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H-Invitational ID: HIT000079309 Accession number: AF416718 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to 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 12 .. 12 C/T rs201111506 + 5'UTR 26 .. 26 C/T rs7961 + 5'UTR 31 .. 31 C/T rs200982557 + 5'UTR 32 .. 32 G/A rs201820913 + 5'UTR 48 .. 48 G/T rs200034334 + 5'UTR 72 .. 72 C/G rs199739625 + CDS Nonsynonymous[Leu2Val] 94 .. 94 G/A rs200878942 + CDS Nonsynonymous[Ser9Asn] 95 .. 95 C/T rs201692678 + CDS Synonymous[Ser9Ser] 117 .. 117 C/T rs199644116 + CDS Nonsynonymous[Arg17Trp] 121 .. 121 C/T rs143061887 + CDS Nonsynonymous[Thr18Met] 122 .. 122 G/A rs201018913 + CDS Synonymous[Thr18Thr] 137 .. 137 C/T rs11405 + CDS Synonymous[Ala23Ala] 147 .. 147 A/G rs147326133 + CDS Nonsynonymous[Thr27Ala] 148 .. 148 C/T rs149354305 + CDS Nonsynonymous[Thr27Met] 149 .. 149 G/A rs144696679 + CDS Synonymous[Thr27Thr] 153 .. 153 C/T rs142892469 + CDS Nonsynonymous[Arg29Cys] 157 .. 157 C/T rs200037771 + CDS Nonsynonymous[Ser30Phe] 168 .. 168 G/A rs200636353 + CDS Nonsynonymous[Gly34Ser] 179 .. 179 C/T rs139309459 + CDS Synonymous[Gly37Gly] 197 .. 197 C/T rs6759 + CDS Synonymous[Asn43Asn] 198 .. 198 A/G rs200535276 + CDS Nonsynonymous[Thr44Ala] 200 .. 200 T/A rs143227762 + CDS Synonymous[Thr44Thr] 217 .. 217 A/G rs143501870 + CDS Nonsynonymous[Gln50Arg] 230 .. 230 G/C rs146894466 + CDS Nonsynonymous[Glu54Asp] 233 .. 233 C/T rs139332886 + CDS Synonymous[Asp55Asp] 234 .. 234 G/A rs188598190 + CDS Nonsynonymous[Gly56Ser] 251 .. 251 C/T rs201261403 + CDS Synonymous[Asp61Asp] 252 .. 252 C/T rs150400387 + CDS Nonsynonymous[Arg62Cys] 253 .. 253 G/A rs58973334 + CDS Nonsynonymous[Arg62His] 260 .. 260 C/T rs201272715 + CDS Synonymous[Val64Val] 273 .. 273 C/G/T rs202133351 + CDS 274 .. 274 C/G rs199968912 + CDS Nonsynonymous[Pro69Arg] 275 .. 275 C/T rs142546082 + CDS Synonymous[Pro69Pro] 276 .. 276 G/A rs139972151 + CDS Nonsynonymous[Gly70Arg] 279 .. 279 C/T rs140501902 + CDS Nonsynonymous[Arg71Trp] 322 .. 322 C/T rs63750048 + CDS Nonsynonymous[Ala85Val] 329 .. 329 C/T rs1046240 + CDS Synonymous[His87His] 347 .. 347 G/C rs200350640 + CDS Synonymous[Val93Val] 362 .. 362 C/T rs146718524 + CDS Synonymous[Cys98Cys] 368 .. 368 C/T rs200801915 + CDS Synonymous[Ile100Ile] 396 .. 396 C/T rs199808788 + CDS Nonsynonymous[Arg110Cys] 404 .. 404 C/T rs200610057 + CDS Synonymous[Tyr112Tyr] 416 .. 416 T/C rs201119121 + CDS Synonymous[Asn116Asn] 432 .. 432 A/C rs63749851 + CDS Nonsynonymous[Thr122Pro] 433 .. 433 C/G rs28936380 + CDS Nonsynonymous[Thr122Arg] 434 .. 434 G/A rs148996705 + CDS Synonymous[Thr122Thr] 457 .. 457 C/T rs63750197 + CDS Nonsynonymous[Ser130Leu] 479 .. 479 C/T rs200924879 + CDS Synonymous[Asn137Asn] 483 .. 483 G/A rs202178897 + CDS Nonsynonymous[Val139Met] 489 .. 489 A/T rs61761208 + CDS Nonsynonymous[Asn141Tyr] 490 .. 490 A/T rs63750215 + CDS Nonsynonymous[Asn141Ile] 491 .. 491 C/T rs116003409 + CDS Synonymous[Asn141Asn] 492 .. 492 A/T rs201590095 + CDS Nonsynonymous[Thr142Ser] 497 .. 497 C/T rs201196514 + CDS Synonymous[Leu143Leu] 507 .. 507 A/G rs201892898 + CDS Nonsynonymous[Ser147Gly] 509 .. 509 C/T rs114334281 + CDS Synonymous[Ser147Ser] 510 .. 510 G/A rs63750812 + CDS Nonsynonymous[Val148Ile] 523 .. 523 T/C rs199654606 + CDS Nonsynonymous[Met152Thr] 528 .. 528 A/G rs139573101 + CDS Nonsynonymous[Ile154Val] 555 .. 555 C/A rs200931244 + CDS Nonsynonymous[Arg163Ser] 588 .. 588 A/G rs61757781 + CDS Nonsynonymous[Met174Val] 605 .. 