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GYPB

From SNPedia

is agene
is mentioned by
Full nameglycophorin B (MNS blood group)
EntrezGene2994
PheGenI2994
VariationViewer2994
ClinVarGYPB
dbSNP2994
SADR2994
HugeNav2994
wikipediaGYPB
googleGYPB
gopubmedGYPB
EVSGYPB
HEFalMpGYPB
MyGene2GYPB
23andMeGYPB
UniProtP06028
EnsemblENSG00000250361
OMIM111740
# SNPs2
 Max MagnitudeChromosome positionSummary
rs18005820144,119,686
rs76833651143,999,443

The GYPB gene encodes the protein Glycophorin B, a component of the MNS blood group. The GYPB gene consists of five exons that span more than 58 kbp.

The GYPB gene has two codominant alleles ('C' and 'c') called MNS3 and MNS4, which produce the S antigen and the s antigen, respectively, differing in one amino acid. The MNS3 allele encodes a methionine at residue 29, whereas the MNS4 allele encodes a threonine at this position.

The SNP that assays the GYPB gene S/s status is rs7683365. As represented on the forward (plus) strand, the rs7683365(A) allele determines the methionine and thus the S antigen, while the rs7683365(G) leads to the threonine and therefore the s antigen.[PMID 21257350OA-icon.png]