RGD:13479645 Rat Genome Database

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Variant: RGD:13479645 -  Homo sapiens

RGD ID: 13479645
RS ID: rs142579600
ClinVar ID: CV451913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A1  SLC6A1-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 11,060,390
GRCh38 3 11,018,704
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.11060390T>C
NC_000003.12:g.11018704T>C
NM_001348250.2:c.471+6T>C
NG_053003.1:g.30976T>C
More... 		11/30/2020 intron variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A1
Accession:NM_001348252
Location:5UTRS;INTRON

Gene Symbol:SLC6A1
Accession:NM_001348253
Location:5UTRS;INTRON

Gene Symbol:SLC6A1
Accession:XM_017007072
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_017007071
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348250
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_003042
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_005265411
Location:INTRON

Gene Symbol:SLC6A1
Accession:XM_011534027
Location:INTRON

Gene Symbol:SLC6A1
Accession:NM_001348251
Location:INTRON

Gene Symbol:SLC6A1-AS1
Accession:NR_046647
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001613371 CLINVAR
  RCV003767084 CLINVAR
dbSNP (RS) rs142579600 CLINVAR
MedGen C3661900 CLINVAR
  CN231318 CLINVAR
NCBI Gene SLC6A1 CLINVAR
  SLC6A1-AS1 CLINVAR
OMIM 137165 CLINVAR
  616421 CLINVAR