RGD:13801582 Rat Genome Database

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Variant: RGD:13801582 -  Homo sapiens

RGD ID: 13801582
RS ID: rs758803628
ClinVar ID: CV576808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC1A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 36,629,544
GRCh38 5 36,629,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.36629442T>C
NG_015890.1:g.28088T>C
NM_001289940.2:c.182-8T>C
NM_001289939.2:c.181+20838T>C
More...
12/01/2023 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC1A3
Accession:NM_001166695
Location:INTRON

Gene Symbol:SLC1A3
Accession:XM_047417540
Location:INTRON

Gene Symbol:SLC1A3
Accession:XM_047417539
Location:INTRON

Gene Symbol:SLC1A3
Accession:NM_004172
Location:INTRON

Gene Symbol:SLC1A3
Accession:NM_001289939
Location:INTRON

Gene Symbol:SLC1A3
Accession:NM_001166696
Location:INTRON

Gene Symbol:SLC1A3
Accession:XM_005248342
Location:INTRON

Gene Symbol:SLC1A3
Accession:NM_001289940
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000713364 CLINVAR
dbSNP (RS) rs758803628 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC1A3 CLINVAR
OMIM 600111 CLINVAR