Product Details

SNP ID
rs61981149
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49650359 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCGGGCACAGGATACACTCTCAAA[G/T]CATAGTCATATGCCCAATACACTGG
Phenotype
MIM: 602670
Polymorphism
G/T, 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 1580 Missense Mutation GAT,GCT D442A NP_001184259.1
NM_001197331.1 1580 Missense Mutation GAT,GCT D468A NP_001184260.1
NM_002692.3 1580 Missense Mutation GAT,GCT D468A NP_002683.2
XM_011536842.2 1580 Missense Mutation GAT,GCT D442A XP_011535144.1
XM_011536843.2 1580 Missense Mutation GAT,GCT D391A XP_011535145.1
XM_011536844.1 1580 Intron XP_011535146.1
XM_017021374.1 1580 Missense Mutation GAT,GCT D468A XP_016876863.1
XM_017021375.1 1580 Missense Mutation GAT,GCT D391A XP_016876864.1

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