3 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.
|OMIA ID(s)||Species Name||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Deleterious?||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|OMIA 001695-8090||Japanese medaka||Reduced scale-3||edar||insertion, gross (>20)||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|
|OMIA 001821-8090||Japanese medaka||Coat colour, albinism, oculocutaneous type IV||slc45a2||complex rearrangement||yes||an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp||2008||18245373|
|OMIA 000202-8090||Japanese medaka||Coat colour, albinism||tyr||insertion, gross (>20)||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||3|
|Variants with genomic location||0 (0.0% )|
|Variants in a variant database, i.e. with rs ID||0 (0.0%)|
|insertion, gross (>20)||2||66.7%|
|Year First Reported||Count||Percent|