Product Details

SNP ID
rs112203631
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43582433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAATAAACCTTGTGCAGTTGTACA[A/G]TACAAATCATGGAAGGGTGGTGGGT
Phenotype
MIM: 603968 MIM: 607845
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
POLH PubMed Links

Gene Details

Gene
POLH
Gene Name
DNA polymerase eta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291969.1 418 Intron NP_001278898.1
NM_001291970.1 418 Silent Mutation CAA,CAG Q38Q NP_001278899.1
NM_006502.2 418 Silent Mutation CAA,CAG Q38Q NP_006493.1
XM_005249186.3 418 Intron XP_005249243.1
XM_011514698.2 418 UTR 5 XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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