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- SNP ID:
- rs34626929
- Gene
-
PKP1 - Gene Name
- Set Membership:
- > HapMap
- Chromosome Location:
- Chr.1: 201313206 - 201313206 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CTCAAGCGGGAGCCTGACAACAGGC[A/G]CTTCAGCTCCTACAGCCAGATGGAG
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
29 submissions
|
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Phenotype: |
MIM: 601975
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Literature Links: |
PKP1 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
|
| PKP1 - plakophilin 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000299.3 | 598 | Missense Mutation | CAC,CGC | H,R 116 | NP_000290.2 | |
| NM_001005337.2 | 598 | Missense Mutation | CAC,CGC | H,R 116 | NP_001005337.1 | |
Back To TopMore Information
Set Membership: |
HapMap
|
Panther Classification:
Gene Ontology Categories:
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