hibadha

Ensembl ID:
ENSDARG00000036236
ZFIN ID:
ZDB-GENE-040801-264
Description:
3-hydroxyisobutyrate dehydrogenase a [Source:RefSeq peptide;Acc:NP_001003646]
Human Orthologue:
HIBADH
Human Description:
3-hydroxyisobutyrate dehydrogenase [Source:HGNC Symbol;Acc:4907]
Mouse Orthologue:
Hibadh
Mouse Description:
3-hydroxyisobutyrate dehydrogenase Gene [Source:MGI Symbol;Acc:MGI:1889802]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa43258 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa17219 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa43258
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 2016.
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052639 Splice Site, Nonsense 77 328 2 8
Genomic Location:
Chromosome 19 (position 19068441)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTACGGATGCCTTCCCGGAGTCTTGCAAAGAGCTTCAGGATTCAGGAGCG[C/T]AGGTATAAATGTCTGGTTCTCAAAAAACAGAGTCTCAAAAGAGAATTACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17219
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052639 Nonsense 106 328 3 8
Genomic Location:
Chromosome 19 (position 19068666)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACCGCATCATCACCATGCTACCGTCCAGCCCCAACGTCATTGAGGTTTA[T/A]ACAGGRTCCAATGGCATCCTTAGGTGTGTTCACTCAAAATTAATTCTCCT
Associated Phenotype:
Not determined

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