H > FUT1
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nt change | aa change | Location | hg19 | hg38 | rsNum | ||||
c.13_19dup | p.Arg7Glnfs*63 | Exon 4 | chr19:49254520 | chr19:48751263 | |||||
c.35C>T | p.Ala12Val | Exon 4 | chr19:49254504 | chr19:48751247 | rs2071699 | ||||
c.235G>C | p.Gly79Arg | Exon 4 | chr19:49254304 | chr19:48751047 | rs1399735219 | ||||
c.269G>T | p.Gly90Val | Exon 4 | chr19:49254270 | chr19:48751013 | rs897829842 | ||||
c.288T>A | p.Tyr96Ter | Exon 4 | chr19:49254251 | chr19:48750994 | |||||
c.293C>T | p.Thr98Met | Exon 4 | chr19:49254246 | chr19:48750989 | rs1469074926 | ||||
c.328G>A | p.Ala110Thr | Exon 4 | chr19:49254211 | chr19:48750954 | rs56342683 | ||||
c.349C>T | p.His117Tyr | Exon 4 | chr19:49254190 | chr19:48750933 | rs150074056 | ||||
c.371T>G | p.Phe124Cys | Exon 4 | chr19:49254168 | chr19:48750911 | rs529462057 | ||||
c.422G>A | p.Trp141Ter | Exon 4 | chr19:49254117 | chr19:48750860 | rs749165173 | ||||
c.423G>A | p.Trp141Ter | Exon 4 | chr19:49254116 | chr19:48750859 | |||||
c.424C>T | p.Arg142Trp | Exon 4 | chr19:49254115 | chr19:48750858 | rs772921327 | ||||
c.442G>T | p.Asp148Tyr | Exon 4 | chr19:49254097 | chr19:48750840 | rs747442925 | ||||
c.454delG | p.Glu152Argfs*6 | Exon 4 | chr19:49254085 | chr19:48750828 | |||||
c.460T>C | p.Tyr154His | Exon 4 | chr19:49254079 | chr19:48750822 | rs757349699 | ||||
c.461A>G | p.Tyr154Cys | Exon 4 | chr19:49254078 | chr19:48750821 | |||||
c.462C>A | p.Tyr154Ter | Exon 4 | chr19:49254077 | chr19:48750820 | rs753874356 | ||||
c.491T>A | p.Leu164His | Exon 4 | chr19:49254048 | chr19:48750791 | rs104894687 | ||||
c.513G>C | p.Trp171Cys | Exon 4 | chr19:49254026 | chr19:48750769 | |||||
c.522C>A | p.Phe174Leu | Exon 4 | chr19:49254017 | chr19:48750760 | rs747696745 | ||||
c.538C>T | p.Gln180Ter | Exon 4 | chr19:49254001 | chr19:48750744 | rs746629771 | ||||
c.545G>A | p.Arg182His | Exon 4 | chr19:49253994 | chr19:48750737 | rs1284994775 | ||||
c.547_548delAG | Exon 4 | chr19:49253991 | chr19:48750734 | ||||||
c.551_552delAG | p.Glu184Valfs*85 | Exon 4 | chr19:49253987 | chr19:48750730 | |||||
c.586C>T | p.Gln196Ter | Exon 4 | chr19:49253953 | chr19:48750696 | |||||
c.649G>T | p.Val217Phe | Exon 4 | chr19:49253890 | chr19:48750633 | rs541722036 | ||||
c.655G>C | p.Val219Leu | Exon 4 | chr19:49253884 | chr19:48750627 | |||||
c.658C>T | p.Arg220Cys | Exon 4 | chr19:49253881 | chr19:48750624 | rs574691621 | ||||
c.659G>A | p.Arg220His | Exon 4 | chr19:49253880 | chr19:48750623 | rs1229284545 | ||||
c.661C>T | p.Arg221Cys | Exon 4 | chr19:49253878 | chr19:48750621 | rs1452890889 | ||||
c.682A>G | p.Met228Val | Exon 4 | chr19:49253857 | chr19:48750600 | |||||
c.684G>A | p.Met228Ile | Exon 4 | chr19:49253855 | chr19:48750598 | |||||
c.689A>C | p.Gln230Pro | Exon 4 | chr19:49253850 | chr19:48750593 | rs1445220556 | ||||
