rs17149547 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: rs17149547 -  Homo sapiens

RGD ID: 150437735
RS ID: rs17149547
ClinVar ID: CV1237918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 87,043,230
GRCh38 7 87,413,914
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000443.4:c.2683-197T>C
NC_000007.13:g.87043230A>G
NM_018849.3:c.2683-197T>C
NM_018850.3:c.2683-197T>C
More... 		05/08/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ABCB4
Accession:XM_047420476
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_018849
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420475
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_018850
Location:INTRON

Gene Symbol:ABCB4
Accession:NM_000443
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516308
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_011516309
Location:INTRON

Gene Symbol:ABCB4
Accession:XM_047420477
Location:INTRON

Gene Symbol:ABCB4
Accession:XR_007060053
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060047
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060050
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060052
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060048
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060055
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_001744810
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060051
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060046
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060045
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060054
Location:INTRON;NON-CODING

Gene Symbol:ABCB4
Accession:XR_007060049
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001644416 CLINVAR
dbSNP (RS) rs17149547 CLINVAR
GWAS Catalog GCST90245844 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene ABCB4 CLINVAR
OMIM 171060 CLINVAR