Product Details

SNP ID

rs143112457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219077265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCACCGTGGACTCTTTCTCAGGT[A/G]CTGAGAGGGTTGGGGCTGAGGAGAC

Phenotype

MIM: 611290

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NHEJ1 PubMed Links

Gene Details

Gene

NHEJ1

Gene Name

non-homologous end joining factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024782.2	952	Missense Mutation	GCA,GTA	A269V	NP_079058.1

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