|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:Ala111Thr
|
gptkb:rs1426654
|
|
gptkbp:alternativeName
|
gptkb:NCKX5
gptkb:Sodium/potassium/calcium_exchanger_5
gptkb:Solute_carrier_family_24_member_5
|
|
gptkbp:associatedWith
|
human evolution
skin pigmentation
adaptation to UV radiation
|
|
gptkbp:discoveredBy
|
gptkb:Keith_Cheng
|
|
gptkbp:discoveredIn
|
2005
|
|
gptkbp:encodes
|
gptkb:NCKX5
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000188467
199692
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
|
|
gptkbp:frequency
|
European populations
|
|
gptkbp:fullName
|
gptkb:solute_carrier_family_24_member_5
|
|
gptkbp:function
|
potassium-dependent sodium/calcium exchanger
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:17392
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC24A5
|
|
gptkbp:length
|
372 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
15q21.1
|
|
gptkbp:lowFrequencyIn
|
gptkb:East_Asian_populations
gptkb:African_populations
|
|
gptkbp:mutationAssociatedWith
|
lighter skin pigmentation
|
|
gptkbp:OMIM
|
609802
|
|
gptkbp:orthologInMouse
|
gptkb:Slc24a5
|
|
gptkbp:orthologInZebrafish
|
gptkb:golden_gene
|
|
gptkbp:relatedTo
|
albinism
melanin biosynthesis
|
|
gptkbp:rsID
|
gptkb:rs1426654
|
|
gptkbp:UniProtID
|
gptkb:Q6TCH7
|
|
gptkbp:variant
|
Ala111Thr
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15q21.2
|
|
gptkbp:bfsLayer
|
7
|