P2RY5
Hair type (woolly)
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00000817
LPAR6
P43657
Morphology
at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
Deletion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001734
LPAR6
P43657
Morphology
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001735
LPAR6
P43657
Morphology
188A>T which causes D63V N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001736
LPAR6
P43657
Morphology
562A>T which causes I188F N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator
P2RY5
Hair type (woolly)
Coding,
SNP
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00001737
LPAR6
P43657
Morphology
565G>A which causes E189K N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (species)
Published - Accepted by Curator