VARIANT: 124872v2
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Entry
124872v2 Variant
Name
B4GALNT2 Sd(a-) allele
Gene
B4GALNT2
beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [KO:
K09655
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
polymorphism
OmimVar:
111730
Network
nt06035
Blood group carbohydrate antigen biosynthesis
Reference
PMID:
31367682
Authors
Stenfelt L, Hellberg A, Moller M, Thornton N, Larson G, Olsson ML
Title
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.
Journal
Biochem Biophys Rep 19:100659 (2019)
DOI:
10.1016/j.bbrep.2019.100659
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