Product Details

SNP ID
rs142322471
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49650273 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTAACTACATTCTTACAGGGTTTA[C/T]GCAGAGGCATTCGGTATTTGTCGTA
Phenotype
MIM: 602670
Polymorphism
C/T, 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 1666 Missense Mutation ATA,GTA I471V NP_001184259.1
NM_001197331.1 1666 Missense Mutation ATA,GTA I497V NP_001184260.1
NM_002692.3 1666 Missense Mutation ATA,GTA I497V NP_002683.2
XM_011536842.2 1666 Missense Mutation ATA,GTA I471V XP_011535144.1
XM_011536843.2 1666 Missense Mutation ATA,GTA I420V XP_011535145.1
XM_011536844.1 1666 Intron XP_011535146.1
XM_017021374.1 1666 Missense Mutation ATA,GTA I497V XP_016876863.1
XM_017021375.1 1666 Missense Mutation ATA,GTA I420V XP_016876864.1

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