RGD:12740727 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:12740727 -  Homo sapiens

RGD ID: 12740727
RS ID: rs768288444
ClinVar ID: CV359348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR0B2  NUDC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 27,240,310
GRCh38 1 26,913,819
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012143.1:g.5258G>A
NC_000001.11:g.26913819C>T
NC_000001.10:g.27240310C>T
NP_068804.1:p.Cys41Tyr
More... 		12/15/2016 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NR0B2
Accession:NM_021969
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTSQPGACPCQGAASRPAILYALLSSSLKAVPRPRSRCLFRQHRPVQLCAPHRTCREALDVLAKTVAFLRNLPSFWQLP
PQDQRRLLQGCWGPLFLLGLAQDAVTFEVAEAPVPSILKKILLEEPSSSGGSGQLPDRPQPSLAAVQWLQCCLESFWSLE
LSPKEYACLKGTILFNPDVPGLQAASHIGHLQQEAHWVLCEVLEPWCPAAQGRLTRVLLTASTLKSIPTSLLGDLFFRPI
IGDVDIAGLLGDMLLLR*

Gene Symbol:NR0B2
Accession:XM_011542297
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTSQPGACPCQGAASRPAILYALLSSSLKAVPRPRSRCLFRQHRPVQLCAPHRTCREALDVLAKTVAFLRNLPSFWQLP
PQDQRRLLQGCWGPLFLLGLAQDAVTFEVAEAPVPSILKKILLEEPSSSGGSGQLPDRPQPSLAAVQWLQCCLESFWSLE
LSPKEYACLKGTILFNPDKETEAQRLSDLPKVTQLISDSAGIHTQEA*

Gene Symbol:NUDC
Accession:NM_006600
Location:INTRON

Gene Symbol:NUDC
Accession:XM_024452486
Location:INTRON

Gene Symbol:NUDC
Accession:XM_047439143
Location:INTRON

Gene Symbol:NUDC
Accession:XM_047439200
Location:INTRON

Gene Symbol:NUDC
Accession:XM_047439206
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000412948 CLINVAR
dbSNP (RS) rs768288444 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NR0B2 CLINVAR
  NUDC CLINVAR
OMIM 604630 CLINVAR
  610325 CLINVAR