calcoco1

Ensembl ID:
ENSDARG00000036695
ZFIN ID:
ZDB-GENE-030131-6911
Description:
Calcium-binding and coiled-coil domain-containing protein 1 [Source:UniProtKB/Swiss-Prot;Acc:A2BGD5]
Human Orthologue:
CALCOCO1
Human Description:
calcium binding and coiled-coil domain 1 [Source:HGNC Symbol;Acc:29306]
Mouse Orthologue:
Calcoco1
Mouse Description:
calcium binding and coiled coil domain 1 Gene [Source:MGI Symbol;Acc:MGI:1914738]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24385 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24385
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103150 Essential Splice Site 427 640 9 15

The following transcripts of ENSDARG00000036695 do not overlap with this mutation:

Genomic Location:
Chromosome 23 (position 36041755)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGGGCCAACTGGGCACAGGAGAGAGAGACACTGCAGCAGAATGCTGAGG[T/C]ACATACAGTATAGTGAAAATGTATATTAAAAACAAAACCAAAAAAACAAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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* quick link - http://q.sanger.ac.uk/622v9t62