RGD:11552437 Rat Genome Database

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Variant: RGD:11552437 -  Homo sapiens

RGD ID: 11552437
RS ID: rs75715269
ClinVar ID: CV256169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,925,507
GRCh38 17 41,769,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_401t1:c.469-48C>T
LRG_401:g.22458C>T
NG_009090.2:g.22458C>T
NC_000017.11:g.41769255G>A
More... 		06/28/2018 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:XM_047435937
Location:INTRON

Gene Symbol:JUP
Accession:NM_002230
Location:INTRON

Gene Symbol:JUP
Accession:XM_017024590
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435939
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435935
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435942
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721874
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352774
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352775
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352777
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435934
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435941
Location:INTRON

Gene Symbol:JUP
Accession:NM_021991
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721875
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352776
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435940
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352773
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435938
Location:INTRON

Gene Symbol:JUP
Accession:XM_011524758
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000254376 CLINVAR
  RCV001618463 CLINVAR
dbSNP (RS) rs75715269 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR