H-InvDB_9.0 released on May 27, 2015. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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H-Invitational ID: HIT000032787 Accession number: BC006365 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 6 .. 6 A/G rs6665033 + 5'UTR 9 .. 9 G/A/T rs201106517 + 5'UTR 12 .. 12 G/A rs202060347 + 5'UTR 40 .. 40 T/A rs200232829 + 5'UTR 43 .. 43 A/G rs201559176 + 5'UTR 46 .. 46 A/G rs199762553 + 5'UTR 47 .. 47 A/C rs191052430 + 5'UTR 48 .. 48 C/T rs201515227 + 5'UTR 66 .. 66 C/T rs199532840 + 5'UTR 69 .. 69 C/T rs1295645 + 5'UTR 93 .. 93 A/G rs201552337 + 5'UTR 97 .. 97 G/A rs199696668 + 5'UTR 102 .. 102 C/T rs145582210 + 5'UTR 124 .. 124 C/T rs201316014 + 5'UTR 132 .. 132 G/T rs200165480 + 5'UTR 138 .. 138 C/T rs200954447 + 5'UTR 160 .. 160 C/T rs149590162 + 5'UTR 180 .. 180 G/A rs200591275 + 5'UTR 195 .. 195 T/C rs201494032 + 5'UTR 205 .. 205 C/T rs199632838 + 5'UTR 206 .. 206 G/A rs200305467 + 5'UTR 212 .. 212 A/G rs201300501 + 5'UTR 221 .. 221 G/A rs112062360 + 5'UTR 223 .. 223 T/C rs199803697 + 5'UTR 262 .. 262 T/C rs200607063 + 5'UTR 287 .. 287 C/T rs201111506 + 5'UTR 301 .. 301 C/T rs7961 + 5'UTR 306 .. 306 C/T rs200982557 + 5'UTR 307 .. 307 G/A rs201820913 + 5'UTR 323 .. 323 G/T rs200034334 + 5'UTR 333 .. 333 C/G rs202107545 + 5'UTR 335 .. 335 C/T rs183725807 + 5'UTR 348 ^ 349 -/CTCTGGACAGCGATCACTCAGC rs71898714 + 5'UTR 358 .. 358 C/T rs200284833 + 5'UTR 359 .. 359 G/A rs201092952 + 5'UTR 376 ^ 377 -/ACAG rs67600172 + 5'UTR 380 .. 380 C/A/T rs201672346 + 5'UTR 381 .. 381 G/A/T rs142421813 + 5'UTR 394 .. 394 C/T rs201497323 + 5'UTR 415 .. 415 A/G rs199636705 + 5'UTR 424 .. 424 A/C rs200656386 + 5'UTR 428 .. 428 C/T rs201390077 + 5'UTR 434 ^ 435 -/CTCAGCCTCTGGACAGCGATCA rs147693123 + 5'UTR 447 .. 447 C/G rs199732302 + 5'UTR 448 .. 448 A/G rs200716541 + 5'UTR 450 .. 450 C/T rs201715744 + 5'UTR 457 .. 457 T/G rs199881162 + 5'UTR 459 .. 459 A/G rs200819815 + 5'UTR 469 .. 469 C/G rs201827429 + 5'UTR 472 .. 472 C/T rs200044432 + 5'UTR 476 .. 476 C/A rs6673248 + 5'UTR 485 .. 485 T/G rs202112948 + 5'UTR 489 ^ 490 -/GACAGCGATAACTCAGCCTCTG rs67962302 + 5'UTR 498 .. 498 A/C rs200137699 + 5'UTR 505 .. 505 C/T rs200922381 + 5'UTR 506 .. 506 C/T rs201788938 + 5'UTR 511 .. 511 T/G rs200228068 + 5'UTR 515 .. 515 C/T rs201378322 + 5'UTR 516 .. 516 G/A rs202111966 + 5'UTR 548 .. 548 C/T rs200459699 + CDS Nonsynonymous[Ala9Val] 554 .. 