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Gene ID: DLD
Navigation:Non-Synonymous SNPsSynonymous SNPsIntronic SNPsUntranslated mRNA SNPs
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:dihydrolipoamide dehydrogenase precursorSwiss-Prot Source:DLDH_HUMAN
Chromosome:7NCBI mRNA Source:NM_000108
Gene length: 30057NCBI Protein Source:NP_000099
Exons: 14Gene Symbol: DLD
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_00690772K        ESwiss-Protin DLD deficiency268506365 0.03
DBSNP:rs1153895398H        YNCBIIn dbsnp.None Not scored
DBSNP:rs1130477103K        TNCBIIn dbsnp.None Not scored
SWISS:VAR_015820229G        CSwiss-Protin DLD deficiency; carrier rate among Askenazi Jewish 1:94269934985 0.00
DBSNP:rs11538949305C        GNCBIIn dbsnp.None 0.32
DBSNP:rs17624330L        VNCBIIn dbsnp.None 1.00
DBSNP:rs28934599410E        KNCBIIn dbsnp.None Not scored
SWISS:VAR_006908488P        LSwiss-Protin DLD deficiency268506365 0.00
SWISS:VAR_015821495R        GSwiss-Protin DLD deficiency; loss of enzyme activity268968745 0.28
DBSNP:rs1803922497N        TNCBIIn dbsnp.None 0.2
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs1715459082V        VNCBIIn dbsnpNone
DBSNP:rs1065762258K        KNCBIIn dbsnpNone
DBSNP:rs1049283332P        PNCBIIn dbsnpNone
DBSNP:rs1803921450L        LNCBIIn dbsnpNone
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs10227605107319325 C       TNCBIIn dbsnp forward  
DBSNP:rs17154575107320123 C       TNCBIIn dbsnp forward  
DBSNP:rs17154576107320210 A       GNCBIIn dbsnp forward  
DBSNP:rs6466204107320342 C       TNCBIIn dbsnp forward  
DBSNP:rs2237682107322471 C       GNCBIIn dbsnp forward  
DBSNP:rs3801937107323533 C       TNCBIIn dbsnp reverse  
DBSNP:rs3801936107323652 C       TNCBIIn dbsnp reverse  
DBSNP:rs10487276107323699 C       TNCBIIn dbsnp forward  
DBSNP:rs3801935107323780 C       TNCBIIn dbsnp reverse  
DBSNP:rs7804287107324564 A       TNCBIIn dbsnp forward  
DBSNP:rs10243527107324724 A       GNCBIIn dbsnp forward  
DBSNP:rs10229740107324725 G       TNCBIIn dbsnp forward  
DBSNP:rs10274081107325362 A       GNCBIIn dbsnp forward  
DBSNP:rs10277218107325552 A       GNCBIIn dbsnp forward  
DBSNP:rs7790757107325738 C       GNCBIIn dbsnp forward  
DBSNP:rs10277625107325826 A       GNCBIIn dbsnp forward  
DBSNP:rs10278287107326364 A       GNCBIIn dbsnp forward  
DBSNP:rs17154582107326566 A       CNCBIIn dbsnp forward  
DBSNP:rs3801934107327309 C       TNCBIIn dbsnp reverse  
DBSNP:rs10238807107327397 C       TNCBIIn dbsnp forward  
DBSNP:rs10252703107327461 A       GNCBIIn dbsnp forward  
DBSNP:rs7779923107327479 C       TNCBIIn dbsnp forward  
DBSNP:rs6466205107327640 A       GNCBIIn dbsnp forward  
DBSNP:rs4730279107328792 A       TNCBIIn dbsnp forward  
DBSNP:rs17154585107329750 A       GNCBIIn dbsnp forward  
DBSNP:rs10250718107329897 C       TNCBIIn dbsnp forward  
