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rs386134212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386134212(C;T)
Make rs386134212(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132387065
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134212
ebirs386134212
HLIrs386134212
Exacrs386134212
Varsomers386134212
Maprs386134212
PheGenIrs386134212
hapmaprs386134212
1000 genomesrs386134212
hgdprs386134212
ensemblrs386134212
gopubmedrs386134212
geneviewrs386134212
scholarrs386134212
googlers386134212
pharmgkbrs386134212
gwascentralrs386134212
openSNPrs386134212
23andMers386134212
23andMe allrs386134212
SNP Nexus

SNPshotrs386134212
SNPdbers386134212
MSV3drs386134212
GWAS Ctlgrs386134212
Max Magnitude0
ClinVar
Risk rs386134212(T;T)
Alt rs386134212(T;T)
Reference rs386134212(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131722757C>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022357.2, RCV000186141.1,


[PMID 15714519] Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.