Ensembl ID:
CDK5 and ABL1 enzyme substrate 1 [Source:RefSeq peptide;Acc:NP_001099135]
Human Orthologue:
Human Description:
Cdk5 and Abl enzyme substrate 1 [Source:HGNC Symbol;Acc:25097]
Mouse Orthologue:
Mouse Description:
CDK5 and Abl enzyme substrate 1 Gene [Source:MGI Symbol;Acc:MGI:1927065]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa30379 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2018.
T > A
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089207 Essential Splice Site 227 525 3 10
Genomic Location (Zv9):
Chromosome Zv9_scaffold3540 (position 56947)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 4484717
GRCz11 2 4325666
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


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

  • Height: A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • Height: Many sequence variants affecting diversity of adult human height. (View Study)
  • Platelet counts: New gene functions in megakaryopoiesis and platelet formation. (View Study)
  • Smoking behavior: Genome-wide and candidate gene association study of cigarette smoking behaviors. (View Study)
  • Tuberculosis: Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (View Study)

(GWAS data comes from


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: