OMIA 001176-9940 : Porphyria cutanea tarda in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|urod||uroporphyrinogen decarboxylase||Ovis aries||1||NC_056054.1 (19663992..19667360)||urod||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||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|
|German Blackface||Porphyria cutanea tarda||urod||missense||Naturally occurring variant||Oar_rambouillet_v1.0||1||g.20327971T>C||c.392T>C||p.(L131P)||Oar_v3.1 position is g.19437840T>C; protein and cDNA positions are based on NP_001012341.1 and NM_001012341.1, respectively||rs429214636||2005||16026339||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
|2005||Nezamzadeh, R., Seubert, A., Pohlenz, J., Brenig, B. :|
|Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria. Anim Genet 36:297-302, 2005. Pubmed reference: 16026339. DOI: 10.1111/j.1365-2052.2005.01301.x.|
- Created by Frank Nicholas on 15 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Dec 2012
- Changed by Frank Nicholas on 28 Sep 2015
- Changed by Frank Nicholas on 11 Aug 2016
- Changed by Frank Nicholas on 12 Dec 2017