Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:SNP
|
| gptkbp:alsoKnownAs |
Hemoglobin S mutation
SNP rs334 |
| gptkbp:aminoAcidChange |
Glu6Val
A>T |
| gptkbp:associatedWith |
gptkb:sickle_cell_anemia
sickle cell disease |
| gptkbp:ClinVar |
https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/
|
| gptkbp:dbSNPID |
gptkb:rs334
|
| gptkbp:discoveredBy |
gptkb:Linus_Pauling
gptkb:James_V._Neel |
| gptkbp:effectOnProtein |
hemoglobin beta chain
|
| gptkbp:Entrez_Gene_ID |
https://www.ncbi.nlm.nih.gov/snp/rs334
|
| gptkbp:firstDescribed |
1949
|
| gptkbp:foundInPopulation |
African descent
|
| gptkbp:hasAllele |
A (normal)
T (mutant) |
| https://www.w3.org/2000/01/rdf-schema#label |
rs334
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:HBB
gptkb:11p15.5 11 |
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:OMIM |
603903.0001
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:referenceGenomePosition |
chr11:5227002
|
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:HBB_gene
|
| gptkbp:bfsLayer |
6
|