Product Details

SNP ID

rs2466759

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:47776935 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCAATTTTTTTCAGCAACATTTA[C/T]TTCTTGAATCCATGACCCTCCTTTT

Phenotype

MIM: 600899

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRKDC PubMed Links

Gene Details

Gene

PRKDC

Gene Name

protein kinase, DNA-activated, catalytic polypeptide

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081640.1	12055	Missense Mutation	ATA,GTA	I4000V	NP_001075109.1
NM_006904.6	12055	Missense Mutation	ATA,GTA	I4031V	NP_008835.5

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