RGD:14745759 Rat Genome Database

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Variant: RGD:14745759 -  Homo sapiens

RGD ID: 14745759
RS ID: rs7406692
ClinVar ID: CV667899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,924,931
GRCh38 17 41,768,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352773.2:c.707+290C>T
NM_001352774.2:c.707+290C>T
NM_001352775.2:c.707+290C>T
NM_001352776.2:c.707+290C>T
More... 		06/18/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:XM_047435941
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435940
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721875
Location:INTRON

Gene Symbol:JUP
Accession:NM_021991
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352775
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435937
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435938
Location:INTRON

Gene Symbol:JUP
Accession:XM_011524758
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352776
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352777
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352774
Location:INTRON

Gene Symbol:JUP
Accession:NM_002230
Location:INTRON

Gene Symbol:JUP
Accession:NM_001352773
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435942
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435935
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435939
Location:INTRON

Gene Symbol:JUP
Accession:XM_006721874
Location:INTRON

Gene Symbol:JUP
Accession:XM_017024590
Location:INTRON

Gene Symbol:JUP
Accession:XM_047435934
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000843717 CLINVAR
dbSNP (RS) rs7406692 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR