P1PK > A4GALT
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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 | |||||||||||||||||||||
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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: |
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hg38: |
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