_type=dispersed repeat_region 150..395 /rpt_family="L1" /rpt_type=dispersed repeat_region 427..526 /rpt_family="L1" /rpt_type=dispersed repeat_region 587..643 /rpt_family="L1" /rpt_type=dispersed repeat_region 644..942 /rpt_family="Alu" /rpt_type=dispersed repeat_region 943..960 /rpt_family="L1" /rpt_type=dispersed repeat_region 961..1264 /rpt_family="Alu" /rpt_type=dispersed repeat_region 1265..1413 /rpt_family="L1" /rpt_type=dispersed repeat_region 1418..1717 /rpt_family="Alu" /rpt_type=dispersed repeat_region 1721..2041 /rpt_family="Alu" /rpt_type=dispersed repeat_region 2174..2259 /rpt_family="L2" /rpt_type=dispersed repeat_region 2610..2917 /rpt_family="Alu" /rpt_type=dispersed variation 3113 /frequency="0.05" /replace="g" variation 3196 /frequency="0.31" /replace="t" variation 3293 /frequency="0.22" /replace="a" misc_feature 3297..3684 /note="Region not scanned for variation" variation 3788 /frequency="0.04" /replace="g" variation 3789..3792 /frequency="0.98" /replace="" variation 3815 /frequency="0.15" /replace="t" variation 3915..3921 /frequency="0.90" /replace="" gene 3984..6236 /gene="B3GNT6" mRNA join(3984..5118,5368..6236) /gene="B3GNT6" /product="UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6" CDS join(4063..5118,5368..5559) /gene="B3GNT6" /codon_start=1 /product="UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6" /protein_id="AAY46155.1" /db_xref="GI:66394590" /translation="MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQ YFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHAS VDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLARE GANYALVIDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELV QLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGK VPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQH NKILYRQFKQELKAKYPNSPRRC" variation 4179 /gene="B3GNT6" /frequency="0.17" /replace="a" variation 4820 /gene="B3GNT6" /frequency="0.01" /replace="g" repeat_region 5663..5853 /rpt_family="MIR" /rpt_type=dispersed variation 6505 /frequency="0.05" /replace="c" variation 7178 /frequency="0.02" /replace="t" repeat_region 7437..7587 /rpt_family="L2" /rpt_type=dispersed repeat_region 7659..7955 /rpt_family="L2" /rpt_type=dispersed variation 7741..7742 /frequency="0.09" /replace="" variation 7830 /frequency="0.49" /replace="a" repeat_region 7957..8279 /rpt_family="L2" /rpt_type=dispersed repeat_region 8278..8784 /rpt_family="L2" /rpt_type=dispersed variation 8415 /frequency="0.40" /replace="g" misc_feature 8754..9421 /note="Region not scanned for variation" repeat_region 8885..9048 /rpt_family="Alu" /rpt_type=dispersed variation 9489 /frequency="0.01" /replace="a" variation 9522 /frequency="0.01" /replace="g" variation 9778 /frequency="0.02" /replace="t" variation 10054 /frequency="0.19" /replace="g" variation 10090 /frequency="0.01" /replace="a" ORIGIN 1 gaaaatcaat caatgtaata caccacatta atagaatgaa gaggaaacac caagtgatca 61 cctcaattta tgaacaaaaa gcaagtgaca aaatccaaca cgctttcaag ataaaaagca 121 