acana

Ensembl ID:
ENSDARG00000035891
ZFIN ID:
ZDB-GENE-050208-221
Description:
Aggrecan [Source:UniProtKB/TrEMBL;Acc:Q75ZI2]
Human Orthologue:
ACAN
Human Description:
aggrecan [Source:HGNC Symbol;Acc:319]
Mouse Orthologue:
Acan
Mouse Description:
aggrecan Gene [Source:MGI Symbol;Acc:MGI:99602]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7281 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7281
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:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003690 None None 308 None 8
ENSDART00000005288 None None 287 None 7
ENSDART00000017467 Nonsense 1241 1831 18 28
ENSDART00000132881 None None 169 None 3
ENSDART00000147879 None None 344 None 4
Genomic Location:
Chromosome 7 (position 50236983)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCTAGTAGTGATGTCATCTTCTTCAGCAATAATGACMTGGTGGAAATGT[C/A]AAAMAAGCCACTTCAAGGAMTGGAATTAGGAAGAGGGGAAGTGGAATATA
Associated Phenotype:
Not determined

GWAS

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

  • Height: Genome-wide association analysis identifies 20 loci that influence adult height. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • Height: Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (View Study)

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

Register

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