Product Details

SNP ID
rs149157567
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49647325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACTGTCTTATTAGAAGGATAAAA[A/C]ACTTTGAATGAAAATCCACTTCTTG
Phenotype
MIM: 602670
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
POLE2 PubMed Links

Gene Details

Gene
POLE2
Gene Name
DNA polymerase epsilon 2, accessory subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197330.1 1710 Silent Mutation GTG,GTT V485V NP_001184259.1
NM_001197331.1 1710 Intron NP_001184260.1
NM_002692.3 1710 Silent Mutation GTG,GTT V511V NP_002683.2
XM_011536842.2 1710 Silent Mutation GTG,GTT V485V XP_011535144.1
XM_011536843.2 1710 Silent Mutation GTG,GTT V434V XP_011535145.1
XM_011536844.1 1710 Intron XP_011535146.1
XM_017021374.1 1710 Silent Mutation GTG,GTT V511V XP_016876863.1
XM_017021375.1 1710 Silent Mutation GTG,GTT V434V XP_016876864.1

View Full Product Details