auh

Ensembl ID:
ENSDARG00000042975
ZFIN ID:
ZDB-GENE-040801-95
Description:
methylglutaconyl-CoA hydratase, mitochondrial [Source:RefSeq peptide;Acc:NP_001003576]
Human Orthologue:
AUH
Human Description:
AU RNA binding protein/enoyl-CoA hydratase [Source:HGNC Symbol;Acc:890]
Mouse Orthologue:
Auh
Mouse Description:
AU RNA binding protein/enoyl-coenzyme A hydratase Gene [Source:MGI Symbol;Acc:MGI:1338011]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11998 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11998
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063093 Nonsense 137 325 4 10
Genomic Location:
Chromosome 10 (position 5433290)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATNNNNNNNNNNNNNTGTTTTGTTYGAACAGGTGCAGACTTAAAGGAAAGAGCAAAAATGCAR[C/T]AGAGTGAAGTGGGACSRTTTGTCACTAAAGCGAGGACACTTATATCAGAG
Associated Phenotype:
Not determined

GWAS

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

(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/cioj5v16