tgtgacaaag tccaacactc gttcaagata aaaagcatgt gacaaagtcc aacactcgtt 181 caagataaaa atgctgaata aacaaggaat aggtggaaac ttccttcacc tgataaaggg 241 catttatgaa aaatccacaa ataacatcat acttaatggc gaaagaccta aagccttccc 301 ccaaagatca ggaacaagag aaggatacgt ggtttcaccg tttcatctcc tcaacattgt 361 actagaagtt ctagctagag caatttggca agaaatgaac ttctgcactg gggtgggaaa 421 aaaaatggca agaaaaagaa acaaaagtta accaaactga aaaagaggta aaactattca 481 tagtcacaga tgacataata tatacatata tagaaaatcc taaggaatac atgcatacac 541 acagagacac acacacacac acacacagac acgtacacac atacacaaac ttttagagct 601 aataaagtca gcaaagttgc agaattcaag attaacacac aatagcctgg ctcagtggct 661 cgtgcccgta atccaagcac tttgggaggc tgaggtgggt ggatcactcg aggtcaagag 721 ttcaagacca gcttggccaa catggtgaaa ccctgtctct actaaaaata taaaaattaa 781 ctgggtgtgg tggcgcacgc ctgtagtccc agctactaga gaggctgagg caggagaatc 841 acttgaacct aagaggcgga ggttgcaatg aggtgagatc actccactgc actccagcct 901 gggagacaga gtgagactct gcctcaaaaa aaaaaaaaaa aagttaacac acaaaattct 961 ggttgggcac agtggctcat gcctgtaatc ctaccacttt gtgacgctga ggcaggtgga 1021 tcacctgagg tcaggagttt gaaaccagcc tagccaacat ggcaaaaccc cgtctctact 1081 aaaaatacaa aaattagccg ggtgtggtgg catgcacctg tagtcccagc tactcgggag 1141 gttgaagctg gagaattgct tgaacccggg gggcagacgt tgcagtcagc caagatcgcg 1201 ccacttcact cgagcctggg tgaaagggcg aaactccatc tcaaaacaac aacaacaaca 1261 acaaaaattc agttatattt ctatacacta acaatgaaca acgtgaaaag gaaattaaga 1321 aaacaactcc atttacaata ggatacaaaa gaataaaata cctaggaaaa aattaaccca 1381 ggaagtaaaa aacttgtcca ctgaaaatac aaacactggc tgagcttggt agctcactcc 1441 tgtaatccca gcactttggg aggccgaggt gggcagatca cctgaggtcg ggagttcgag 1501 accagcctga ctaacatgga gaaaccctag tctactaaaa atacaaaatt agctgggcat 1561 ggtggtacat gcctgtaatc ccagctactc cggaggctga ggcaggagaa tcacttgaac 1621 ccaggaggca gaggttgcag tgagccgaga ttgagccatt gcactccagc ctgggcaaca 1681 agagcgaaac tctgtctcaa aataataata ataataatag ggctgggcgc agtggctcac 1741 acctgtaatc ccaacacttt gggaggccaa ggtgagtgga tcacctgaag ttaggagttc 1801 gagaccagcc tggctaacat gatgaaaccc catctctact aaaaaataat acaaaaaatt 1861 agccaggcat ggtggtgcac tcctgtaatc ccagctactc aggaggctga ggcaggagaa 1921 tcacttgaac ctaggaggca aggttgcagt gagccaagat cgcgtcattg cactccagcc 1981 tgagcaagaa gaacaaaatt ctgtctcaaa taataataat aataataaat aaaaaataaa 2041 acactgagga ggtcaaagaa aatccacatg gcagcatgtc tgacttctga gcctccagtc 2101 tataaggcct gtgctgaaag gatctgcact tacttttctc ctctttacag ccaaggtcac 2161 cagtggaaac tctcaaggac aatacctgtg tctcctccaa ggcccatccc tcgtgcctaa 2221 cacagttcct ggcagagacc aggtactcag tgtgtgtttt tgctctgggc tgcaaaataa 2281 aggttttctg atcactcttc aactcaacaa ccttggcacc ctactgcctg tggaatagtg 2341 ggacaaacac tttatcctta tttgaagccc tgcccagtct gtcctgacat cccaagattc 2401 agagcactct gccctatagg ggcctccctg gctcagccta aaaagttgag taatatacgg 2461 taattgattt agcagtggca gtgtctgccc ttcccacggc ctctcctgtt ctaaagagtc 2521 cacagatgaa ttaatccaca aatacttatt aagagtatag tggcctgata ttggaatgtt 2581 caaagccttc tgcttaagag tttgtgtgcg gccgggcgcg gtggctcaca cctgtaatcc 2641 cagcactttg ggaggccgag