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- SNP ID:
- rs28561399
- Gene
-
KLHL17PERM1PLEKHN1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 975093 - 975093 on Build GRCh38
- Polymorphism:
- A/G, Transition Substitution
- Context Sequence [VIC/FAM]:
AGCACGGGAGACGTTGACACCACCG[A/G]ACGAGAAAGAAAAAAGAGAGAAGAG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
32 submissions
|
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Phenotype: |
MIM: 615921
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Literature Links: |
KLHL17 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| KLHL17 - kelch like family member 17 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| PERM1 - PPARGC1 and ESRR induced regulator, muscle 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001291366.1 | 2389 | Intron | NP_001278295.1 | |||
| NM_001291367.1 | 2389 | Intron | NP_001278296.1 | |||
| XM_017002583.1 | 2389 | Intron | XP_016858072.1 | |||
| XM_017002584.1 | 2389 | Intron | XP_016858073.1 | |||
| XM_017002585.1 | 2389 | Intron | XP_016858074.1 | |||
| PLEKHN1 - pleckstrin homology domain containing N1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001160184.1 | 2389 | UTR 3 | NP_001153656.1 | |||
| NM_032129.2 | 2389 | UTR 3 | NP_115505.2 | |||
| XM_006710944.3 | 2389 | Intron | XP_006711007.2 | |||
| XM_011542248.2 | 2389 | Intron | XP_011540550.2 | |||
| XM_017002474.1 | 2389 | Intron | XP_016857963.1 | |||
| XM_017002475.1 | 2389 | Intron | XP_016857964.1 | |||
| XM_017002476.1 | 2389 | Intron | XP_016857965.1 | |||
| XM_017002477.1 | 2389 | Intron | XP_016857966.1 | |||
| XM_017002478.1 | 2389 | Intron | XP_016857967.1 | |||
| XM_017002479.1 | 2389 | Intron | XP_016857968.1 | |||
Back To TopMore Information
Additional Information:
For this assay, SNP(s) [rs74424855] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Panther Classification:
Gene Ontology Categories:
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