Product Details

SNP ID
rs144679936
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:121432989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTGAAGGATGAAGAAGCCTCCTC[C/T]GATTGGGCAGAACATCCCTTGCAGT
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 7717 Missense Mutation AGA,GGA R2530G NP_955452.3
XM_011512343.2 7717 Missense Mutation AGA,GGA R2485G XP_011510645.1
XM_011512347.2 7717 Missense Mutation AGA,GGA R2531G XP_011510649.1
XM_011512348.2 7717 Missense Mutation AGA,GGA R2360G XP_011510650.1
XM_011512352.2 7717 Intron XP_011510654.1
XM_011512354.2 7717 Missense Mutation AGA,GGA R1768G XP_011510656.1
XM_017005565.1 7717 Missense Mutation AGA,GGA R2141G XP_016861054.1
Gene
STXBP5L
Gene Name
syntaxin binding protein 5 like
There are no transcripts associated with this gene.

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