ABO > ABO
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|---|---|---|---|---|---|---|---|---|---|
| nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
| c.188G>A | p.Arg63His | Exon 4 | chr9:None | chr9:133259834 | |||||
| c.189C>T | Exon 4 | chr9:None | chr9:133259833 | ||||||
| c.190G>A | p.Val64Ile | Exon 4 | chr9:None | chr9:133259832 | rs56335272 | ||||
| c.220C>T | p.Pro74Ser | Exon 5 | chr9:None | chr9:133258116 | |||||
| c.1A>G | p.Ala2_Met20del | Exon 1 | chr9:136150605 | chr9:133275189 | |||||
| c.2T>C | p.Ala2_Met20del | Exon 1 | chr9:136150604 | chr9:133275188 | rs782578311 | ||||
| c.46G>A | p.Ala16Thr | Exon 2 | chr9:136137554 | chr9:133262151 | rs55917063 | ||||
| c.53G>T | p.Arg18Leu | Exon 2 | chr9:136137547 | chr9:133262144 | rs55876802 | ||||
| c.66_67insG | p.Phe23Valfs*34 | Exon 2 | chr9:136137533 | chr9:133262130 | |||||
| c.87_88insG | p.Val30Glyfs*27 | Exon 2 | chr9:136137512 | chr9:133262109 | |||||
| c.98+2T>C | Intron 1 | chr9:136137500 | chr9:133262097 | ||||||
| c.103G>A | p.Gly35Arg | Exon 3 | chr9:136136773 | chr9:133261370 | rs8176696 | ||||
| c.106G>T | p.Val36Phe | Exon 3 | chr9:136136770 | chr9:133261367 | |||||
| c.155+5G>A | Intron 3 | chr9:136136716 | chr9:133261313 | rs782187929 | |||||
| c.203G>C | p.Arg68Thr | Exon 4 | chr9:136135223 | chr9:133259819 | rs781831728 | ||||
| c.203+1delG | Intron 4 | chr9:136135222 | chr9:133259818 | rs782023144 | |||||
| c.236C>T | p.Pro79Leu | Exon 5 | chr9:136133490 | chr9:133258100 | rs782069936 | ||||
| c.247G>T | p.Asp83Tyr | Exon 6 | chr9:136132922 | chr9:133257535 | |||||
| c.261delG | p.Thr88Profs*31 | Exon 6 | chr9:136132908 | chr9:133257521 | rs8176719 | ||||
| c.266C>T | p.Pro89Leu | Exon 6 | chr9:136132903 | chr9:133257516 | |||||
| c.268T>C | p.Trp90Arg | Exon 6 | chr9:136132901 | chr9:133257514 | rs781914378 | ||||
| c.278C>T | Exon 6 | chr9:136132891 | chr9:133257504 | ||||||
| c.297A>G | Exon 6 | chr9:136132872 | chr9:133257485 | rs8176720 | |||||
| c.311T>A | p.Ile104Asn | Exon 6 | chr9:136132858 | chr9:133257471 | rs782676228 | ||||
| c.318C>T | Exon 6 | chr9:136132851 | chr9:133257464 | rs8176721 | |||||
| c.322C>T | p.Gln108Ter | Exon 6 | chr9:136132847 | chr9:133257460 | rs77805226 | ||||
| c.347T>C | p.Ile116Thr | Exon 6 | chr9:136132822 | chr9:133257435 | rs782433687 | ||||
| c.350G>C | p.Gly117Ala | Exon 6 | chr9:136132819 | chr9:133257432 | rs782113784 | ||||
| c.351G>A | Exon 6 | chr9:136132818 | chr9:133257431 | rs1404871416 | |||||
| c.370A>G | p.Lys124Glu | Exon 6 | chr9:136132799 | chr9:133257412 | |||||
| c.374+4A>G | Intron 6 | chr9:136131739 | chr9:133256352 | rs782069432 | |||||
| c.374+4A>T | Intron 6 | chr9:136131739 | chr9:133256352 | rs782069432 | |||||
| c.374+5G>A | Intron 6 | chr9:136131738 | chr9:133256351 | rs1289213676 | |||||
| c.385T>C | p.Phe129Leu | Exon 7 | chr9:136131732 | chr9:133256345 | |||||
