Product Details

SNP ID

rs2268147

Assay Type

Functionally tested

NCBI dbSNP Submissions

62

Location

Chr.1:201283738 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

CGCCGCTCAAGACCGCCTTGGCGTA[C/T]GAATGCTTCCAGGACCAGGACAACT

Phenotype

MIM: 601975

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PKP1 PubMed Links

Gene Details

Gene

PKP1

Gene Name

plakophilin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000299.3	287	Silent Mutation	TAC,TAT	Y12Y	NP_000290.2
NM_001005337.2	287	Silent Mutation	TAC,TAT	Y12Y	NP_001005337.1

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