RGD:15099683 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:15099683 -  Homo sapiens

RGD ID: 15099683
RS ID: rs8062558
ClinVar ID: CV726426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 1,412,898
GRCh38 16 1,362,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016985.1:g.15999A>G
NG_033129.1:g.56808T>C
NC_000016.10:g.1362897A>G
NC_000016.9:g.1412898A>G
More... 		09/16/2020 missense variant likely benign ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; MUCOLIPIDOSIS III, IRANIAN VARIANT FORM; MUCOLIPIDOSIS III, VARIANT FORM; Mucolipidosis type III gamma; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYK
YEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
LTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFE
TLENCRKAHKELSKEIKRLKGLLTQHGIPYTGPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000891982 CLINVAR
  RCV001276185 CLINVAR
  RCV003940700 CLINVAR
dbSNP (RS) rs8062558 CLINVAR
MedGen C1854896 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR