RGD:11590821 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:11590821 -  Homo sapiens

RGD ID: 11590821
RS ID: rs72854471
ClinVar ID: CV295603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 72,434,688
GRCh38 4 71,568,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012653.1:g.386686G>A
NC_000004.12:g.71568971G>A
NC_000004.11:g.72434688G>A
NM_003759.4:c.*1220G>A
More... 		01/13/2018 3 prime utr variant benign|uncertain significance RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC4A4
Accession:XM_024454271
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454267
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_011532390
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454270
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_017008792
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454268
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454272
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001098484
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_017008793
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454269
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_047416348
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001134742
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_003759
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000322653 CLINVAR
dbSNP (RS) rs72854471 CLINVAR
MedGen C1970309 CLINVAR
NCBI Gene SLC4A4 CLINVAR
OMIM 603345 CLINVAR
  604278 CLINVAR