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IKMB: Blood Group DB

FORS > GBGT1


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.870C>T p.Gly290Gly Exon 7 chr9:None chr9:133153751 rs35902535
c.58C>T p.Leu20Phe Exon 2 chr9:136037742 chr9:133162355 rs2073924
c.363C>A p.Tyr121Ter Exon 7 chr9:136029645 chr9:133154258 rs35898523
c.887G>A p.Arg296Gln Exon 7 chr9:136029121 chr9:133153734 rs375748588

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Chromosome:chr9
Strand:-
Genomic ref.:NG_033868.1
Transcript ref.:NM_021996.5
Protein ref.: NP_001269558.1 NP_001269561.1 NP_001275501.1 NP_001275502.1 NP_068836.2
Entrez GeneID:26301
Uniprot ID:Q8N5D6
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
7 136028334 136039332 136028963 136037799
hg38:
ExonsStartEndCDS StartCDS End
7 133152947 133163914 133153576 133162412
Exon hg19 start hg19 end hg38 start hg38 end
1 136039140 136039301 133163753 133163914
2 136037728 136037919 133162341 133162532
3 136036853 136036919 133161466 133161532
4 136031401 136031452 133156014 133156065
5 136031287 136031323 133155900 133155936
6 136030564 136030699 133155177 133155312
7 136028334 136029648 133152947 133154261