Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:SNP
|
gptkbp:allele1 |
A
|
gptkbp:allele2 |
T
|
gptkbp:aminoAcidChange |
Ile129Phe
|
gptkbp:associatedWith |
secretor status
FUT2 non-secretor phenotype |
gptkbp:chromosomalPosition |
19q13.33
|
gptkbp:dbSNPID |
gptkb:rs1047781
|
gptkbp:frequencyInEastAsian |
high
|
gptkbp:frequencyInEuropean |
low
|
gptkbp:hasAllele |
T
|
https://www.w3.org/2000/01/rdf-schema#label |
rs1047781
|
gptkbp:locatedOnChromosome |
gptkb:FUT2
19 |
gptkbp:mutationAssociatedWith |
nonsynonymous
|
gptkbp:referenceAllele |
A
|
gptkbp:referenceGenome |
gptkb:GRCh38
|
gptkbp:significance |
affects susceptibility to norovirus infection
affects vitamin B12 absorption |
gptkbp:bfsParent |
gptkb:FUT2_gene
|
gptkbp:bfsLayer |
7
|