OMIA 000256-9685 : Cystinuria, type I - A in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC3A1||solute carrier family 3 (amino acid transporter heavy chain), member 1||Felis catus||A3||NC_018725.3 (66509073..66546117)||SLC3A1||Homologene, Ensembl, NCBI gene|
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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|
|Domestic shorthair||Cystinuria, type I - A||SLC3A1||missense||Felis_catus_6.2||A3||g.66470414C>T||c.1342C>T||p.R448W||2015||25417848||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2015||Mizukami, K., Raj, K., Giger, U. :|
|Feline cystinuria caused by a missense mutation in the SLC3A1 gene. J Vet Intern Med 29:120-5, 2015. Pubmed reference: 25417848. DOI: 10.1111/jvim.12501.|
- Created by Frank Nicholas on 04 Aug 2016
- Changed by Frank Nicholas on 04 Aug 2016