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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:158296
- Ensembl ID:
- ENSDARG00000070923
- ZFIN ID:
- ZDB-GENE-070112-1272
- Description:
- hypothetical protein LOC791212 [Source:RefSeq peptide;Acc:NP_001074163]
- Human Orthologue:
- CAV2
- Human Description:
- caveolin 2 [Source:HGNC Symbol;Acc:1528]
- Mouse Orthologue:
- Cav2
- Mouse Description:
- caveolin 2 Gene [Source:MGI Symbol;Acc:MGI:107571]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa16127 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa16127
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104524 | Nonsense | 75 | 171 | 3 | 4 |
- Genomic Location (Zv9):
- Chromosome 23 (position 18777317)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 18680256 GRCz11 23 18606599 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CAGGTAGAGTTCAGCGATGTTTTGGCGGAGCCCKYATCCACACGCAGCTA[T/A]GACCGGGTGTGGGTTTACAGTGGCATCGGCTTCGAGTCCRCRCGGCTGTG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Glaucoma (primary open-angle): Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. (View Study)
- PR interval: Genome-wide association study of PR interval. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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