OMIA 001623-9925 : Casein, alpha-S2, absence in Capra hircus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CSN1S2||casein alpha s2||Capra hircus||-||no genomic information (-..-)||CSN1S2||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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||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|
|907||Casein, alpha-S2, absence||CSN1S2||nonsense (stop-gain)||Naturally occurring variant||ARS1||6||g.86085134G>A||c.763G>A||p.(T110*)||rs268293093||rs268293093||2001||11419340||The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries|
|2001||Ramunno, L., Longobardi, E., Pappalardo, M., Rando, A., Di Gregorio, P., Cosenza, G., Mariani, P., Pastore, N., Masina, P. :|
|An allele associated with a non-detectable amount of alpha s2 casein in goat milk. Anim Genet 32:19-26, 2001. Pubmed reference: 11419340.|
- Created by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012