RGD:11652387 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11652387 -  Homo sapiens

RGD ID: 11652387
RS ID: rs886063980
ClinVar ID: CV313000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC1A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 4,587,179
GRCh38 9 4,587,179
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_017044.1:g.101753T>G
NC_000009.12:g.4587179T>G
NC_000009.11:g.4587179T>G
NM_004170.6:c.*1621T>G
More...
06/14/2016 3 prime utr variant uncertain significance infancy Glutamate-aspartate transport defect
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC1A1
Accession:NM_004170
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_011518007
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_011518010
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_011518008
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_011518009
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_017015043
Location:3UTRS;EXON

Gene Symbol:SLC1A1
Accession:XM_017015042
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304765 CLINVAR
dbSNP (RS) rs886063980 CLINVAR
MedGen C1857253 CLINVAR
NCBI Gene SLC1A1 CLINVAR
OMIM 133550 CLINVAR
  222730 CLINVAR