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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
1010 OMIA000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype Naturally occurring variant no c.[23delT;c.25G>A] KU179868; c.[23delT;c.25G>A]. As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
1343 OMIA000439-9838 Arabian camel Long hair FGF5 missense Naturally occurring variant no CamDro3 2 g.76625546C>T c.779C>T p.(P260L) cDNA and protein positions based on transcript ENSCDRT00005003721.1 2021 34432312
566 OMIA001737-9838 Arabian camel Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant no c.1842delG p.(M614Ifs*5) 2017 28282952
1009 OMIA001199-9838 Arabian camel White coat colour MC1R missense Naturally occurring variant no c.901C>T p.(R301C) KU179867; c.901C>T; p.R301C 2018 29893870
Overall Statistics
Total number of variants 4
Variants with genomic location 1 (25.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, small (<=20) 1 25.0%
haplotype 1 25.0%
missense 2 50.0%
Year First Reported Count Percent
2017 1 25.0%
2018 2 50.0%
2019 0 0.0%
2020 0 0.0%
2021 1 25.0%