554 A/G rs201403983 + CDS Nonsynonymous[His11Arg] 565 .. 565 T/A rs45500296 + CDS Nonsynonymous[Phe15Ile] 572 .. 572 C/T rs199538648 + CDS Nonsynonymous[Pro17Leu] 574 .. 574 G/T rs111567390 + CDS Nonsynonymous[Ala18Ser] 625 .. 625 C/G rs199739625 + CDS Nonsynonymous[Leu35Val] 647 .. 647 G/A rs200878942 + CDS Nonsynonymous[Ser42Asn] 648 .. 648 C/T rs201692678 + CDS Synonymous[Ser42Ser] 670 .. 670 C/T rs199644116 + CDS Nonsynonymous[Arg50Trp] 674 .. 674 C/T rs143061887 + CDS Nonsynonymous[Thr51Met] 675 .. 675 G/A rs201018913 + CDS Synonymous[Thr51Thr] 690 .. 690 C/T rs11405 + CDS Synonymous[Ala56Ala] 700 .. 700 A/G rs147326133 + CDS Nonsynonymous[Thr60Ala] 701 .. 701 C/T rs149354305 + CDS Nonsynonymous[Thr60Met] 702 .. 702 G/A rs144696679 + CDS Synonymous[Thr60Thr] 706 .. 706 C/T rs142892469 + CDS Nonsynonymous[Arg62Cys] 710 .. 710 C/T rs200037771 + CDS Nonsynonymous[Ser63Phe] 721 .. 721 G/A rs200636353 + CDS Nonsynonymous[Gly67Ser] 732 .. 732 C/T rs139309459 + CDS Synonymous[Gly70Gly] 750 .. 750 T/C rs6759 + CDS Synonymous[Asn76Asn] 751 .. 751 A/G rs200535276 + CDS Nonsynonymous[Thr77Ala] 753 .. 753 T/A rs143227762 + CDS Synonymous[Thr77Thr] 770 .. 770 A/G rs143501870 + CDS Nonsynonymous[Gln83Arg] 783 .. 783 G/C rs146894466 + CDS Nonsynonymous[Glu87Asp] 786 .. 786 C/T rs139332886 + CDS Synonymous[Asp88Asp] 787 .. 787 G/A rs188598190 + CDS Nonsynonymous[Gly89Ser] 804 .. 804 C/T rs201261403 + CDS Synonymous[Asp94Asp] 805 .. 805 C/T rs150400387 + CDS Nonsynonymous[Arg95Cys] 806 .. 806 G/A rs58973334 + CDS Nonsynonymous[Arg95His] 813 .. 813 C/T rs201272715 + CDS Synonymous[Val97Val] 826 .. 826 C/G/T rs202133351 + CDS 827 .. 827 C/G rs199968912 + CDS Nonsynonymous[Pro102Arg] 828 .. 828 C/T rs142546082 + CDS Synonymous[Pro102Pro] 829 .. 829 G/A rs139972151 + CDS Nonsynonymous[Gly103Arg] 832 .. 832 C/T rs140501902 + CDS Nonsynonymous[Arg104Trp] 875 .. 875 C/T rs63750048 + CDS Nonsynonymous[Ala118Val] 882 .. 882 T/C rs1046240 + CDS Synonymous[His120His] 900 .. 900 G/C rs200350640 + CDS Synonymous[Val126Val] 915 .. 915 C/T rs146718524 + CDS Synonymous[Cys131Cys] 921 .. 921 C/T rs200801915 + CDS Synonymous[Ile133Ile] 949 .. 949 C/T rs199808788 + CDS Nonsynonymous[Arg143Cys] 957 .. 957 C/T rs200610057 + CDS Synonymous[Tyr145Tyr] 969 .. 969 T/C rs201119121 + CDS Synonymous[Asn149Asn] 985 .. 985 A/C rs63749851 + CDS Nonsynonymous[Thr155Pro] 986 .. 