Product Details

SNP ID

rs200933703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:396946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCGCCTTTGGGGCCGCTGGGTAC[C/G]GGGGTGCCCAGCCCACCCCTCCCAT

Phenotype

MIM: 605561 MIM: 605478

Polymorphism

C/G, Transversion 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	555	Missense Mutation	CGG,GGG	R164G	NP_001289958.1
NM_007183.3	555	Missense Mutation	CGG,GGG	R149G	NP_009114.1

Gene

SIGIRR

Gene Name

single Ig and TIR domain containing

There are no transcripts associated with this gene.

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