ERMAP Chromosome 1
Erythroblast membrane associated protein (Scianna blood group)
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What This Gene Does
The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|Butyrophilins|V-set domain containing"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000164010
Associated Conditions (5)
SCIANNA BLOOD GROUP SYSTEM
SC:-1
-2
Antigen in Scianna blood group system
RADIN BLOOD GROUP ANTIGEN
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906265 | Health Risk | Pathogenic | SCIANNA BLOOD GROUP SYSTEM, SC:-1, -2 |
| RS56047316 | Trait | Affects | Antigen in Scianna blood group system, Antigen in Scianna blood group system |
| RS56136737 | Trait | Affects | RADIN BLOOD GROUP ANTIGEN, RADIN BLOOD GROUP ANTIGEN |