Product Details

SNP ID

rs2306211

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:121432937 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAATACCTGAACAACATCTTCTTCT[A/G]CCACTTCATATAGGAGTTCATCATG

Phenotype

MIM: 604419 MIM: 609381

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

POLQ PubMed Links

Additional Information

For this assay, SNP(s) [rs3218634] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	7769	Missense Mutation	GCA,GTA	A2547V	NP_955452.3
XM_011512343.2	7769	Missense Mutation	GCA,GTA	A2502V	XP_011510645.1
XM_011512347.2	7769	Missense Mutation	GCA,GTA	A2548V	XP_011510649.1
XM_011512348.2	7769	Missense Mutation	GCA,GTA	A2377V	XP_011510650.1
XM_011512352.2	7769	Intron			XP_011510654.1
XM_011512354.2	7769	Missense Mutation	GCA,GTA	A1785V	XP_011510656.1
XM_017005565.1	7769	Missense Mutation	GCA,GTA	A2158V	XP_016861054.1

Gene

STXBP5L

Gene Name

syntaxin binding protein 5 like

There are no transcripts associated with this gene.

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