Product Details

SNP ID
rs140281123
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12648333 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAGGTGGCGCCCTCGCACCCACG[C/G]CCCCGACCCGTTCTCCATTAGTGGC
Phenotype
MIM: 609458
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MAN2B1 PubMed Links

Gene Details

Gene
MAN2B1
Gene Name
mannosidase alpha class 2B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000528.3 2161 Missense Mutation CCG,GCG P836A NP_000519.2
NM_001173498.1 2161 Missense Mutation CCG,GCG P835A NP_001166969.1
XM_005259913.1 2161 Missense Mutation CCG,GCG P837A XP_005259970.1
XM_017026818.1 2161 Missense Mutation CCG,GCG P469A XP_016882307.1

View Full Product Details