OMIA 001879-9615 : Cystinuria, type II - A in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SLC3A1 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | Canis lupus familiaris | 10 | NC_051814.1 (47580243..47618780) | SLC3A1 | 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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Australian Cattle Dog | Cystinuria, type II - A | SLC3A1 | deletion, small (<=20) | c.1095_1100del | p.Thr366_Thr367del | 2013 | 24001348 |
Reference
2013 | Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. : | |
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176. |
Edit History
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013