rs77818193 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 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
Advanced Search (OLGA)

Variant: rs77818193 -  Homo sapiens

RGD ID: 150502023
RS ID: rs77818193
ClinVar ID: CV1255179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NFU1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 69,650,977
GRCh38 2 69,423,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001002756.2:c.-121-4241C>T
NM_001002755.4:c.167-128C>T
NM_001374284.1:c.95-128C>T
NM_015700.4:c.95-128C>T
More... 		07/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NFU1
Accession:NM_001002756
Location:5UTRS;INTRON

Gene Symbol:NFU1
Accession:NM_001002755
Location:INTRON

Gene Symbol:NFU1
Accession:NM_015700
Location:INTRON

Gene Symbol:NFU1
Accession:NM_001374284
Location:INTRON

Gene Symbol:NFU1
Accession:XM_047443939
Location:INTRON

Gene Symbol:NFU1
Accession:NR_045631
Location:INTRON;NON-CODING

Gene Symbol:NFU1
Accession:NR_045632
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001677098 CLINVAR
dbSNP (RS) rs77818193 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NFU1 CLINVAR
OMIM 608100 CLINVAR