RGD:11658306 Rat Genome Database

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Variant: RGD:11658306 -  Homo sapiens

RGD ID: 11658306
RS ID: rs886058952
ClinVar ID: CV291828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPOX  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 98,312,263
GRCh38 3 98,593,419
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_000003.12:g.98593419T>G
NC_000003.11:g.98312263T>G
NP_000088.3:p.Gln29Pro
NG_015994.2:g.5193A>C
More... 		06/14/2016 missense variant uncertain significance adolescent 1-9 / 1 000 000 Coproporphyrinogen oxidase deficiency; CPO deficiency; CPOX DEFICIENCY; CPRO deficiency; CPX deficiency; Hereditary coproporphyria porphyria; Porphyria hepatica coproporphyria; Porphyria hepatica II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPOX
Accession:XM_005247125
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSPCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCD
DYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRSSITTYFYY
GLDYV*

Gene Symbol:CPOX
Accession:XM_047447475
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSPCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADVGNWY*

Gene Symbol:CPOX
Accession:NM_000097
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSPCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCD
DYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYD
RGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR*

Gene Symbol:CPOX
Accession:XM_047447474
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSPCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADAIQLGSTFYV*

Gene Symbol:CPOX
Accession:XM_047447473
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALQLGRLSSGPCWLVARGGCGGPRAWSPCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAA
ALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQ
AQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKK*

Gene Symbol:CPOX
Accession:XR_001740025
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348093 CLINVAR
dbSNP (RS) rs886058952 CLINVAR
MedGen C0162531 CLINVAR
NCBI Gene CPOX CLINVAR
  LOC129937121 CLINVAR
OMIM 121300 CLINVAR
  612732 CLINVAR
SNOMED CT 7425008 CLINVAR