Product Details

SNP ID
rs201304080
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:117368420 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGATGTGTTAATTCCACATGTAGA[C/T]GCCGGTAAAGGGGCTAAAAACCCCG
Phenotype
MIM: 604345
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAN1A2 PubMed Links

Gene Details

Gene
MAN1A2
Gene Name
mannosidase alpha class 1A member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006699.3 966 Silent Mutation GAC,GAT D79D NP_006690.1
XM_006710302.2 966 Silent Mutation GAC,GAT D79D XP_006710365.1
XM_011540536.2 966 Silent Mutation GAC,GAT D79D XP_011538838.1
XM_017000115.1 966 Silent Mutation GAC,GAT D79D XP_016855604.1

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