RGD:150404574 Rat Genome Database

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Variant: RGD:150404574 -  Homo sapiens

RGD ID: 150404574
RS ID: rs7611026
ClinVar ID: CV1178894
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 58,520,306
GRCh38 3 58,534,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003500.4:c.161-57C>G
NC_000003.11:g.58520306G>C
NC_000003.12:g.58534579G>C
NG_052668.1:g.7624C>G
 07/14/2021 intron variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACOX2
Accession:XM_006713340
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQVGEKI*RALSGDVALNIHRVFVRALRSLGSEEQIAKWDPLCKNIQIIATYAQTELGHGTYLQGLETEATYDAATQEF
VIHSPTLTATKWWPGDLGRSATHALVQAQLICSGARRGMHAFIVPIRSLQDHTPLPGIIIGDIGPKMDFDQTDNGFLQLN
HVRVPRENMLSRFAQVLPDGTYVKLGTAQSNYLPMVVVRVELLSGEILPILQKACVIAMRYSVIRRQSRLRPSDPEAKVL
DYQTQQQKLFPQLAISYAFHFLAVSLLEFFQHSYTAILNQDFSFLPELHALSTGMKAMMSEFCTQGAEMCRRACGGHGYS
KLSGLPSLVTKLSASCTYEGENTVLYLQVARFLVKSYLQTQMSPGSTPQRSLSPSVAYLTAPDLARCPAQRAADFLCPEL
YTTAWAHVAVRLIKDSVQHLQTLTQSGADQHEAWNQTTVIHLQAAKVHCYYVTVKGFTEALEKLENEPAIQQVLKRLCDL
HAIHGILTNSGDFLHDAFLSGAQVDMARTAYLDLLRLIRKDAILLTDAFDFTDQCLNSALGCYDGNVYERLFQWAQKSPT
NTQENPAYEEYIRPLLQSWRSKL*

Gene Symbol:ACOX2
Accession:NM_003500
Location:INTRON

Gene Symbol:ACOX2
Accession:XM_005265505
Location:INTRON

Gene Symbol:ACOX2
Accession:XM_047449042
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001548952 CLINVAR
dbSNP (RS) rs7611026 CLINVAR
MedGen C4310624 CLINVAR
NCBI Gene ACOX2 CLINVAR
OMIM 601641 CLINVAR
  617308 CLINVAR