Product Details

SNP ID
rs139366493
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12647532 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTCCAAGCGCAGCAGCACCATTT[C/T]GGGGCCCCAGCTGGCCAGCGTGAGC
Phenotype
MIM: 609458
Polymorphism
C/T, Transition 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 2386 Missense Mutation AAA,GAA K911E NP_000519.2
NM_001173498.1 2386 Missense Mutation AAA,GAA K910E NP_001166969.1
XM_005259913.1 2386 Missense Mutation AAA,GAA K912E XP_005259970.1
XM_017026818.1 2386 Missense Mutation AAA,GAA K544E XP_016882307.1

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