RGD:15179610 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:15179610 -  Homo sapiens

RGD ID: 15179610
RS ID: rs192373432
ClinVar ID: CV743346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN1  TIMP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,446,040
GRCh38 X 47,586,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.47586641C>T
NC_000023.10:g.47446040C>T
NM_003254.3:c.574C>T
NM_006950.3:c.775-9140G>A
More... 		07/12/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TIMP1
Accession:NM_003254
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPFEPLASGILLLLWLIAPSRACTCVPPHPQTAFCNSDLVIRAKFVGTPEVNQTTLYQRYEIKMTKMYKGFQALGDAAD
IRFVYTPAMESVCGYFHRSHNRSEEFLIAGKLQDGLLHITTCSFVAPWNSLSLAQRRGFTKTYTVGCEECTVFPCLSIPC
KLQSGTHCLWTDQLLQGSEKGFQSRHLACLPWEPGLCTWQSLRSQIA*

Gene Symbol:SYN1
Accession:NM_133499
Location:INTRON

Gene Symbol:SYN1
Accession:NM_006950
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000907154 CLINVAR
dbSNP (RS) rs192373432 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SYN1 CLINVAR
  TIMP1 CLINVAR
OMIM 305370 CLINVAR
  313440 CLINVAR