RGD:13522700 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:13522700 -  Homo sapiens

RGD ID: 13522700
RS ID: rs771610641
ClinVar ID: CV492063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX13  PUS10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 61,244,983
GRCh38 2 61,017,848
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008665.1:g.5172T>C
NC_000002.12:g.61017848T>C
NC_000002.11:g.61244983T>C
NP_002609.1:p.Phe30Ser
More... 		01/10/2020 intron variant|missense variant uncertain significance none provided; Peroxisome biogenesis disorder 11A; Peroxisome biogenesis disorder 11B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PUS10
Accession:XM_011532568
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:XM_024452720
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:XM_047443481
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:NM_001322127
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:NM_144709
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:XM_017003428
Location:5UTRS;INTRON

Gene Symbol:PUS10
Accession:XM_011532574
Location:5UTRS;INTRON

Gene Symbol:PEX13
Accession:NM_002618
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPPPPPKPWETRRIPGAGPGPGPGPTSQSADLGPTLMTRPGQPALTRVPPPILPRPSQQTGSSSVNTFRPAYSSFSS
GYGAYGNSFYGGYSPYSYGYNGLGYNRLRVDDLPPSRFVQQAEESSRGAFQSIESIVHAFASVSMMMDATFSAVYNSFRA
VLDVANHFSRLKIHFTKVFSAFALVRTIRYLYRRLQRMLGLRRGSENEDLWAESEGTVACLGAEDRAATSAKSWPIFLFF
AVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLNLALKEQQPKVRGWLLASLDG
QTTGLIPANYVKILGKRKGRKTVESSKVSKQQQSFTNPTLTKGATVADSLDEQEAAFESVFVETNKVPVAPDSIGKDGEK
QDL*

Gene Symbol:PUS10
Accession:XM_047443482
Location:INTRON

Gene Symbol:PUS10
Accession:NM_001322124
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443480
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443475
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443478
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443479
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443477
Location:INTRON

Gene Symbol:PUS10
Accession:XM_011532570
Location:INTRON

Gene Symbol:PUS10
Accession:XM_011532573
Location:INTRON

Gene Symbol:PUS10
Accession:XM_011532576
Location:INTRON

Gene Symbol:PUS10
Accession:XM_017003429
Location:INTRON

Gene Symbol:PUS10
Accession:XM_011532578
Location:INTRON

Gene Symbol:PUS10
Accession:XM_011532571
Location:INTRON

Gene Symbol:PUS10
Accession:NM_001322123
Location:INTRON

Gene Symbol:PUS10
Accession:XM_047443476
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000592064 CLINVAR
  RCV000765692 CLINVAR
  RCV001059125 CLINVAR
  RCV002531070 CLINVAR
  RCV003927928 CLINVAR
dbSNP (RS) rs771610641 CLINVAR
MedGen C0950123 CLINVAR
  C3554000 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX13 CLINVAR
  PUS10 CLINVAR
OMIM 601789 CLINVAR
  612787 CLINVAR
  614883 CLINVAR
  614885 CLINVAR