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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 12 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
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP	Homininae (subfamily)	Intraspecific	Candidate Gene	Yamamoto F; Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...] 1 Additional References Ségurel L; Thompson EE; Flutre T (2012) The ABO blood group is a trans-species polymorphism in primates.	GP00000017	ABO P16442	Physiology	Gly268 (group A) <-> Ala (group B)	Homininae (subfamily)	Homininae (subfamily)	ABO histo blood group glycosyltransferase	Homininae (subfamily)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP	Homininae (subfamily)	Intraspecific	Candidate Gene	Yamamoto F; Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...] 1 Additional References Ségurel L; Thompson EE; Flutre T (2012) The ABO blood group is a trans-species polymorphism in primates.	GP00000018	ABO P16442	Physiology	Leu266 (group A) <-> Met (group B)	Homininae (subfamily)	Homininae (subfamily)	ABO histo blood group glycosyltransferase	Homininae (subfamily)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Yamamoto F; Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid [...] 1 Additional References Calafell F; Roubinet F; Ramírez-Soriano A (2008) Evolutionary dynamics of the human ABO gene.	GP00000019	ABO P16442	Physiology	1bp deletion (258G) resulting in frameshift N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Yamamoto F; McNeill PD; Yamamoto M ; et al. (1993) Molecular genetic analysis of the ABO blood group system: 4. Another type of O allele. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000020	ABO P16442	Physiology	Arg176+Gly268 (group A) <-> Gly176+Arg268 (group O03 = weak AB allele rather than complete loss-of-function) two nucleotide substitutions at nt. 526 and nt. 802. The authors have not examined whether both amino acid substitutions are necessary to disrupt the enzymatic activity or if one of them is sufficient. Nevertheless they assume that the single amino acid substitution at aa. 268 (glycine+arginine) may be crucial for their nullifying effect.	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Insertion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000021	ABO P16442	Physiology	1bp insertion resulting in premature stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species) D	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005) New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes. 1 Additional References Yazer MH; Hosseini-Maaf B; Olsson ML (2008) Blood grouping discrepancies between ABO genotype and phenotype caused by O alleles.	GP00000022	ABO P16442	Physiology	1bp change resulting in stop codon N	Homo sapiens human - (species)	Homo sapiens human - (species)	ABO histo blood group glycosyltransferase	Homo sapiens human - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Coding, Unknown	Pan troglodytes chimpanzee - (species)	Intraspecific	Candidate Gene	Kermarrec N; Roubinet F; Apoil PA ; et al. (1999) Comparison of allele O sequences of the human and non-human primate ABO system.	GP00000023	ABO P16442	Physiology	Uncertain; possibly 9bp deletion resultin in 3a.a. deletion	Pan troglodytes chimpanzee - (species)	Pan troglodytes chimpanzee - (species)	ABO histo blood group glycosyltransferase	Pan troglodytes chimpanzee - (species)	Published - Accepted by Curator
ABO histo blood group glycosyltransferase	ABO antigen blood type	Unknown, Unknown	Pan troglodytes chimpanzee - (species)	Intraspecific	Candidate Gene	Kermarrec N; Roubinet F; Apoil PA ; et al. (1999) Comparison of allele O sequences of the human and non-human primate ABO system.	GP00000024	ABO P16442	Physiology	unknown	Pan troglodytes chimpanzee - (species)	Pan troglodytes chimpanzee - (species)	ABO histo blood group glycosyltransferase	Pan troglodytes chimpanzee - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Pang H; Fujitani N; Soejima M (2000) Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi[...]	GP00000379	FUT2 Q10981	Physiology	9.3 kb deletion mediated by recombination between Alu sequences N	Homo sapiens human - (species)	Homo sapiens human - (species) D	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, Deletion N	Homo sapiens human - (species) D	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 2 Additional References Pang H; Fujitani N; Soejima M (2000) Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi[...] Koda Y; Soejima M; Johnson PH (2000) An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype.	GP00000380	FUT2 Q10981	Physiology	10 kb deletion mediated by recombination between Alu sequences N	Homo sapiens human - (species)	Homo sapiens human - (species) D	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, SNP N	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	GP00000381	FUT2 Q10981	Physiology	premature stop at codon 143: TGG>TGA N	Homo sapiens human - (species)	Homo sapiens human - (species)	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator
FUT2	ABO antigen blood type	Coding, SNP	Homo sapiens human - (species)	Intraspecific	Candidate Gene	Kelly RJ; Rouquier S; Giorgi D ; et al. (1995) Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransfera[...] 1 Additional References Ferrer-Admetlla A; Sikora M; Laayouni H (2009) A natural history of FUT2 polymorphism in humans.	GP00000382	FUT2 Q10981	Physiology	Ile129Phe	Homo sapiens human - (species)	Homo sapiens human - (species)	FUT2	Homo sapiens human - (species)	Published - Accepted by Curator