Product Details

SNP ID

rs200304190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:51944513 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGAGCGGGACCACTTTGTGTCT[C/T]ACCCGGGCAAGTACACACTTATCGA

Phenotype

MIM: 607726

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PARP3 PubMed Links

Gene Details

Gene

PARP3

Gene Name

poly(ADP-ribose) polymerase family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003931.3	847	Missense Mutation	CAC,TAC	H153Y	NP_001003931.3
NM_005485.5	847	Missense Mutation	CAC,TAC	H146Y	NP_005476.4
XM_005264779.4	847	Missense Mutation	CAC,TAC	H146Y	XP_005264836.2
XM_017005490.1	847	Missense Mutation	CAC,TAC	H146Y	XP_016860979.1

Gene

RRP9

Gene Name

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

There are no transcripts associated with this gene.

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