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SNP ID

rs145724455

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:396627 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACAGGCACATCCAGGGGGCAGTA[C/T]CACACCCTGCAGGCTGGCTTCAGCT

Phenotype

MIM: 605561 MIM: 605478

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PKP3 PubMed Links

Gene Details

Gene

PKP3

Gene Name

plakophilin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303029.1	362	Silent Mutation	TAC,TAT	Y99Y	NP_001289958.1
NM_007183.3	362	Silent Mutation	TAC,TAT	Y84Y	NP_009114.1

Gene

SIGIRR

Gene Name

single Ig and TIR domain containing

There are no transcripts associated with this gene.

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