OMIA 000852-9925 : Casein, alpha-S1, reduced concentration in Capra hircus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CSN1S1||casein alpha s1||Capra hircus||6||NC_030813.1 (85978463..85995270)||CSN1S1||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|
|Casein, alpha-S1, reduced concentration||CSN1S1||insertion, gross (>20)||"a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon."||1994||7926797|
|1994||Perez, M.J., Leroux, C., Bonastre, A.S., Martin, P. :|
|Occurrence of a LINE sequence in the 3' UTR of the goat alpha(s1)-casein E-encoding allele associated with reduced protein synthesis level Gene 147:179-187, 1994. Pubmed reference: 7926797.|
- Created by Frank Nicholas on 17 Nov 2005
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012