RGD:28873122 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:28873122 -  Homo sapiens

RGD ID: 28873122
RS ID: rs956267323
ClinVar ID: CV871152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPART  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 36,877,538
GRCh38 13 36,303,401
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015087.4:c.*964C>T
NC_000013.11:g.36303401G>A
NM_001142296.2:c.*964C>T
NM_015087.5:c.*964C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Autosomal recessive spastic paraplegia type 20; Spastic paraparesis childhood-onset with distal muscle wasting; Spastic paraplegia 20; Spastic paraplegia autosomal recessive Troyer type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPART
Accession:XM_047430212
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142295
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266314
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266313
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430213
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266317
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430211
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_011535012
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142294
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_015087
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_024449334
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142296
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430210
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430209
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266315
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XR_007063671
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114854 CLINVAR
dbSNP (RS) rs956267323 CLINVAR
MedGen C0393559 CLINVAR
NCBI Gene SPART CLINVAR
OMIM 275900 CLINVAR
  607111 CLINVAR
SNOMED CT 230264003 CLINVAR