Product Details

SNP ID
rs63750615
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47403333 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGACTTCTATACGGCGCACGGC[G/T]AGGACGCGCTGCTGGCCGCCCGGGA
Phenotype
MIM: 609309
Polymorphism
G/T, Transversion 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_000251.2 267 Nonsense Mutation GAG,TAG E48* NP_000242.1
NM_001258281.1 267 Intron NP_001245210.1
XM_005264332.3 267 Nonsense Mutation GAG,TAG E48* XP_005264389.2
XM_011532867.1 267 Nonsense Mutation GAG,TAG E48* XP_011531169.1

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