| c.407C>T | p.Thr136Met | Exon 7 | chr9:136131710 | chr9:133256323 | rs55658842 | ||||
| c.410C>T | p.Ala137Val | Exon 7 | chr9:136131707 | chr9:133256320 | rs782080286 | ||||
| c.425T>C | p.Met142Thr | Exon 7 | chr9:136131692 | chr9:133256305 | |||||
| c.426G>C | p.Met142Ile | Exon 7 | chr9:136131691 | chr9:133256304 | |||||
| c.434A>G | p.His145Arg | Exon 7 | chr9:136131683 | chr9:133256296 | |||||
| c.452T>G | p.Val151Gly | Exon 7 | chr9:136131665 | chr9:133256278 | rs1362045270 | ||||
| c.454T>C | Exon 7 | chr9:136131663 | chr9:133256276 | rs563480845 | |||||
| c.467C>T | p.Pro156Leu | Exon 7 | chr9:136131650 | chr9:133256263 | rs1053878 | ||||
| c.488C>T | p.Thr163Met | Exon 7 | chr9:136131629 | chr9:133256242 | rs55756402 | ||||
| c.496delA | Exon 7 | chr9:136131621 | chr9:133256234 | rs563704490 | |||||
| c.498C>T | Exon 7 | chr9:136131619 | chr9:133256232 | rs781927531 | |||||
| c.499G>T | p.Gly167Cys | Exon 7 | chr9:136131618 | chr9:133256231 | rs782815917 | ||||
| c.502C>T | p.Arg168Trp | Exon 7 | chr9:136131615 | chr9:133256228 | rs573234689 | ||||
| c.502C>G | p.Arg168Gly | Exon 7 | chr9:136131615 | chr9:133256228 | rs573234689 | ||||
| c.503G>T | p.Arg168Leu | Exon 7 | chr9:136131614 | chr9:133256227 | rs1350454707 | ||||
| c.505_507delCAG | p.Gln169del | Exon 7 | chr9:136131610 | chr9:133256223 | |||||
| c.523G>A | p.Val175Met | Exon 7 | chr9:136131594 | chr9:133256207 | rs555009598 | ||||
| c.526C>G | p.Arg176Gly | Exon 7 | chr9:136131591 | chr9:133256204 | rs7853989 | ||||
| c.527G>A | p.Arg176His | Exon 7 | chr9:136131590 | chr9:133256203 | rs56039827 | ||||
| c.529G>A | Exon 7 | chr9:136131588 | chr9:133256201 | rs55687199 | |||||
| c.538C>T | Exon 7 | chr9:136131579 | chr9:133256192 | rs1021634223 | |||||
| c.539G>C | p.Arg180Pro | Exon 7 | chr9:136131578 | chr9:133256191 | rs781806838 | ||||
| c.539G>A | p.Arg180His | Exon 7 | chr9:136131578 | chr9:133256191 | rs781806838 | ||||
| c.541T>C | p.Trp181Arg | Exon 7 | chr9:136131576 | chr9:133256189 | |||||
| c.542G>A | p.Trp181Ter | Exon 7 | chr9:136131575 | chr9:133256188 | rs55727303 | ||||
| c.543G>T | p.Trp181Cys | Exon 7 | chr9:136131574 | chr9:133256187 | |||||
| c.547G>A | p.Asp183Asn | Exon 7 | chr9:136131570 | chr9:133256183 | |||||
| c.548A>G | Exon 7 | chr9:136131569 | chr9:133256182 | ||||||
| c.550G>A | p.Val184Met | Exon 7 | chr9:136131567 | chr9:133256180 | rs781897037 | ||||
| c.556A>G | p.Met186Val | Exon 7 | chr9:136131561 | chr9:133256174 | rs782121240 | ||||
| c.558G>T | p.Met186Ile | Exon 7 | chr9:136131559 | chr9:133256172 | rs1377868774 | ||||
| c.559C>T | p.Arg187Cys | Exon 7 | chr9:136131558 | chr9:133256171 | rs866584466 | ||||
| c.563G>A | p.Arg188His | Exon 7 | chr9:136131554 | chr9:133256167 | rs782738668 | ||||
| c.565A>G | p.Met189Val | Exon 7 | chr9:136131552 | chr9:133256165 | rs782058388 | ||||
| c.575T>C | p.Ile192Thr | Exon 7 | chr9:136131542 | chr9:133256155 | |||||
