RGD:152106710 Rat Genome Database

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Variant: RGD:152106710 -  Homo sapiens

RGD ID: 152106710
RS ID: rs138268845
ClinVar ID: CV1527416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 58,519,703
GRCh38 3 58,533,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_052668.1:g.8227C>T
NM_003500.4:c.475+18C>T
NC_000003.12:g.58533976G>A
NC_000003.11:g.58519703G>A
 01/13/2022 intron variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACOX2
Accession:XM_006713340
Location:INTRON

Gene Symbol:ACOX2
Accession:XM_047449042
Location:INTRON

Gene Symbol:ACOX2
Accession:NM_003500
Location:INTRON

Gene Symbol:ACOX2
Accession:XM_005265505
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002079703 CLINVAR
  RCV002500122 CLINVAR
dbSNP (RS) rs138268845 CLINVAR
MedGen C3661900 CLINVAR
  C4310624 CLINVAR
NCBI Gene ACOX2 CLINVAR
OMIM 601641 CLINVAR
  617308 CLINVAR