RGD:11651677 Rat Genome Database

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Variant: RGD:11651677 -  Homo sapiens

RGD ID: 11651677
RS ID: rs886048458
ClinVar ID: CV321208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 64,369,666
GRCh38 11 64,602,194
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008110.1:g.16385A>G
NC_000011.10:g.64602194A>G
NC_000011.9:g.64369666A>G
NM_001276326.2:c.*643A>G
More...
06/14/2016 3 prime utr variant uncertain significance Renal hypouricemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A12
Accession:NM_001276327
Location:3UTRS;EXON

Gene Symbol:SLC22A12
Accession:NM_153378
Location:3UTRS;EXON

Gene Symbol:SLC22A12
Accession:XM_006718431
Location:3UTRS;EXON

Gene Symbol:SLC22A12
Accession:NM_144585
Location:3UTRS;EXON

Gene Symbol:SLC22A12
Accession:NM_001276326
Location:3UTRS;EXON

Gene Symbol:SLC22A12
Accession:XM_006718430
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300197 CLINVAR
dbSNP (RS) rs886048458 CLINVAR
MedGen C0473219 CLINVAR
NCBI Gene SLC22A12 CLINVAR
OMIM 220150 CLINVAR
  607096 CLINVAR
SNOMED CT 236478009 CLINVAR