RGD:13538473 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:13538473 -  Homo sapiens

RGD ID: 13538473
RS ID: rs1555594435
ClinVar ID: CV506393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GGA3  LOC127887930  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,257,932
GRCh38 17 75,261,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.75261851G>A
NM_001172704.3:c.-228+431C>T
NG_139409.1:g.164G>A
NM_001172703.3:c.-177+431C>T
More... 		02/08/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GGA3
Accession:NM_001172704
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:GGA3
Accession:NM_001172703
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GGA3
Accession:NM_001291642
Location:INTRON

Gene Symbol:GGA3
Accession:NM_014001
Location:INTRON

Gene Symbol:GGA3
Accession:NM_001291641
Location:INTRON

Gene Symbol:GGA3
Accession:NM_138619
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000611884 CLINVAR
dbSNP (RS) rs1555594435 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GGA3 CLINVAR
  MRPS7 CLINVAR
OMIM 606006 CLINVAR
  611974 CLINVAR