RGD:28882044 Rat Genome Database

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Variant: RGD:28882044 -  Homo sapiens

RGD ID: 28882044
RS ID: rs190919484
ClinVar ID: CV862579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127270646  PPOX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 161,137,795
GRCh38 1 161,168,005
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365401.1:c.-138C>T
NM_001350131.2:c.-34-408C>T
NM_001365398.1:c.349C>T
NM_001365399.1:c.349C>T
More... 		01/13/2018 5 prime utr variant uncertain significance 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_001350130
Location:5UTRS;EXON

Gene Symbol:PPOX
Accession:XM_047423592
Location:5UTRS;EXON

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

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

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

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

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

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

Gene Symbol:PPOX
Accession:NM_001350131
Location:5UTRS;INTRON

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

Gene Symbol:PPOX
Accession:XM_011509668
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509667
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:NM_001122764
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365399
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFL
TAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_047423569
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR
KQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:PPOX
Accession:XM_005245291
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLV
FCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509665
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLC
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL
EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD
GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY
PGRSRKQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:PPOX
Accession:NM_001365398
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_047423581
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509674
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLC
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVMLGGSWL
QTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGC
QLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509663
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLC
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL
EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD
GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY
PGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPR
GGATRAD*

Gene Symbol:PPOX
Accession:XM_011509664
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR
KQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATR
AD*

Gene Symbol:PPOX
Accession:XM_006711404
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEP
NS*

Gene Symbol:PPOX
Accession:XM_011509671
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRL
PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_000309
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLCPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

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

Gene Symbol:PPOX
Accession:NM_001350128
Location:INTRON

Gene Symbol:PPOX
Accession:XM_024447864
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509673
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509672
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509670
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097057 CLINVAR
dbSNP (RS) rs190919484 CLINVAR
MedGen C0162532 CLINVAR
NCBI Gene PPOX CLINVAR
OMIM 176200 CLINVAR
  600923 CLINVAR
SNOMED CT 58275005 CLINVAR