Product Details

SNP ID

rs138649062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:396655 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTGCAGGCTGGCTTCAGCTCT[C/T]GCTCTCAGGGCCTGAGTGGGGACAA

Phenotype

MIM: 605561 MIM: 605478

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PKP3 PubMed Links

Gene Details

Gene

PKP3

Gene Name

plakophilin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303029.1	390	Missense Mutation	CGC,TGC	R109C	NP_001289958.1
NM_007183.3	390	Missense Mutation	CGC,TGC	R94C	NP_009114.1

Gene

SIGIRR

Gene Name

single Ig and TIR domain containing

There are no transcripts associated with this gene.

View Full Product Details