GATA1 Blood Group
GATA1 does not represent a blood group system, but a mutation in this gene is responsible for an X-linked form of Lutheran-mod phenotype, XS2.
Reference Info
Gene: GATA1
Allele: GATA1*01
Seq: NG_008846.2
(genomic), NM_002049.3 (transcript)
Entrez GeneID: 2623
Number of exons: 6
Allele: GATA1*01
Seq: NG_008846.2
(genomic), NM_002049.3 (transcript)
Entrez GeneID: 2623
Number of exons: 6
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | Common | GATA1*01 | ||||||||
| 2:Mod Alleles | XS2 Lu-mod | GATA1*BGM01 | c.1240T>C | Exon 6 | p.Ter414Argext*41 | chrX:48794162 |
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