Product Details

SNP ID

rs63750476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:5986997 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGTATTTACTAACTTTTGACAAA[T/G]GTCAGAACTGGAAAGAATTTCTTCT

Phenotype

MIM: 600259

Polymorphism

T/G, 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	1801	Missense Mutation	ATT,CTT	I590L	NP_000526.2
NM_001322003.1	1801	Missense Mutation	ATT,CTT	I455L	NP_001308932.1
NM_001322004.1	1801	Missense Mutation	ATT,CTT	I455L	NP_001308933.1
NM_001322005.1	1801	Missense Mutation	ATT,CTT	I455L	NP_001308934.1
NM_001322006.1	1801	Missense Mutation	ATT,CTT	I538L	NP_001308935.1
NM_001322007.1	1801	Missense Mutation	ATT,CTT	I484L	NP_001308936.1
NM_001322008.1	1801	Missense Mutation	ATT,CTT	I484L	NP_001308937.1
NM_001322009.1	1801	Missense Mutation	ATT,CTT	I455L	NP_001308938.1
NM_001322010.1	1801	Missense Mutation	ATT,CTT	I403L	NP_001308939.1
NM_001322011.1	1801	Missense Mutation	ATT,CTT	I279L	NP_001308940.1
NM_001322012.1	1801	Missense Mutation	ATT,CTT	I279L	NP_001308941.1
NM_001322013.1	1801	Missense Mutation	ATT,CTT	I399L	NP_001308942.1
NM_001322014.1	1801	Missense Mutation	ATT,CTT	I590L	NP_001308943.1
NM_001322015.1	1801	Missense Mutation	ATT,CTT	I487L	NP_001308944.1
XM_006715744.3	1801	Intron			XP_006715807.1
XM_017012342.1	1801	Missense Mutation	ATT,CTT	I279L	XP_016867831.1

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