ENSDARG00000089724

Ensembl ID:
ENSDARG00000089724
Human Orthologue:
CYLD
Human Description:
cylindromatosis (turban tumor syndrome) [Source:HGNC Symbol;Acc:2584]
Mouse Orthologue:
Cyld
Mouse Description:
cylindromatosis (turban tumor syndrome) Gene [Source:MGI Symbol;Acc:MGI:1921506]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16979 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16979
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126211 Nonsense 455 594 11 13
Genomic Location:
Chromosome 11 (position 26220739)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTRAATATGAATGTGTGCAATGCCTGAYGGACCGCAAGCTTCAGCCAGGC[A/T]AAATTAAGCWGTWTTGCTCCACCTGCAACACACAGGTAGTRCAYCTGAAC
Associated Phenotype:
Not determined

GWAS

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

  • Bone mineral density: Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (View Study)
  • Crohn's disease: A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (View Study)
  • Leprosy: Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. (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/hcazej82