986 C/G rs28936380 + CDS Nonsynonymous[Thr155Arg] 987 .. 987 G/A rs148996705 + CDS Synonymous[Thr155Thr] 1010 .. 1010 C/T rs63750197 + CDS Nonsynonymous[Ser163Leu] 1032 .. 1032 C/T rs200924879 + CDS Synonymous[Asn170Asn] 1036 .. 1036 G/A rs202178897 + CDS Nonsynonymous[Val172Met] 1042 .. 1042 A/T rs61761208 + CDS Nonsynonymous[Asn174Tyr] 1043 .. 1043 A/T rs63750215 + CDS Nonsynonymous[Asn174Ile] 1044 .. 1044 C/T rs116003409 + CDS Synonymous[Asn174Asn] 1045 .. 1045 A/T rs201590095 + CDS Nonsynonymous[Thr175Ser] 1050 .. 1050 C/T rs201196514 + CDS Synonymous[Leu176Leu] 1060 .. 1060 A/G rs201892898 + CDS Nonsynonymous[Ser180Gly] 1062 .. 1062 C/T rs114334281 + CDS Synonymous[Ser180Ser] 1063 .. 1063 G/A rs63750812 + CDS Nonsynonymous[Val181Ile] 1076 .. 1076 T/C rs199654606 + CDS Nonsynonymous[Met185Thr] 1081 .. 1081 A/G rs139573101 + CDS Nonsynonymous[Ile187Val] 1108 .. 1108 C/A rs200931244 + CDS Nonsynonymous[Arg196Ser] 1141 .. 1141 A/G rs61757781 + CDS Nonsynonymous[Met207Val] 1158 .. 1158 G/A rs201896763 + CDS Synonymous[Leu212Leu] 1172 .. 1172 C/T rs200210453 + CDS Nonsynonymous[Thr217Ile] 1191 .. 1191 A/C rs202176021 + CDS Nonsynonymous[Glu223Asp] 1205 .. 1205 A/G rs200410369 + CDS Nonsynonymous[Tyr228Cys] 1209 .. 1209 T/C rs144629723 + CDS Synonymous[Asn229Asn] 1252 .. 1252 T/G rs201671829 + CDS Nonsynonymous[Phe244Val] 1254 .. 1254 C/T rs199760083 + CDS Synonymous[Phe244Phe] 1255 .. 1255 G/A rs200173519 + CDS Nonsynonymous[Gly245Arg] 1263 .. 1263 G/T rs190477948 + CDS Synonymous[Val247Val] 1304 .. 1304 A/T rs63750880 + CDS Nonsynonymous[Gln261Leu] 1311 .. 1311 C/G rs145010538 + CDS Synonymous[Ala263Ala] 1313 .. 1313 A/G rs200754713 + CDS Nonsynonymous[Tyr264Cys] 1318 .. 1318 A/G rs201908554 + CDS Nonsynonymous[Ile266Val] 1329 .. 1329 T/C rs61730652 + CDS Synonymous[Ser269Ser] 1331 .. 1331 C/T rs200670135 + CDS Nonsynonymous[Ala270Val] 1332 .. 1332 G/A rs202003390 + CDS Synonymous[Ala270Ala] 1336 .. 1336 A/G rs28936379 + CDS Nonsynonymous[Met272Val] 1338 .. 1338 G/A rs63749884 + CDS Nonsynonymous[Met272Ile] 1346 .. 1346 T/C rs200133314 + CDS Nonsynonymous[Val275Ala] 1360 .. 1360 C/T rs140562931 + CDS Nonsynonymous[Leu280Phe] 1365 .. 1365 A/G rs145400391 + CDS Synonymous[Pro281Pro] 1374 .. 1374 C/T rs200332829 + CDS Synonymous[Ser284Ser] 1375 .. 1375 G/A rs138836272 + CDS Nonsynonymous[Ala285Thr] 1376 .. 1376 C/T rs201403206 + CDS Nonsynonymous[Ala285Val] 1377 .. 1377 G/C rs147702142 + CDS Synonymous[Ala285Ala] 1384 .. 1384 A/T rs201292728 + CDS Nonsynonymous[Ile288Phe] 1392 .. 1392 C/T rs7539017 + CDS Synonymous[Gly290Gly] 1393 .. 1393 G/A/T rs148238688 + CDS 1402 .. 1402 G/C rs201055590 + CDS Nonsynonymous[Val294Leu] 1404 .. 1404 G/A rs202210060 + CDS Synonymous[Val294Val] 1411 .. 1411 C/T rs200694973 + CDS Nonsynonymous[Leu297Phe] 1413 .. 1413 C/G rs77875620 + CDS Synonymous[Leu297Leu] 1414 .. 1414 G/A rs199707432 + CDS Nonsynonymous[Val298Met] 1419 .. 1419 T/C rs200644982 + CDS Synonymous[Ala299Ala] 1421 .. 1421 T/G rs77421307 + CDS Nonsynonymous[Val300Gly] 1425 .. 1425 G/C rs201606093 + CDS Synonymous[Leu301Leu] 1475 .. 1475 A/G rs150780392 + CDS Nonsynonymous[Asn318Ser] 1482 .. 1482 C/T rs75733498 + CDS Synonymous[Pro320Pro] 1498 .. 1498 A/T rs199689738 + CDS Nonsynonymous[Ile326Leu] 1505 .. 1505 C/T rs200668817 + CDS Nonsynonymous[Ser328Leu] 1523 .. 1523 C/T rs144277432 + CDS Nonsynonymous[Thr334Met] 1524 .. 1524 G/A/T rs6426553 + CDS 1535 .. 1535 C/T rs200501733 + CDS Nonsynonymous[Ala338Val] 1536 .. 1536 G/A rs75357954 + CDS Synonymous[Ala338Ala] 1548 .. 1548 C/T rs200326485 + CDS Synonymous[Pro342Pro] 1568 .. 1568 A/G rs201778576 + CDS Nonsynonymous[Gln349Arg] 1575 .. 1575 C/T rs199587016 + CDS Synonymous[Pro351Pro] 1579 .. 1579 G/A rs141094783 + CDS Nonsynonymous[Asp353Asn] 1614 .. 1614 T/C/G rs200044441 + CDS 1622 .. 1622 C/G rs63750207 + CDS Nonsynonymous[Pro367Arg] 1636 .. 1636 G/A rs201917728 + CDS Nonsynonymous[Val372Ile] 1644 .. 1644 G/A rs199881176 + CDS Synonymous[Glu374Glu] 1670 .. 1670 A/G rs78420366 + CDS Nonsynonymous[Glu383Gly] 1689 .. 1689 G/A rs200977587 + CDS Synonymous[Glu389Glu] 1713 .. 1713 C/T rs201093218 + CDS Synonymous[Leu397Leu] 1751 .. 1751 C/T rs199714082 + CDS Nonsynonymous[Ala410Val] 1760 .. 1760 C/A rs143912759 + CDS Nonsynonymous[Thr413Lys] 1769 .. 1769 G/A rs145671982 + CDS Nonsynonymous[Gly416Glu] 1770 .. 1770 G/C rs201772526 + CDS Synonymous[Gly416Gly] 1773 .. 1773 C/G rs199550349 + CDS Nonsynonymous[Asp417Glu] 1777 .. 1777 A/C rs149172004 + CDS Nonsynonymous[Asn419His] 1784 .. 1784 C/T rs143549266 + CDS Nonsynonymous[Thr421Met] 1797 .. 1797 C/T rs115652716 + CDS Synonymous[Phe425Phe] 1798 .. 1798 G/A rs142690225 + CDS Nonsynonymous[Val426Met] 1821 .. 1821 T/C rs138494303 + CDS Synonymous[Cys433Cys] 1857 .. 1857 G/A rs201982084 + CDS Synonymous[Ala445Ala] 1861 .. 