OMIA 001695-8090 : Reduced scale-3 in Oryzias latipes
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|edar||ectodysplasin A receptor||Oryzias latipes||21||NC_019879.2 (18057139..18020379)||edar||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|
|724||Reduced scale-3||edar||insertion, gross (>20)||Naturally occurring variant||"several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized"||2001||11516953|
|2001||Kondo, S., Kuwahara, Y., Kondo, M., Naruse, K., Mitani, H., Wakamatsu, Y., Ozato, K., Asakawa, S., Shimizu, N., Shima, A. :|
|The medaka rs-3 locus required for scale development encodes ectodysplasin-A receptor. Curr Biol 11:1202-6, 2001. Pubmed reference: 11516953. DOI: 10.1016/S0960-9822(01)00324-4.|
- Created by Frank Nicholas on 29 Jun 2012