Product Details

SNP ID

rs150864495

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:406531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCACTTCTTTCCAAAAATCGGAG[A/G]AAGGAGTCTGGGGGCCAGGTCGGGG

Phenotype

MIM: 605561 MIM: 605478

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PKP3 PubMed Links

Gene Details

Gene

PKP3

Gene Name

plakophilin 3

There are no transcripts associated with this gene.

Gene

SIGIRR

Gene Name

single Ig and TIR domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135053.1	1113	Missense Mutation	TCC,TTC	S296F	NP_001128525.1
NM_001135054.1	1113	Missense Mutation	TCC,TTC	S296F	NP_001128526.1
NM_021805.2	1113	Missense Mutation	TCC,TTC	S296F	NP_068577.2
XM_005253044.2	1113	Missense Mutation	TCC,TTC	S296F	XP_005253101.1
XM_005253045.1	1113	Missense Mutation	TCC,TTC	S296F	XP_005253102.1
XM_005253046.1	1113	Missense Mutation	TCC,TTC	S296F	XP_005253103.1
XM_005253048.4	1113	Missense Mutation	TCC,TTC	S241F	XP_005253105.1
XM_017018099.1	1113	Missense Mutation	TCC,TTC	S296F	XP_016873588.1
XM_017018100.1	1113	Missense Mutation	TCC,TTC	S240F	XP_016873589.1

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