RGD:150411921 Rat Genome Database

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Variant: RGD:150411921 -  Homo sapiens

RGD ID: 150411921
RS ID: rs28395254
ClinVar ID: CV1178207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,943,068
GRCh38 17 75,946,987
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.1822-192C>T
NM_004035.7:c.1936-192C>T
NM_007292.6:c.1936-192C>T
NC_000017.11:g.75946987G>A
More...
05/20/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACOX1
Accession:NM_004035
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_007292
Location:INTRON

Gene Symbol:ACOX1
Accession:NM_001185039
Location:INTRON

Gene Symbol:ACOX1
Accession:XM_047436183
Location:INTRON

Gene Symbol:ACOX1
Accession:XM_047436182
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001547346 CLINVAR
dbSNP (RS) rs28395254 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 609751 CLINVAR