RGD:11588283 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:11588283 -  Homo sapiens

RGD ID: 11588283
RS ID: rs775881603
ClinVar ID: CV275836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MASP2  TARDBP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 11,086,723
GRCh38 1 11,026,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.11026666G>A
NC_000001.10:g.11086723G>A
NG_007289.2:g.25563C>T
NM_006610.4:c.*219C>T
More... 		06/14/2016 3 prime utr variant uncertain significance LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2; MASP2 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MASP2
Accession:NM_006610
Location:3UTRS;EXON

Gene Symbol:MASP2
Accession:XM_047439758
Location:INTRON

Gene Symbol:TARDBP
Accession:NM_007375
Location:INTRON

Gene Symbol:MASP2
Accession:NM_139208
Location:INTRON

Gene Symbol:MASP2
Accession:XM_017000097
Location:INTRON

Gene Symbol:TARDBP
Accession:XR_007058559
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058561
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058558
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058562
Location:INTRON;NON-CODING

Gene Symbol:MASP2
Accession:XR_001736931
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058564
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058560
Location:INTRON;NON-CODING

Gene Symbol:TARDBP
Accession:XR_007058563
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301588 CLINVAR
dbSNP (RS) rs775881603 CLINVAR
MedGen C3151085 CLINVAR
NCBI Gene MASP2 CLINVAR
  TARDBP CLINVAR
OMIM 605078 CLINVAR
  605102 CLINVAR
  613791 CLINVAR