Product Details

SNP ID
rs200106219
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:407518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAGGATGAAGTTCACGAACTTGC[C/G]GTCCTCGGGGCAGTCGCTGTAGGAG
Phenotype
MIM: 605561 MIM: 605478
Polymorphism
C/G, Transversion 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_001135053.1 758 Missense Mutation CGC,GGC R178G NP_001128525.1
NM_001135054.1 758 Missense Mutation CGC,GGC R178G NP_001128526.1
NM_021805.2 758 Missense Mutation CGC,GGC R178G NP_068577.2
XM_005253044.2 758 Missense Mutation CGC,GGC R178G XP_005253101.1
XM_005253045.1 758 Missense Mutation CGC,GGC R178G XP_005253102.1
XM_005253046.1 758 Missense Mutation CGC,GGC R178G XP_005253103.1
XM_005253048.4 758 Missense Mutation CGC,GGC R123G XP_005253105.1
XM_017018099.1 758 Missense Mutation CGC,GGC R178G XP_016873588.1
XM_017018100.1 758 Missense Mutation CGC,GGC R122G XP_016873589.1

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