Product Details

SNP ID
rs34000915
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49650348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACAAGTAGATCGGGCACAGGAT[A/G]CACTCTCAAAGCATAGTCATATGCC
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 1591 Missense Mutation CAT,TAT H446Y NP_001184259.1
NM_001197331.1 1591 Missense Mutation CAT,TAT H472Y NP_001184260.1
NM_002692.3 1591 Missense Mutation CAT,TAT H472Y NP_002683.2
XM_011536842.2 1591 Missense Mutation CAT,TAT H446Y XP_011535144.1
XM_011536843.2 1591 Missense Mutation CAT,TAT H395Y XP_011535145.1
XM_011536844.1 1591 Intron XP_011535146.1
XM_017021374.1 1591 Missense Mutation CAT,TAT H472Y XP_016876863.1
XM_017021375.1 1591 Missense Mutation CAT,TAT H395Y XP_016876864.1

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