gtgggcggat caggaggtca ggagatccga gaccatcctg 2701 gctaacacgg tgaaactccg tctctgctaa aaatacaaaa aattagccgg gcgtgctgca 2761 tgcgctagta gtcccagcta ctcggggctg aggcaggaga atcgcttgaa cctggaaggc 2821 agaggttgca gtgagccgag atcgcgccac tgcgctccag cctgggcgac agagcgagaa 2881 tccgcctcaa aaaaaaaaaa aaaaaaaaaa aaagagattg tgtgtgttgg ggagcagggc 2941 atgtggacac aaggtctccg ccctaggaga agtgctggag agtaggacaa gtaccactac 3001 ttcggacggg gagggcgatg cctccaatgg ggggcttccc tgattcctgc agatcatacg 3061 ttggccccca acttcacact ggccagaatc ccggttctag tcttttccgt gccaccaacc 3121 cctgggccct ctttctagaa ggaaagaaaa cacctttggc ctctgcccag agctacagac 3181 acctgaagta ggagcaggca ggagatgcgt ggtggataaa gaccagagag acttgggatc 3241 gaattccact ctcaccccca gttcagtttt cttcagcttg ctgctccaca ggcaggatgt 3301 gaaaatttag atgcctcacc cctcgcacct ccagcttgct gctccaaata ggcaggatgt 3361 gaaaatgtag atgcttcccc cccaacctct ataaaacagg gccgacgagg atgggattcg 3421 aacccacgcg tgcaaagcac aatggattag cagtccatcg ccttaaccac tcggccacct 3481 cgtcctacgt gacaggtttg tccacattca cttatctctc atctactccg caccttccaa 3541 gcactaccac gtaagtcgca acgcagacct cttcggacac agggaaagaa gaagccgcgg 3601 aaggaaggga gcgttttgat ttcctttctg ctgagcccgc gccatccttt accacgctgc 3661 agccgagctc tgccgcggtt tccctccgag tccggccgag cgcgccgcgc gttcagggcg 3721 cgcccggtcc agggtgcgcg cgccggcggg gagggagagg agtgcgtccc gggaagccgg 3781 cggggcccgg gcgggcgggc gggcgtctgc acggcgcgcg gccgagcggc ggggccgtgg 3841 ctcctcctcc ctcgtagggg gcgagccggc gcgccggggg ctgggggcgg tggcgggcgg 3901 cgggcggcgg gcggcgggcg gcgggcgggg cggcgctcgg ggctcggctg gcctcggctc 3961 gcctcggctg cgctcggcag gctgcggtaa atccgggctt gcggccgctg gcgtagtctg 4021 tggccgggtg gtcgttgctg cgcgccccga gccccgagag ccatgcagat gtcctacgcc 4081 atccggtgcg ccttctacca gctgctgctg gccgcgctca tgctggtggc gatgctgcag 4141 ctgctctacc tgtcgctgct gtccggactg cacgggcagg aggagcaaga ccaatatttt 4201 gagttctttc ccccgtcccc acggtccgtg gaccaggtca aggcgcagct ccgcaccgcg 4261 ctggcctctg gaggcgtcct ggacgctagc ggcgattacc gcgtctacag gggcctgctg 4321 aagaccacca tggaccccaa cgatgtgatc ctggccacgc acgccagcgt ggacaacctg 4381 ctgcacctgt cgggtctgct ggagcgctgg gagggcccgc tgtccgtgtc ggtgttcgcg 4441 gccaccaagg aggaggcgca gctggccacg gtgctggcct acgcgctgag cagccactgc 4501 cccgacatgc gcgccagggt cgccatgcac ctcgtgtgcc cctcgcgtta cgaggcagcc 4561 gtgcccgacc cccgggagcc gggggagttt gccctgctgc ggtcctgcca ggaggtcttt 4621 gacaagctag ccagggtggc ccagcccggg attaattatg cgctgggcac caatgtctcc 4681 taccccaata acctgctgag gaatctggct cgtgaggggg ccaactatgc cctggtgatc 4741 gatgtggaca tggtgcccag cgaggggctg tggagaggcc tgcgggaaat gctggatcag 4801 agcaaccagt ggggaggcac cgcgctggtg gtgcctgcct tcgaaatccg aagagcccgc 4861 cgcatgccca tgaacaaaaa cgagctggtg cagctctacc aggttggcga ggtgcggccc 4921 ttctattatg ggttgtgcac cccctgccag gcacccacca actattcccg ctgggtcaac 4981 ctgccggaag agagcttgct gcggcccgcc tacgtggtac cttggcagga cccctgggag 5041 ccattctacg tggcaggagg caaggtgccc accttcgacg agcgctttcg gcagtacggc 5101 ttcaaccgaa tcagccaggt gctcataagg gagagggcag gggtaatggg gcaggagggg 5161 tggtgggatc agggagttat