OMIA 001876-9615 : Progressive retinal atrophy, Basenji in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SAG||S-antigen; retina and pineal gland (arrestin)||Canis lupus familiaris||25||NC_051829.1 (45060350..45103430)||SAG||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|
|Basenji||Progressive retinal atrophy, Basenji||SAG||extension (stop-lost)||CanFam3.1||25||g.44843440T>C||c.1216T>C||p.*405Rext*25||2013||24019744||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2013||Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. :|
|A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed reference: 24019744.|
|2006||Goldstein, O., Zangerl, B., Pearce-Kelling, S., Sidjanin, D.J., Kijas, J.W., Felix, J., Acland, G.M., Aguirre, G.D. :|
|Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-50, 2006. Pubmed reference: 16859891. DOI: 10.1016/j.ygeno.2006.05.013.|
- Created by Frank Nicholas on 03 Sep 2013
- Changed by Frank Nicholas on 03 Sep 2013
- Changed by Frank Nicholas on 28 Aug 2016