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 14 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
MC1R	Coloration (skin)	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Lalueza-Fox C; Römpler H; Caramelli D ; et al. (2007) A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.	GP00000630	MC1R Q01726	Morphology	Arg307Gly	Homo sapiens human - (species)	Homo sapiens human - (species)	MC1R	Homo sapiens human - (species)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, Insertion N	Sus scrofa domesticus domestic pig - (subspecies) D	Domesticated	Linkage Mapping	Kijas JM; Moller M; Plastow G ; et al. (2001) A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...] 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000631	MC1R Q01726	Morphology	2bp insertion at 23 generates early stop @ 56 & D"121"N ? N	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies) D	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000632	MC1R Q01726	Morphology	V"92"M actually at 95	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000633	MC1R Q01726	Morphology	D"121"N Actually 124	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000634	MC1R Q01726	Morphology	A"161"V actually 164	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000635	MC1R Q01726	Morphology	L"99" P Actually 102	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
MC1R	Coloration (skin)	Coding, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Kijas JM; Wales R; Törnsten A ; et al. (1998) Melanocortin receptor 1 (MC1R) mutations and coat color in pigs. 1 Additional References Liu R; Jin L; Long K (2016) Detection of genetic diversity and selection at the coding region of the melanocortin receptor 1 (MC[...]	GP00000636	MC1R Q01726	Morphology	A"240"T actually 243	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	MC1R	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Oca2	Coloration (skin)	Coding, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Edwards M; Bigham A; Tan J ; et al. (2010) Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: furth[...] 1 Additional References Yang Z; Zhong H; Chen J (2016) A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.	GP00000748	Oca2 Q62052	Morphology	His615Arg	Homo sapiens human - (species)	Homo sapiens human - (species) D	Oca2	Homo sapiens human - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (skin)	Coding, SNP	Panthera leo lion - (species) D	Intraspecific	Association Mapping	Cho YS; Hu L; Hou H ; et al. (2013) The tiger genome and comparative analysis with lion and snow leopard genomes.	GP00001346	Tyr P11344	Morphology	c.260G>A p.Arg87Gln	Panthera leo lion - (species)	Panthera leo lion - (species) D	tyrosinase (TYR)	Panthera leo lion - (species)	Published - Accepted by Curator
EIF2S2	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001359	EIF2S2 P20042	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	EIF2S2	Homo sapiens human - (species)	Published - Accepted by Curator
GSS (glutathione synthetase)	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species)	Intraspecific	Association Mapping	Liu F; Visser M; Duffy DL ; et al. (2015) Genetics of skin color variation in Europeans: genome-wide association studies with functional follo[...]	GP00001362	GSS P48637	Morphology	unknown	Homo sapiens human - (species)	Homo sapiens human - (species)	GSS (glutathione synthetase)	Homo sapiens human - (species)	Published - Accepted by Curator
IRF4	Coloration (skin)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Praetorius C; Grill C; Stacey SN ; et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...] 1 Additional References Visser M; Palstra RJ; Kayser M (2015) Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping o[...]	GP00001364	IRF4 Q15306	Morphology	a C>T substitution in intron4 located within an enhancer	Homo sapiens human - (species)	Homo sapiens human - (species) D	IRF4	Homo sapiens human - (species)	Published - Accepted by Curator
OPRM1	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001536	OPRM1 P35372	Morphology	C>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	OPRM1	Homo sapiens human - (species)	Published - Accepted by Curator
EGFR	Coloration (skin)	Unknown, Unknown	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Quillen EE; Bauchet M; Bigham AW ; et al. (2012) OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and European[...]	GP00001537	EGFR P00533	Morphology	A>T associated SNP	Homo sapiens human - (species)	Homo sapiens human - (species) D	EGFR	Homo sapiens human - (species)	Published - Accepted by Curator