ZMP
bdh1
Ensembl ID:
ZFIN ID:
Description:
D-beta-hydroxybutyrate dehydrogenase, mitochondrial [Source:RefSeq peptide;Acc:NP_001082978]
Human Orthologue:
BDH1
Human Description:
3-hydroxybutyrate dehydrogenase, type 1 [Source:HGNC Symbol;Acc:1027]
Mouse Orthologue:
Bdh1
Mouse Description:
3-hydroxybutyrate dehydrogenase, type 1 Gene [Source:MGI Symbol;Acc:MGI:1919161]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15268 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15268
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000082499 | Nonsense | 233 | 359 | 5 | 5 |
| ENSDART00000147468 | Nonsense | 237 | 363 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 24 (position 3413626)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 3304119 |
| GRCz11 | 24 | 3335906 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAATGGGAAACGCTCTCCGCTCGCCGTACTGTATTTCCAAATACGGAGTT[G/T]AAGCTTTTTCAGACTGTCTGCGATAYGAAATGAAGACGTGGGGCGTCAAA
Long Flanking Sequence:
CAACAAATGTTAATAATAAACGTTTACAAAGCGATGTTATACTTTCAAAAATCACGATTACAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGCCTAATATCCGATGGCCAGAAAGTGATATATTTTATATTAATTGTTAAAATATTGGTGTCTGAGATGCAGCAAGTCCAGAGACAGTTGTGTGCACATGATTGTATATAAAATTCACTTAAATGTGTGACATGACTAAAAATAGTTCATAAACAAATATTTTCTCAATTCAATTGAATAGCGGTTTGGACCTGCAAACAGTGGAGAATACACGTCACGACTTAACAAGCGGATAAAGCTCTTTCAAAGACAGAAATTGTATAGTTCTCTCACTTAGATATTTTATGTATGTCTCCAGGTCGTGTGGTGAACATCGCCAGCATGTACGGCCGAATGGGAAACGCTCTCCGCTCGCCGTACTGTATTTCCAAATACGGAGTT[G/T]AAGCTTTTTCAGACTGTCTGCGATACGAAATGAAGACGTGGGGCGTCAAAGTTTCCGTCATTGAACCCGGAAACTTCATCGTTGCCACAGGGATCCTAACACGCGACATCGTCACAACAACGGCCGAGAAGCTCTGGAAGGAGGCGCCCCCTATTGTCCAGGAGGATTATGGGAAGGCTCATTTTGAGCAGTACATGGCTCTAATGCGCTCCTACTGCAACAGCGGCCAGCGCGAGATCGAACCAGTGCTAGACGACATCACAGACGCCATCATGTCCCAGCGGCCATACACCAGATACAGCCCAATGGAGCCACACTGGTGGATCCGCGTCCAGATCATGACGCATCTTCCTGGAGCCATTTCAGACAGACTCTACTTCTGATGGGACCACCACTAATATATATATATATCATCAGCATACAGTCCATATATGTCCAATCAAGTCAGTATGCAACCTTAATTGAATAAAAGAATCGCATGTCTTAAAGGAAAACTCTGG
Associated Phenotype:
Not determined