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:
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:
Chromosome 16 (position 9908838)
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

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/72bszlrd