RGD:11585332 Rat Genome Database

Send us a Message



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

Variant: RGD:11585332 -  Homo sapiens

RGD ID: 11585332
RS ID: rs2269272
ClinVar ID: CV297413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC1A3  SLC1A3-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 36,687,856
GRCh38 5 36,687,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004172.5:c.*1485C>T
NG_015890.1:g.86400C>T
NC_000005.10:g.36687754C>T
NC_000005.9:g.36687856C>T
More...
06/14/2016 3 prime utr variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC1A3
Accession:XM_047417540
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:NM_001289939
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:NM_004172
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:XM_047417539
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:NM_001166695
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:XM_005248342
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:NM_001289940
Location:3UTRS;EXON

Gene Symbol:SLC1A3
Accession:NM_001166696
Location:INTRON

Gene Symbol:SLC1A3-AS1
Accession:XR_007058736
Location:INTRON;NON-CODING

Gene Symbol:SLC1A3-AS1
Accession:XR_001742638
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280394 CLINVAR
dbSNP (RS) rs2269272 CLINVAR
MedGen C2675211 CLINVAR
NCBI Gene SLC1A3 CLINVAR
OMIM 600111 CLINVAR
  612656 CLINVAR