OMIA 002036-9913 : Abortion (embryonic lethality), TTF1-related in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TTF1 | transcription termination factor, RNA polymerase I | Bos taurus | 11 | NC_037338.1 (102480319..102450964) | TTF1 | Homologene, Ensembl, NCBI gene |
Variants
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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), TTF1 | TTF1 | nonsense (stop-gain) | UMD3.1 | 11 | g.102498942G>A | c.1579G>A | p.R527* | rs715966442 | 2016 | 27646536 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
Reference
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. |
Edit History
- Created by Frank Nicholas on 01 Sep 2016
- Changed by Frank Nicholas on 01 Sep 2016