cand1

Ensembl ID:
ENSDARG00000017841
ZFIN ID:
ZDB-GENE-040426-2872
Description:
cullin-associated NEDD8-dissociated protein 1 [Source:RefSeq peptide;Acc:NP_998650]
Human Orthologue:
CAND1
Human Description:
cullin-associated and neddylation-dissociated 1 [Source:HGNC Symbol;Acc:30688]
Mouse Orthologue:
Cand1
Mouse Description:
cullin associated and neddylation disassociated 1 Gene [Source:MGI Symbol;Acc:MGI:1261820]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa40252 Essential Splice Site Mutation detected in F1 DNA During 2016
sa20236 Essential Splice Site Mutation detected in F1 DNA During 2016
sa40253 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa40252
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003694 Essential Splice Site 123 1230 3 15
Genomic Location:
Chromosome 4 (position 12479570)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCATTGGCCTCAAGACAGTGATTGGGGAGCTCCCACCAGCTTCCAGTGG[T/G]AAAACATCCTTTTCCTGCTTGTATTAATGCAGATGTCTCAAAATATTCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20236
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003694 Essential Splice Site 164 1230 4 15
Genomic Location:
Chromosome 4 (position 12479864)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCTCGGTTCAGCTGGAAGCATTGGACATCATGGCAGACATGCTGTGCAG[G/A]TATGTCAGATGAGGCATGTGATGACTGCTGCTTTTGTTTCAACCAATTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40253
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 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003694 Nonsense 348 1230 8 15
Genomic Location:
Chromosome 4 (position 12484150)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCCAAACAGGAAGTGATGATGAGTACAGTGATGATGACGACATGAGCTGG[A/T]AAGTGAGGAGAGCGGCAGCAAAGTGCTTGGATGCAGTGGTGAGCACACGA
Associated Phenotype:
Not determined

GWAS

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

  • Hippocampal atrophy: Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (View Study)

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

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