RGD:13820304 Rat Genome Database

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Variant: RGD:13820304 -  Homo sapiens

RGD ID: 13820304
RS ID: rs1559035738
ClinVar ID: CV561861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 61,259,047
GRCh38 2 61,031,912
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.19236C>T
NC_000002.12:g.61031912C>T
NC_000002.11:g.61259047C>T
NP_002609.1:p.Gln196Ter
More... 		06/14/2017 nonsense pathogenic Peroxisome biogenesis disorder 11A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX13
Accession:NM_002618
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPPPPPKPWETRRIPGAGPGPGPGPTFQSADLGPTLMTRPGQPALTRVPPPILPRPSQQTGSSSVNTFRPAYSSFSS
GYGAYGNSFYGGYSPYSYGYNGLGYNRLRVDDLPPSRFVQQAEESSRGAFQSIESIVHAFASVSMMMDATFSAVYNSFRA
VLDVANHFSRLKIHFTKVFSAFALVRTIRYLYRRL*RMLGLRRGSENEDLWAESEGTVACLGAEDRAATSAKSWPIFLFF
AVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLNLALKEQQPKVRGWLLASLDG
QTTGLIPANYVKILGKRKGRKTVESSKVSKQQQSFTNPTLTKGATVADSLDEQEAAFESVFVETNKVPVAPDSIGKDGEK
QDL*
Variant Samples
Additional References at PubMed
PMID:10332040   PMID:21031596   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694806 CLINVAR
dbSNP (RS) rs1559035738 CLINVAR
MedGen C3554000 CLINVAR
NCBI Gene PEX13 CLINVAR
OMIM 601789 CLINVAR
  614883 CLINVAR