RGD:13789710 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:13789710 -  Homo sapiens

RGD ID: 13789710
RS ID: rs200632069
ClinVar ID: CV545192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRHPR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 37,436,681
GRCh38 9 37,436,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.37436684G>A
NG_008135.1:g.18975G>A
NP_036335.1:p.Ala297Thr
NM_012203.1:c.889G>A
More... 		10/27/2023 missense variant conflicting interpretations of pathogenicity|uncertain significance D-glycerate dehydrogenase deficiency; Glyceric aciduria; Glyoxylate reductase/hydroxypyruvate reductase deficiency; Oxalosis 2; OXALOSIS II; Primary hyperoxaluria type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRHPR
Accession:XM_005251631
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRFLYTGRQP
RPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAG
LDVTSPEPLPTNHPLLTLKNCVILPHIGSTTHRTRNTMSLLAANNLLAGLRGEPMPSELKL*

Gene Symbol:GRHPR
Accession:XM_047424085
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTTNVLGPLGVVTVREPIPPTPTPACVLEGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVV
ACSLTPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHI
GSTTHRTRNTMSLLAANNLLAGLRGEPMPSELKL*

Gene Symbol:GRHPR
Accession:NM_012203
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLSDHVDKRILDAAGANLKVIST
MSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIG
LGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSTTHRTRNTMSLLAANNLLAGLRGE
PMPSELKL*

Gene Symbol:GRHPR
Accession:XM_017015320
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_017015323
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_024447716
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_017015321
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_047424084
Location:INTRON

Gene Symbol:GRHPR
Accession:XR_002956828
Location:INTRON;NON-CODING

Gene Symbol:GRHPR
Accession:XR_007061375
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25644115   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000666135 CLINVAR
dbSNP (RS) rs200632069 CLINVAR
MedGen C0268165 CLINVAR
NCBI Gene GRHPR CLINVAR
OMIM 260000 CLINVAR
  604296 CLINVAR
SNOMED CT 40951006 CLINVAR