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4 variant records found

[show instead phene records]

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 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
1321 OMIA002200-9915 zebu Brahman Nellore Darkness of hair coat ASIP delins, gross (>20) Naturally occurring variant unknown 13 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021) 2021 33910501
190 OMIA001473-9915 zebu Brahman Dwarfism, growth-hormone deficiency GH1 missense Naturally occurring variant yes c.641C>T p.(T200M) Bos indicus cDNA position based on AF034386, protein position based on AAB92549 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1350 OMIA001199-9915 zebu Guzerat Red MC1R deletion, small (<=20) Naturally occurring variant no c.311delT p.(G104Vfs*) 2021 34555208
1351 OMIA001199-9915 zebu Sahiwal Red MC1R missense Naturally occurring variant no c.844C>A p.(T281 N) 2021 33512595
Overall Statistics
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%)
Variant Type Count Percent
deletion, small (<=20) 1 25.0%
delins, gross (>20) 1 25.0%
missense 2 50.0%
Year First Reported Count Percent
2009 1 25.0%
2010 0 0.0%
2011 0 0.0%
2012 0 0.0%
2013 0 0.0%
2014 0 0.0%
2015 0 0.0%
2016 0 0.0%
2017 0 0.0%
2018 0 0.0%
2019 0 0.0%
2020 0 0.0%
2021 3 75.0%