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H-Invitational ID: HIT000099904 Accession number: BT006984 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Presenilin-2; PS-2; EC=3.4.23.-; AD3LP; AD5; E5-1; STM-2; Contains: Presenilin-2 NTF subunit; Contains: Presenilin-2 CTF subunit;

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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 4 .. 4 C/G rs199739625 + CDS Nonsynonymous[Leu2Val] 26 .. 26 G/A rs200878942 + CDS Nonsynonymous[Ser9Asn] 27 .. 27 C/T rs201692678 + CDS Synonymous[Ser9Ser] 49 .. 49 C/T rs199644116 + CDS Nonsynonymous[Arg17Trp] 53 .. 53 C/T rs143061887 + CDS Nonsynonymous[Thr18Met] 54 .. 54 G/A rs201018913 + CDS Synonymous[Thr18Thr] 69 .. 69 C/T rs11405 + CDS Synonymous[Ala23Ala] 79 .. 79 A/G rs147326133 + CDS Nonsynonymous[Thr27Ala] 80 .. 80 C/T rs149354305 + CDS Nonsynonymous[Thr27Met] 81 .. 81 G/A rs144696679 + CDS Synonymous[Thr27Thr] 85 .. 85 C/T rs142892469 + CDS Nonsynonymous[Arg29Cys] 89 .. 89 C/T rs200037771 + CDS Nonsynonymous[Ser30Phe] 100 .. 100 G/A rs200636353 + CDS Nonsynonymous[Gly34Ser] 111 .. 111 C/T rs139309459 + CDS Synonymous[Gly37Gly] 129 .. 129 T/C rs6759 + CDS Synonymous[Asn43Asn] 130 .. 130 A/G rs200535276 + CDS Nonsynonymous[Thr44Ala] 132 .. 132 T/A rs143227762 + CDS Synonymous[Thr44Thr] 149 .. 149 A/G rs143501870 + CDS Nonsynonymous[Gln50Arg] 162 .. 162 G/C rs146894466 + CDS Nonsynonymous[Glu54Asp] 165 .. 165 C/T rs139332886 + CDS Synonymous[Asp55Asp] 166 .. 166 G/A rs188598190 + CDS Nonsynonymous[Gly56Ser] 183 .. 183 C/T rs201261403 + CDS Synonymous[Asp61Asp] 184 .. 184 C/T rs150400387 + CDS Nonsynonymous[Arg62Cys] 185 .. 185 G/A rs58973334 + CDS Nonsynonymous[Arg62His] 192 .. 192 C/T rs201272715 + CDS Synonymous[Val64Val] 205 .. 205 C/G/T rs202133351 + CDS 206 .. 206 C/G rs199968912 + CDS Nonsynonymous[Pro69Arg] 207 .. 207 C/T rs142546082 + CDS Synonymous[Pro69Pro] 208 .. 208 G/A rs139972151 + CDS Nonsynonymous[Gly70Arg] 211 .. 211 C/T rs140501902 + CDS Nonsynonymous[Arg71Trp] 254 .. 254 C/T rs63750048 + CDS Nonsynonymous[Ala85Val] 261 .. 261 T/C rs1046240 + CDS Synonymous[His87His] 279 .. 279 G/C rs200350640 + CDS Synonymous[Val93Val] 294 .. 294 C/T rs146718524 + CDS Synonymous[Cys98Cys] 300 .. 300 C/T rs200801915 + CDS Synonymous[Ile100Ile] 328 .. 328 C/T rs199808788 + CDS Nonsynonymous[Arg110Cys] 336 .. 336 C/T rs200610057 + CDS Synonymous[Tyr112Tyr] 348 .. 348 T/C rs201119121 + CDS Synonymous[Asn116Asn] 364 .. 364 A/C rs63749851 + CDS Nonsynonymous[Thr122Pro] 365 .. 365 C/G rs28936380 + CDS Nonsynonymous[Thr122Arg] 366 .. 366 G/A rs148996705 + CDS Synonymous[Thr122Thr] 389 .. 389 C/T rs63750197 + CDS Nonsynonymous[Ser130Leu] 411 .. 