OMIA 001772-9615 : Skeletal dysplasia 2 (SD2) in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL11A2||collagen, type XI, alpha 2||Canis lupus familiaris||12||NC_006594.3 (2656680..2626829)||COL11A2||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|
|Labrador Retriever||Skeletal dysplasia 2 (SD2)||COL11A2||missense||CanFam3.1||12||g.2652874G>C||c.143G>C||p.R48P||2013||23527306||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2013||Frischknecht, M., Niehof-Oellers, H., Jagannathan, V., Owczarek-Lipska, M., Drögemüller, C., Dietschi, E., Dolf, G., Tellhelm, B., Lang, J., Tiira, K., Lohi, H., Leeb, T. :|
|A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One 8:e60149, 2013. Pubmed reference: 23527306. DOI: 10.1371/journal.pone.0060149.|
- Created by Tosso Leeb on 18 Apr 2013
- Changed by Tosso Leeb on 18 Apr 2013
- Changed by Tosso Leeb on 23 Apr 2013
- Changed by Tosso Leeb on 29 Apr 2013