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H-Invitational ID: HIT000053536 Accession number: BC050642 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 85 .. 85 C/T rs17032795 + 5'UTR 121 .. 121 C/T rs11544506 + 5'UTR 127 .. 127 C/T rs11544510 + 5'UTR 209 .. 209 G/T rs11544495 + CDS Nonsynonymous[Arg15Leu] 290 .. 290 G/C rs11544503 + CDS Nonsynonymous[Gly42Ala] 296 .. 296 A/G rs138834005 - CDS Nonsynonymous[Tyr44Cys] 332 .. 332 G/A rs201990176 - CDS Nonsynonymous[Arg56His] 340 .. 340 G/A rs142310173 - CDS Nonsynonymous[Gly59Arg] 366 .. 366 G/A rs28999074 + CDS Synonymous[Glu67Glu] 369 .. 369 C/T rs201513751 - CDS Synonymous[His68His] 374 .. 374 A/G rs201867667 - CDS Nonsynonymous[Asn70Ser] 388 .. 388 C/A rs146938354 - CDS Nonsynonymous[Pro75Thr] 396 .. 396 G/A rs28999075 + CDS Synonymous[Leu77Leu] 397 .. 397 G/T rs146619828 - CDS Nonsynonymous[Val78Phe] 447 .. 447 G/C rs11544491 + CDS Nonsynonymous[Met94Ile] 458 .. 458 A/G rs201943492 - CDS Nonsynonymous[Asp98Gly] 489 .. 489 G/A rs200935067 - CDS Synonymous[Ala108Ala] 517 .. 517 G/A rs199529530 - CDS Nonsynonymous[Val118Ile] 522 .. 522 C/T rs11544507 + CDS Synonymous[Cys119Cys] 535 .. 535 G/A/C rs11544519 + CDS 561 ^ 562 -/CC rs144538182 - CDS 564 .. 564 C/T rs11544497 + CDS Synonymous[His133His] 582 .. 582 C/A rs142256351 - CDS Synonymous[Gly139Gly] 660 .. 660 G/C rs11544509 + CDS Nonsynonymous[Met165Ile] 696 .. 696 C/A/T rs11544513 + CDS 732 .. 732 C/T rs11544499 + CDS Synonymous[Tyr189Tyr] 734 .. 734 A/G rs201627070 - CDS Nonsynonymous[His190Arg] 751 .. 751 A/G rs199771237 - CDS Nonsynonymous[Ile196Val] 799 .. 799 G/A rs201238976 - CDS Nonsynonymous[Gly212Arg] 875 .. 875 C/T rs148752848 - CDS Nonsynonymous[Thr237Ile] 889 .. 889 A/G rs138820314 - CDS Nonsynonymous[Ile242Val] 892 .. 892 G/A rs143707545 - CDS Nonsynonymous[Gly243Ser] 900 .. 900 C/G/T rs2230874 + CDS 905 .. 905 C/T rs201508705 - CDS Nonsynonymous[Ala247Val] 912 .. 912 C/T rs143076849 - CDS Synonymous[Ser249Ser] 913 .. 913 G/C/T rs11544512 + CDS 1062 .. 1062 T/C rs140944386 - CDS Synonymous[Asp299Asp] 1139 .. 1139 C/A rs11544514 + CDS Nonsynonymous[Pro325Gln] 1140 .. 1140 A/C rs140674283 - CDS Synonymous[Pro325Pro] 1152 .. 1152 C/A rs3180139 + CDS Synonymous[Ala329Ala] 1164 .. 1164 C/T rs146867004 - CDS Synonymous[Asn333Asn] 1229 .. 1229 A/C rs201636531 - CDS Nonsynonymous[Gln355Pro] 1235 .. 1235 G/A rs200008125 - CDS Nonsynonymous[Cys357Tyr] 1253 .. 1253 A/G rs151047591 - CDS Nonsynonymous[Asn363Ser] 1279 .. 1279 C/T rs150781341 - CDS Nonsynonymous[Arg372Cys] 1283 .. 1283 C/T rs143592223 - CDS Nonsynonymous[Ser373Leu] 1288 .. 1288 G/A rs3206672 + CDS Nonsynonymous[Glu375Lys] 1324 .. 1324 G/C rs11544489 + CDS Nonsynonymous[Gly387Arg] 1373 .. 1373 G/A rs201032262 - CDS Nonsynonymous[Arg403His] 1403 .. 1403 T/C rs201317089 - CDS Nonsynonymous[Ile413Thr] 1413 .. 1413 G/A rs193006639 - CDS Synonymous[Glu416Glu] 1458 .. 1458 C/T rs1065722 + CDS Synonymous[Pro431Pro] 1464 .. 1464 C/A rs139671695 - CDS Synonymous[Ala433Ala] 1470 .. 1470 A/G rs138375821 - CDS Synonymous_atSTOP[*435*] 1487 .. 1487 C/G rs1065725 + 3'UTR 1521 .. 1521 C/T rs11544498 + 3'UTR 1525 .. 1525 C/G rs3207089 + 3'UTR 1560 .. 1560 C/A rs3211543 + 3'UTR 1592 .. 1592 A/C rs3206703 + 3'UTR 1594 .. 1594 C/T rs11544504 + 3'UTR 1645 ^ 1646 -/C rs35715680 - 3'UTR 1678 .. 1678 C/T rs3206709 + 3'UTR 1695 .. 1695 T/A rs28999102 + 3'UTR 1714 .. 1714 A/C rs3199777 + 3'UTR 1721 .. 1721 A/C rs1065737 + 3'UTR 1733 .. 1733 G/A rs1059149 + 3'UTR 1753 .. 1753 C/T rs1803537 + 3'UTR 1756 .. 1756 C/T rs1059176 + 3'UTR 1769 .. 1769 A/C rs3206710 + 3'UTR 1822 .. 1822 A/G rs113945549 - 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand Alu 1 45 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;