RGD:150512626 Rat Genome Database

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Variant: RGD:150512626 -  Homo sapiens

RGD ID: 150512626
RS ID: rs1529909
ClinVar ID: CV1213012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 64,365,943
GRCh38 11 64,598,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153378.3:c.168-45T>C
NM_001276327.2:c.507-45T>C
NM_001276326.2:c.729-45T>C
NM_144585.4:c.831-45T>C
More... 		11/12/2018 intron variant benign none provided; Renal hypouricemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A12
Accession:NM_001276326
Location:INTRON

Gene Symbol:SLC22A12
Accession:XM_006718431
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_153378
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_144585
Location:INTRON

Gene Symbol:SLC22A12
Accession:NM_001276327
Location:INTRON

Gene Symbol:SLC22A12
Accession:XM_006718430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001598244 CLINVAR
  RCV001807436 CLINVAR
dbSNP (RS) rs1529909 CLINVAR
MedGen C0473219 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC22A12 CLINVAR
OMIM 220150 CLINVAR
  607096 CLINVAR
SNOMED CT 236478009 CLINVAR