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IKMB: Blood Group DB

P1PK > A4GALT


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.-188+2252C>T Intron None chr22:43114551 chr22:42718545 rs8138197
c.42C>T Exon 2a chr22:43089916 chr22:42693910
c.68dupT p.Phe24Valfs*31 Exon 3 chr22:43089890 chr22:42693884
c.109A>G p.Met37Val Exon 3 chr22:43089849 chr22:42693843 rs11541159
c.122T>G p.Gly28Trp Exon 3 chr22:43089836 chr22:42693830
c.201dupC p.Thr68Hisfs*215 Exon 3 chr22:43089757 chr22:42693751 rs775626055
c.241_243delTTC p.Phe81del Exon 3 chr22:43089715 chr22:42693709 rs1422091450
c.287G>A p.Cys96Tyr Exon 3 chr22:43089671 chr22:42693665 rs762949801
c.290C>T p.Ser97Leu Exon 3 chr22:43089668 chr22:42693662 rs146544312
c.299C>T p.Ser100Leu Exon 3 chr22:43089659 chr22:42693653 rs776304817
c.301delG p.Ala101Profs*13 Exon 3 chr22:43089657 chr22:42693651 rs1189809232
c.367T>C p.Ser123Pro Exon 3 chr22:43089591 chr22:42693585 rs114722809
c.388dupA p.Ile130Asnfs*153 Exon 3 chr22:43089570 chr22:42693564
c.418C>T p.Gln140* Exon 3 chr22:43089540 chr22:42693534 rs1418757198
c.418_428delinsTGGACCTGCTGGACCTGCTGGACCTGCTGGAACA p.Gln140Trpfs*73 Exon 3 chr22:43089530 chr22:42693524
c.473G>A p.Trp158* Exon 3 chr22:43089485 chr22:42693479
c.480_495dupGGCCGTGCAGGGGCGC p.Trp166Glyfs*122 Exon 3 chr22:43089463 chr22:42693457
c.470_496delinsCGTACCCGAC p.Asp157Alafs*120 Exon 3 chr22:43089462 chr22:42693456
c.498G>A p.Trp166* Exon 3 chr22:43089460 chr22:42693454 rs1322916904
c.504dupC p.Tyr169Leufs*114 Exon 3 chr22:43089454 chr22:42693448 rs1211567242
c.547_548delAT p.Met183Valfs*99 Exon 3 chr22:43089410 chr22:42693404 rs771507737
c.548T>A p.Met183Lys Exon 3 chr22:43089410 chr22:42693404 rs74315453
c.559G>C p.Gly187Arg Exon 3 chr22:43089399 chr22:42693393 rs749195557
c.560G>A p.Gly187Arg Exon 3 chr22:43089398 chr22:42693392 rs28940572
c.631C>G p.Gln211Glu Exon 3 chr22:43089327 chr22:42693321 rs397514502
c.656C>T p.Ala219Val Exon 3 chr22:43089302 chr22:42693296 rs374580731
c.657delG p.Phe220Serfs*130 Exon 3 chr22:43089301 chr22:42693295 rs1421501077
c.732dupG p.Ile245Aspfs*38 Exon 3 chr22:43089226 chr22:42693220
c.751C>T p.Pro251Ser Exon 3 chr22:43089207 chr22:42693201
c.752C>T p.Pro251Leu Exon 3 chr22:43089206 chr22:42693200 rs28940571
c.769delG p.Val257Serfs*93 Exon 3 chr22:43089189 chr22:42693183 rs772764072
c.783G>A p.Trp261* Exon 3 chr22:43089175 chr22:42693169 rs74315454
c.902delC p.Glu302Argfs*48 Exon 3 chr22:43089056 chr22:42693050 rs1309186298
c.903C>G p.Pro301Pro Exon 3 chr22:43089055 chr22:42693049 rs6002904
c.914C>T p.Pro305Pro Exon 3 chr22:43089044 chr22:42693038 rs138153636
c.987G>A p.Thr329Thr Exon 3 chr22:43088971 chr22:42692965 rs9623659
c.972_997del p.Arg325Alafs*113 Exon 3 chr22:43088961 chr22:42692955 rs778387354
c.1029dupC p.Thr344Hisfs*103 Exon 3 chr22:43088929 chr22:42692923 rs387906280

alpha 1,4-galactosyltransferase
Chromosome:chr22
Strand:-
Genomic ref.:NG_007495.1
Transcript ref.:NM_017436.4
Protein ref.: NP_001304967.1 NP_059132.1 XP_005261701.1 XP_005261703.1 XP_005261704.1 XP_005261705.1 XP_006724328.1 XP_006724329.1 XP_011528535.1 XP_016884320.1
Entrez GeneID:53947
Uniprot ID:Q9NPC4
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
3 43088120 43116916 43088895 43089957
hg38:
ExonsStartEndCDS StartCDS End
3 42692120 42720870 42692889 42693951
Exon hg19 start hg19 end hg38 start hg38 end
1 43116802 43116876 42720796 42720870
2 43091496 43091637 42695490 42695631
3 43088126 43090003 42692120 42693997