OMIA 002226-9615 : Lipid malabsorption, ACSL5-related in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ACSL5 | acyl-CoA synthetase long-chain family member 5 | Canis lupus familiaris | 28 | NC_051832.1 (23970117..24011237) | ACSL5 | Homologene, Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1259 | Australian Kelpie | Intestinal lipid malabsorption | ACSL5 | deletion, gross (>20) | Naturally occurring variant | CanFam3.1 | 28 | g.23380074_23483377del | NC_006610.3CFA28:g.23380074_23483377del (O/Brien et al., 2020) | 2020 | 33106515 |
Reference
2020 | O'Brien, M.J., Beijerink, N.J., Sansom, M., Thornton, S.W., Chew, T., Wade, C.M. : | |
A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed. Sci Rep 10:18223, 2020. Pubmed reference: 33106515. DOI: 10.1038/s41598-020-75243-x. |
Edit History
- Created by Frank Nicholas on 23 Jan 2020
- Changed by Frank Nicholas on 29 Oct 2020