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IKMB: Blood Group DB

H > FUT1


Genetic changes
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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
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:
ExonsStartEndCDS StartCDS End
4 49251267 49258647 49253440 49254538
hg38:
ExonsStartEndCDS StartCDS End
4 48748010 48755358 48750183 48751281
Exon hg19 start hg19 end hg38 start hg38 end
1 49258546 49258615 48755289 48755358
2 49256581 49256820 48753324 48753563
3 49255746 49256379 48752489 48753122
4 49251267 49254540 48748010 48751283