| c.579T>C | Exon 7 | chr9:136131538 | chr9:133256151 | rs55764262 | |||||
| c.588C>G | p.Cys196Trp | Exon 7 | chr9:136131529 | chr9:133256142 | rs1239647466 | ||||
| c.592C>T | p.Arg198Trp | Exon 7 | chr9:136131525 | chr9:133256138 | rs1211406855 | ||||
| c.595C>T | Exon 7 | chr9:136131522 | chr9:133256135 | rs8176739 | |||||
| c.607G>A | p.Glu203Lys | Exon 7 | chr9:136131510 | chr9:133256123 | rs374698850 | ||||
| c.607G>C | p.Glu203Gln | Exon 7 | chr9:136131510 | chr9:133256123 | rs374698850 | ||||
| c.619C>G | p.Leu207Val | Exon 7 | chr9:136131498 | chr9:133256111 | rs782526505 | ||||
| c.634G>A | p.Val212Met | Exon 7 | chr9:136131483 | chr9:133256096 | rs376840879 | ||||
| c.635T>A | p.Val212Glu | Exon 7 | chr9:136131482 | chr9:133256095 | rs782776943 | ||||
| c.640A>G | p.Met214Val | Exon 7 | chr9:136131477 | chr9:133256090 | rs964984014 | ||||
| c.641T>G | p.Met214Arg | Exon 7 | chr9:136131476 | chr9:133256089 | rs1285446079 | ||||
| c.641T>C | p.Met214Thr | Exon 7 | chr9:136131476 | chr9:133256089 | rs1285446079 | ||||
| c.646T>A | p.Phe216Ile | Exon 7 | chr9:136131471 | chr9:133256084 | rs8176740 | ||||
| c.649C>T | Exon 7 | chr9:136131468 | chr9:133256081 | rs56408700 | |||||
| c.657C>T | Exon 7 | chr9:136131460 | chr9:133256073 | rs8176741 | |||||
| c.664G>A | p.Val222Met | Exon 7 | chr9:136131453 | chr9:133256066 | rs782445625 | ||||
| c.669G>T | p.Glu223Asp | Exon 7 | chr9:136131448 | chr9:133256061 | |||||
| c.681G>A | Exon 7 | chr9:136131436 | chr9:133256049 | rs8176742 | |||||
| c.687C>T | Exon 7 | chr9:136131430 | chr9:133256043 | rs56215404 | |||||
| c.688G>C | p.Gly230Arg | Exon 7 | chr9:136131429 | chr9:133256042 | rs1259797239 | ||||
| c.689G>A | p.Gly230Asp | Exon 7 | chr9:136131428 | chr9:133256041 | rs56116432 | ||||
| c.695T>C | Exon 7 | chr9:136131422 | chr9:133256035 | rs796755925 | |||||
| c.699C>A | p.His233Gln | Exon 7 | chr9:136131418 | chr9:133256031 | rs781796577 | ||||
| c.700C>T | p.Pro234Ser | Exon 7 | chr9:136131417 | chr9:133256030 | rs55722397 | ||||
| c.700C>G | Exon 7 | chr9:136131417 | chr9:133256030 | rs55722397 | |||||
| c.703G>A | p.Gly235Ser | Exon 7 | chr9:136131414 | chr9:133256027 | rs8176743 | ||||
| c.721C>T | p.Arg241Trp | Exon 7 | chr9:136131396 | chr9:133256009 | rs781957267 | ||||
| c.722G>A | p.Arg241Gln | Exon 7 | chr9:136131395 | chr9:133256008 | rs868656449 | ||||
| c.729C>T | Exon 7 | chr9:136131388 | chr9:133256001 | rs35494115 | |||||
| c.742C>T | p.Arg248Cys | Exon 7 | chr9:136131375 | chr9:133255988 | rs928305857 | ||||
| c.743G>C | p.Arg248Pro | Exon 7 | chr9:136131374 | chr9:133255987 | rs543029446 | ||||
| c.745C>T | p.Arg249Trp | Exon 7 | chr9:136131372 | chr9:133255985 | rs781881648 | ||||
| c.761C>T | p.Ala254Val | Exon 7 | chr9:136131356 | chr9:133255969 | rs1457148922 | ||||
| c.767T>C | p.Ile256Thr | Exon 7 | chr9:136131350 | chr9:133255963 | |||||
| c.768C>A | Exon 7 | chr9:136131349 | chr9:133255962 | rs8176744 | |||||
