RGD:150460575 Rat Genome Database

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Variant: RGD:150460575 -  Homo sapiens

RGD ID: 150460575
RS ID: rs28715841
ClinVar ID: CV1253127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,953,322
GRCh38 17 75,957,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001185039.2:c.424+218G>A
NM_004035.7:c.538+218G>A
NM_007292.6:c.538+218G>A
NG_008190.1:g.27123G>A
More... 		09/11/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACOX1
Accession:NM_007292
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_001185039
Location:INTRON

Gene Symbol:ACOX1
Accession:XM_047436182
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_004035
Location:INTRON

Gene Symbol:ACOX1
Accession:XM_047436183
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001669456 CLINVAR
dbSNP (RS) rs28715841 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 609751 CLINVAR