1861 C/T rs200427880 + CDS Nonsynonymous[Pro447Ser] 1864 .. 1864 G/A rs201494033 + CDS Nonsynonymous[Ala448Thr] 1873 .. 1873 A/G rs199796978 + CDS Nonsynonymous[Ile451Val] 1887 .. 1887 C/T rs200169735 + CDS Synonymous[Phe455Phe] 1905 .. 1905 C/T rs144318314 + CDS Synonymous[Phe461Phe] 1910 .. 1910 C/T rs63750666 + CDS Nonsynonymous[Thr463Met] 1915 .. 1915 A/C rs199676786 + CDS Nonsynonymous[Asn465His] 1924 .. 1924 C/T rs142772982 + CDS Nonsynonymous[Arg468Trp] 1925 .. 1925 G/A rs201922151 + CDS Nonsynonymous[Arg468Gln] 1929 .. 1929 G/A rs199547508 + CDS Synonymous[Pro469Pro] 1933 .. 1933 A/G rs200804459 + CDS Nonsynonymous[Met471Val] 1937 .. 1937 A/C rs63750110 + CDS Nonsynonymous[Asp472Ala] 1938 .. 1938 C/T rs201424233 + CDS Synonymous[Asp472Asp] 1951 .. 1951 C/T rs151048692 + CDS Nonsynonymous[His477Tyr] 1971 .. 1971 G/A rs200164062 + 3'UTR 1986 .. 1986 A/G rs200745703 + 3'UTR 1988 .. 1988 G/A rs201399057 + 3'UTR 2012 .. 2012 T/C rs200016565 + 3'UTR 2049 .. 2049 A/T rs200943229 + 3'UTR 2062 .. 2062 T/C rs202239448 + 3'UTR 2088 .. 2088 G/A rs143059995 + 3'UTR 2100 .. 2100 T/C rs186288674 + 3'UTR 2110 .. 2110 G/A rs201163703 + 3'UTR 2156 .. 2156 C/T rs202067223 + 3'UTR 2158 .. 2158 C/A rs200407641 + 3'UTR 2161 .. 2161 G/A/C rs201559102 + 3'UTR 2173 .. 2173 G/A rs199571588 + 3'UTR 2178 .. 2178 G/A rs200296479 + 3'UTR 2184 .. 2184 C/T rs201488196 + 3'UTR 2185 .. 2185 G/A rs199791100 + 3'UTR 2206 .. 2206 T/C rs200615414 + 3'UTR 2238 .. 2238 T/C rs8383 + 3'UTR 2252 .. 2252 T/A rs199645229 + 3'UTR 2255 .. 2255 G/A rs200641411 + 3'UTR 2258 .. 2258 A/T rs201605500 + 3'UTR 2274 .. 2274 G/A rs145129440 + 3'UTR 2280 .. 2280 A/C rs200559114 + 3'UTR 2281 .. 2281 G/A rs201773209 + 3'UTR 2288 .. 2288 C/T rs200161165 + 3'UTR 2310 .. 2310 G/T rs200923178 + 3'UTR 2319 .. 2319 G/A rs202178096 + 3'UTR 2330 .. 2330 A/G rs199949722 + 3'UTR 2344 .. 2344 A/G rs201114015 + 3'UTR 2345 .. 2345 C/T rs202160009 + 3'UTR 2346 .. 2346 G/C rs200173939 + 3'UTR 2360 .. 2360 A/G rs201510179 + 3'UTR 2373 .. 2373 G/T rs116807339 + 3'UTR 2382 .. 2382 G/A rs200536369 + 3'UTR 2409 .. 2409 T/G rs201603449 + 3'UTR 2422 .. 2422 A/T rs199579988 + 3'UTR 2423 .. 2423 C/T rs200568747 + 3'UTR 2434 .. 2434 C/T rs191115973 + 3'UTR 2447 .. 2447 G/T rs201177570 + 3'UTR 2455 .. 2455 G/C rs7962 + 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 MIR3 33 148 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;