Product Details

SNP ID
rs780824153
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43576250 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCTGCTGGGGACGGTTGCCCGG[G/A]CAGGATCCTTTACGATCCCTTCTCG
Phenotype
MIM: 603968 MIM: 607845
Polymorphism
G/A, 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_001291969.1 104 UTR 5 NP_001278898.1
NM_001291970.1 104 UTR 5 NP_001278899.1
NM_006502.2 104 UTR 5 NP_006493.1
XM_005249186.3 104 UTR 5 XP_005249243.1
XM_011514698.2 104 UTR 5 XP_011513000.1
Gene
XPO5
Gene Name
exportin 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020750.2 104 Intron NP_065801.1

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