RGD:11602608 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:11602608 -  Homo sapiens

RGD ID: 11602608
RS ID: rs186530202
ClinVar ID: CV314850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 67,227,170
GRCh38 11 67,459,699
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021211.1:g.9353C>A
NC_000011.10:g.67459699C>A
NC_000011.9:g.67227170C>A
NR_166529.1:n.1763C>A
More... 		01/13/2018 3 prime utr variant uncertain significance Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_145200
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001379183
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001300896
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:XM_024448615
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001300895
Location:3UTRS;EXON

Gene Symbol:CABP4
Accession:NR_166529
Location:EXON;NON-CODING

Gene Symbol:CABP4
Accession:XM_005274114
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292611 CLINVAR
dbSNP (RS) rs186530202 CLINVAR
MedGen C4041558 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR
  610427 CLINVAR