DBSNP:rs10235203107329955 C       TNCBIIn dbsnp forward  
DBSNP:rs7779702107330588 A       GNCBIIn dbsnp forward  
DBSNP:rs2701043107331332 A       GNCBIIn dbsnp forward  
DBSNP:rs2108222107331443 C       GNCBIIn dbsnp forward  
DBSNP:rs2158834107331552 A       GNCBIIn dbsnp forward  
DBSNP:rs13225931107331716 G       TNCBIIn dbsnp forward  
DBSNP:rs13239035107331790 A       GNCBIIn dbsnp forward  
DBSNP:rs13226236107331977 C       TNCBIIn dbsnp forward  
DBSNP:rs17412104107332821 A       GNCBIIn dbsnp forward  
DBSNP:rs10263341107333034 C       TNCBIIn dbsnp forward  
DBSNP:rs10281520107334172 A       GNCBIIn dbsnp forward  
DBSNP:rs10252490107334237 C       GNCBIIn dbsnp forward  
DBSNP:rs6977846107334827 A       GNCBIIn dbsnp forward  
DBSNP:rs28568950107335865 C       GNCBIIn dbsnp forward  
DBSNP:rs10241816107336543 C       GNCBIIn dbsnp forward  
DBSNP:rs10242084107336769 A       CNCBIIn dbsnp forward  
DBSNP:rs4730280107337181 G       TNCBIIn dbsnp forward  
DBSNP:rs13310357107338206 A       TNCBIIn dbsnp forward  
DBSNP:rs13310360107338211 C       TNCBIIn dbsnp forward  
DBSNP:rs13310386107338226 G       TNCBIIn dbsnp forward  
DBSNP:rs12534617107338243 A       GNCBIIn dbsnp forward  
DBSNP:rs13242490107338465 G       TNCBIIn dbsnp forward  
DBSNP:rs13245239107338521 C       GNCBIIn dbsnp forward  
DBSNP:rs6466206107338994 C       GNCBIIn dbsnp forward  
DBSNP:rs10266327107339050 C       TNCBIIn dbsnp forward  
DBSNP:rs10808155107339323 A       TNCBIIn dbsnp forward  
DBSNP:rs12672209107339439 A       TNCBIIn dbsnp forward  
DBSNP:rs10953553107339505 A       TNCBIIn dbsnp forward  
DBSNP:rs7799327107339920 C       GNCBIIn dbsnp forward  
DBSNP:rs13241029107341483 C       TNCBIIn dbsnp forward  
DBSNP:rs6466207107342414 G       TNCBIIn dbsnp forward  
DBSNP:rs10238360107343500 A       GNCBIIn dbsnp forward  
DBSNP:rs10271385107343858 C       TNCBIIn dbsnp forward  
DBSNP:rs10241913107343974 A       GNCBIIn dbsnp forward  
DBSNP:rs10271641107344072 C       TNCBIIn dbsnp forward  
DBSNP:rs2701026107345155 A       GNCBIIn dbsnp forward  
DBSNP:rs2237683107346372 A       GNCBIIn dbsnp forward  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs8721107346957 A       TNCBIIn dbsnp forward  
DBSNP:rs17154615107346967 G       TNCBIIn dbsnp forward  
DBSNP:rs4564107347146 A       GNCBIIn dbsnp forward  
DBSNP:rs11538948107347160 C       TNCBIIn dbsnp reverse  
DBSNP:rs11386107347161 A       GNCBIIn dbsnp forward  
DBSNP:rs1803512107347178 A       CNCBIIn dbsnp forward  
DBSNP:rs16872391107347413 C       TNCBIIn dbsnp forward  
DBSNP:rs1034107347418 C       TNCBIIn dbsnp forward  
DBSNP:rs4518107347426 C       TNCBIIn dbsnp forward  
DBSNP:rs3210138107347452 C       TNCBIIn dbsnp forward  
DBSNP:rs1239107347472 A       CNCBIIn dbsnp reverse  
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