| c.771C>T | Exon 7 | chr9:136131346 | chr9:133255959 | rs8176745 | |||||
| c.778G>A | p.Glu260Lys | Exon 7 | chr9:136131339 | chr9:133255952 | rs782075362 | ||||
| c.784G>A | p.Asp262Asn | Exon 7 | chr9:136131333 | chr9:133255946 | rs1403489417 | ||||
| c.793T>C | p.Tyr265His | Exon 7 | chr9:136131324 | chr9:133255937 | |||||
| c.796C>A | p.Leu266Met | Exon 7 | chr9:136131321 | chr9:133255934 | rs8176746 | ||||
| c.802G>A | p.Gly268Arg | Exon 7 | chr9:136131315 | chr9:133255928 | rs41302905 | ||||
| c.803G>C | p.Gly268Ala | Exon 7 | chr9:136131314 | chr9:133255927 | rs8176747 | ||||
| c.804delG | p.Phe269Serfs*20 | Exon 7 | chr9:136131313 | chr9:133255926 | |||||
| c.804dupG | p.Phe269Valfs*124 | Exon 7 | chr9:136131313 | chr9:133255926 | |||||
| c.808T>A | p.Phe270Ile | Exon 7 | chr9:136131309 | chr9:133255922 | |||||
| c.815_816insG | p.Ser273Valfs*? | Exon 7 | chr9:136131301 | chr9:133255914 | rs782558267 | ||||
| c.820G>A | p.Val274Met | Exon 7 | chr9:136131297 | chr9:133255910 | |||||
| c.829G>A | p.Val277Met | Exon 7 | chr9:136131288 | chr9:133255901 | rs8176748 | ||||
| c.838C>T | p.Leu280Phe | Exon 7 | chr9:136131279 | chr9:133255892 | |||||
| c.860C>T | p.Ala287Val | Exon 7 | chr9:136131257 | chr9:133255870 | rs782524570 | ||||
| c.863T>G | Exon 7 | chr9:136131254 | chr9:133255867 | ||||||
| c.871G>A | p.Asp291Asn | Exon 7 | chr9:136131246 | chr9:133255859 | rs781789696 | ||||
| c.873C>G | Exon 7 | chr9:136131244 | chr9:133255857 | rs782818660 | |||||
| c.889G>A | p.Glu297Lys | Exon 7 | chr9:136131228 | chr9:133255841 | rs370138477 | ||||
| c.892G>T | p.Ala298Ser | Exon 7 | chr9:136131225 | chr9:133255838 | rs781948068 | ||||
| c.893C>T | p.Ala298Val | Exon 7 | chr9:136131224 | chr9:133255837 | |||||
| c.900G>C | p.Trp300Cys | Exon 7 | chr9:136131217 | chr9:133255830 | |||||
| c.905A>G | p.Asp302Gly | Exon 7 | chr9:136131212 | chr9:133255825 | |||||
| c.926A>G | Exon 7 | chr9:136131191 | chr9:133255804 | rs56346931 | |||||
| c.927C>A | p.Tyr309Ter | Exon 7 | chr9:136131190 | chr9:133255803 | rs782586438 | ||||
| c.930G>A | Exon 7 | chr9:136131187 | chr9:133255800 | rs8176749 | |||||
| c.938A>C | p.His313Pro | Exon 7 | chr9:136131179 | chr9:133255792 | |||||
| c.940A>G | p.Lys314Glu | Exon 7 | chr9:136131177 | chr9:133255790 | rs1459364624 | ||||
| c.952G>A | p.Val318Met | Exon 7 | chr9:136131165 | chr9:133255778 | rs781784520 | ||||
| c.965A>G | p.Glu322Gly | Exon 7 | chr9:136131152 | chr9:133255765 | rs934089484 | ||||
| c.976G>T | p.Asp326Tyr | Exon 7 | chr9:136131141 | chr9:133255754 | |||||
| c.996G>A | p.Trp332Ter | Exon 7 | chr9:136131121 | chr9:133255734 | rs782621375 | ||||
| c.1009A>G | p.Arg337Gly | Exon 7 | chr9:136131108 | chr9:133255721 | rs566015043 | ||||
| c.1036A>G | Exon 7 | chr9:136131081 | chr9:133255694 | rs1354627152 | |||||
| c.1037A>T | Exon 7 | chr9:136131080 | chr9:133255693 | ||||||
| c.1046_1048delAGG | Exon 7 | chr9:136131069 | chr9:133255682 | ||||||
