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- SNP ID:
- rs79399438
- Gene
-
DFNB59FKBP7PRKRA - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 178461089 - 178461089 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CATGACTGATATTTCACTCAAAGAA[A/G]GGACCCATATCCGAGTTAACTTACT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 610219
MIM: 607062
MIM: 603424
|
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Literature Links: |
DFNB59 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
|
|||||
AMR
|
| DFNB59 - deafness, autosomal recessive 59 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001042702.3 | 1601 | Missense Mutation | AGG,GGG | R,G 292 | NP_001036167.1 | |
| XM_005246627.2 | 1601 | Missense Mutation | AGG,GGG | R,G 295 | XP_005246684.1 | |
| XM_005246628.3 | 1601 | Missense Mutation | AGG,GGG | R,G 294 | XP_005246685.1 | |
| XM_005246629.3 | 1601 | Missense Mutation | AGG,GGG | R,G 289 | XP_005246686.1 | |
| XM_011511247.2 | 1601 | UTR 3 | XP_011509549.1 | |||
| XM_011511249.2 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_011509551.1 | |
| XM_011511250.2 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_011509552.1 | |
| XM_011511251.1 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_011509553.1 | |
| XM_017004221.1 | 1601 | Missense Mutation | AGG,GGG | R,G 327 | XP_016859710.1 | |
| XM_017004222.1 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_016859711.1 | |
| XM_017004223.1 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_016859712.1 | |
| XM_017004224.1 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_016859713.1 | |
| XM_017004225.1 | 1601 | Missense Mutation | AGG,GGG | R,G 133 | XP_016859714.1 | |
| FKBP7 - FK506 binding protein 7 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| PRKRA - protein activator of interferon induced protein kinase EIF2AK2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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