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H-Invitational ID: HIT000037190 Accession number: BC015568 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor;

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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 5 .. 5 T/C rs200721652 - 5'UTR 6 .. 6 C/T rs199768691 - 5'UTR 9 .. 9 C/A rs201552876 - 5'UTR 10 .. 10 C/G rs200241539 - 5'UTR 15 .. 15 C/T/A rs199642580 - 5'UTR 24 .. 24 C/T rs201500039 - 5'UTR 41 .. 41 A/G rs200566570 - 5'UTR 47 .. 47 C/T rs201956935 - 5'UTR 51 .. 51 G/A rs201145618 - 5'UTR 85 .. 85 A/T rs200412198 - 5'UTR 94 .. 94 C/T rs201855950 - 5'UTR 137 .. 137 C/T rs201013896 - 5'UTR 139 .. 139 C/A rs2275780 - 5'UTR 140 .. 140 C/G rs181092416 - 5'UTR 147 .. 147 A/C rs201108747 - 5'UTR 150 .. 150 T/C rs200128905 - 5'UTR 169 .. 169 C/T rs201630308 - CDS Nonsynonymous[Ala4Val] 187 .. 187 C/T rs11548266 + CDS Nonsynonymous[Thr10Ile] 194 .. 194 C/G rs200745916 - CDS Synonymous[Val12Val] 195 .. 195 G/A rs199961673 - CDS Nonsynonymous[Ala13Thr] 206 .. 206 G/T rs201823216 - CDS Synonymous[Pro16Pro] 209 .. 209 C/T rs112321698 - CDS Synonymous[Ala17Ala] 294 .. 294 C/T rs1132746 + CDS Synonymous[Leu46Leu] 300 .. 300 C/T rs200730753 - CDS Synonymous[Leu48Leu] 309 .. 309 G/A rs199775906 - CDS Nonsynonymous[Val51Met] 410 .. 410 G/A rs201613749 - CDS Synonymous[Glu84Glu] 464 .. 464 A/G rs199977984 - CDS Synonymous[Ala102Ala] 533 .. 533 C/T rs201257450 - CDS Synonymous[Phe125Phe] 668 .. 668 C/T rs202221454 - CDS Synonymous[Leu170Leu] 695 .. 695 T/C rs201620153 - CDS Synonymous[Phe179Phe] 739 .. 739 T/C rs200325781 - CDS Nonsynonymous[Val194Ala] 749 .. 749 C/T rs202029718 - CDS Synonymous[His197His] 758 .. 758 A/T rs201096173 - CDS Synonymous[Thr200Thr] 761 .. 761 G/T rs201219308 - CDS Synonymous[Ser201Ser] 764 .. 764 A/C rs2275778 - CDS Synonymous[Gly202Gly] 765 .. 765 C/T rs201939644 - CDS Synonymous[Leu203Leu] 773 .. 773 C/T rs199803918 - CDS Synonymous[Phe205Phe] 809 .. 809 C/T rs9658939 - CDS Synonymous[Ile217Ile] 836 .. 836 C/T rs9658936 - CDS Synonymous[Leu226Leu] 864 .. 864 C/A rs17849449 - CDS Nonsynonymous[Leu236Ile] 882 .. 882 A/T rs200511495 - CDS Nonsynonymous[Ser242Cys] 893 .. 893 C/G rs74126634 - CDS Nonsynonymous[Cys245Trp] 913 .. 913 G/C/A rs71622685 - CDS 915 .. 915 G/A rs201553051 - CDS Nonsynonymous[Val253Met] 971 .. 971 G/A rs200240863 - 3'UTR 996 .. 996 T/A rs199646767 - 3'UTR 1006 .. 1006 G/A rs201411127 - 3'UTR 1059 .. 1059 G/A rs200528248 - 3'UTR 1106 .. 1106 G/C rs202091565 - 3'UTR 1129 .. 1129 C/G rs201035904 - 3'UTR 1130 .. 1130 A/G rs200432613 - 3'UTR 1204 .. 1204 C/T rs201855910 - 3'UTR 1206 .. 1206 C/A rs201013519 - 3'UTR 1207 .. 1207 T/C rs199926282 - 3'UTR 1213 .. 1213 G/T rs201754927 - 3'UTR 1233 .. 1233 G/T rs201261520 - 3'UTR 1235 .. 1235 G/T/C rs189623935 - 3'UTR 1237 .. 1237 G/T rs201818552 - 3'UTR 1247 .. 1247 G/A rs200654934 - 3'UTR 1296 .. 1296 C/T rs199961462 - 3'UTR 1305 .. 1305 C/G rs201826227 - 3'UTR 1320 .. 1320 C/T rs200779875 - 3'UTR 1325 .. 1325 C/T/G rs184760849 - 3'UTR 1326 .. 1326 G/A rs145520277 - 3'UTR 1389 .. 1389 C/T rs141869795 - 3'UTR 1411 .. 1411 A/T rs199703472 - 3'UTR 1433 .. 1433 C/T rs201778614 - 3'UTR 1435 .. 1435 T/C rs200242333 - 3'UTR 1448 .. 1448 G/C rs201790284 - 3'UTR 1470 .. 1470 G/A rs201164589 - 3'UTR 1479 .. 1479 A/G rs200373203 - 3'UTR 1495 .. 1495 G/A rs201624411 - 3'UTR 1517 .. 1517 C/T rs201040334 - 3'UTR 1519 .. 1519 T/A rs200032971 - 3'UTR 1526 .. 1526 G/A rs202107491 - 3'UTR 1540 .. 1540 G/A rs201358832 - 3'UTR 1544 .. 1544 T/C rs192534646 - 3'UTR 1553 .. 1553 A/T rs3209394 + 3'UTR 1554 .. 1554 G/T rs3209395 + 3'UTR 1567 .. 1567 G/C rs200690018 - 3'UTR 1580 .. 1580 G/A rs200102444 - 3'UTR 1658 .. 1658 T/C rs202078358 - 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  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;