RGD:11625835 Rat Genome Database

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Variant: RGD:11625835 -  Homo sapiens

RGD ID: 11625835
RS ID: rs753708701
ClinVar ID: CV340682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,595,132
GRCh38 15 48,302,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021301.1:g.101635A>C
NC_000015.10:g.48302935A>C
NC_000015.9:g.48595132A>C
NM_000338.2:c.*50A>C
More... 		01/12/2018 3 prime utr variant uncertain significance Bartter syndrome, type 1, antenatal; Hyperprostaglandin E syndrome 1; HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC12A1
Accession:NM_001384136
Location:3UTRS;EXON

Gene Symbol:SLC12A1
Accession:NM_001184832
Location:3UTRS;EXON

Gene Symbol:SLC12A1
Accession:NM_000338
Location:3UTRS;EXON

Gene Symbol:LOC107984755
Accession:XR_007064623
Location:INTRON;NON-CODING

Gene Symbol:LOC107984755
Accession:XR_007064624
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000403182 CLINVAR
dbSNP (RS) rs753708701 CLINVAR
MedGen C1866495 CLINVAR
NCBI Gene SLC12A1 CLINVAR
OMIM 600839 CLINVAR
  601678 CLINVAR