OMIA 002038-9913 : Abortion (embryonic lethality), RNF20-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RNF20||ring finger protein 20||Bos taurus||8||NC_037335.1 (91277019..91302627)||RNF20||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|
|Holstein-Friesian||Abortion (embryonic lethality), RNF20||RNF20||nonsense (stop-gain)||UMD3.1||8||g.92930920A>T||c.2077A>T||p.K693*||2016||27646536||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2016||Charlier, C., Li, W., Harland, C., Littlejohn, M., Coppieters, W., Creagh, F., Davis, S., Druet, T., Faux, P., Guillaume, F., Karim, L., Keehan, M., Kadri, N.K., Tamma, N., Spelman, R., Georges, M. :|
|NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock. Genome Res 26:1333-1341, 2016. Pubmed reference: 27646536. DOI: 10.1101/gr.207076.116.|
- Created by Frank Nicholas on 01 Sep 2016