ZMP
zgc:158138
Ensembl ID:
ZFIN ID:
Description:
mitochondrial trifunctional protein, alpha subunit [Source:RefSeq peptide;Acc:NP_001082906]
Human Orthologue:
HADHA
Human Description:
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), a
Mouse Orthologue:
Hadha
Mouse Description:
hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trif
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17706 | Nonsense | Available for shipment | Available now |
sa11167 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17706
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076009 | Nonsense | 124 | 763 | 5 | 20 |
The following transcripts of ENSDARG00000060594 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 17 (position 37399061)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 37283958 |
GRCz11 | 17 | 37231543 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTAAGGCCTGYAAGACCGCAGAGGAGGTCASTGGTCTTTCTCAAGAGGGY[C/T]AGAGGATGTTTGAGAAGATYGAGAAGTCYCCTAAGCCAATTGTTGCTGCY
Long Flanking Sequence:
CCTCCATCTCTAATCAAACACAGCTGATCCAGCTAATCAAGGTGTTCAAGACTACTACAGACTATTAAGCAGGTTTGTGTTGGAGGTGGTTGGAGATAAACTCTGCAGAGCTGTGACCCTCTATGAATTGAGTTTGAGACCATTGGTGTAGATTTATCCATTCAGATTTCGGCAGGTTTCATTATGAGTGTTTTTGTGTTGTTGTTGTTATATTCAGGTAAACACACTCTCTGTTCAAATGCAAAAGGATATGACAGAAGTTATGGATGAGGTTTGGGGGAACAGTGCTGTCCAGAGTGTTGTTCTCATCTCATCCAAACCCGGCTGCTTCATTGCAGGAGCAGATATCAGGTAAAGATCAGTACGTTCATTAACTGCTGGTGAGTTATGATGAGCATTATCGAATGCAGTACTAATATATTTCCTGCTTTTATGCTGCATTTAGCATGATTAAGGCCTGCAAGACCGCAGAGGAGGTCACTGGTCTTTCTCAAGAGGGC[C/T]AGAGGATGTTTGAGAAGATCGAGAAGTCTCCTAAGCCAATTGTTGCTGCTATTAATGGATCGTGCCTTGGTGGAGGATTAGAGGTACTACTGTCCAAATATCAAACACAGTATGCAAATGACTTATGTATACTAACAAATATTTAACAAGACATATAGAAGGTTAGTTCAGGCTTTACTGTAAATTTCTGATCTAAAGTTTTTTGGTTATTTGGTTTGACTATGCATTAAATGAATTATACAAGCAATAAGCTAAATAAAATTTGCCCCAAGAAACTTGACTACAGAGACTCAGAAGGGATGTGATCGTGGGGAAAAAATGGGTGGGAGGAAAAAAATTCAAGGAATATATATTTTAAGTTTGTGTGTTTCTTCGCACTTCCCGTTCACTTCATACCCGTCAGTCCTCCCATTTTTGCCAGGATTCACCTGTATTTTACCATTTTATCCATCTATCATCGTATCATTATGTATTTTCCCATATTTCTCATATATTTTTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11167
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076009 | Essential Splice Site | 191 | 763 | None | 20 |
The following transcripts of ENSDARG00000060594 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 17 (position 37402124)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 37287021 |
GRCz11 | 17 | 37234606 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCGGCCTGCTGCCCGGAGCTGGAGGAACACAGAGACTCCCCAAAATGG[T/A]TTGTAATTTGWCGTAATTAGTGATAATTCTCTTGATCAGTTCTCRTTGTG
Long Flanking Sequence:
TTGTTTGGTATGTTTTAGCATATTGTATCATACTAGCATGATTAAGCACGTTGCTAGCATGAATTTAGTGCATAAATTGCACGATTTAGCACTCTATTAGCATGATGTTTCTTCCTTGCATGTCTAAATTATACTAACATGGGTCGGCATATTGCTAACTTTTTTTGCATGCTCTTAGCTTTTTTGATATTATACTAGTAAAAAGTTGCCTGCTTTTAGCATGTCTATTTCATGTGATAACAAATGGCAAACGCTTAAACATGAATTAGCATGTTATAGATTATGCTAGCTAGCATGTTACACATTTGTTTGTATGTGTAGTTTGTATCCTGAATCTACAGAAAATCTCTCGTTGATGATGGGTTTTGTGTGTTTGTAGTTTGTCATTGCCTGTCAGTACAGAATAGCCACCAAGAGTAAGAAGACGGTTCTGGGCTGTCCAGAGGTCATGCTCGGCCTGCTGCCCGGAGCTGGAGGAACACAGAGACTCCCCAAAATGG[T/A]TTGTAATTTGACGTAATTAGTGATAATTCTCTTGATCAGTTCTCGTTGTGCTGGTTTTTACACTTTTGTTTTTGTGTAGCTTGGTCTTCCCAGTGCCTTTGATGTAATGCTGACAGGACGGAGTATCCGTGCAGATAAAGCCAAGAAAATGGGCCTGGTTCATCAGCTGGTGGATACTCTCGGTAAAACAGATCCTCTACTGTGCAGTTGTGTGTAAGATGTATGCGCACAATCTGCCATTTATAAGTTTTAGTTTTTTCATGAAGATATTATTTTATGTTTGATAGAATGCTTTTCTTTACAGCAAGGCTGTGTTTATATTATTTAAAGGTGTAGTTCACCCTAAATTGAACATTTCTTCATTATTTACTTACACTCAAGTAATCCTTTCTTTTTAATGTCTTCTGTTGTGCACACAACAGATATTATGTTGAAGTTGTATCAAGAATTATCGAAAGAAAAAATACTATGCAGGCTAGTGGCTGTTTTTTCTCCAACAT
Associated Phenotype:
Not determined