605 G/A rs201896763 + CDS Synonymous[Leu179Leu] 619 .. 619 C/T rs200210453 + CDS Nonsynonymous[Thr184Ile] 638 .. 638 A/C rs202176021 + CDS Nonsynonymous[Glu190Asp] 652 .. 652 A/G rs200410369 + CDS Nonsynonymous[Tyr195Cys] 656 .. 656 T/C rs144629723 + CDS Synonymous[Asn196Asn] 699 .. 699 T/G rs201671829 + CDS Nonsynonymous[Phe211Val] 701 .. 701 C/T rs199760083 + CDS Synonymous[Phe211Phe] 702 .. 702 G/A rs200173519 + CDS Nonsynonymous[Gly212Arg] 710 .. 710 G/T rs190477948 + CDS Synonymous[Val214Val] 751 .. 751 A/T rs63750880 + CDS Nonsynonymous[Gln228Leu] 758 .. 758 C/G rs145010538 + CDS Synonymous[Ala230Ala] 760 .. 760 A/G rs200754713 + CDS Nonsynonymous[Tyr231Cys] 765 .. 765 A/G rs201908554 + CDS Nonsynonymous[Ile233Val] 776 .. 776 T/C rs61730652 + CDS Synonymous[Ser236Ser] 778 .. 778 C/T rs200670135 + CDS Nonsynonymous[Ala237Val] 779 .. 779 G/A rs202003390 + CDS Synonymous[Ala237Ala] 783 .. 783 A/G rs28936379 + CDS Nonsynonymous[Met239Val] 785 .. 785 G/A rs63749884 + CDS Nonsynonymous[Met239Ile] 793 .. 793 T/C rs200133314 + CDS Nonsynonymous[Val242Ala] 807 .. 807 C/T rs140562931 + CDS Nonsynonymous[Leu247Phe] 812 .. 812 A/G rs145400391 + CDS Synonymous[Pro248Pro] 821 .. 821 C/T rs200332829 + CDS Synonymous[Ser251Ser] 822 .. 822 G/A rs138836272 + CDS Nonsynonymous[Ala252Thr] 823 .. 823 C/T rs201403206 + CDS Nonsynonymous[Ala252Val] 824 .. 824 G/C rs147702142 + CDS Synonymous[Ala252Ala] 831 .. 831 A/T rs201292728 + CDS Nonsynonymous[Ile255Phe] 839 .. 839 C/T rs7539017 + CDS Synonymous[Gly257Gly] 840 .. 840 G/A/T rs148238688 + CDS 849 .. 849 G/C rs201055590 + CDS Nonsynonymous[Val261Leu] 851 .. 851 G/A rs202210060 + CDS Synonymous[Val261Val] 858 .. 858 C/T rs200694973 + CDS Nonsynonymous[Leu264Phe] 860 .. 860 C/G rs77875620 + CDS Synonymous[Leu264Leu] 861 .. 861 G/A rs199707432 + CDS Nonsynonymous[Val265Met] 866 .. 866 T/C rs200644982 + CDS Synonymous[Ala266Ala] 868 .. 868 T/G rs77421307 + CDS Nonsynonymous[Val267Gly] 872 .. 872 G/C rs201606093 + CDS Synonymous[Leu268Leu] 922 .. 922 A/G rs150780392 + CDS Nonsynonymous[Asn285Ser] 929 .. 929 C/T rs75733498 + CDS Synonymous[Pro287Pro] 945 .. 945 A/T rs199689738 + CDS Nonsynonymous[Ile293Leu] 952 .. 952 T/C rs200668817 + CDS Nonsynonymous[Leu295Ser] 970 .. 970 C/T rs144277432 + CDS Nonsynonymous[Thr301Met] 971 .. 971 G/A/T rs6426553 + CDS 982 .. 982 C/T rs200501733 + CDS Nonsynonymous[Ala305Val] 983 .. 983 G/A rs75357954 + CDS Synonymous[Ala305Ala] 995 .. 995 C/T rs200326485 + CDS Synonymous[Pro309Pro] 1015 .. 1015 A/G rs201778576 + CDS Nonsynonymous[Gln316Arg] 1022 .. 1022 C/T rs199587016 + CDS Synonymous[Pro318Pro] 1026 .. 1026 G/A rs141094783 + CDS Nonsynonymous[Asp320Asn] 1061 .. 1061 T/C/G rs200044441 + CDS 1069 .. 1069 C/G rs63750207 + CDS Nonsynonymous[Pro334Arg] 1083 .. 1083 G/A rs201917728 + CDS Nonsynonymous[Val339Ile] 1091 .. 1091 G/A rs199881176 + CDS Synonymous[Glu341Glu] 1117 .. 1117 A/G rs78420366 + CDS Nonsynonymous[Glu350Gly] 1136 .. 1136 G/A rs200977587 + CDS Synonymous[Glu356Glu] 1160 .. 1160 C/T rs201093218 + CDS Synonymous[Leu364Leu] 1198 .. 1198 C/T rs199714082 + CDS Nonsynonymous[Ala377Val] 1207 .. 1207 C/A rs143912759 + CDS Nonsynonymous[Thr380Lys] 1216 .. 1216 G/A rs145671982 + CDS Nonsynonymous[Gly383Glu] 1217 .. 1217 G/C rs201772526 + CDS Synonymous[Gly383Gly] 1220 .. 1220 C/G rs199550349 + CDS Nonsynonymous[Asp384Glu] 1224 .. 1224 A/C rs149172004 + CDS Nonsynonymous[Asn386His] 1231 .. 1231 C/T rs143549266 + CDS Nonsynonymous[Thr388Met]  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;