
Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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cobl
- Ensembl ID:
- ENSDARG00000004532
- ZFIN ID:
- ZDB-GENE-091020-11
- Human Orthologue:
- COBL
- Human Description:
- cordon-bleu homolog (mouse) [Source:HGNC Symbol;Acc:22199]
- Mouse Orthologue:
- Cobl
- Mouse Description:
- cordon-bleu Gene [Source:MGI Symbol;Acc:MGI:105056]
Alleles
There is 1 allele of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
sa13808 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa13808
- 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 > G
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000014944 | Essential Splice Site | 148 | 634 | 3 | 10 |
ENSDART00000132721 | Essential Splice Site | 133 | 238 | 4 | 6 |
The following transcripts of ENSDARG00000004532 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 16 (position 9908838)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 8694777 GRCz11 16 8608506 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGTGCTGGAGGACAGGGTGATWCGGAAACCTCCACCYAAAGTGCCAGAGG[T/G]GAGTGWCTGTAACCCARTGTTTAATAGATTTTTGACCTCKTKATAATGTT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Type 1 diabetes: Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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