Product Details

SNP ID
rs63750664
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47783292 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAAGTCTCCGGCGCTGAGTGATG[C/T]CAACAAGGCCTCGGCCAGGGCCTCA
Phenotype
MIM: 600678
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MSH6 PubMed Links

Gene Details

Gene
MSH6
Gene Name
mutS homolog 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000179.2 211 Missense Mutation GCC,GTC A20V NP_000170.1
NM_001281492.1 211 Missense Mutation GCC,GTC A20V NP_001268421.1
NM_001281493.1 211 UTR 5 NP_001268422.1
NM_001281494.1 211 Intron NP_001268423.1
XM_011532798.1 211 Intron XP_011531100.1
XM_011532799.1 211 Intron XP_011531101.1

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