Product Details

SNP ID
rs77759052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43583115 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTCTACTGGCACAAGTTCGTGA[G/T]TCCCGTGGGAAAGCTAACCTCACCA
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_001291969.1 403 Missense Mutation AGT,ATT S31I NP_001278898.1
NM_001291970.1 403 Missense Mutation GAG,GAT E82D NP_001278899.1
NM_006502.2 403 Missense Mutation GAG,GAT E82D NP_006493.1
XM_005249186.3 403 Missense Mutation GAG,GAT E20D XP_005249243.1
XM_011514698.2 403 Missense Mutation AGT,ATT S31I XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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