Product Details

SNP ID

rs140539975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143977999 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGTGGTACAGCACCTGCTCCACC[A/G]GGCGCCGCTCGCATCGCTGCAGCAG

Phenotype

MIM: 609564 MIM: 601282

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PARP10 PubMed Links

Gene Details

Gene

PARP10

Gene Name

poly(ADP-ribose) polymerase family member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317895.1	2751	Missense Mutation	CCG,CTG	P892L	NP_001304824.1
NM_032789.4	2751	Missense Mutation	CCG,CTG	P880L	NP_116178.2
XM_011517336.2	2751	Missense Mutation	CCG,CTG	P871L	XP_011515638.1

Gene

PLEC

Gene Name

plectin

There are no transcripts associated with this gene.

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