RGD:15157149 Rat Genome Database

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Variant: RGD:15157149 -  Homo sapiens

RGD ID: 15157149
RS ID: rs78222354
ClinVar ID: CV730196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SATB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 18,438,787
GRCh38 3 18,397,295
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322875.2:c.640-5T>C
NM_001322876.2:c.424-5T>C
NM_001131010.4:c.640-5T>C
NM_001195470.3:c.640-5T>C
More... 		05/08/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SATB1
Accession:XM_011533988
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322871
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322874
Location:INTRON

Gene Symbol:SATB1
Accession:XM_011533989
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322872
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322876
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322875
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001195470
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001131010
Location:INTRON

Gene Symbol:SATB1
Accession:XM_047448683
Location:INTRON

Gene Symbol:SATB1
Accession:NM_002971
Location:INTRON

Gene Symbol:SATB1
Accession:NM_001322873
Location:INTRON

Gene Symbol:SATB1
Accession:XM_011533990
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000880766 CLINVAR
dbSNP (RS) rs78222354 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SATB1 CLINVAR
OMIM 602075 CLINVAR