hhat

Ensembl ID:
ENSDARG00000074428
ZFIN ID:
ZDB-GENE-051118-1
Description:
protein-cysteine N-palmitoyltransferase HHAT [Source:RefSeq peptide;Acc:NP_001108362]
Human Orthologue:
HHAT
Human Description:
hedgehog acyltransferase [Source:HGNC Symbol;Acc:18270]
Mouse Orthologue:
Hhat
Mouse Description:
hedgehog acyltransferase Gene [Source:MGI Symbol;Acc:MGI:2444681]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9470 Essential Splice Site Available for shipment Available now
sa19176 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa9470
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
ENSDART00000113846 Essential Splice Site 150 494 5 12
ENSDART00000113846 Essential Splice Site 150 494 5 12
Genomic Location:
Chromosome 17 (position 25667328)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCTTGCTSCTCTCCACWCTTAATGTCAGTGCCCTTCAAGATTTACAGG[T/A]GTGTGTATGGGTTTGTCTGTCTRTCTGTAAYTKCATGTWTGTGAGACCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19176
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113846 Essential Splice Site 150 494 5 12
ENSDART00000113846 Essential Splice Site 150 494 5 12
Genomic Location:
Chromosome 17 (position 25667328)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCTTGCTGCTCTCCACTCTTAATGTCAGTGCCCTTCAAGATTTACAGG[T/A]GTGTGTATGGGTTTGTCTGTCTGTCTGTAACTGCATGTATGTGAGACCAA
Associated Phenotype:
Not determined

GWAS

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

  • Schizophrenia: Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. (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/rqhs20zb