Product Details

SNP ID
rs63750466
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47403195 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAGGTGAGGAGGTTTCGACATG[A/G]CGGTGCAGCCGAAGGAGACGCTGCA
Phenotype
MIM: 609309
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MSH2 PubMed Links

Gene Details

Gene
MSH2
Gene Name
mutS homolog 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000251.2 129 Missense Mutation ACG,GCG T2A NP_000242.1
NM_001258281.1 129 Intron NP_001245210.1
XM_005264332.3 129 Missense Mutation ACG,GCG T2A XP_005264389.2
XM_011532867.1 129 Missense Mutation ACG,GCG T2A XP_011531169.1

View Full Product Details