Product Details

SNP ID

rs854484

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:201286061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTATCTGGCTTAGTTTTCATCAGA[A/T]TTCCTTGTCTTCTCCATCAGAAACA

Phenotype

MIM: 601975

Polymorphism

A/T, Transversion 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		Intron			NP_000290.2
NM_001005337.2		Intron			NP_001005337.1

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