Product Details

SNP ID
rs149295738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43583079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATGTGGGCAGATGATGCTAAGAA[G/T]TTATGTCCAGATCTTCTACTGGCAC
Phenotype
MIM: 603968 MIM: 607845
Polymorphism
G/T, Transversion 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_001291969.1 367 Missense Mutation AGT,ATT S19I NP_001278898.1
NM_001291970.1 367 Missense Mutation AAG,AAT K70N NP_001278899.1
NM_006502.2 367 Missense Mutation AAG,AAT K70N NP_006493.1
XM_005249186.3 367 Missense Mutation AAG,AAT K8N XP_005249243.1
XM_011514698.2 367 Missense Mutation AGT,ATT S19I XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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