c.694T>C | p.Trp232Arg | Exon 4 | chr19:49253845 | chr19:48750588 | |||||
c.695G>A | p.Trp232Ter | Exon 4 | chr19:49253844 | chr19:48750587 | |||||
c.710delG | p.Gly237Alafs*43 | Exon 4 | chr19:49253829 | chr19:48750572 | |||||
c.721T>C | p.Tyr241His | Exon 4 | chr19:49253818 | chr19:48750561 | rs765114567 | ||||
c.725T>G | p.Leu242Arg | Exon 4 | chr19:49253814 | chr19:48750557 | rs28934588 | ||||
c.748C>T | p.Arg250Trp | Exon 4 | chr19:49253791 | chr19:48750534 | |||||
c.768delC | p.Val257Phefs*23 | Exon 4 | chr19:49253771 | chr19:48750514 | rs749593829 | ||||
c.776T>A | p.Val259Glu | Exon 4 | chr19:49253763 | chr19:48750506 | |||||
c.785G>A | Exon 4 | chr19:49253754 | chr19:48750497 | ||||||
c.786C>A | p.Ser262Lys | Exon 4 | chr19:49253753 | chr19:48750496 | |||||
c.791_792insG | p.Met265Hisfs*5 | Exon 4 | chr19:49253747 | chr19:48750490 | |||||
c.801G>C | p.Trp267Cys | Exon 4 | chr19:49253738 | chr19:48750481 | |||||
c.801G>T | p.Trp267Cys | Exon 4 | chr19:49253738 | chr19:48750481 | |||||
c.826C>T | p.Gln276Ter | Exon 4 | chr19:49253713 | chr19:48750456 | rs104894688 | ||||
c.832G>A | p.Asp278Asn | Exon 4 | chr19:49253707 | chr19:48750450 | |||||
c.881_882delTT | p.Phe294Cysfs*40 | Exon 4 | chr19:49253657 | chr19:48750400 | rs777455020 | ||||
c.896A>C | p.Gln299Pro | Exon 4 | chr19:49253643 | chr19:48750386 | |||||
c.903_904insAAC | p.Asn301_His302insAsn | Exon 4 | chr19:49253635 | chr19:48750378 | |||||
c.917C>T | p.Thr306Ile | Exon 4 | chr19:49253622 | chr19:48750365 | |||||
c.944C>T | p.Ala315Val | Exon 4 | chr19:49253595 | chr19:48750338 | |||||
c.948C>G | p.Tyr316Ter | Exon 4 | chr19:49253591 | chr19:48750334 | rs104894686 | ||||
c.958G>A | p.Gly320Arg | Exon 4 | chr19:49253581 | chr19:48750324 | rs762020231 | ||||
c.980A>C | p.Asn327Thr | Exon 4 | chr19:49253559 | chr19:48750302 | rs777291875 | ||||
c.990delG | p.Pro331Glnfs*6 | Exon 4 | chr19:49253549 | chr19:48750292 | |||||
c.991C>A | p.Pro331Thr | Exon 4 | chr19:49253548 | chr19:48750291 | rs1381389919 | ||||
c.1042G>A | p.Glu348Lys | Exon 4 | chr19:49253497 | chr19:48750240 | rs764739319 | ||||
c.1047G>C | p.Trp349Cys | Exon 4 | chr19:49253492 | chr19:48750235 | rs1438752561 |
fucosyltransferase 1 | ||||||||||||||||||||||||||
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Chromosome: | chr19 | |||||||||||||||||||||||||
Strand: | - | |||||||||||||||||||||||||
Genomic ref.: | NG_007510.1 | |||||||||||||||||||||||||
Transcript ref.: | NM_000148.3 | |||||||||||||||||||||||||
Protein ref.: | NP_000139.1 NP_001316806.1 XP_016882042.1 | |||||||||||||||||||||||||
Entrez GeneID: | 2523 | |||||||||||||||||||||||||
Uniprot ID: | P19526 | |||||||||||||||||||||||||
Further links: | GTEx Portal, gnomAD | |||||||||||||||||||||||||
hg19: |
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hg38: |
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