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Link to this search: https://omia.org/results/?gb_species_id=9793&result_type=variant&search_type=advanced

8 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 Year Published PubMed ID(s) Acknowledgements
149 OMIA:000201-9793 ass (donkey) Âne de Provence, France (Ass) Âne normand, France (Ass) Dezhou, China (Ass) Miniature, United States of America (Ass) No light points ASIP NLP missense Naturally occurring variant no ASM1607732v2 15 NC_052191.1:g.25406489T>C XM_044748287.1:c.349T>C XP_044604222.1:p.(C117R) The Dezhou reference genome ASM1607732v2 represents the 'no light points' variant: NC_052191.1:g.25406489C

2015 25887951
347 OMIA:000439-9793 ass (donkey) Âne de Provence, France (Ass) Âne des Pyrénées, France (Ass) Âne grand noir du Berry, France (Ass) Âne normand, France (Ass) Hair, long FGF5 nonsense (stop-gain) Naturally occurring variant no ASM1607732v2 3 NC_052179.1:g.161373495G>A XM_014836312.2:c.245G>A XP_014691798.1:p.W82* 2014 25927731
560 OMIA:000439-9793 ass (donkey) Âne Bourbonnais, France (Ass) Âne des Pyrénées, France (Ass) Âne normand, France (Ass) Poitou (Ass) Hair, long FGF5 deletion, small (<=20) Naturally occurring variant no ASM1607732v2 3 NC_052179.1:g.161381098_161381099del XM_014836312.2:c.433_434del XP_014691798.1:p.M145Vfs*15 2014 25927731
150 OMIA:000209-9793 ass (donkey) Coat colour, dominant white KIT W missense Naturally occurring variant no ASM1607732v2 3 NC_052179.1:g.139882496A>C XM_014853517.2:c.662A>C XP_014709003.2:p.(Y221S)

2015 25818843
405 OMIA:001737-9793 ass (donkey) Coat colour, white spotting, due to KIT KIT Ws splicing Naturally occurring variant no ASM1607732v2 3 NC_052179.1:g.139911533T>A XM_014853517.2:c.1978+2T>A 2015 25818843
996 OMIA:001199-9793 ass (donkey) Âne de Provence, France (Ass) Âne des Pyrénées, France (Ass) Âne normand, France (Ass) Miniature, United States of America (Ass) Coat colour, red MC1R e missense Naturally occurring variant no ASM1607732v2 28 NC_052204.1:g.63570188T>C XM_014836533.2:c.629T>C XP_014692019.1:p.(M210T) 2014 25155046
1277 OMIA:001972-9793 ass (donkey) Coat colour, dun TBX3 D insertion, small (<=20) Naturally occurring variant no ASM1607732v2 8 NC_052184.1:42737976_42737977insT Wang et al. (2020) report 'non-dun' as a "1 bp deletion (chr8:g.42742556 CT>C−) located ~18.6 kb downstream of the transcription start site of the TBX3 gene." The reference genome ASM1607732v2 represents the non-dun allele and information has been changed in the table to report the coordinates for the dun allele [05/06/2024]

     


 
2020 33293529
151 OMIA:000202-9793 ass (donkey) Coat colour, albinism TYR missense Naturally occurring variant yes ASM1607732v2 20 NC_052196.1:58132615G>C XM_014827959.2:c.616C>G XP_014683445.2:p.(H206D) Published as c.604C>G, p.(H202D) - coordinates in the table were updated to reflect the recent reference genome




2016 26763160
Overall Statistics
Total number of variants 8
Variants with genomic location 8 (100.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, small (<=20) 1 12.5%
insertion, small (<=20) 1 12.5%
missense 4 50.0%
nonsense (stop-gain) 1 12.5%
splicing 1 12.5%
Year First Reported Count Percent
2014 3 37.5%
2015 3 37.5%
2016 1 12.5%
2017 0 0.0%
2018 0 0.0%
2019 0 0.0%
2020 1 12.5%