Product Details

SNP ID

rs111517471

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32796108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACGGGCAGAACTGAAGGACTTA[C/G]GCATCGCCTGCACTAATGGCCATAA

Phenotype

MIM: 602861

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PKP2 PubMed Links

Additional Information

For this assay, SNP(s) [rs149968852] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

PKP2

Gene Name

plakophilin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005242.2		Intron			NP_001005242.2
NM_004572.3		Intron			NP_004563.2

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