Product Details

SNP ID

rs199900632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32792668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCTTGTAGGCATGATGCAGTTC[C/T]GTGTGTGCCCACAGAGAATACAGAA

Phenotype

MIM: 602861

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PKP2 PubMed Links

Gene Details

Gene

PKP2

Gene Name

plakophilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005242.2	2668	Silent Mutation	ACA,ACG	T807T	NP_001005242.2
NM_004572.3	2668	Silent Mutation	ACA,ACG	T851T	NP_004563.2

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