Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 48 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Durkin K; Coppieters W; Drögemüller C ; et al. (2012) Serial translocation by means of circular intermediates underlies colour sidedness in cattle.	GP00000514	Kit P05532	Morphology	Copy Number Variation of <600kb segments encompassing KIT	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Brooks SA; Bailey E (2005) Exon skipping in the KIT gene causes a Sabino spotting pattern in horses.	GP00000515	Kit P05532	Morphology	T->A in intron 16; leads to skipping of exon 17	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00000516	Kit P05532	Morphology	c.2151C>G pY717* N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000517	Kit P05532	Morphology	full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Indel	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	Montague MJ; Li G; Gandolfi B ; et al. (2014) Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology[...]	GP00000518	Kit P05532	Morphology	Two nucleotide changes affecting site 3 of codon 345 and site 1 of codon 346 - resulting in Glu345Asp + His346Asn c. 1035_1036delinsCA GAGCAY > GACAAY	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Felis catus domestic cat - (species) D	Domesticated	Association Mapping	David VA; Menotti-Raymond M; Wallace AC ; et al. (2014) Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]	GP00000519	Kit P05532	Morphology	Excision of the full-length FERV1 elevement leaving the two LTR residues	Felis catus domestic cat - (species)	Felis catus domestic cat - (species) D	Kit (type III receptor protein-tyrosine kinase)	Felis catus domestic cat - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. 1 Additional References Rubin CJ; Megens HJ; Martinez Barrio A (2012) Strong signatures of selection in the domestic pig genome.	GP00000520	Kit P05532	Morphology	@Splicing mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17 - the splice mutation is expected to cause a receptor with impaired or absent tyrosine kinase activity - the splice mutation corresponds to a fully dominant allele that is also homozygous lethal	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig. 3 Additional References Rubin CJ; Megens HJ; Martinez Barrio A (2012) Strong signatures of selection in the domestic pig genome. Sun G; Liang X; Qin K (2020) Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Us[...] Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00000520	Kit P05532	Morphology	gene duplication associated with a partially dominant phenotype - the duplication is most likely a regulatory mutation affecting KIT expression - the size of the duplication appears to exceed 200 kb and include the complete coding sequence	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Vulpes vulpes red fox - (species) D	Domesticated	Linkage Mapping	Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015) Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.	GP00000521	Kit P05532	Morphology	splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00001326	Kit P05532	Morphology	4.3kb duplication (DUP2) located about 100 kb upstream of KIT	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Unknown, Unknown	Vulpes vulpes red fox - (species) D	Domesticated	Association Mapping	Kukekova AV; Johnson JL; Kharlamova AV ; et al. (2016) Georgian white coat color of red fox (Vulpes vulpes) maps to fox chromosome 2 in the region containi[...]	GP00001328	Kit P05532	Morphology	unknown	Vulpes vulpes red fox - (species)	Vulpes vulpes red fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes vulpes red fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001340	Kit P05532	Morphology	c.662A>C p.Tyr221Ser	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (skin; coat)	Coding, SNP	Equus asinus ass - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Leeb T (2015) Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spott[...]	GP00001341	Kit P05532	Morphology	c.1978+2T>A in splice donor site	Equus asinus ass - (species)	Equus asinus ass - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus asinus ass - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00001344	Kit P05532	Morphology	c.1789G>A p.G597R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Brenig B; Beck J; Floren C ; et al. (2013) Molecular genetics of coat colour variations in White Galloway and White Park cattle.	GP00001345	Kit P05532	Morphology	duplication and aberrant insertion on chromosome 29	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Other, SNP	Vulpes lagopus Arctic fox - (species) D	Domesticated	Candidate Gene	Yan SQ; Hou JN; Bai CY ; et al. (2014) A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white[...]	GP00002192	Kit P05532	Morphology	dominant white coat colour of blue fox results from an exon 12 skipping caused by a c.1867+1G>T substitution in the first nucleotide of intron 12 of the KIT gene	Vulpes lagopus Arctic fox - (species)	Vulpes lagopus Arctic fox - (species) D	Kit (type III receptor protein-tyrosine kinase)	Vulpes lagopus Arctic fox - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Insertion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Candidate Gene	Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012) Strong signatures of selection in the domestic pig genome. 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002196	Kit P05532	Morphology	the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle)	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Küttel L; Letko A; Häfliger IM ; et al. (2019) A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. 1 Additional References Artesi M; Tamma N; Deckers M (2020) Colour-sidedness in Gloucester cattle is associated with a complex structural variant impacting regu[...]	