Product Details

SNP ID

rs201004247

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:226362026 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGAAATCCCGGTCCCAAGAGGA[A/G]CGTCTACACCATCCAGACTAATGTT

Phenotype

MIM: 173870

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PARP1 PubMed Links

Gene Details

Gene

PARP1

Gene Name

poly(ADP-ribose) polymerase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001618.3	3077	Missense Mutation	GCT,GTT	A969V	NP_001609.2

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