411 C/T rs200924879 + CDS Synonymous[Asn137Asn] 415 .. 415 G/A rs202178897 + CDS Nonsynonymous[Val139Met] 421 .. 421 A/T rs61761208 + CDS Nonsynonymous[Asn141Tyr] 422 .. 422 A/T rs63750215 + CDS Nonsynonymous[Asn141Ile] 423 .. 423 C/T rs116003409 + CDS Synonymous[Asn141Asn] 424 .. 424 A/T rs201590095 + CDS Nonsynonymous[Thr142Ser] 429 .. 429 C/T rs201196514 + CDS Synonymous[Leu143Leu] 439 .. 439 A/G rs201892898 + CDS Nonsynonymous[Ser147Gly] 441 .. 441 C/T rs114334281 + CDS Synonymous[Ser147Ser] 442 .. 442 G/A rs63750812 + CDS Nonsynonymous[Val148Ile] 455 .. 455 T/C rs199654606 + CDS Nonsynonymous[Met152Thr] 460 .. 460 A/G rs139573101 + CDS Nonsynonymous[Ile154Val] 487 .. 487 C/A rs200931244 + CDS Nonsynonymous[Arg163Ser] 520 .. 520 A/G rs61757781 + CDS Nonsynonymous[Met174Val] 537 .. 537 G/A rs201896763 + CDS Synonymous[Leu179Leu] 551 .. 551 C/T rs200210453 + CDS Nonsynonymous[Thr184Ile] 570 .. 570 A/C rs202176021 + CDS Nonsynonymous[Glu190Asp] 584 .. 584 A/G rs200410369 + CDS Nonsynonymous[Tyr195Cys] 588 .. 588 T/C rs144629723 + CDS Synonymous[Asn196Asn] 631 .. 631 T/G rs201671829 + CDS Nonsynonymous[Phe211Val] 633 .. 633 C/T rs199760083 + CDS Synonymous[Phe211Phe] 634 .. 634 G/A rs200173519 + CDS Nonsynonymous[Gly212Arg] 642 .. 642 G/T rs190477948 + CDS Synonymous[Val214Val] 683 .. 683 A/T rs63750880 + CDS Nonsynonymous[Gln228Leu] 690 .. 690 C/G rs145010538 + CDS Synonymous[Ala230Ala] 692 .. 692 A/G rs200754713 + CDS Nonsynonymous[Tyr231Cys] 697 .. 697 A/G rs201908554 + CDS Nonsynonymous[Ile233Val] 708 .. 708 T/C rs61730652 + CDS Synonymous[Ser236Ser] 710 .. 710 C/T rs200670135 + CDS Nonsynonymous[Ala237Val] 711 .. 711 G/A rs202003390 + CDS Synonymous[Ala237Ala] 715 .. 715 A/G rs28936379 + CDS Nonsynonymous[Met239Val] 717 .. 717 G/A rs63749884 + CDS Nonsynonymous[Met239Ile] 725 .. 725 T/C rs200133314 + CDS Nonsynonymous[Val242Ala] 739 .. 739 C/T rs140562931 + CDS Nonsynonymous[Leu247Phe] 744 .. 744 A/G rs145400391 + CDS Synonymous[Pro248Pro] 753 .. 753 C/T rs200332829 + CDS Synonymous[Ser251Ser] 754 .. 754 G/A rs138836272 + CDS Nonsynonymous[Ala252Thr] 755 .. 755 C/T rs201403206 + CDS Nonsynonymous[Ala252Val] 756 .. 756 G/C rs147702142 + CDS Synonymous[Ala252Ala] 763 .. 763 A/T rs201292728 + CDS Nonsynonymous[Ile255Phe] 771 .. 771 C/T rs7539017 + CDS Synonymous[Gly257Gly] 772 .. 772 G/A/T rs148238688 + CDS 781 .. 781 G/C rs201055590 + CDS Nonsynonymous[Val261Leu] 783 .. 783 G/A rs202210060 + CDS Synonymous[Val261Val] 790 .. 790 C/T rs200694973 + CDS Nonsynonymous[Leu264Phe] 792 .. 792 C/G rs77875620 + CDS Synonymous[Leu264Leu] 793 .. 793 G/A rs199707432 + CDS Nonsynonymous[Val265Met] 798 .. 798 T/C rs200644982 + CDS Synonymous[Ala266Ala] 800 .. 