Product Details

SNP ID

rs63750951

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:47403372 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGCCCGGGAGGTGTTCAAGACC[C/T]AGGGGGTGATCAAGTACATGGGGCC

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	306	Nonsense Mutation	CAG,TAG	Q61*	NP_000242.1
NM_001258281.1	306	UTR 5			NP_001245210.1
XM_005264332.3	306	Nonsense Mutation	CAG,TAG	Q61*	XP_005264389.2
XM_011532867.1	306	Nonsense Mutation	CAG,TAG	Q61*	XP_011531169.1

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