RGD:156080346 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:156080346 -  Homo sapiens

RGD ID: 156080346
ClinVar ID: CV2098622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTPBP2  POLR1C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 43,596,873
GRCh38 6 43,629,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019096.5:c.27C>T
NM_001318876.2:c.945+99865G>A
NG_028283.4:g.117049G>A
NC_000006.12:g.43629136G>A
More... 		03/12/2022 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GTPBP2
Accession:XM_047418938
Location:5UTRS;EXON

Gene Symbol:GTPBP2
Accession:XM_024446478
Location:5UTRS;INTRON

Gene Symbol:GTPBP2
Accession:NM_019096
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSRVSELLGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLPPEAEDGNIEYKLKLVNPSQY
RFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVL
VRKVPDNQQFLDLRVAVLGNVDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYS
DSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREHLGLALALKVPFFIVVSKIDL
CAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKE
QEELMQQLTEFQVDEIYTVPEVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEKIHAKDKLRTGEKAVVRFRFL
KHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANMGF*

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_024446476
Location:INTRON

Gene Symbol:GTPBP2
Accession:NM_001286216
Location:INTRON

Gene Symbol:GTPBP2
Accession:XM_024446477
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002912680 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTPBP2 CLINVAR
  LOC129996523 CLINVAR
  POLR1C CLINVAR
OMIM 607434 CLINVAR
  610060 CLINVAR