OMIA 002288-9913 : Mandibulofacial dysostosis in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
CYP26C1 | cytochrome P450, family 26, subfamily C, polypeptide 1 | Bos taurus | 26 | NC_037353.1 (14403428..14411708) | CYP26C1 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereford | Mandibulofacial dysostosis | CYP26C1 | missense | ARS-UCD1.2 | 26 | g.14404993T>C | p.(L188P) | ss7148511443 | 2020 | 33105751 |
Reference
2020 | Sieck, R.L., Fuller, A.M., Bedwell, P.S., Ward, J.A., Sanders, S.K., Xiang, S.H., Peng, S., Petersen, J.L., Steffen, D.J. : | |
Mandibulofacial Dysostosis Attributed to a Recessive Mutation of <i>CYP26C1</i> in Hereford Cattle. Genes (Basel) 11:1246, 2020. Pubmed reference: 33105751. DOI: 10.3390/genes11111246. |
Edit History
- Created by Frank Nicholas on 23 Oct 2020
- Changed by Frank Nicholas on 23 Oct 2020