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H-Invitational ID: HIT000329711 Accession number: AB209776 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Proactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;

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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 C/T rs2070188 + 5'UTR 10 .. 10 A/T rs121918106 + CDS Nonsynonymous[Met1Leu] 25 .. 25 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe] 45 .. 45 C/G rs11555014 + CDS Synonymous[Gly12Gly] 57 .. 57 C/T rs199808371 - CDS Synonymous[Ala16Ala] 69 .. 69 T/C rs188252882 - CDS Synonymous[Leu20Leu] 76 .. 76 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu] 80 ^ 81 -/A rs34228343 - CDS 87 .. 87 C/T rs74145688 - CDS Synonymous[Thr26Thr] 92 .. 92 G/T rs185057837 - CDS Nonsynonymous[Gly28Val] 97 .. 97 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser] 103 .. 103 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly] 122 .. 122 C/T rs145181011 - CDS Nonsynonymous[Thr38Met] 126 .. 126 G/A rs200836594 - CDS Synonymous[Ala39Ala] 129 .. 129 C/T rs141231601 - CDS Synonymous[Ser40Ser] 156 .. 156 G/A rs112119208 - CDS Synonymous[Leu49Leu] 162 .. 162 C/T rs11555016 + CDS Synonymous[Thr51Thr] 163 .. 163 G/A rs147920923 - CDS Nonsynonymous[Val52Ile] 198 .. 198 C/T rs111369573 - CDS Synonymous[Cys63Cys] 213 .. 213 C/T rs143981174 - CDS Synonymous[Asp68Asp] 223 .. 223 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr] 226 .. 226 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr] 354 .. 354 T/G rs11555017 + CDS Synonymous[Pro115Pro] 367 .. 367 A/G rs142784765 - CDS Nonsynonymous[Ile120Val] 388 .. 388 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys] 497 .. 497 A/T rs146301708 - CDS Nonsynonymous[Asp163Val] 549 .. 549 C/T rs11555021 + CDS Synonymous[Tyr180Tyr] 558 .. 558 C/T rs142002239 - CDS Synonymous[Asp183Asp] 565 .. 565 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys] 566 .. 566 G/A rs138880818 - CDS Nonsynonymous[Arg186His] 574 .. 574 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser] 579 .. 579 G/T rs142272618 - CDS Nonsynonymous[Gln190His] 586 .. 586 G/C rs149305591 - CDS Nonsynonymous[Asp193His] 587 .. 587 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly] 591 .. 591 T/C rs150177878 - CDS Synonymous[Asn194Asn] 598 .. 598 G/A rs191952316 - CDS Nonsynonymous[Val197Ile] 625 .. 625 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala] 630 .. 630 C/T rs140702696 - CDS Synonymous[Asp207Asp] 632 .. 632 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser] 646 .. 646 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp] 652 .. 652 A/C rs121918107 + CDS Nonsynonymous[Asn215His] 659 .. 659 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile] 704 .. 704 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu] 706 .. 706 C/T/G rs146934980 - CDS 723 .. 723 C/G rs141199649 - CDS Synonymous[Ala238Ala] 731 .. 731 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser] 732 .. 732 C/T rs147805036 - CDS Synonymous[Cys241Cys] 741 .. 741 T/C rs146732171 - CDS Synonymous[Tyr244Tyr] 750 .. 750 G/T rs202069470 - CDS Nonsynonymous[Gln247His] 789 .. 789 G/C rs112041816 - CDS Nonsynonymous[Gln260His] 792 .. 792 T/A rs113827790 - CDS Nonsynonymous[Asp261Glu] 816 .. 816 G/A rs199672678 - CDS Synonymous[Ala269Ala] 840 .. 840 G/A rs149202005 - CDS Synonymous[Val277Val] 883 .. 883 T/C rs145404688 - CDS Nonsynonymous[Ser292Pro] 912 .. 912 G/A rs150048951 - CDS Synonymous[Leu301Leu] 932 .. 932 A/G rs113554687 - CDS Nonsynonymous[His308Arg] 958 .. 958 T/C rs202041927 - CDS Nonsynonymous[Tyr317His] 984 .. 984 G/A rs139413990 - CDS Synonymous[Val325Val] 1035 .. 1035 C/T rs146778046 - CDS Synonymous[Leu342Leu] 1038 .. 1038 C/T rs113679008 - CDS Synonymous[Asp343Asp] 1047 .. 1047 C/A rs199650747 - CDS Nonsynonymous[Asp346Glu] 1064 .. 1064 T/C rs121918110 + CDS Nonsynonymous[Leu352Pro] 1067 .. 1067 C/T rs201129306 - CDS Nonsynonymous[Pro353Leu] 1074 .. 1074 C/T rs138328594 - CDS Synonymous[Ser355Ser] 1106 .. 1106 C/T rs140066253 - CDS Nonsynonymous[Thr366Met] 1110 .. 1110 C/T rs200226479 - CDS Synonymous[Tyr367Tyr] 1140 .. 1140 G/A rs146102517 - CDS Synonymous[Glu377Glu] 1162 .. 1162 T/G rs121918108 + CDS Nonsynonymous[Cys385Gly] 1163 .. 1163 G/T rs121918105 + CDS Nonsynonymous[Cys385Phe] 1182 .. 1182 C/T rs141254386 - CDS Synonymous[Cys391Cys] 1190 .. 1190 C/T rs202125074 - CDS Nonsynonymous[Thr394Met] 1245 .. 1245 C/T rs147030327 - CDS Synonymous[Cys412Cys] 1260 .. 1260 G/T rs1803650 + CDS Nonsynonymous[Lys417Asn] 1297 .. 1297 A/G rs148676984 - CDS Nonsynonymous[Ser430Gly] 1300 .. 1300 A/G rs200379457 - CDS Nonsynonymous[Thr431Ala] 1306 .. 1306 C/T rs121918109 + CDS AA-STOP[Gln433*] 1314 .. 1314 C/T rs144042454 - CDS Synonymous[Ile435Ile] 1329 .. 1329 G/A rs149525964 - CDS Synonymous[Glu440Glu] 1356 .. 1356 T/C rs138217875 - CDS Synonymous[Pro449Pro] 1392 .. 1392 C/T rs146925179 - CDS Synonymous[Tyr461Tyr] 1398 .. 1398 C/T rs1049882 + CDS Synonymous[Pro463Pro] 1399 .. 1399 G/A rs138716613 - CDS Nonsynonymous[Val464Met] 1470 .. 1470 G/A rs114389264 - CDS Synonymous[Ser487Ser] 1479 .. 1479 G/A rs140777530 - CDS Synonymous[Lys490Lys] 1494 .. 1494 T/C rs139178900 - CDS Synonymous[Thr495Thr] 1513 .. 1513 C/T rs143773764 - CDS Nonsynonymous[Pro502Ser] 1537 .. 1537 G/C rs149000433 - CDS Nonsynonymous[Glu510Gln] 1609 .. 1609 A/T rs199602243 - 3'UTR 1679 .. 1679 T/C rs187964417 - 3'UTR 1686 .. 1686 T/C rs183945494 - 3'UTR 1707 ^ 1708 -/C rs71480591 - 3'UTR 1710 ^ 1711 -/C rs36076120 - 3'UTR 1713 .. 1713 C/G rs191704547 - 3'UTR 1715 .. 1715 C/G rs113284884 - 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;