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IKMB: Blood Group DB

GATA1 > GATA1

Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.1240T>C p.Ter414Argext*41 Exon 6 chrX:None chrX:48794162 rs587776456

GATA binding protein 1
Chromosome:chrX
Strand:+
Genomic ref.:NG_008846.2
Transcript ref.:NM_002049.3
Protein ref.: NP_002040.1
Entrez GeneID:2623
Uniprot ID:P15976
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
6 48644981 48652717 48649516 48652571
hg38:
ExonsStartEndCDS StartCDS End
6 48786589 48794310 48791109 48794164
Exon hg19 start hg19 end hg38 start hg38 end
1 48644997 48645053 48786589 48786645
2 48649497 48649736 48791090 48791329
3 48650250 48650628 48791843 48792221
4 48650729 48650875 48792322 48792468
5 48651578 48651704 48793171 48793297
6 48652199 48652717 48793792 48794310