RGD:11644629 Rat Genome Database

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Variant: RGD:11644629 -  Homo sapiens

RGD ID: 11644629
RS ID: rs886045792
ClinVar ID: CV278347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 201,008,776
GRCh38 1 201,039,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.201039648G>A
NC_000001.10:g.201008776G>A
NM_000069.3:c.*183C>T
NG_009816.2:g.77919C>T
More... 		06/14/2016 3 prime utr variant uncertain significance HypoPP
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1S
Accession:NM_000069
Location:3UTRS;EXON

Gene Symbol:CACNA1S
Accession:XM_005245478
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000261172 CLINVAR
dbSNP (RS) rs886045792 CLINVAR
MedGen C3714580 CLINVAR
NCBI Gene CACNA1S CLINVAR
  LOC101929305 CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR