RGD:10050777 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:10050777 -  Homo sapiens

RGD ID: 10050777
RS ID: rs147783915
ClinVar ID: CV192431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 46,713,068
GRCh38 X 46,853,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.10:g.46713068C>T
NG_009107.1:g.21722C>T
NC_000023.11:g.46853633C>T
NP_008846.2:p.Thr87Ile
More... 		05/28/2019 missense variant benign|likely benign adolescent 1-5 / 10 000 AllHighlyPenetrant; Choroidoretinal degeneration with retinal reflex in heterozygous women; Cone-rod degeneration X-linked; none provided; Retinitis pigmentosa 15; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RP2
Accession:NM_006915
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSAT
VTIDDCINCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFK
DAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVL
FAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFN
GTKMFVSESKETASGDVDSFYNFADIQMGI*
Variant Samples
Additional References at PubMed
PMID:20625056   PMID:23150612   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175832 CLINVAR
  RCV000404081 CLINVAR
  RCV000891263 CLINVAR
  RCV001095347 CLINVAR
dbSNP (RS) rs147783915 CLINVAR
MedGen C0035334 CLINVAR
  C1845667 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene RP2 CLINVAR
OMIM 268000 CLINVAR
  300029 CLINVAR
  300757 CLINVAR
SNOMED CT 28835009 CLINVAR