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Gene ID: ENO3
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Gene InfoAnnotation Info
Description:enolase 3Swiss-Prot Source:ENOB_HUMAN
Chromosome:17NCBI mRNA Source:NM_001976
Gene length: 5988NCBI Protein Source:NP_001967
Exons: 12Gene Symbol: ENO3
Number of Transcript Variants 1
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Mutation ListBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed SIFT Score
(help?)
DBSNP:rs115377785I        VNCBIIn dbsnp.None Not scored
DBSNP:rs23823870S        NNCBIIn dbsnp.None Not scored
DBSNP:rs23823984A        VNCBIIn dbsnp.None 0.53
SWISS:VAR_020620155G        DSwiss-Protin muscle-specific beta-enolase deficiency; when associated with E-373None11506403 0.00
SWISS:VAR_020621373G        ESwiss-Protin muscle-specific beta-enolase deficiency; when associated with D-155None11506403 0.00
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs2230257330A        ANCBIIn dbsnpNone
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs2382404797557 C       GNCBIIn dbsnp forward  
DBSNP:rs72156624798951 A       GNCBIIn dbsnp forward  
DBSNP:rs3994594799000 A       GNCBIIn dbsnp forward  
DBSNP:rs45038584799846 C       TNCBIIn dbsnp forward  
DBSNP:rs286190164799847 C       TNCBIIn dbsnp forward  
DBSNP:rs23093474799848 A       GNCBIIn dbsnp reverse  
DBSNP:rs287017854799857 C       TNCBIIn dbsnp forward  
DBSNP:rs1107034799868 C       TNCBIIn dbsnp forward  
DBSNP:rs19831534799869 C       GNCBIIn dbsnp forward  
DBSNP:rs50272784799879 C       TNCBIIn dbsnp forward  
DBSNP:rs10085104799890 C       TNCBIIn dbsnp forward  
DBSNP:rs19831544799891 C       TNCBIIn dbsnp forward  
DBSNP:rs4510694799902 C       TNCBIIn dbsnp forward  
DBSNP:rs50272794799912 C       TNCBIIn dbsnp forward  
DBSNP:rs50272804799923 C       TNCBIIn dbsnp forward  
DBSNP:rs4472514800739 C       TNCBIIn dbsnp forward  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs3665774795224 C       TNCBIIn dbsnp forward  
Transcript VariantsBack to top
MutDB Link Refseq mRNA NCBI Protein Description
NM_053013NM_053013NP_443739enolase 3
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