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Gene ID: CYP27B1
Navigation:Non-Synonymous SNPsSynonymous SNPsIntronic SNPsUntranslated mRNA SNPs
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:cytochrome P450, family 27, subfamily B,Swiss-Prot Source:CP27B_HUMAN
Chromosome:12NCBI mRNA Source:NM_000785
Gene length: 4859NCBI Protein Source:NP_000776
Exons: 9Gene Symbol: CYP27B1
Number of Transcript Variants 0
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Mutation ListBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed SIFT Score
(help?)
SWISS:VAR_01696965Q        HSwiss-Protin VDDR INone9837822 0.17
DBSNP:rs28934604106R        HNCBIIn dbsnp.None Not scored
SWISS:VAR_016952107R        HSwiss-Protin VDDR I; complete loss of activityNone9486994 0.00
DBSNP:rs28934605124G        ENCBIIn dbsnp.None Not scored
SWISS:VAR_016953125G        ESwiss-Protin VDDR I; complete loss of activityNone9486994 0.00
DBSNP:rs8176344165V        LNCBIIn dbsnp.None Not scored
SWISS:VAR_016954189E        GSwiss-Protin VDDR I; 22% of wild-type activityNone12050193 0.07
SWISS:VAR_016967189E        KSwiss-Protin VDDR I; 11% of wild-type activityNone9837822 0.18
SWISS:VAR_016955321T        RSwiss-Protin VDDR I; complete loss of activityNone10566658 0.00
SWISS:VAR_016970323S        YSwiss-Protin VDDR INone10320521 0.00
DBSNP:rs28934606334R        PNCBIIn dbsnp.None Not scored
SWISS:VAR_016956335R        PSwiss-Protin VDDR I; complete loss of activityNone9486994 0.01
SWISS:VAR_016957343L        FSwiss-Protin VDDR I; 2.3% of wild-type activityNone12050193 0.00
DBSNP:rs13377933355S        NNCBIIn dbsnp.None 0.33
DBSNP:rs2229103373V        ANCBIIn dbsnp.None 0.02
DBSNP:rs28934607381P        SNCBIIn dbsnp.None Not scored
SWISS:VAR_016958382P        SSwiss-Protin VDDR I; complete loss of activityNone9486994 0.00
SWISS:VAR_016968389R        CSwiss-Protin VDDR I; complete loss of activityNone10566658 0.00
SWISS:VAR_016960389R        GSwiss-Protin VDDR I; complete loss of activityNone12050193 0.00
SWISS:VAR_016959389R        HSwiss-Protin VDDR I; complete loss of activityNone9837822 12050193
0.00
SWISS:VAR_016961409T        ISwiss-Protin VDDR INone9837822 12050193
0.27
SWISS:VAR_016971429R        PSwiss-Protin VDDR INone9837822 0.32
SWISS:VAR_016972453R        CSwiss-Protin VDDR INone9837822 0.00
SWISS:VAR_016973478V        GSwiss-Protin VDDR INone10320521 0.00
SWISS:VAR_016974497P        RSwiss-Protin VDDR INone9837822 0.00
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs7965963152R        RNCBIIn dbsnpNone
DBSNP:rs8176345313L        LNCBIIn dbsnpNone
DBSNP:rs8176349483A        ANCBIIn dbsnpNone
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs817634856443399 C       TNCBIIn dbsnp reverse  
DBSNP:rs464653756443547 A       CNCBIIn dbsnp reverse  
DBSNP:rs817634756443569 C       TNCBIIn dbsnp reverse  
DBSNP:rs464653656444254 C       TNCBIIn dbsnp reverse  
DBSNP:rs817634656444370 A       GNCBIIn dbsnp reverse  
DBSNP:rs230709656445010 C       TNCBIIn dbsnp forward  
DBSNP:rs242764056445263 A       GNCBIIn dbsnp reverse  
DBSNP:rs245475156446016 C       GNCBIIn dbsnp reverse  
DBSNP:rs817634356446621 C       GNCBIIn dbsnp reverse  
DBSNP:rs817634256446639 C       TNCBIIn dbsnp reverse  
DBSNP:rs245475056446640 C       GNCBIIn dbsnp reverse  
DBSNP:rs245474956446707 G       TNCBIIn dbsnp reverse  
DBSNP:rs242764156446815 C       GNCBIIn dbsnp reverse  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs817635156442776 A       GNCBIIn dbsnp reverse  
DBSNP:rs817635056443114 A       GNCBIIn dbsnp reverse  
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