RGD:402521416 Rat Genome Database

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Variant: RGD:402521416 -  Homo sapiens

RGD ID: 402521416
ClinVar ID: CV3179528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPOX  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 161,137,015
GRCh38 1 161,167,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1078t1:c.213C>A
NM_001365401.1:c.-158C>A
NM_001350131.2:c.-192C>A
NM_001350129.2:c.-215C>A
More...
08/23/2023 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PPOX
Accession:NM_001350129
Location:5UTRS;EXON

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

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

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

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

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

Gene Symbol:PPOX
Accession:NM_001350131
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_011509663
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL
EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD
GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY
PGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPR
GGATRAD*

Gene Symbol:PPOX
Accession:XM_047423569
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR
KQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:PPOX
Accession:XM_011509670
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLT
LKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:NM_001122764
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509665
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL
EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD
GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY
PGRSRKQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:PPOX
Accession:NM_000309
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365399
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFL
TAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_005245291
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLV
FCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_024447864
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAM
DSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETH
LTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQG
AHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGL
KEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_006711404
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEP
NS*

Gene Symbol:PPOX
Accession:XM_011509671
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRL
PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509667
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509672
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509674
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR
PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSI
LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVMLGGSWL
QTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGC
QLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_047423581
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:NM_001365398
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350128
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509673
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGA
GRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISA
IPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRV
TVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQA
PSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:PPOX
Accession:XM_011509664
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR
KQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATR
AD*

Gene Symbol:PPOX
Accession:XM_011509668
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ
RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

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

Gene Symbol:PPOX
Accession:XM_047423592
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003879780 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPOX CLINVAR
OMIM 600923 CLINVAR