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rs5558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) None
(T;G) None
(T;T) 0 normal
Make rs5558(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position55699647
GeneSLC6A2
is asnp
is mentioned by
dbSNPrs5558
dbSNP (classic)rs5558
ClinGenrs5558
ebirs5558
HLIrs5558
Exacrs5558
Gnomadrs5558
Varsomers5558
LitVarrs5558
Maprs5558
PheGenIrs5558
Biobankrs5558
1000 genomesrs5558
hgdprs5558
ensemblrs5558
geneviewrs5558
scholarrs5558
googlers5558
pharmgkbrs5558
gwascentralrs5558
openSNPrs5558
23andMers5558
SNPshotrs5558
SNPdbers5558
MSV3drs5558
GWAS Ctlgrs5558
Max Magnitude0
? (G;G) (G;T) (T;T) 28


rs5558 (F528C) is a non-synonymous SNP in SLC6A2 (norepinephrine transporter), with a T encoding for Phenylalanine and C encoding the rare Cysteine variant.

[PMID 19105200] assoc. w/ major depression

[PMID 15894713] Cysteine variant exhibited increased norepinephrine transport, insensitivity to protein kinase C induced down-regulation, and a decrease in desipramine (tricyclic antidepressant) potency


[PMID 21172166OA-icon.png] Pharmacogenetics of antidepressant response.