RGD:8649111 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:8649111 -  Homo sapiens

RGD ID: 8649111
RS ID: rs121913215
ClinVar ID: CV116936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNGR2  TMEM50B  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 34,804,930
GRCh38 21 33,432,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_67t1:c.722-91A>T
LRG_67:g.52632A>T
NG_007570.2:g.52632A>T
NC_000021.9:g.33432623A>T
More... 		intron|intron variant|non-coding transcript variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:TMEM50B
Accession:XM_011529746
Location:3UTRS;EXON

Gene Symbol:TMEM50B
Accession:NR_040016
Location:EXON;NON-CODING

Gene Symbol:TMEM50B
Accession:XM_047440989
Location:INTRON

Gene Symbol:IFNGR2
Accession:NM_001329128
Location:INTRON

Gene Symbol:TMEM50B
Accession:NM_006134
Location:INTRON

Gene Symbol:TMEM50B
Accession:XM_047440988
Location:INTRON

Gene Symbol:IFNGR2
Accession:NM_005534
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000097456 CLINVAR
dbSNP (RS) rs121913215 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IFNGR2 CLINVAR
  TMEM50B CLINVAR
OMIM 147569 CLINVAR
  617894 CLINVAR