Product Details

SNP ID

rs141275247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:36989845 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACTGGCACAACTTTGGTTTTTA[A/G]GCTCTTATGCCATTTATTTTAATTG

Phenotype

MIM: 607911 MIM: 120436

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPM2AIP1 PubMed Links

Gene Details

Gene

EPM2AIP1

Gene Name

EPM2A interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014805.3	3460	UTR 3			NP_055620.1

Gene

MLH1

Gene Name

mutL homolog 1

There are no transcripts associated with this gene.

View Full Product Details