Product Details

SNP ID
rs113074920
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43583110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGATCTTCTACTGGCACAAGTT[C/T]GTGAGTCCCGTGGGAAAGCTAACCT
Phenotype
MIM: 603968 MIM: 607845
Polymorphism
C/T, 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_001291969.1 398 Silent Mutation TTC,TTT F29F NP_001278898.1
NM_001291970.1 398 Missense Mutation CGT,TGT R81C NP_001278899.1
NM_006502.2 398 Missense Mutation CGT,TGT R81C NP_006493.1
XM_005249186.3 398 Missense Mutation CGT,TGT R19C XP_005249243.1
XM_011514698.2 398 Silent Mutation TTC,TTT F29F XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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