Product Details

SNP ID
rs56047627
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49647295 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTGTCTGTGCACACACTTACCT[A/G]TCTTCTACTGTCTTATTAGAAGGAT
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 1740 Silent Mutation GAC,GAT D495D NP_001184259.1
NM_001197331.1 1740 Intron NP_001184260.1
NM_002692.3 1740 Silent Mutation GAC,GAT D521D NP_002683.2
XM_011536842.2 1740 Silent Mutation GAC,GAT D495D XP_011535144.1
XM_011536843.2 1740 Silent Mutation GAC,GAT D444D XP_011535145.1
XM_011536844.1 1740 Intron XP_011535146.1
XM_017021374.1 1740 Silent Mutation GAC,GAT D521D XP_016876863.1
XM_017021375.1 1740 Silent Mutation GAC,GAT D444D XP_016876864.1

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