RGD:8599385 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:8599385 -  Homo sapiens

RGD ID: 8599385
RS ID: rs121918111
ClinVar ID: CV28392
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 25,384,441
GRCh38 2 25,161,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008997.1:g.12119G>T
NC_000002.12:g.25161572C>A
NC_000002.11:g.25384441C>A
NP_001030333.1:p.Glu105Ter
More... 		08/08/2011 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 Obesity, adrenal insufficiency, and red hair due to POMC deficiency; OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; Proopiomelanocortin deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMC
Accession:NM_001319204
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPMFPGNGDEQPLTENPRKYVMG
HFRWDRFGRRNSSSSGSSGAGQKR*DVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVY
PNGAEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE*

Gene Symbol:POMC
Accession:NM_001035256
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPMFPGNGDEQPLTENPRKYVMG
HFRWDRFGRRNSSSSGSSGAGQKR*DVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVY
PNGAEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE*

Gene Symbol:POMC
Accession:NM_001319205
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPMFPGNGDEQPLTENPRKYVMG
HFRWDRFGRRNSSSSGSSGAGQKR*DVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVY
PNGAEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE*

Gene Symbol:POMC
Accession:NM_000939
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPMFPGNGDEQPLTENPRKYVMG
HFRWDRFGRRNSSSSGSSGAGQKR*DVSAGEDCGPLPEGGPEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVY
PNGAEDESAEAFPLEFKRELTGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE*
Variant Samples
Additional References at PubMed
PMID:9620771  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014281 CLINVAR
dbSNP (RS) rs121918111 CLINVAR
MedGen C1857854 CLINVAR
NCBI Gene POMC CLINVAR
OMIM 176830 CLINVAR
  609734 CLINVAR
OMIM Allele 176830.0001 CLINVAR