RGD:11656362 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:11656362 -  Homo sapiens

RGD ID: 11656362
RS ID: rs886051019
ClinVar ID: CV340106
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNHG14  SNRPN  SNURF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 25,222,920
GRCh38 15 24,977,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001400754.1:c.421-5C>T
NM_001400755.1:c.421-5C>T
NG_012958.1:g.159127C>T
NC_000015.10:g.24977773C>T
More... 		06/14/2016 intron variant uncertain significance Autism spectrum disorders
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SNURF
Accession:NM_005678
Location:3UTRS;INTRON

Gene Symbol:SNRPN
Accession:NM_001378253
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400738
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400643
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400641
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349460
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378255
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400652
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400647
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400737
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400691
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400727
Location:INTRON

Gene Symbol:SNURF
Accession:NM_022804
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400736
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400767
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400640
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400720
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400746
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349464
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400690
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400715
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400765
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400762
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349462
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400758
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400721
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400692
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400753
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400717
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349465
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378254
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400637
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400712
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400722
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400747
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400636
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_022806
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349454
Location:INTRON

Gene Symbol:SNURF
Accession:NM_001394334
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400688
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400719
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_022807
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400708
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349458
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400687
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400734
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400635
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400735
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_003097
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400739
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400742
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400759
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400718
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378252
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400649
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400725
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400650
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400764
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400683
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400710
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349455
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400740
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400639
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400745
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400638
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400684
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400697
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400701
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400706
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_022805
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400644
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400744
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400723
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400763
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400755
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349457
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349461
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400698
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400726
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378251
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400695
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378249
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400685
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400748
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400728
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400730
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378256
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400704
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400756
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349463
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400634
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400729
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400731
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400743
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400694
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400733
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349459
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001378257
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400646
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400696
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400703
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400754
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400732
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_022808
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001349456
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400689
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400693
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400702
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400713
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400757
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400768
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400741
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400686
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400716
Location:INTRON

Gene Symbol:SNRPN
Accession:NM_001400724
Location:INTRON

Gene Symbol:SNHG14
Accession:NR_146177
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000333018 CLINVAR
dbSNP (RS) rs886051019 CLINVAR
MedGen C1510586 CLINVAR
NCBI Gene SNHG14 CLINVAR
  SNRPN CLINVAR
  SNURF CLINVAR
OMIM 182279 CLINVAR
  616259 CLINVAR