RGD:15191459 Rat Genome Database

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Variant: RGD:15191459 -  Homo sapiens

RGD ID: 15191459
RS ID: rs148845964
ClinVar ID: CV733473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC8A1  SLC8A1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 40,392,123
GRCh38 2 40,164,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001381036.1:p.Asp644=
NP_001381032.1:p.Asp680=
NM_001372263.2:c.2040C>T
NM_021097.5:c.2040C>T
More... 		06/26/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC8A1
Accession:NM_001351487
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001252624
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351493
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351488
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001112802
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351494
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001394106
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001394107
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001112800
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001112801
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351483
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001394103
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351490
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351492
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001372263
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_021097
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351484
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351489
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001394105
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351486
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351491
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001351485
Location:EXON

Gene Symbol:SLC8A1
Accession:NM_001394104
Location:EXON

Gene Symbol:SLC8A1-AS1
Accession:NR_038441
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000910253 CLINVAR
dbSNP (RS) rs148845964 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC8A1 CLINVAR
  SLC8A1-AS1 CLINVAR
OMIM 182305 CLINVAR