OMIA 002116-69293 : Coat colour, albinism, oculocutaneous, HPS5-related in Gasterosteus aculeatus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|Hps5||Gasterosteus aculeatus||-||no genomic information (-..-)||Hps5||Ensembl|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|789||Coat colour, albinism, oculocutaneous, HPS5-related||Hps5||casper||insertion, small (<=20)||Naturally occurring variant||"casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift"||2017||28739598|
|2017||Miller, C.T., Hart, J.C. :|
|Sequence-based mapping and genome editing reveal mutations in stickleback Hps5 cause oculocutaneous albinism and the casper phenotype. G3 (Bethesda) :, 2017. Pubmed reference: 28739598. DOI: 10.1534/g3.117.1125.|
- Created by Frank Nicholas on 15 Aug 2017
- Changed by Frank Nicholas on 15 Aug 2017