800 T/G rs77421307 + CDS Nonsynonymous[Val267Gly] 804 .. 804 G/C rs201606093 + CDS Synonymous[Leu268Leu] 854 .. 854 A/G rs150780392 + CDS Nonsynonymous[Asn285Ser] 861 .. 861 C/T rs75733498 + CDS Synonymous[Pro287Pro] 877 .. 877 A/T rs199689738 + CDS Nonsynonymous[Ile293Leu] 884 .. 884 C/T rs200668817 + CDS Nonsynonymous[Ser295Leu] 902 .. 902 C/T rs144277432 + CDS Nonsynonymous[Thr301Met] 903 .. 903 G/A/T rs6426553 + CDS 914 .. 914 C/T rs200501733 + CDS Nonsynonymous[Ala305Val] 915 .. 915 G/A rs75357954 + CDS Synonymous[Ala305Ala] 927 .. 927 C/T rs200326485 + CDS Synonymous[Pro309Pro] 947 .. 947 A/G rs201778576 + CDS Nonsynonymous[Gln316Arg] 954 .. 954 C/T rs199587016 + CDS Synonymous[Pro318Pro] 958 .. 958 G/A rs141094783 + CDS Nonsynonymous[Asp320Asn] 993 .. 993 T/C/G rs200044441 + CDS 1001 .. 1001 C/G rs63750207 + CDS Nonsynonymous[Pro334Arg] 1015 .. 1015 G/A rs201917728 + CDS Nonsynonymous[Val339Ile] 1023 .. 1023 G/A rs199881176 + CDS Synonymous[Glu341Glu] 1049 .. 1049 A/G rs78420366 + CDS Nonsynonymous[Glu350Gly] 1068 .. 1068 G/A rs200977587 + CDS Synonymous[Glu356Glu] 1092 .. 1092 C/T rs201093218 + CDS Synonymous[Leu364Leu] 1130 .. 1130 C/T rs199714082 + CDS Nonsynonymous[Ala377Val] 1139 .. 1139 C/A rs143912759 + CDS Nonsynonymous[Thr380Lys] 1148 .. 1148 G/A rs145671982 + CDS Nonsynonymous[Gly383Glu] 1149 .. 1149 G/C rs201772526 + CDS Synonymous[Gly383Gly] 1152 .. 1152 C/G rs199550349 + CDS Nonsynonymous[Asp384Glu] 1156 .. 1156 A/C rs149172004 + CDS Nonsynonymous[Asn386His] 1163 .. 1163 C/T rs143549266 + CDS Nonsynonymous[Thr388Met] 1176 .. 1176 C/T rs115652716 + CDS Synonymous[Phe392Phe] 1177 .. 1177 G/A rs142690225 + CDS Nonsynonymous[Val393Met] 1200 .. 1200 T/C rs138494303 + CDS Synonymous[Cys400Cys] 1236 .. 1236 G/A rs201982084 + CDS Synonymous[Ala412Ala] 1240 .. 1240 C/T rs200427880 + CDS Nonsynonymous[Pro414Ser] 1243 .. 1243 G/A rs201494033 + CDS Nonsynonymous[Ala415Thr] 1252 .. 1252 A/G rs199796978 + CDS Nonsynonymous[Ile418Val] 1266 .. 1266 C/T rs200169735 + CDS Synonymous[Phe422Phe] 1284 .. 1284 C/T rs144318314 + CDS Synonymous[Phe428Phe] 1289 .. 1289 C/T rs63750666 + CDS Nonsynonymous[Thr430Met] 1294 .. 1294 A/C rs199676786 + CDS Nonsynonymous[Asn432His] 1303 .. 1303 C/T rs142772982 + CDS Nonsynonymous[Arg435Trp] 1304 .. 1304 G/A rs201922151 + CDS Nonsynonymous[Arg435Gln] 1308 .. 1308 G/A rs199547508 + CDS Synonymous[Pro436Pro] 1312 .. 1312 A/G rs200804459 + CDS Nonsynonymous[Met438Val] 1316 .. 1316 A/C rs63750110 + CDS Nonsynonymous[Asp439Ala] 1317 .. 1317 C/T rs201424233 + CDS Synonymous[Asp439Asp] 1330 .. 1330 C/T rs151048692 + CDS Nonsynonymous[His444Tyr]  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;