aco1

Ensembl ID:
ENSDARG00000026376
ZFIN ID:
ZDB-GENE-031118-76
Description:
cytoplasmic aconitate hydratase [Source:RefSeq peptide;Acc:NP_001030155]
Human Orthologue:
ACO1
Human Description:
aconitase 1, soluble [Source:HGNC Symbol;Acc:117]
Mouse Orthologue:
Aco1
Mouse Description:
aconitase 1 Gene [Source:MGI Symbol;Acc:MGI:87879]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17511 Essential Splice Site Available for shipment Available now
sa21154 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa17511
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045253 Essential Splice Site 39 896 1 20
Genomic Location:
Chromosome 7 (position 75172360)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGGACCACAAGTTCTWCAACCTCAGAAARCTTAAAGACCCCAGATATGG[T/A]AAGATCATTTTTGATGCGTGTTTYATTGSATTATTTAACCCTTTAAGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21154
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045253 Nonsense 824 896 19 20
Genomic Location:
Chromosome 7 (position 75151910)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGGATTCACCGCAGTAATCTAGTGGGCATGGGTGTAATTCCTCTGGAGTA[T/A]CTGCCGGGAGACTCAGCGGAGAGTTTGGGTCTCAGCGGACGCGAGCGCTA
Associated Phenotype:
Not determined

GWAS

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

  • Asthma: Genome-wide association study to identify genetic determinants of severe asthma. (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/4ew8c2er