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H-Invitational ID: HIT000434283 Accession number: AK315417 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Alpha-enolase; EC=4.2.1.11; 2-phospho-D-glycerate hydro-lyase; C-myc promoter-binding protein; Enolase 1; MBP-1; MPB-1; Non-neural enolase; NNE; Phosphopyruvate hydratase; Plasminogen-binding protein;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 62 .. 62 C/T rs17032795 + 5'UTR 98 .. 98 C/T rs11544506 + 5'UTR 104 .. 104 C/T rs11544510 + 5'UTR 186 .. 186 G/T rs11544495 + CDS Nonsynonymous[Arg15Leu] 267 .. 267 G/C rs11544503 + CDS Nonsynonymous[Gly42Ala] 273 .. 273 A/G rs138834005 - CDS Nonsynonymous[Tyr44Cys] 309 .. 309 G/A rs201990176 - CDS Nonsynonymous[Arg56His] 317 .. 317 G/A rs142310173 - CDS Nonsynonymous[Gly59Arg] 343 .. 343 G/A rs28999074 + CDS Synonymous[Glu67Glu] 346 .. 346 C/T rs201513751 - CDS Synonymous[His68His] 351 .. 351 A/G rs201867667 - CDS Nonsynonymous[Asn70Ser] 365 .. 365 C/A rs146938354 - CDS Nonsynonymous[Pro75Thr] 373 .. 373 G/A rs28999075 + CDS Synonymous[Leu77Leu] 374 .. 374 G/T rs146619828 - CDS Nonsynonymous[Val78Phe] 424 .. 424 G/C rs11544491 + CDS Nonsynonymous[Met94Ile] 435 .. 435 A/G rs201943492 - CDS Nonsynonymous[Asp98Gly] 466 .. 466 G/A rs200935067 - CDS Synonymous[Ala108Ala] 494 .. 494 G/A rs199529530 - CDS Nonsynonymous[Val118Ile] 499 .. 499 C/T rs11544507 + CDS Synonymous[Cys119Cys] 512 .. 512 G/A/C rs11544519 + CDS 538 ^ 539 -/CC rs144538182 - CDS 541 .. 541 C/T rs11544497 + CDS Synonymous[His133His] 559 .. 559 C/A rs142256351 - CDS Synonymous[Gly139Gly] 637 .. 637 G/C rs11544509 + CDS Nonsynonymous[Met165Ile] 673 .. 673 C/A/T rs11544513 + CDS 709 .. 709 C/T rs11544499 + CDS Synonymous[Tyr189Tyr] 711 .. 711 A/G rs201627070 - CDS Nonsynonymous[His190Arg] 728 .. 728 A/G rs199771237 - CDS Nonsynonymous[Ile196Val] 776 .. 776 G/A rs201238976 - CDS Nonsynonymous[Gly212Arg] 852 .. 852 C/T rs148752848 - CDS Nonsynonymous[Thr237Ile] 866 .. 866 A/G rs138820314 - CDS Nonsynonymous[Ile242Val] 869 .. 869 G/A rs143707545 - CDS Nonsynonymous[Gly243Ser] 877 .. 877 C/G/T rs2230874 + CDS 882 .. 882 C/T rs201508705 - CDS Nonsynonymous[Ala247Val] 889 .. 889 C/T rs143076849 - CDS Synonymous[Ser249Ser] 890 .. 890 G/C/T rs11544512 + CDS 1039 .. 1039 T/C rs140944386 - CDS Synonymous[Asp299Asp] 1116 .. 1116 C/A rs11544514 + CDS Nonsynonymous[Pro325Gln] 1117 .. 1117 A/C rs140674283 - CDS Synonymous[Pro325Pro] 1129 .. 1129 C/A rs3180139 + CDS Synonymous[Ala329Ala] 1141 .. 1141 C/T rs146867004 - CDS Synonymous[Asn333Asn] 1206 .. 1206 A/C rs201636531 - CDS Nonsynonymous[Gln355Pro] 1212 .. 1212 G/A rs200008125 - CDS Nonsynonymous[Cys357Tyr] 1230 .. 1230 A/G rs151047591 - CDS Nonsynonymous[Asn363Ser] 1256 .. 1256 C/T rs150781341 - CDS Nonsynonymous[Arg372Cys] 1260 .. 1260 C/T rs143592223 - CDS Nonsynonymous[Ser373Leu] 1265 .. 1265 G/A rs3206672 + CDS Nonsynonymous[Glu375Lys] 1301 .. 1301 G/C rs11544489 + CDS Nonsynonymous[Gly387Arg] 1350 .. 1350 G/A rs201032262 - CDS Nonsynonymous[Arg403His] 1380 .. 1380 T/C rs201317089 - CDS Nonsynonymous[Ile413Thr] 1390 .. 1390 G/A rs193006639 - CDS Synonymous[Glu416Glu] 1435 .. 1435 C/T rs1065722 + CDS Synonymous[Pro431Pro] 1441 .. 1441 C/A rs139671695 - CDS Synonymous[Ala433Ala] 1447 .. 1447 A/G rs138375821 - CDS Synonymous_atSTOP[*435*]  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;