Gene Name :
ABO
Gene Id :
ENSG00000175164
Protein Id :
P16442
Variant details
Gene Alias : | "A3GALNT, A3GALT1" | ||||||||||||||
ISBT Version : | v1.1 171023 | ||||||||||||||
Variant phenotype : | O | ||||||||||||||
Phenotype category : | NA | ||||||||||||||
Phenotype Description : | NA | ||||||||||||||
Variant Type : | Single Nucleotide Variation | ||||||||||||||
Reference Allele name : | ABO*A1.01 | ||||||||||||||
Allele name : | ABO*O.02.01 | ||||||||||||||
Reference allele : | C | ||||||||||||||
Alternate allele : | A | ||||||||||||||
Nucleotide_Change : | c.53G>T | ||||||||||||||
Protein Change : | p.Arg18Leu | ||||||||||||||
HGVS nomenclature : |
|
||||||||||||||
External Variation ID : | rs1008708453 |
Gene Alias :
"A3GALNT, A3GALT1"
ISBT Version :
v1.1 171023
Variant phenotype :
O
Phenotype category :
NA
Phenotype Description :
NA
Variant Type :
Single Nucleotide Variation
Reference Allele name :
ABO*A1.01
Allele name :
ABO*O.02.01
Reference allele :
C
Alternate allele :
A
Nucleotide Change :
c.53G>T
Protein Change :
p.Arg18Leu
HGVS nomenclature :
Nucleotide |
---|
NC_000009.11:g.136137547C>A |
NC_000009.12:g.133262144C>A |
Protein |
---|
NP_065202.2:p.Arg18Leu |
External Variation ID :
Global Allele Frequencies
gnomAD (v2.1.1 - Exomes) : | 0.01 | |||||
ExAC : | ||||||
ESP 6500 : | ||||||
1000 Genomes Project : | 0.01 | |||||
Greater Middle Eastern Project : | NA | |||||
Genome Asia : | ||||||
Iranome : |
gnomAD (v2.1.1 - Exomes) :
0.01
ExAC :
NA
ESP 6500 :
NA
1000 Genomes Project :
0.01
Greater Middle Eastern Project :
NA
Clinical Significance
Clinical relevance : | NA | |||||
Ancestry : | NA | |||||
Genotype Phenotype Details : | NA | |||||
Validation Status : | NA | |||||
Validation details : | NA |
Clinical relevance :
NA
Ancestry :
NA
Genotype Phenotype Details :
NA
Validation Status :
NA
Validation details :
NA