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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000038986 Accession number: BC020825 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Methylmalonyl-CoA epimerase, mitochondrial; EC=5.1.99.1; DL-methylmalonyl-CoA racemase; Precursor;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
20 .. 20 G/T rs202194538 - CDS Nonsynonymous[Val4Leu]
22 .. 22 G/C rs141373682 - CDS Synonymous[Val4Val]
76 .. 76 C/T rs151148238 - CDS Synonymous[Pro22Pro]
91 .. 91 A/G rs112554902 - CDS Synonymous[Arg27Arg]
112 .. 112 C/G rs146573280 - CDS Synonymous[Pro34Pro]
149 .. 149 C/T rs111033538 + CDS AA-STOP[Arg47*]
176 .. 176 C/T rs187576440 - CDS Nonsynonymous[Pro56Ser]
188 .. 188 A/C rs147401037 - CDS Nonsynonymous[Lys60Gln]
236 .. 236 G/A rs199767486 - CDS Nonsynonymous[Ala76Thr]
237 .. 237 C/T rs11541017 + CDS Nonsynonymous[Ala76Val]
281 .. 281 C/A rs200681141 - CDS Nonsynonymous[Leu91Met]
321 .. 321 T/G rs6748672 - CDS Nonsynonymous[Leu104Arg]
322 .. 322 T/G rs142838031 - CDS Synonymous[Leu104Leu]
437 .. 437 C/T rs138436961 - CDS Nonsynonymous[Arg143Cys]
438 .. 438 G/A rs115175255 - CDS Nonsynonymous[Arg143His]
450 .. 450 A/G rs75608389 - CDS Nonsynonymous[Glu147Gly]
530 .. 530 G/C rs200334627 - CDS Nonsynonymous[Glu174Gln]
592 .. 592 A/C rs77264779 - 3'UTR
687 .. 687 A/G rs11686313 - 3'UTR
803 .. 803 G/A rs72903553 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer