Product Details

SNP ID
rs200781916
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:132690316 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCCCAGATGATTGAGAAGAAGC[A/G]GAAAAAAGAAAACTCTAGAAGTCTG
Phenotype
MIM: 174762
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
POLE PubMed Links

Gene Details

Gene
POLE
Gene Name
DNA polymerase epsilon, catalytic subunit
There are no transcripts associated with this gene.

Gene
PXMP2
Gene Name
peroxisomal membrane protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018663.2 241 Missense Mutation CAG,CGG Q59R NP_061133.1

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