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.

Advanced Search

Field

Term

Summary Table

Your research retrieved 5 results.

Summary
Others

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
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Linkage Mapping	Enattah NS; Sahi T; Savilahti E ; et al. (2002) Identification of a variant associated with adult-type hypolactasia. 1 Additional References Tishkoff SA; Reed FA; Ranciaro A (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000529	LCT P09848	Physiology	C-13910T	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000530	LCT P09848	Physiology	C-13907G	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe.	GP00000531	LCT P09848	Physiology	T-13915G	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species)	Intraspecific	Association Mapping	Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007) Convergent adaptation of human lactase persistence in Africa and Europe. 1 Additional References Breton G; Schlebusch CM; Lombard M (2014) Lactase persistence alleles reveal partial East African ancestry of southern African Khoe pastoralis[...]	GP00000532	LCT P09848	Physiology	G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C	Homo sapiens human - (species)	Homo sapiens human - (species)	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator
lactase (LCT)	Lactose tolerance (adult)	Cis-regulatory, SNP	Homo sapiens human - (species) D	Intraspecific	Association Mapping	Jones BL; Raga TO; Liebert A ; et al. (2013) Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep. 1 Additional References Liebert A; Jones BL; Danielsen ET (2016) In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Differ[...]	GP00001714	LCT P09848	Physiology	T14009G (rs869051967) (ss 820486563)	Homo sapiens human - (species)	Homo sapiens human - (species) D	lactase (LCT)	Homo sapiens human - (species)	Published - Accepted by Curator