RGD:401964173 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:401964173 -  Homo sapiens

RGD ID: 401964173
ClinVar ID: CV2843535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A-AS1  SCN9A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 167,084,233
GRCh38 2 166,227,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002977.2:c.4174G>T
NM_002977.3:c.4174G>T
LRG_369p1:p.Ala1392Ser
NP_002968.1:p.Ala1392Ser
More... 		11/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:NM_002977
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:INTRON

Gene Symbol:SCN9A
Accession:XM_017004669
Location:INTRON

Gene Symbol:SCN9A
Accession:NM_001365536
Location:INTRON

Gene Symbol:SCN9A
Accession:XR_001738886
Location:INTRON;NON-CODING

Gene Symbol:SCN1A-AS1
Accession:NR_110260
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003479878 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SCN1A-AS1 CLINVAR
  SCN9A CLINVAR
OMIM 603415 CLINVAR