Product Details

SNP ID

rs1046150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32790993 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCTTTTAAAATTGAAAAAAAATTG[C/T]TTCAAATATAATAAAGACTTAAGTA

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	4192	UTR 3			NP_001005242.2
NM_004572.3	4192	UTR 3			NP_004563.2

View Full Product Details