Product Details

SNP ID

rs1381057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:121436127 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCCTCATCTATGAACAAACCTGTT[C/T]GGTCACTTTGGAGCATACCCTCTCG

Phenotype

MIM: 604419

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	7667	Missense Mutation	CAA,CGA	Q2513R	NP_955452.3
XM_011512343.2	7667	Missense Mutation	CAA,CGA	Q2467R	XP_011510645.1
XM_011512347.2	7667	Missense Mutation	CAA,CGA	Q2513R	XP_011510649.1
XM_011512348.2	7667	Missense Mutation	CAA,CGA	Q2342R	XP_011510650.1
XM_011512352.2	7667	Intron			XP_011510654.1
XM_011512354.2	7667	Missense Mutation	CAA,CGA	Q1750R	XP_011510656.1
XM_017005565.1	7667	Missense Mutation	CAA,CGA	Q2123R	XP_016861054.1

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