Product Details

SNP ID
rs63750770
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:5987032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAAGAATTTCTTCTTTTTTAAAA[A/C]GCTTTGTGTTTGGGGTTGCGAGATT
Phenotype
MIM: 600259
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PMS2 PubMed Links

Gene Details

Gene
PMS2
Gene Name
PMS1 homolog 2, mismatch repair system component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000535.6 1766 Missense Mutation NP_000526.2
NM_001322003.1 1766 Missense Mutation NP_001308932.1
NM_001322004.1 1766 Missense Mutation NP_001308933.1
NM_001322005.1 1766 Missense Mutation NP_001308934.1
NM_001322006.1 1766 Missense Mutation NP_001308935.1
NM_001322007.1 1766 Missense Mutation NP_001308936.1
NM_001322008.1 1766 Missense Mutation NP_001308937.1
NM_001322009.1 1766 Missense Mutation NP_001308938.1
NM_001322010.1 1766 Missense Mutation NP_001308939.1
NM_001322011.1 1766 Missense Mutation NP_001308940.1
NM_001322012.1 1766 Missense Mutation NP_001308941.1
NM_001322013.1 1766 Missense Mutation NP_001308942.1
NM_001322014.1 1766 Missense Mutation NP_001308943.1
NM_001322015.1 1766 Missense Mutation NP_001308944.1
XM_006715744.3 1766 Intron XP_006715807.1
XM_017012342.1 1766 Missense Mutation XP_016867831.1

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