4 variant records found
|[show instead phene records]|
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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||OMIA Phene-Species ID(s)||Species Name||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Deleterious?||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|724||OMIA001695-8090||Japanese medaka||Reduced scale-3||edar||insertion, gross (>20)||Naturally occurring variant||yes||"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|
|1152||OMIA002237-8090||Japanese medaka||Few melanophore||kitlga||insertion, gross (>20)||Naturally occurring variant||no||Otsuki et al. (2020): "the phenotype of fm medaka is attributable to insertion of a Tcb1-like transposon at the kitlga locus"||2020||31757930|
|746||OMIA001821-8090||Japanese medaka||Coat colour, albinism, oculocutaneous type IV||slc45a2||complex rearrangement||Naturally occurring variant||yes||an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp||2008||18245373|
|723||OMIA000202-8090||Japanese medaka||Coat colour, albinism||tyr||insertion, gross (>20)||Naturally occurring variant||yes||a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase||1995||8552044|
|Total number of variants||4|
|Variants with genomic location||0 (0.0% )|
|Variants in a variant database, i.e. with rs ID||0 (0.0%)|
|insertion, gross (>20)||3||75.0%|
|Year First Reported||Count||Percent|