Product Details

SNP ID

rs12612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32792173 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCACATTTTGATTCCAGGAAGCCAT[C/G]TACCATAAGCCCTAATAACAAAGAC

Phenotype

MIM: 602861

Polymorphism

C/G, Transversion 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	3012	UTR 3			NP_001005242.2
NM_004572.3	3012	UTR 3			NP_004563.2

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