RGD:156448782 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:156448782 -  Homo sapiens

RGD ID: 156448782
ClinVar ID: CV2402194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UGT1A  UGT1A1  UGT1A10  UGT1A3  UGT1A4  UGT1A5  UGT1A6  UGT1A7  UGT1A8  UGT1A9  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 234,669,443
GRCh38 2 233,760,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_733t1:c.510C>A
NM_000463.3:c.510C>A
NM_205862.3:c.61-6237C>A
NM_019075.4:c.856-6237C>A
More... 		01/24/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:UGT1A1
Accession:NM_000463
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYP
VPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIV
AQYLSLPTVLFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQR
EVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAM
AIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDN
AKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHD
LTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH*

Gene Symbol:UGT1A5
Accession:NM_019078
Location:INTRON

Gene Symbol:UGT1A9
Accession:NM_021027
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_205862
Location:INTRON

Gene Symbol:UGT1A6
Accession:NM_001072
Location:INTRON

Gene Symbol:UGT1A7
Accession:NM_019077
Location:INTRON

Gene Symbol:UGT1A10
Accession:NM_019075
Location:INTRON

Gene Symbol:UGT1A8
Accession:NM_019076
Location:INTRON

Gene Symbol:UGT1A3
Accession:NM_019093
Location:INTRON

Gene Symbol:UGT1A4
Accession:NM_007120
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003120353 CLINVAR
  RCV003900957 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UGT1A CLINVAR
  UGT1A1 CLINVAR
  UGT1A10 CLINVAR
  UGT1A3 CLINVAR
  UGT1A4 CLINVAR
  UGT1A5 CLINVAR
  UGT1A6 CLINVAR
  UGT1A7 CLINVAR
  UGT1A8 CLINVAR
  UGT1A9 CLINVAR
OMIM 191740 CLINVAR
  606428 CLINVAR
  606429 CLINVAR
  606430 CLINVAR
  606431 CLINVAR
  606432 CLINVAR
  606433 CLINVAR
  606434 CLINVAR
  606435 CLINVAR