gaggagtggc cctggatgga aaggaggcaa tgaagcagga 5221 gggatcatag ttcaggaggt gggtggatgg tgtggaagat ccaggatact tccagagggg 5281 tgaggacgct ggactgtggc tttagggaag tcagtctcag gcctgtcaat gtcatcaaac 5341 tttgctaacc tgtctttcct cctgcaggcc tgcgagctgc atgtggcggg gtttgatttt 5401 gaggtcctga acgaaggttt cttggttcat aagggcttca aagaagcgtt gaagttccat 5461 ccccaaaagg aggctgaaaa tcagcacaat aagatcctat atcgccagtt caaacaggag 5521 ttgaaggcca agtaccccaa ctctccccga cgctgctgag cccttccctc ccctaatctg 5581 agaagtcagc ctcttggctc ctcaggccac catttaggcc tgactggggt aagaaatgtc 5641 gctccacttt acagaggtag ctgtggtgtt gaaacactgg acttggatat ggggtgctgg 5701 gatcgattcc tagctttacc actaactagc tgtgtggcct tgagtaaatc ccgttacctc 5761 tctgagcctc ggttaccctg tctgtaaaaa gggaggtgag aatacctacc tcacggaact 5821 gttgggaggc tcagatgaga tgctatatgt gaaaacattc tgtaagcttc gtacaaatgt 5881 gaagtattaa tattatcgca gtattattgt tgttattatt attgttatta ttaacaatct 5941 tgggtgggta gtaggagagc aaaaagtatg aatgggatgg agctaagaag tctgaatact 6001 taatgaaatg gactttttgg aaagaaatca gatgaaggca taaaatttag ttcttagctc 6061 ttgaacagaa gcctaaaatt cctggttctc tcagggcttc gccttcaagg gttctggagg 6121 agggaagggt ctgcaggttc catgggtgac agcctgagat ctgtcccttc aacgggctgg 6181 gctgggtatg tgcctaccga tgacaatgtg taaataaatg cgtgttcaca cccacagctg 6241 gctccgttac tctcctgagc tgggggtggg gggatcgggg ccggcttctc cccttgcacg 6301 ccgtggggag atggccgcgg acgaagggca ccgtctgcaa agcactgaac catcagggcc 6361 ttccctgcag gccgaaggcc tgcgcgaatg tcggccagtt actatggaga ccggcccgcg 6421 gtatcccagc atgcctcggg accaaactgt ccaactgtga gcatccccga cggtcgcctc 6481 ctgatgacgc acacggaagc accgataggc tctgcctccc gaagaaaagg gagccgcgca 6541 gcgcctacgg gagtccggcg gcagcagccg gtaccggcaa ccacgggcag ctctcaggga 6601 atctccgtcg tgaggccaga ggctccagtc cccgcggtgc gtatcgtcat gcatggcttt 6661 tggttcgccc tctccggtta gtcgagcagg gccggcacaa cctcctcctc cgaggccgaa 6721 gcagagattt aaccggcctg acgcgtgctg ggctgcgggc gagccagtga tattccggcc 6781 cgctccggcg catctagaag ggagcgggag gccccctggg cgctgcggag aagctggatt 6841 gacctctgcg agagtgggga gggtctgcct tccctagggg cctgccccgg aggagctgcc 6901 attctgaaaa gataaattgc ctgtgtacag cgctttacag tgtgcttttc catcccttac 6961 cacctgtgag ctcctcaaca ctcagagcag gaatggttat ccgctttttg cacccggggt 7021 aaggtgggaa ggttgtgact taactcactc ataatcagaa ccagggggag gaaagaaagg 7081 cttctggaag agatagactt aagctgcatc ttacaaagtg aatatactaa cagtgaagag 7141 gcattgcaaa tgttgggaac tgaggcttga taacgggaag atgaagctgg tttagagaac 7201 cgagcctttc aagtcaggtg caggtcatta gtgaaattgt tgaggaatat gactaaacac 7261 tcacctaggc caggcttact atacacaact tgaactggtg tcaaggaaag cttgctacca 7321 ttacagggac ctgggactac cgaaaagtaa aaactaatgt ctgtctcaca aaaaattttt 7381 ttgttaaatt tgtatttgca aatcctccag tcatcaagtg aaccagcact gtgctaggta 7441 aataagttac atgtgcagcc cctgccctag tgaggctcat agactgattg cggggacaga 7501 tatgagaaca ggcaaataga tataaacaaa gcttcctgga gggagtggtg tctgcactgt 7561 tctaaaggac tacaaagcag tgtccagaga agttggaaga acacaataaa atagaagcct 7621 gcaggaggtt gagagattat ctgctgagag gactgttttc ttcttcttag gtgatctctt 7681 ggcagtactt ggcactatca