ZMP
echs1
Ensembl ID:
ZFIN ID:
Description:
enoyl-CoA hydratase, mitochondrial [Source:RefSeq peptide;Acc:NP_001004529]
Human Orthologue:
ECHS1
Human Description:
enoyl CoA hydratase, short chain, 1, mitochondrial [Source:HGNC Symbol;Acc:3151]
Mouse Orthologue:
Echs1
Mouse Description:
enoyl Coenzyme A hydratase, short chain, 1, mitochondrial Gene [Source:MGI Symbol;Acc:MGI:2136460]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22292 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22292
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000001830 | Essential Splice Site | 97 | 291 | 3 | 8 |
Genomic Location (Zv9):
Chromosome 13 (position 24804533)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 24450193 |
| GRCz11 | 13 | 24580643 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTATTGAACTGATTTGAAACTGTTGTTGTGTGTTTTATCTGCTTTGATA[G/A]CTGGTGCTGACATTAAAGAGATGCAGAATCGAACCTTCCAAGAGTGTTAT
Long Flanking Sequence:
GTGCTATGGTAAGCTAATTTTATAACAGGCCCACGGGCAACTCATGTGATCCTCAGGGGCACCATGTTGGTGACCCCTGTCTTAATGAGATTATTAGGGATATCTCCAGAATTAAAAGCTGAGTCAGCAATGCTGAGATCATGTATTTTTTATAATCATTTATTAAAAATCATATGGAGCCAGTGTGAGTTACTTTGACCCTTACCTTCATGTCTTTTGCAGGTGTCCAGTATGAGTACATTCTGGTGGACAAAAAGGGTGAAAAGAAGAATGTTGGCTTCATCCAGCTGAACAGACCAAAGGCCCTGAATGCTCTTTGTGATGGACTCATGCTGGAGGTGGGCAAAGCGCTCGATGCATTTGAGATGGACAGTGAAGTGGGAGCAATCGTCGTCACCGGGAGTGAAAAAGCCTTTGCAGGTGTGAAACTGTAGGTGAAGGCAGTTGTGTTGTATTGAACTGATTTGAAACTGTTGTTGTGTGTTTTATCTGCTTTGATA[G/A]CTGGTGCTGACATTAAAGAGATGCAGAATCGAACCTTCCAAGAGTGTTATGGTGGAAACTTCTTGGCACATTGGAACAGGGTATCAACAGTCAAGAAGCCTGTTATTGCTGCGGTCAATGGGTTTGCGGTGGGTAAATGTTTTTAATGCATTCACCTAAAAGACTTTTAACATTAATTTACATTTAGGCATAAACATAATGTCTTCTCCAGCTTGGCGGAGGATGTGAGTTTGCTATGATGTGTGACATCATCTATGCTGGAGAGAAGGCACAGTTCGGACAGCCAGAAATCCTGCTTGGGACCATTCCTGGTACAATAAAGCATCCTTTCATGATTTTTCAGATTTACAAATGACAAAGAAATATAAATGCAATACTTACAGATCACAACATTTCATCTTTGTATTGTTCCAGGTGCTGGTGGCACTCAGAGGCTTACAAGAGCAGTTGGAAAATCCCTTGCGATGGAGATGGTTCTCACTGGAGACCGAATCTCAGCC
Associated Phenotype:
Not determined