Product Details

SNP ID
rs199840329
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43583098 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAGAAGTTATGTCCAGATCTTCTA[C/T]TGGCACAAGTTCGTGAGTCCCGTGG
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_001291969.1 386 Silent Mutation TAC,TAT Y25Y NP_001278898.1
NM_001291970.1 386 Silent Mutation CTG,TTG L77L NP_001278899.1
NM_006502.2 386 Silent Mutation CTG,TTG L77L NP_006493.1
XM_005249186.3 386 Silent Mutation CTG,TTG L15L XP_005249243.1
XM_011514698.2 386 Silent Mutation TAC,TAT Y25Y XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
There are no transcripts associated with this gene.

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