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H-Invitational ID: HIT000038083 Accession number: BC017699 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Gamma-secretase subunit APH-1A isoform 2.

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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 1 .. 1 C/T rs201500039 - 5'UTR 18 .. 18 A/G rs200566570 - 5'UTR 24 .. 24 C/T rs201956935 - 5'UTR 28 .. 28 G/A rs201145618 - 5'UTR 62 .. 62 A/T rs200412198 - 5'UTR 71 .. 71 C/T rs201855950 - 5'UTR 114 .. 114 C/T rs201013896 - 5'UTR 116 .. 116 C/A rs2275780 - 5'UTR 117 .. 117 C/G rs181092416 - 5'UTR 124 .. 124 A/C rs201108747 - 5'UTR 127 .. 127 T/C rs200128905 - 5'UTR 146 .. 146 C/T rs201630308 - CDS Nonsynonymous[Ala4Val] 164 .. 164 C/T rs11548266 + CDS Nonsynonymous[Thr10Ile] 171 .. 171 C/G rs200745916 - CDS Synonymous[Val12Val] 172 .. 172 G/A rs199961673 - CDS Nonsynonymous[Ala13Thr] 183 .. 183 G/T rs201823216 - CDS Synonymous[Pro16Pro] 186 .. 186 C/T rs112321698 - CDS Synonymous[Ala17Ala] 271 .. 271 C/T rs1132746 + CDS Synonymous[Leu46Leu] 277 .. 277 C/T rs200730753 - CDS Synonymous[Leu48Leu] 286 .. 286 G/A rs199775906 - CDS Nonsynonymous[Val51Met] 387 .. 387 G/A rs201613749 - CDS Synonymous[Glu84Glu] 441 .. 441 A/G rs199977984 - CDS Synonymous[Ala102Ala] 510 .. 510 C/T rs201257450 - CDS Synonymous[Phe125Phe] 645 .. 645 C/T rs202221454 - CDS Synonymous[Leu170Leu] 672 .. 672 T/C rs201620153 - CDS Synonymous[Phe179Phe] 716 .. 716 T/C rs200325781 - CDS Nonsynonymous[Val194Ala] 726 .. 726 C/T rs202029718 - CDS Synonymous[His197His] 735 .. 735 A/T rs201096173 - CDS Synonymous[Thr200Thr] 738 .. 738 G/T rs201219308 - CDS Synonymous[Ser201Ser] 741 .. 741 A/C rs2275778 - CDS Synonymous[Gly202Gly] 742 .. 742 C/T rs201939644 - CDS Synonymous[Leu203Leu] 750 .. 750 C/T rs199803918 - CDS Synonymous[Phe205Phe] 786 .. 786 C/T rs9658939 - CDS Synonymous[Ile217Ile] 813 .. 813 C/T rs9658936 - CDS Synonymous[Leu226Leu] 841 .. 841 C/A rs17849449 - CDS Nonsynonymous[Leu236Ile] 859 .. 859 A/T rs200511495 - CDS Nonsynonymous[Ser242Cys] 889 .. 889 C/A rs199619627 - 3'UTR 909 .. 909 A/C rs201680381 - 3'UTR 925 .. 925 C/G rs200520312 - 3'UTR 928 .. 928 A/G rs199525322 - 3'UTR 951 .. 951 G/T rs11548265 + 3'UTR 977 .. 977 C/G rs201312925 - 3'UTR 984 .. 984 G/T rs200341358 - 3'UTR 987 .. 987 G/A rs202129693 - 3'UTR 999 .. 999 T/A rs201197613 - 3'UTR 1033 .. 1033 G/A rs200328242 - 3'UTR 1102 .. 1102 A/G rs11548267 + 3'UTR 1105 .. 1105 T/G rs201254525 - 3'UTR 1115 .. 1115 A/C rs200103315 - 3'UTR 1136 .. 1136 G/T rs201320142 - 3'UTR 1142 .. 1142 G/A rs200787005 - 3'UTR 1143 .. 1143 A/G rs200019445 - 3'UTR 1147 .. 1147 C/G rs201541795 - 3'UTR 1152 .. 1152 G/C rs200707145 - 3'UTR 1156 .. 1156 C/T rs199517322 - 3'UTR 1180 .. 1180 A/G rs201687616 - 3'UTR 1208 .. 1208 C/G rs74126634 - 3'UTR 1228 .. 1228 G/C/A rs71622685 - 3'UTR 1230 .. 1230 G/A rs201553051 - 3'UTR 1286 .. 1286 G/A rs200240863 - 3'UTR 1311 .. 1311 T/A rs199646767 - 3'UTR 1321 .. 1321 G/A rs201411127 - 3'UTR 1374 .. 1374 G/A rs200528248 - 3'UTR 1421 .. 1421 G/C rs202091565 - 3'UTR 1444 .. 1444 C/G rs201035904 - 3'UTR 1445 .. 1445 A/G rs200432613 - 3'UTR 1519 .. 1519 C/T rs201855910 - 3'UTR 1521 .. 1521 C/A rs201013519 - 3'UTR 1522 .. 1522 T/C rs199926282 - 3'UTR 1528 .. 1528 G/T rs201754927 - 3'UTR 1548 .. 1548 G/T rs201261520 - 3'UTR 1550 .. 1550 G/T/C rs189623935 - 3'UTR 1552 .. 1552 G/T rs201818552 - 3'UTR 1562 .. 1562 G/A rs200654934 - 3'UTR 1611 .. 1611 C/T rs199961462 - 3'UTR 1620 .. 1620 C/G rs201826227 - 3'UTR 1635 .. 1635 C/T rs200779875 - 3'UTR 1640 .. 1640 C/T/G rs184760849 - 3'UTR 1641 .. 1641 G/A rs145520277 - 3'UTR 1704 .. 1704 C/T rs141869795 - 3'UTR 1726 .. 1726 A/T rs199703472 - 3'UTR 1748 .. 1748 C/T rs201778614 - 3'UTR 1750 .. 1750 T/C rs200242333 - 3'UTR 1763 .. 1763 G/C rs201790284 - 3'UTR 1785 .. 1785 G/A rs201164589 - 3'UTR 1794 .. 1794 A/G rs200373203 - 3'UTR 1810 .. 1810 G/A rs201624411 - 3'UTR 1832 .. 1832 C/T rs201040334 - 3'UTR 1834 .. 1834 T/A rs200032971 - 3'UTR 1841 .. 1841 G/A rs202107491 - 3'UTR 1855 .. 1855 G/A rs201358832 - 3'UTR 1859 .. 1859 T/C rs192534646 - 3'UTR 1868 .. 1868 A/T rs3209394 + 3'UTR 1869 .. 1869 G/T rs3209395 + 3'UTR 1882 .. 1882 G/C rs200690018 - 3'UTR 1895 .. 1895 G/A rs200102444 - 3'UTR 1973 .. 1973 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;