GP00002197	Kit P05532	Morphology	Complex chromosomal rearragements including a ~310-kb duplication	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002198	Kit P05532	Morphology	c.706A>T p.K236* N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002199	Kit P05532	Morphology	c.1805C>T p.A602V	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Schlumbaum A ; et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.	GP00002200	Kit P05532	Morphology	c.1960G>A p.G654R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002201	Kit P05532	Morphology	c.2222-1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002202	Kit P05532	Morphology	c.1126_1129delGAAC p.E376FfsX3 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002203	Kit P05532	Morphology	c.2684+1G>A (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002204	Kit P05532	Morphology	c.338-1G>C (putative splicing site)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002205	Kit P05532	Morphology	c.2193delG p.T732QfsX9 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Brooks SA; Tozaki T ; et al. (2009) Seven novel KIT mutations in horses with white coat colour phenotypes.	GP00002206	Kit P05532	Morphology	c.856G>A p.G286R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002207	Kit P05532	Morphology	c.1597T>C p.C533R	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002208	Kit P05532	Morphology	c.2021T>C p.L674P	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002209	Kit P05532	Morphology	c.2001A>T p.E667D	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002210	Kit P05532	Morphology	c.2472+5G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002211	Kit P05532	Morphology	c.2489A>T p.K830I	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Rieder S; Tozaki T ; et al. (2011) Five novel KIT mutations in horses with white coat colour phenotypes.	GP00002212	Kit P05532	Morphology	c.2392_2445del p.H798_N815del N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002213	Kit P05532	Morphology	c.2045G>A p.R682H	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002214	Kit P05532	Morphology	c.1322A>G p.Y441C	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hauswirth R; Jude R; Haase B ; et al. (2013) Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.	GP00002215	Kit P05532	Morphology	c.1346 + 1G>A (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Haase B; Jagannathan V; Rieder S ; et al. (2015) A novel KIT variant in an Icelandic horse with white-spotted coat colour.	GP00002216	Kit P05532	Morphology	c.2369delC p.Ala790Glufs*20 N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Holl HM; Brooks SA; Carpenter ML ; et al. (2017) A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all whi[...]	GP00002217	Kit P05532	Morphology	c.756+1G>C (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Capomaccio S; Milanesi M; Nocelli C ; et al. (2017) Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Ital[...]	GP00002218	Kit P05532	Morphology	g.77736559C>T (putative splicing mutation)	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Dürig N; Jude R; Holl H ; et al. (2017) Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotte[...]	GP00002219	Kit P05532	Morphology	g.77;740;239_77;742;136del1898insTATAT ~1.9-kb deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002220	Kit P05532	Morphology	c.1473T>G p.Cys491Trp	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002221	Kit P05532	Morphology	c.2536delA p.Ser846Valfs*15	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hoban R; Castle K; Hamilton N ; et al. (2018) Novel KIT variants for dominant white in the Australian horse population.	GP00002222	Kit P05532	Morphology	c.668T>C p.Leu223Pro	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Hug P; Jude R; Henkel J ; et al. (2019) A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.	GP00002223	Kit P05532	Morphology	g.79;579;925-79;581;197del 1273bp deletion N	Equus caballus horse - (species)	Equus caballus horse - (species) D	Kit (type III receptor protein-tyrosine kinase)	Equus caballus horse - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Cis-regulatory, Deletion	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Lim HT; Zhong T; Cho IC ; et al. (2011) Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrosse[...] 1 Additional References Pielberg G; Day AE; Plastow GS (2003) A sensitive method for detecting variation in copy numbers of duplicated genes.	GP00002227	Kit P05532	Morphology	U(26) repeat in intron 5 of the KIT gene with a single G interruption likely to mediate skipping of exon 5 of the gene in some tissues including skin ; the WT allele has an U(27) repeat interrupted by 5 G	Sus scrofa domesticus domestic pig - (subspecies)	Sus scrofa domesticus domestic pig - (subspecies) D	Kit (type III receptor protein-tyrosine kinase)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat ; white-spotting)	Coding, Deletion N	Camelus dromedarius Arabian camel - (species) D	Domesticated	Candidate Gene	Holl H; Isaza R; Mohamoud Y ; et al. (2017) A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel.	GP00002229	Kit P05532	Morphology	c.1842delG p.M614IfsX5 N	Camelus dromedarius Arabian camel - (species)	Camelus dromedarius Arabian camel - (species) D	Kit (type III receptor protein-tyrosine kinase)	Camelus dromedarius Arabian camel - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Gene Amplification, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001342	Kit P05532	Morphology	serial translocations Cs6 and Cs29	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D	Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Coloration (coat)	Unknown, Complex Change	Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Zhang MQ; Xu X; Luo SJ (2014) The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).	GP00001343	Kit P05532	Morphology	haplotype Swf (indels and SNP)	Bos grunniens domestic yak - (species)	Bos grunniens domestic yak - (species) D	Kit (type III receptor protein-tyrosine kinase) [pseudoreplicate with two Bos taurus KIT entries]	Bos grunniens domestic yak - (species)	Published - Accepted by Curator