RGD:150453193 Rat Genome Database

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Variant: RGD:150453193 -  Homo sapiens

RGD ID: 150453193
RS ID: rs185353702
ClinVar ID: CV1231796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: P2RX5  P2RX5-TAX1BP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 3,582,878
GRCh38 17 3,679,584
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.3582878C>T
NM_175080.3:c.1184+6G>A
NM_001204520.2:c.1187+6G>A
NM_001204519.2:c.1256+6G>A
More... 		07/01/2022 intron variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:P2RX5
Accession:NM_001204520
Location:INTRON

Gene Symbol:P2RX5
Accession:NM_001204519
Location:INTRON

Gene Symbol:P2RX5
Accession:NM_002561
Location:INTRON

Gene Symbol:P2RX5
Accession:NM_175080
Location:INTRON

Gene Symbol:P2RX5-TAX1BP3
Accession:NR_037928
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001648103 CLINVAR
  RCV003921293 CLINVAR
dbSNP (RS) rs185353702 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene P2RX5 CLINVAR
  P2RX5-TAX1BP3 CLINVAR
OMIM 602836 CLINVAR