| c.1054C>G | p.Arg352Gly | Exon 7 | chr9:136131063 | chr9:133255676 | rs56390333 | ||||
| c.1054C>T | p.Arg352Trp | Exon 7 | chr9:136131063 | chr9:133255676 | rs56390333 | ||||
| c.1055G>A | Exon 7 | chr9:136131062 | chr9:133255675 | rs1019994127 | |||||
| c.1061delC | p.Pro354Argfs*23 | Exon 7 | chr9:136131056 | chr9:133255669 | rs56392308 | ||||
| ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |||||||||||||||||||||||||||||||||||||||||
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| Chromosome: | chr9 | ||||||||||||||||||||||||||||||||||||||||
| Strand: | - | ||||||||||||||||||||||||||||||||||||||||
| Genomic ref.: | NG_006669.1 | ||||||||||||||||||||||||||||||||||||||||
| Transcript ref.: | NM_020469.2 | ||||||||||||||||||||||||||||||||||||||||
| Protein ref.: | NP_065202.2 | ||||||||||||||||||||||||||||||||||||||||
| Entrez GeneID: | 28 | ||||||||||||||||||||||||||||||||||||||||
| Uniprot ID: | P16442 | ||||||||||||||||||||||||||||||||||||||||
| Further links: | GTEx Portal, gnomAD | ||||||||||||||||||||||||||||||||||||||||
| hg19: |
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| hg38: |
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| NT sequence: | GGAGGCCGAGACCAGACGCGGAGCCATGGCCGAGGTGTTGCGGACGCTGGCCGGAAAACC AAAATGCCACGCACTTCGACCTATGATCCTTTTCCTAATAATGCTTGTCTTGGTCTTGTT TGGTTACGGGGTCCTAAGCCCCAGAAGTCTAATGCCAGGAAGCCTGGAACGGGGGTTCTG CATGGCTGTTAGGGAACCTGACCATCTGCAGCGCGTCTCGTTGCCAAGGATGGTCTACCC CCAGCCAAAGGTGCTGACACCGTGTAGGAAGGATGTCCTCGTGGTGACCCCTTGGCTGGC TCCCATTGTCTGGGAGGGCACATTCAACATCGACATCCTCAACGAGCAGTTCAGGCTCCA GAACACCACCATTGGGTTAACTGTGTTTGCCATCAAGAAATACGTGGCTTTCCTGAAGCT GTTCCTGGAGACGGCGGAGAAGCACTTCATGGTGGGCCACCGTGTCCACTACTATGTCTT CACCGACCAGCCGGCCGCGGTGCCCCGCGTGACGCTGGGGACCGGTCGGCAGCTGTCAGT GCTGGAGGTGCGCGCCTACAAGCGCTGGCAGGACGTGTCCATGCGCCGCATGGAGATGAT CAGTGACTTCTGCGAGCGGCGCTTCCTCAGCGAGGTGGATTACCTGGTGTGCGTGGACGT GGACATGGAGTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCGCTGTTCGGCACCCT GCACCCCGGCTTCTACGGAAGCAGCCGGGAGGCCTTCACCTACGAGCGCCGGCCCCAGTC CCAGGCCTACATCCCCAAGGACGAGGGCGATTTCTACTACCTGGGGGGGTTCTTCGGGGG GTCGGTGCAAGAGGTGCAGCGGCTCACCAGGGCCTGCCACCAGGCCATGATGGTCGACCA GGCCAACGGCATCGAGGCCGTGTGGCACGACGAGAGCCACCTGAACAAGTACCTGCTGCG CCACAAACCCACCAAGGTGCTCTCCCCCGAGTACTTGTGGGACCAGCAGCTGCTGGGCTG GCCCGCCGTCCTGAGGAAGCTGAGGTTCACTGCGGTGCCCAAGAACCACCAGGCGGTCCG GAACCCGTGAGCGGCTGCCAGGGGCTCTGGGAGGGCTGCCGGCAGCCCCGTCCCCCTCCC GCCCTTGGTTTTAGCAGAACGGGTAAACTCTGTTTCCTTTGTCCGTCCTGTTGTGAGTAA CTGAAGCCTAGGCCCCGTCCCCACCTCAAATCACACACACCCCCTCCCCACCACAGAGAC ACCATTACATACACAGACACACACAGAAAGACACACACAGACACAAAATCACACACACAC CCTCCCCGCCACAGAGACACCATTACATACACAGACACACACAGAAAGACACAGACACAA AATCACACACACACCCTCCCCGCCACAGAGACACACCATTACATACACAGACACGCAATC GCAGATACGCCCTTCCGGCCACAGAAACACACCATTACACACACATACACAGAAAGACAC ACACAGACACACAATCACACGCAGCCCCTCCCCGCCACAGAGACACACCATTACATACAC AGACACACACAGAAAGACAC |
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