RGD:329352981 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 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
Advanced Search (OLGA)

Variant: RGD:329352981 -  Homo sapiens

RGD ID: 329352981
ClinVar ID: CV2476964
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPP2R2B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 146,257,718
GRCh38 5 146,878,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271948.2:c.-202C>G
NM_001127381.1:c.-84C>G
NP_001258829.1:p.Leu31Val
NP_858060.2:p.Leu39Val
More... 		02/01/2023 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PPP2R2B
Accession:NM_001271948
Location:5UTRS;EXON

Gene Symbol:PPP2R2B
Accession:NM_001428277
Location:5UTRS;EXON

Gene Symbol:PPP2R2B
Accession:NM_181675
Location:5UTRS;EXON

Gene Symbol:PPP2R2B
Accession:NM_001428279
Location:5UTRS;EXON

Gene Symbol:PPP2R2B
Accession:NM_181678
Location:5UTRS;INTRON

Gene Symbol:PPP2R2B
Accession:NM_001271900
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLQPSERHYRDWNHRRLGPWCSPTGSPAPVSCETGCGEGSWILVCRLLVPTQVSLLSMEEDIDTRKINNSFLRDHSYAT
EADIISTVEFNHTGELLATGDKGGRVVIFQREQESKNQVHRRGEYNVYSTFQSHEPEFDYLKSLEIEEKINKIRWLPQQN
AAYFLLSTNDKTVKLWKVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTYHINSISVN
SDYETYMSADDLRINLWNFEITNQSFNIVDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRASALCDRHT
KFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMTRDYLTVKVWDLNMENRPIETYQVHDYLRSKLCSLYENDCIFDKF
ECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAILKPRKVCVGGKRRKDEISVDSLDFSKKILHTAWHP
SENIIAVAATNNLYIFQDKVN*

Gene Symbol:PPP2R2B
Accession:NM_181674
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLSLPALHLQTSEHHPFFQLPHRRLGPWCSPTGSPAPVSCETGCGEGSWILVCRLLVPTQVSLLSMEEDIDTRKINNSF
LRDHSYATEADIISTVEFNHTGELLATGDKGGRVVIFQREQESKNQVHRRGEYNVYSTFQSHEPEFDYLKSLEIEEKINK
IRWLPQQNAAYFLLSTNDKTVKLWKVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTY
HINSISVNSDYETYMSADDLRINLWNFEITNQSFNIVDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRA
SALCDRHTKFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMTRDYLTVKVWDLNMENRPIETYQVHDYLRSKLCSLYE
NDCIFDKFECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAILKPRKVCVGGKRRKDEISVDSLDFSKK
ILHTAWHPSENIIAVAATNNLYIFQDKVN*

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:PPP2R2B
Accession:NM_181676
Location:INTRON

Gene Symbol:PPP2R2B
Accession:NM_001271899
Location:INTRON

Gene Symbol:PPP2R2B
Accession:NM_181677
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003223196 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPP2R2B CLINVAR
OMIM 604325 CLINVAR