Product Details

SNP ID
rs45515094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49647317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTATCTTCTACTGTCTTATTAGAA[A/G]GATAAAAAACTTTGAATGAAAATCC
Phenotype
MIM: 602670
Polymorphism
A/G, Transition 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 1718 Missense Mutation CCT,CTT P488L NP_001184259.1
NM_001197331.1 1718 Intron NP_001184260.1
NM_002692.3 1718 Missense Mutation CCT,CTT P514L NP_002683.2
XM_011536842.2 1718 Missense Mutation CCT,CTT P488L XP_011535144.1
XM_011536843.2 1718 Missense Mutation CCT,CTT P437L XP_011535145.1
XM_011536844.1 1718 Intron XP_011535146.1
XM_017021374.1 1718 Missense Mutation CCT,CTT P514L XP_016876863.1
XM_017021375.1 1718 Missense Mutation CCT,CTT P437L XP_016876864.1

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