RGD:28909587 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:28909587 -  Homo sapiens

RGD ID: 28909587
RS ID: rs539284976
ClinVar ID: CV867734
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INS  INS-IGF2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,182,130
GRCh38 11 2,160,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000207.3:c.72C>A
NM_001042376.3:c.72C>A
NM_001185097.2:c.72C>A
NM_001291897.2:c.72C>A
More... 		12/07/2022 non-coding transcript variant likely pathogenic|benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:INS
Accession:NM_001291897
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001185097
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_000207
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001185098
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLYQLENYCN*

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQASALSLSSSTSTWPEGLD
ATARAPPALVVTANIGQAGGSSSRQFRQRALGTSDSPVLFIHCPGAAGTAQGLEYRGRRVTTELVWEEVDSSPQPQGSES
LPAQPPAQPAPQPEPQQAREPSPEVSCCGLWPRRPQRSQN*

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11921414   PMID:18171712   PMID:25542748   PMID:26101329   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001108480 CLINVAR
  RCV001108481 CLINVAR
  RCV001310941 CLINVAR
  RCV002379649 CLINVAR
  RCV002464387 CLINVAR
dbSNP (RS) rs539284976 CLINVAR
MedGen C0950123 CLINVAR
  C3150617 CLINVAR
  C3278636 CLINVAR
  C3661900 CLINVAR
  CN239353 CLINVAR
NCBI Gene INS CLINVAR
  INS-IGF2 CLINVAR
OMIM 176730 CLINVAR
  613370 CLINVAR