Product Details

SNP ID
rs17217716
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47403214 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GACATGGCGGTGCAGCCGAAGGAGA[C/T]GCTGCAGTTGGAGAGCGCGGCCGAG
Phenotype
MIM: 609309
Polymorphism
C/T, 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_000251.2 148 Missense Mutation ACG,ATG T8M NP_000242.1
NM_001258281.1 148 Intron NP_001245210.1
XM_005264332.3 148 Missense Mutation ACG,ATG T8M XP_005264389.2
XM_011532867.1 148 Missense Mutation ACG,ATG T8M XP_011531169.1

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