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H-Invitational ID: HIT000267596 Accession number: CR456746 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 1 .. 1 A/T rs121918106 + CDS Nonsynonymous[Met1Leu] 16 .. 16 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe] 36 .. 36 C/G rs11555014 + CDS Synonymous[Gly12Gly] 48 .. 48 C/T rs199808371 - CDS Synonymous[Ala16Ala] 60 .. 60 T/C rs188252882 - CDS Synonymous[Leu20Leu] 67 .. 67 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu] 71 ^ 72 -/A rs34228343 - CDS 78 .. 78 C/T rs74145688 - CDS Synonymous[Thr26Thr] 83 .. 83 G/T rs185057837 - CDS Nonsynonymous[Gly28Val] 88 .. 88 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser] 94 .. 94 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly] 113 .. 113 C/T rs145181011 - CDS Nonsynonymous[Thr38Met] 117 .. 117 G/A rs200836594 - CDS Synonymous[Ala39Ala] 120 .. 120 C/T rs141231601 - CDS Synonymous[Ser40Ser] 147 .. 147 G/A rs112119208 - CDS Synonymous[Leu49Leu] 153 .. 153 C/T rs11555016 + CDS Synonymous[Thr51Thr] 154 .. 154 G/A rs147920923 - CDS Nonsynonymous[Val52Ile] 189 .. 189 C/T rs111369573 - CDS Synonymous[Cys63Cys] 204 .. 204 C/T rs143981174 - CDS Synonymous[Asp68Asp] 214 .. 214 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr] 217 .. 217 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr] 345 .. 345 T/G rs11555017 + CDS Synonymous[Pro115Pro] 358 .. 358 A/G rs142784765 - CDS Nonsynonymous[Ile120Val] 379 .. 379 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys] 488 .. 488 A/T rs146301708 - CDS Nonsynonymous[Asp163Val] 540 .. 540 C/T rs11555021 + CDS Synonymous[Tyr180Tyr] 549 .. 549 C/T rs142002239 - CDS Synonymous[Asp183Asp] 556 .. 556 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys] 557 .. 557 G/A rs138880818 - CDS Nonsynonymous[Arg186His] 565 .. 565 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser] 570 .. 570 G/T rs142272618 - CDS Nonsynonymous[Gln190His] 577 .. 577 G/C rs149305591 - CDS Nonsynonymous[Asp193His] 578 .. 578 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly] 582 .. 582 T/C rs150177878 - CDS Synonymous[Asn194Asn] 589 .. 589 G/A rs191952316 - CDS Nonsynonymous[Val197Ile] 616 .. 616 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala] 621 .. 621 C/T rs140702696 - CDS Synonymous[Asp207Asp] 623 .. 623 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser] 637 .. 637 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp] 643 .. 643 A/C rs121918107 + CDS Nonsynonymous[Asn215His] 650 .. 650 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile] 695 .. 695 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu] 697 .. 697 C/T/G rs146934980 - CDS 714 .. 714 C/G rs141199649 - CDS Synonymous[Ala238Ala] 722 .. 722 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser] 723 .. 723 C/T rs147805036 - CDS Synonymous[Cys241Cys] 732 .. 732 T/C rs146732171 - CDS Synonymous[Tyr244Tyr] 741 .. 741 G/T rs202069470 - CDS Nonsynonymous[Gln247His] 798 .. 798 G/A rs199672678 - CDS Synonymous[Ala266Ala] 822 .. 822 G/A rs149202005 - CDS Synonymous[Val274Val] 865 .. 865 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro] 894 .. 894 G/A rs150048951 - CDS Synonymous[Leu298Leu] 914 .. 914 A/G rs113554687 - CDS Nonsynonymous[His305Arg] 940 .. 940 T/C rs202041927 - CDS Nonsynonymous[Tyr314His] 966 .. 966 G/A rs139413990 - CDS Synonymous[Val322Val] 1017 .. 1017 C/T rs146778046 - CDS Synonymous[Leu339Leu] 1020 .. 1020 C/T rs113679008 - CDS Synonymous[Asp340Asp] 1029 .. 1029 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu] 1046 .. 1046 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro] 1049 .. 1049 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu] 1056 .. 1056 C/T rs138328594 - CDS Synonymous[Ser352Ser] 1088 .. 1088 C/T rs140066253 - CDS Nonsynonymous[Thr363Met] 1092 .. 1092 C/T rs200226479 - CDS Synonymous[Tyr364Tyr] 1122 .. 1122 G/A rs146102517 - CDS Synonymous[Glu374Glu] 1144 .. 1144 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly] 1145 .. 1145 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe] 1164 .. 1164 C/T rs141254386 - CDS Synonymous[Cys388Cys] 1172 .. 1172 C/T rs202125074 - CDS Nonsynonymous[Thr391Met] 1227 .. 1227 C/T rs147030327 - CDS Synonymous[Cys409Cys] 1242 .. 1242 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn] 1279 .. 1279 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly] 1282 .. 1282 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala] 1288 .. 1288 C/T rs121918109 + CDS AA-STOP[Gln430*] 1296 .. 1296 C/T rs144042454 - CDS Synonymous[Ile432Ile] 1311 .. 1311 G/A rs149525964 - CDS Synonymous[Glu437Glu] 1338 .. 1338 T/C rs138217875 - CDS Synonymous[Pro446Pro] 1374 .. 1374 C/T rs146925179 - CDS Synonymous[Tyr458Tyr] 1380 .. 1380 C/T rs1049882 + CDS Synonymous[Pro460Pro] 1381 .. 1381 G/A rs138716613 - CDS Nonsynonymous[Val461Met] 1452 .. 1452 G/A rs114389264 - CDS Synonymous[Ser484Ser] 1461 .. 1461 G/A rs140777530 - CDS Synonymous[Lys487Lys] 1476 .. 1476 T/C rs139178900 - CDS Synonymous[Thr492Thr] 1495 .. 1495 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser] 1519 .. 1519 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]  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;