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See other PKP1 GT Assays ›
SNP ID:
rs2268147
Gene
PKP1
Gene Name
Set Membership:
> HapMap > JSNP
Chromosome Location:
Chr.1: 201283738 - 201283738 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

CGCCGCTCAAGACCGCCTTGGCGTA[C/T]GAATGCTTCCAGGACCAGGACAACT

Assay ID C____342182_20
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 62 submissions

Phenotype:

 MIM: 601975

Literature Links:

 PKP1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.18)
(0.82)
Caucasian - Not Available CEPH (CEU)
T (0.07)
(0.93)
EAS
T (0.09)
(0.91)
African American - Not Available YRI (Yoruba)
T (0.41)
(0.59)
SAS
T (0.17)
(0.83)
Chinese - Not Available JPT (Japanese)
T (0.04)
(0.96)
AFR
T (0.38)
(0.62)
Japanese - Not Available CHB (Han Chinese)
T (0.06)
(0.94)
EUR
T (0.07)
(0.93)
AMR
T (0.11)
(0.89)
PKP1 - plakophilin 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000299.3 287 Silent Mutation TAC,TAT Y,Y 12 NP_000290.2
NM_001005337.2 287 Silent Mutation TAC,TAT Y,Y 12 NP_001005337.1

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