RGD:15160653 Rat Genome Database

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Variant: RGD:15160653 -  Homo sapiens

RGD ID: 15160653
RS ID: rs190486100
ClinVar ID: CV744204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC36A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 150,696,654
GRCh38 5 151,317,093
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181776.3:c.1181-5T>C
NG_027745.1:g.35498T>C
NC_000005.10:g.151317093A>G
NC_000005.9:g.150696654A>G
More... 		08/17/2021 intron variant benign|likely benign GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS; GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; Iminoglycinuria; IMINOGLYCINURIA TYPE II; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC36A2
Accession:NM_181776
Location:INTRON

Gene Symbol:SLC36A2
Accession:XM_005268377
Location:INTRON

Gene Symbol:SLC36A2
Accession:XM_017009083
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000903188 CLINVAR
  RCV002495462 CLINVAR
dbSNP (RS) rs190486100 CLINVAR
MedGen C0543541 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC36A2 CLINVAR
OMIM 138500 CLINVAR
  242600 CLINVAR
  608331 CLINVAR
SNOMED CT 84121007 CLINVAR