RGD:11543532 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:11543532 -  Homo sapiens

RGD ID: 11543532
RS ID: rs230703
ClinVar ID: CV255029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 65,267,469
GRCh38 14 64,800,751
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.64800751T>C
NC_000014.8:g.65267469T>C
NG_016202.2:g.84142A>G
LRG_1130t1:c.876+5A>G
More... 		04/13/2017 intron variant benign|likely benign AllHighlyPenetrant; none provided; SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Elliptocytosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242579 CLINVAR
  RCV000281698 CLINVAR
  RCV000334353 CLINVAR
  RCV001808683 CLINVAR
  RCV001812705 CLINVAR
dbSNP (RS) rs230703 CLINVAR
MedGen C0427480 CLINVAR
  C2674219 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239455 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR
  616649 CLINVAR