OMIA 002175-9796 : Curly coat with hypotrichosis in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SP6||Sp6 transcription factor||Equus caballus||11||NC_009154.3 (24099790..24093883)||SP6||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|
|1040||American Bashkir Curly horse Missouri Foxtrotter||Curly coat with/without hypotrichosis||SP6||missense||Naturally occurring variant||EquCab3.0||11||g.24096309C>T||c.1090G>A||p.(D364N)||Thomer et al. (2018): "SP6; NC_009154.2:g.24022045C>T, ss3021042887" with respect to EquCab2. Updated coordinates in this entry obtained from EVA rs1095048852; 14 Mar 2019||rs1095048852||rs1095048852||2018||29686323|
|2018||Thomer, A., Gottschalk, M., Christmann, A., Naccache, F., Jung, K., Hewicker-Trautwein, M., Distl, O., Metzger, J. :|
|An epistatic effect of KRT25 on SP6 is involved in curly coat in horses. Sci Rep 8:6374, 2018. Pubmed reference: 29686323. DOI: 10.1038/s41598-018-24865-3.|
- Created by Frank Nicholas on 14 Mar 2019
- Changed by Frank Nicholas on 14 Mar 2019