Product Details

SNP ID

hCV88836482

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:5986967 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTACATCAACCTGAGAGGCTGACA[G/T]GTCCTGAGTATTTACTAACTTTTGA

Phenotype

MIM: 600259

Polymorphism

G/T, 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	1831	Missense Mutation	ATG,CTG	M600L	NP_000526.2
NM_001322003.1	1831	Missense Mutation	ATG,CTG	M465L	NP_001308932.1
NM_001322004.1	1831	Missense Mutation	ATG,CTG	M465L	NP_001308933.1
NM_001322005.1	1831	Missense Mutation	ATG,CTG	M465L	NP_001308934.1
NM_001322006.1	1831	Missense Mutation	ATG,CTG	M548L	NP_001308935.1
NM_001322007.1	1831	Missense Mutation	ATG,CTG	M494L	NP_001308936.1
NM_001322008.1	1831	Missense Mutation	ATG,CTG	M494L	NP_001308937.1
NM_001322009.1	1831	Missense Mutation	ATG,CTG	M465L	NP_001308938.1
NM_001322010.1	1831	Missense Mutation	ATG,CTG	M413L	NP_001308939.1
NM_001322011.1	1831	Missense Mutation	ATG,CTG	M289L	NP_001308940.1
NM_001322012.1	1831	Missense Mutation	ATG,CTG	M289L	NP_001308941.1
NM_001322013.1	1831	Missense Mutation	ATG,CTG	M409L	NP_001308942.1
NM_001322014.1	1831	Missense Mutation	ATG,CTG	M600L	NP_001308943.1
NM_001322015.1	1831	Missense Mutation	ATG,CTG	M497L	NP_001308944.1

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