RGD:25314516 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:25314516 -  Homo sapiens

RGD ID: 25314516
RS ID: rs1601551241
ClinVar ID: CV817846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARVCF  COMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 19,956,882
GRCh38 22 19,969,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000754.4:c.*623C>T
NM_001135161.2:c.*623C>T
NM_001135162.2:c.*623C>T
NM_001362828.2:c.*623C>T
More... 		04/28/2018 3 prime utr variant drug response Ultram response

Variant Details
Variant Transcripts
Gene Symbol:COMT
Accession:NM_001135161
Location:3UTRS;EXON

Gene Symbol:COMT
Accession:NM_000754
Location:3UTRS;EXON

Gene Symbol:COMT
Accession:NM_007310
Location:3UTRS;EXON

Gene Symbol:COMT
Accession:NM_001362828
Location:3UTRS;EXON

Gene Symbol:COMT
Accession:NM_001135162
Location:3UTRS;EXON

Gene Symbol:ARVCF
Accession:XM_006724243
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_005261242
Location:INTRON

Gene Symbol:ARVCF
Accession:NM_001410839
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_005261244
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_006724246
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_011530180
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_006724245
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441371
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_011530182
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441367
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441372
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441370
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441368
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441373
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_011530181
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_011530179
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441369
Location:INTRON

Gene Symbol:ARVCF
Accession:XM_047441375
Location:INTRON

Gene Symbol:ARVCF
Accession:NM_001670
Location:INTRON

Gene Symbol:ARVCF
Accession:XR_007067973
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001029673 CLINVAR
dbSNP (RS) rs1601551241 CLINVAR
MedGen CN078023 CLINVAR
NCBI Gene ARVCF CLINVAR
  COMT CLINVAR
OMIM 116790 CLINVAR
  602269 CLINVAR