rs2058681 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: rs2058681 -  Homo sapiens

RGD ID: 11606913
RS ID: rs2058681
ClinVar ID: CV311236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPER  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 34,194,102
GRCh38 7 34,154,490
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
NG_031933.1:g.254580A>G
NC_000007.14:g.34154490A>G
NC_000007.13:g.34194102A>G
NM_001365308.1:c.*1217A>G
More... 		06/14/2016 3 prime utr variant benign infancy <1 / 1 000 000 VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:BMPER
Accession:NM_001365308
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:XM_047419939
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:NM_001410872
Location:3UTRS;EXON

Gene Symbol:BMPER
Accession:NM_133468
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000337257 CLINVAR
dbSNP (RS) rs2058681 CLINVAR
GWAS Catalog GCST90245848 GWAS Catalog
MedGen C1842691 CLINVAR
NCBI Gene BMPER CLINVAR
OMIM 608022 CLINVAR
  608699 CLINVAR