Product Details

SNP ID
rs139458640
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:121431568 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGAGGCACTAAGGGACTGATAAG[C/G]GGGTATTTTCTGTCTCTGGCAGTAT
Phenotype
MIM: 604419 MIM: 609381
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
POLQ PubMed Links

Gene Details

Gene
POLQ
Gene Name
DNA polymerase theta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199420.3 8638 UTR 3 NP_955452.3
XM_011512343.2 8638 UTR 3 XP_011510645.1
XM_011512347.2 8638 UTR 3 XP_011510649.1
XM_011512348.2 8638 UTR 3 XP_011510650.1
XM_011512352.2 8638 Intron XP_011510654.1
XM_011512354.2 8638 UTR 3 XP_011510656.1
XM_017005565.1 8638 UTR 3 XP_016861054.1
Gene
STXBP5L
Gene Name
syntaxin binding protein 5 like
There are no transcripts associated with this gene.

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