RGD:11645345 Rat Genome Database

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Variant: RGD:11645345 -  Homo sapiens

RGD ID: 11645345
RS ID: rs886045453
ClinVar ID: CV277908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127270646  PPOX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 161,137,285
GRCh38 1 161,167,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.161167495A>G
NC_000001.10:g.161137285A>G
NG_012877.2:g.6105A>G
NM_000309.3:c.338+9A>G
More... 		01/13/2018 intron variant uncertain significance adolescent <1 / 1 000 000 Porphyria, South African type; PPOX deficiency; Protoporphyrinogen oxidase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPOX
Accession:NM_001350131
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:XM_005245295
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:NM_001350129
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:NM_001365400
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:NM_001365401
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:XM_011509678
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:NM_001350130
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:XM_017001566
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:XM_047423604
Location:5UTRS;INTRON

Gene Symbol:PPOX
Accession:XM_011509665
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509672
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423569
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509671
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509674
Location:INTRON

Gene Symbol:PPOX
Accession:NM_000309
Location:INTRON

Gene Symbol:PPOX
Accession:XM_006711404
Location:INTRON

Gene Symbol:PPOX
Accession:XM_024447864
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001365398
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001122764
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509667
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001350128
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509673
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509663
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423581
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509664
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001365399
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245291
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509668
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423592
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509670
Location:INTRON

Gene Symbol:PPOX
Accession:XR_007061329
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265142 CLINVAR
dbSNP (RS) rs886045453 CLINVAR
MedGen C0162532 CLINVAR
NCBI Gene PPOX CLINVAR
OMIM 176200 CLINVAR
  600923 CLINVAR
SNOMED CT 58275005 CLINVAR