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H-Invitational ID: HIT000100083 Accession number: BT007163 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 44 .. 44 G/T rs11544495 + CDS Nonsynonymous[Arg15Leu] 125 .. 125 G/C rs11544503 + CDS Nonsynonymous[Gly42Ala] 131 .. 131 A/G rs138834005 - CDS Nonsynonymous[Tyr44Cys] 167 .. 167 G/A rs201990176 - CDS Nonsynonymous[Arg56His] 175 .. 175 G/A rs142310173 - CDS Nonsynonymous[Gly59Arg] 201 .. 201 G/A rs28999074 + CDS Synonymous[Glu67Glu] 204 .. 204 C/T rs201513751 - CDS Synonymous[His68His] 209 .. 209 A/G rs201867667 - CDS Nonsynonymous[Asn70Ser] 223 .. 223 C/A rs146938354 - CDS Nonsynonymous[Pro75Thr] 231 .. 231 G/A rs28999075 + CDS Synonymous[Leu77Leu] 232 .. 232 G/T rs146619828 - CDS Nonsynonymous[Val78Phe] 282 .. 282 G/C rs11544491 + CDS Nonsynonymous[Met94Ile] 293 .. 293 A/G rs201943492 - CDS Nonsynonymous[Asp98Gly] 324 .. 324 G/A rs200935067 - CDS Synonymous[Ala108Ala] 352 .. 352 G/A rs199529530 - CDS Nonsynonymous[Val118Ile] 357 .. 357 C/T rs11544507 + CDS Synonymous[Cys119Cys] 370 .. 370 G/A/C rs11544519 + CDS 396 ^ 397 -/CC rs144538182 - CDS 399 .. 399 C/T rs11544497 + CDS Synonymous[His133His] 417 .. 417 C/A rs142256351 - CDS Synonymous[Gly139Gly] 495 .. 495 G/C rs11544509 + CDS Nonsynonymous[Met165Ile] 531 .. 531 C/A/T rs11544513 + CDS 567 .. 567 C/T rs11544499 + CDS Synonymous[Tyr189Tyr] 569 .. 569 A/G rs201627070 - CDS Nonsynonymous[His190Arg] 586 .. 586 A/G rs199771237 - CDS Nonsynonymous[Ile196Val] 634 .. 634 G/A rs201238976 - CDS Nonsynonymous[Gly212Arg] 710 .. 710 C/T rs148752848 - CDS Nonsynonymous[Thr237Ile] 724 .. 724 A/G rs138820314 - CDS Nonsynonymous[Ile242Val] 727 .. 727 G/A rs143707545 - CDS Nonsynonymous[Gly243Ser] 735 .. 735 C/G/T rs2230874 + CDS 740 .. 740 C/T rs201508705 - CDS Nonsynonymous[Ala247Val] 747 .. 747 C/T rs143076849 - CDS Synonymous[Ser249Ser] 748 .. 748 G/C/T rs11544512 + CDS 897 .. 897 T/C rs140944386 - CDS Synonymous[Asp299Asp] 974 .. 974 C/A rs11544514 + CDS Nonsynonymous[Pro325Gln] 975 .. 975 A/C rs140674283 - CDS Synonymous[Pro325Pro] 987 .. 987 C/A rs3180139 + CDS Synonymous[Ala329Ala] 999 .. 999 C/T rs146867004 - CDS Synonymous[Asn333Asn] 1064 .. 1064 A/C rs201636531 - CDS Nonsynonymous[Gln355Pro] 1070 .. 1070 G/A rs200008125 - CDS Nonsynonymous[Cys357Tyr] 1088 .. 1088 A/G rs151047591 - CDS Nonsynonymous[Asn363Ser] 1114 .. 1114 C/T rs150781341 - CDS Nonsynonymous[Arg372Cys] 1118 .. 1118 C/T rs143592223 - CDS Nonsynonymous[Ser373Leu] 1123 .. 1123 G/A rs3206672 + CDS Nonsynonymous[Glu375Lys] 1159 .. 1159 G/C rs11544489 + CDS Nonsynonymous[Gly387Arg] 1208 .. 1208 G/A rs201032262 - CDS Nonsynonymous[Arg403His] 1238 .. 1238 T/C rs201317089 - CDS Nonsynonymous[Ile413Thr] 1248 .. 1248 G/A rs193006639 - CDS Synonymous[Glu416Glu] 1293 .. 1293 C/T rs1065722 + CDS Synonymous[Pro431Pro] 1299 .. 1299 C/A rs139671695 - CDS Synonymous[Ala433Ala]  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;