Product Details

SNP ID

rs56090750

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:47778503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATGCCCAAAGTCGATCCCGATCA[C/T]GCCGCCAGTCTCCATGGCCACCATA

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	11773	Missense Mutation	ATG,GTG	M3906V	NP_001075109.1
NM_006904.6	11773	Missense Mutation	ATG,GTG	M3937V	NP_008835.5

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