ZMP
hibadha
Ensembl ID:
ZFIN ID:
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 |
---|---|---|---|
sa43258 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17219 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43258
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052639 | Splice Site, Nonsense | 77 | 328 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 19 (position 19068441)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 20029745 |
GRCz11 | 19 | 19602696 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACGGATGCCTTCCCGGAGTCTTGCAAAGAGCTTCAGGATTCAGGAGCG[C/T]AGGTATAAATGTCTGGTTCTCAAAAAACAGAGTCTCAAAAGAGAATTACT
Long Flanking Sequence:
AAACCAGCCTGGAAATGGCCAAAATCCTTCTAAAACCAGGCTGGTCGACCAGCCAAAGCTGGTTTAGGCTGTTTTTTTCAGCAGGGATACTAAGATGTGAAGAGCTAAACAATAGAGAATTTGAAGAACATAACCTATTGGATCTGAAAAAAAGGTACAGCTTTTTAAACTTTTACAAAGTAATTTATTTATCATGATTCACAGTATTTTGGAATGCCCACAAAACTGTATCACAAAATATTTGCATGACTAATGTTGCCAGCTTTGGTGCACTATTTGAGGTTTTTGTTTGCCATAGAGATATTTGTTCTTTTTAAATCATGATATGTGTCTGTTGTTCAGTATCCTGTAGATCAATGGCCTCCAAGACTCCAGTGGGTTTTATTGGACTGGGTAACATGGGCACACCTATGGCTAGAAATTTACTGAAGAACGGATATCCTGTCATTGCTACGGATGCCTTCCCGGAGTCTTGCAAAGAGCTTCAGGATTCAGGAGCG[C/T]AGGTATAAATGTCTGGTTCTCAAAAAACAGAGTCTCAAAAGAGAATTACTGTTTTTCAGTTTTCTTTAATGTCTATCCAGTACAGATCTGTATTTGACCGACCTTAATGGAAATAACCACTGGTTCTTTTTCTTGCAGATCCTAGATAGCCCTGCTGAAGTGGCCGAAAAAGCAGACCGCATCATCACCATGCTACCGTCCAGCCCCAACGTCATTGAGGTTTATACAGGATCCAATGGCATCCTTAGGTGTGTTCACTCAAAATTAATTCTCCTTTTAATTTGACTGAATTTTACCATATTGAGGAAATAGTTGAATTTTCAAGTTTTTAAAAATTGTTATTACATAGTGTATAATTATTGCAATATAATTACCATCAACAAGACAAGTGTTCGATAAATGTTCCTCATAATGCTTATGCTTCAAAGTGGAACTAAATAGTGCTGCTTGTATGGACTAGATGGACAGCCCAATAGCAGTGACTTGTTTACATGTGGATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17219
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000052639 | Nonsense | 106 | 328 | 3 | 8 |
Genomic Location (Zv9):
Chromosome 19 (position 19068666)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 20029970 |
GRCz11 | 19 | 19602921 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACCGCATCATCACCATGCTACCGTCCAGCCCCAACGTCATTGAGGTTTA[T/A]ACAGGRTCCAATGGCATCCTTAGGTGTGTTCACTCAAAATTAATTCTCCT
Long Flanking Sequence:
CTGTATCACAAAATATTTGCATGACTAATGTTGCCAGCTTTGGTGCACTATTTGAGGTTTTTGTTTGCCATAGAGATATTTGTTCTTTTTAAATCATGATATGTGTCTGTTGTTCAGTATCCTGTAGATCAATGGCCTCCAAGACTCCAGTGGGTTTTATTGGACTGGGTAACATGGGCACACCTATGGCTAGAAATTTACTGAAGAACGGATATCCTGTCATTGCTACGGATGCCTTCCCGGAGTCTTGCAAAGAGCTTCAGGATTCAGGAGCGCAGGTATAAATGTCTGGTTCTCAAAAAACAGAGTCTCAAAAGAGAATTACTGTTTTTCAGTTTTCTTTAATGTCTATCCAGTACAGATCTGTATTTGACCGACCTTAATGGAAATAACCACTGGTTCTTTTTCTTGCAGATCCTAGATAGCCCTGCTGAAGTGGCCGAAAAAGCAGACCGCATCATCACCATGCTACCGTCCAGCCCCAACGTCATTGAGGTTTA[T/A]ACAGGATCCAATGGCATCCTTAGGTGTGTTCACTCAAAATTAATTCTCCTTTTAATTTGACTGAATTTTACCATATTGAGGAAATAGTTGAATTTTCAAGTTTTTAAAAATTGTTATTACATAGTGTATAATTATTGCAATATAATTACCATCAACAAGACAAGTGTTCGATAAATGTTCCTCATAATGCTTATGCTTCAAAGTGGAACTAAATAGTGCTGCTTGTATGGACTAGATGGACAGCCCAATAGCAGTGACTTGTTTACATGTGGATAGGTCTTGAATCAATCAAAAGACCTGTTCTGAATGTAATATTGCAAAGAACATAAATGTCTCTGTGATTTACTTTAAACCCTGATGAAAAGCATTGAGGTTCACAACGGCTTTGACAAACGAGAAATATTGTGCCATGAATAATCCAGTTAGAGGTTGGATTGGTTTTACGGTAGTAAACTACACCATCATATTTGAAAGATATACATATGGATTTTATCTTATTA
Associated Phenotype:
Not determined