RGD:13607354 Rat Genome Database

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Variant: RGD:13607354 -  Homo sapiens

RGD ID: 13607354
RS ID: rs73245775
ClinVar ID: CV437749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBPJ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 26,361,568
GRCh38 4 26,359,946
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.11:g.26361568G>A
NG_030343.1:g.45237G>A
NC_000004.12:g.26359946G>A
NM_001374401.1:c.-166-2500G>A
More... 		intron variant benign Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RBPJ
Accession:XM_011513840
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:XM_047415658
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001374403
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001379406
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:XM_047415657
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_203283
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001363577
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_203284
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001374402
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001374401
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001379407
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001379408
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001379409
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_017008171
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_015874
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001374400
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_005349
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_047415656
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000626365 CLINVAR
dbSNP (RS) rs73245775 CLINVAR
MedGen C0011860 CLINVAR
NCBI Gene RBPJ CLINVAR
OMIM 125853 CLINVAR
  147183 CLINVAR
SNOMED CT 44054006 CLINVAR