Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:alternativeName |
gptkb:CYP2A6*2
|
| gptkbp:aminoAcidChange |
A>T
|
| gptkbp:chromosomalPosition |
19q13.2
|
| gptkbp:dbSNPID |
gptkb:rs1801272
|
| gptkbp:effect |
loss of function
|
| gptkbp:frequency |
low in most populations
|
| https://www.w3.org/2000/01/rdf-schema#label |
rs1801272
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
gptkb:CYP2A6 |
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:significance |
affects nicotine metabolism
|
| gptkbp:bfsParent |
gptkb:CYP2A6*2_(inactive_variant)
|
| gptkbp:bfsLayer |
7
|