Product Details

SNP ID
rs199909034
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:121433032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGCAGTTTTCTCTTTCGTGACAA[C/T]CCTACTTCATGAAAAAGGAGCAAAA
Phenotype
MIM: 604419 MIM: 609381
Polymorphism
C/T, Transition 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 7674 Silent Mutation GGA,GGG G2515G NP_955452.3
XM_011512343.2 7674 Silent Mutation GGA,GGG G2470G XP_011510645.1
XM_011512347.2 7674 Silent Mutation GGA,GGG G2516G XP_011510649.1
XM_011512348.2 7674 Silent Mutation GGA,GGG G2345G XP_011510650.1
XM_011512352.2 7674 Intron XP_011510654.1
XM_011512354.2 7674 Silent Mutation GGA,GGG G1753G XP_011510656.1
XM_017005565.1 7674 Silent Mutation GGA,GGG G2126G XP_016861054.1
Gene
STXBP5L
Gene Name
syntaxin binding protein 5 like
There are no transcripts associated with this gene.

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