Product Details

SNP ID
rs372613817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43583101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTTATGTCCAGATCTTCTACTG[G/A]CACAAGTTCGTGAGTCCCGTGGGAA
Phenotype
MIM: 603968 MIM: 607845
Polymorphism
G/A, 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_001291969.1 389 Nonsense Mutation TGA,TGG *26W NP_001278898.1
NM_001291970.1 389 Missense Mutation ACA,GCA T78A NP_001278899.1
NM_006502.2 389 Missense Mutation ACA,GCA T78A NP_006493.1
XM_005249186.3 389 Missense Mutation ACA,GCA T16A XP_005249243.1
XM_011514698.2 389 Nonsense Mutation TGA,TGG *26W XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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