gtgcaattac tccttggcag tacttggctt tcttctaaaa 7741 ctctctttct ccaccacttc gggttttgcc tcctcctttg taggggtctc ctcatctgcc 7801 cctttggtga ccctgggcgt cttctgatcg cacacattgt gccttgctgg ttgcaccttc 7861 tcctgtggca tgaagaactt gctgtatgct gacgaccaaa tccctgcagc tcagatttct 7921 cactgagact tagacccatg ttcccccagc tgctttcctt ctcttatttc tgggtctttg 7981 ctactgactc tacctggaat gttccctcaa taagtgcagc tcacccagct ggtccatctt 8041 tgtctggaag cctccctgct gcatcgggct ccaggtcctg gttatatacc cctcccttat 8101 gcccctggtc ttaactctcc tcctatcatg gttatagtgt gctcctttgc ccctgtctcc 8161 caggaacttg taaactccgt gaggtcaaag acattcacac ttgggcgcct gcataccata 8221 gcgtctgacg gtacctagca tatgttagat gttcaataca tgttagatga gtcagtaaaa 8281 gaaggaatgc ttaccagtgt tggatgttgc cgagcagaca attaaaataa gcactgaaaa 8341 atattggcat tagccacaag gaagtcattg gttaatgcta cgggatcagt ttcagctgag 8401 attgaggaca tcgaacaagt gggaggtgaa agtaggaaca gccagtgttc atgagacctt 8461 gaaaagtgta actgtgaagt ggcaaatgga gcagttaggt ggaatgggtg aggttttgtg 8521 tttctgtgtt ttgttaatgc taggaagtac ccaagcacat ccaaagtttc atgggaagga 8581 ggttgctaag agttagaagc tgaagacaca gaaaagagag gggagcactg atgacctgcg 8641 gtccaagagg aagcagaagg agatgggatt tgacccagag cacaatgaaa gacaaggaga 8701 ttgtaacatt atctggaaga gaagccgagg acattatagg cagaaggaac agctgaggca 8761 gagggtggat agtggaagtg caagcactag ccattatatg ttgggatgaa ggagctggac 8821 cggtaggtca agtccagtct gggaaagacc ttgaaagccc cagttagaaa tttaggtcca 8881 gtttgggtgt ggtgcgggcg cctgtaatct cactactcag gaggctgagg caggagaatc 8941 gcttgaaccc aggaggagga ggttgcagtg agctgagatc gtgccactgc actccagctt 9001 gtcaacagag cgagactctg tctcaaaaaa taataagaag aaaagaaatt taggtccagt 9061 tgcaaaggca gtggagagtg ccccctgggc ctttcctttc tgtggatcac agccttggcc 9121 agtattgcta ggattaggat caccagtgac atccaagagc aggagcagtt ccacagctcc 9181 cagccttctg tgagaggtgc agatggccat ttgcaccctt gtcacccagt ttgtgctcaa 9241 ggtgtggcca ggccagttac ttccctggct ttccccatct gggatcgagt tgtgttcagc 9301 atcctgctgc ctctttcccc ctctgagctg tgggcagcca taagtgatag ctccattcct 9361 tctcccagag tccagatgcc tgtccagcct ccaagcaaag acacagaaga gatggaagca 9421 gagggtgatt ctgctgctga gatgaatggg gaggaggaag agagtgagga ggagcggagc 9481 ggcagccaga cagagtcaga agaggagagc tccggtgagc ccctacacac acagacacac 9541 acacacacac acacacacag agcccctaca cacacacatg cacacacaca gcccctacac 9601 acaagcatgc acgcacatgc acatacagcg cctacacaca agcacataca cagaccctgc 9661 acacaagcgc acacacgcac acacagcccc tacacacaag cacgcacaca cagcccctac 9721 acacaagcac gtatgcacac acacagcccc ttcacacaag tacacgtgca cacagcccct 9781 tcacacaagc acgcacgcat atgcacacac agcccctaca cacaagcaca cacgcacaca 9841 cacagcccct tcacacaagc atgtacgcgc acacacacac aggccctaca cacaggcatg 9901 catgcacaca cacacatgca ggacgcacat gcacacatgc gggtacccac cactcctccc 9961 cagagctagc ccttactggc ctcttgtccc agagatggat gatgaggact atgagcgacg 10021 ccgcagcgag tgtgtcagtg agatgctgga cctagagaag cagttctcgg agctaaagga 10081 gaagtgagcg tggggacacc ttgggctggg tctgcgagga tctgggatga ggaggtggtg 10141 ggcctggtac tgggcaggcg tggttggtgc ccaggaagtg cgcgcctaac accgggcttg 10201 ctgtggaatg ggtgctg //