Product Details

SNP ID
rs56239418
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43587329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATGTCTCGTTTTGCTGTGATTGA[A/G]CGTGCCAGCATTGATGAGGCTTACG
Phenotype
MIM: 603968
Polymorphism
A/G, 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_001291969.1 487 Intron NP_001278898.1
NM_001291970.1 487 Silent Mutation GAA,GAG E110E NP_001278899.1
NM_006502.2 487 Silent Mutation GAA,GAG E110E NP_006493.1
XM_005249186.3 487 Silent Mutation GAA,GAG E48E XP_005249243.1
XM_011514698.2 487 Intron XP_011513000.1

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