GYPB Chromosome 4

Glycophorin B (MNS blood group)
1 variant 1 Health Risk

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What This Gene Does
Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Blood group antigens|CD molecules"
Locus Type
gene with protein product
Location
4q31.21
Ensembl
ENSG00000250361
Associated Conditions (2)
BLOOD GROUP
Ss
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS374811215 Health Risk association BLOOD GROUP, Ss, BLOOD GROUP
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