Product Details

SNP ID
rs56300149
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43576328 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGCTCGAAACTCACTGGACCGCT[C/T]CTAGAAAGGCGAAAAGATATTCAGG
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_001291969.1 182 UTR 5 NP_001278898.1
NM_001291970.1 182 UTR 5 NP_001278899.1
NM_006502.2 182 UTR 5 NP_006493.1
XM_005249186.3 182 UTR 5 XP_005249243.1
XM_011514698.2 182 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_020750.2 182 Intron NP_065801.1

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