Product Details

SNP ID
rs150515238
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:5989903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAACTGCCAACAAAAGCTTTTC[C/T]TCTTGTAGCAAAATTTGCCTTTTAT
Phenotype
MIM: 600259
Polymorphism
C/T, Transition 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 1074 Silent Mutation NP_000526.2
NM_001322003.1 1074 Silent Mutation NP_001308932.1
NM_001322004.1 1074 Silent Mutation NP_001308933.1
NM_001322005.1 1074 Silent Mutation NP_001308934.1
NM_001322006.1 1074 Intron NP_001308935.1
NM_001322007.1 1074 Silent Mutation NP_001308936.1
NM_001322008.1 1074 Silent Mutation NP_001308937.1
NM_001322009.1 1074 Silent Mutation NP_001308938.1
NM_001322010.1 1074 Intron NP_001308939.1
NM_001322011.1 1074 Silent Mutation NP_001308940.1
NM_001322012.1 1074 Silent Mutation NP_001308941.1
NM_001322013.1 1074 Silent Mutation NP_001308942.1
NM_001322014.1 1074 Silent Mutation NP_001308943.1
NM_001322015.1 1074 Silent Mutation NP_001308944.1
XM_006715744.3 1074 Intron XP_006715807.1
XM_017012342.1 1074 Missense Mutation XP_016867831.1

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