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: HIT000100400 Accession number: D00422 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 5 .. 5 C/T rs2070188 + 5'UTR 9 .. 9 A/T rs121918106 + CDS Nonsynonymous[Met1Leu] 24 .. 24 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe] 44 .. 44 C/G rs11555014 + CDS Synonymous[Gly12Gly] 56 .. 56 C/T rs199808371 - CDS Synonymous[Ala16Ala] 68 .. 68 T/C rs188252882 - CDS Synonymous[Leu20Leu] 75 .. 75 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu] 79 ^ 80 -/A rs34228343 - CDS 86 .. 86 C/T rs74145688 - CDS Synonymous[Thr26Thr] 91 .. 91 G/T rs185057837 - CDS Nonsynonymous[Gly28Val] 96 .. 96 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser] 102 .. 102 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly] 121 .. 121 C/T rs145181011 - CDS Nonsynonymous[Thr38Met] 125 .. 125 G/A rs200836594 - CDS Synonymous[Ala39Ala] 128 .. 128 C/T rs141231601 - CDS Synonymous[Ser40Ser] 155 .. 155 G/A rs112119208 - CDS Synonymous[Leu49Leu] 161 .. 161 C/T rs11555016 + CDS Synonymous[Thr51Thr] 162 .. 162 G/A rs147920923 - CDS Nonsynonymous[Val52Ile] 197 .. 197 C/T rs111369573 - CDS Synonymous[Cys63Cys] 212 .. 212 C/T rs143981174 - CDS Synonymous[Asp68Asp] 222 .. 222 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr] 225 .. 225 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr] 353 .. 353 T/G rs11555017 + CDS Synonymous[Pro115Pro] 366 .. 366 A/G rs142784765 - CDS Nonsynonymous[Ile120Val] 387 .. 387 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys] 496 .. 496 A/T rs146301708 - CDS Nonsynonymous[Asp163Val] 548 .. 548 C/T rs11555021 + CDS Synonymous[Tyr180Tyr] 557 .. 557 C/T rs142002239 - CDS Synonymous[Asp183Asp] 564 .. 564 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys] 565 .. 565 G/A rs138880818 - CDS Nonsynonymous[Arg186His] 573 .. 573 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser] 578 .. 578 G/T rs142272618 - CDS Nonsynonymous[Gln190His] 585 .. 585 G/C rs149305591 - CDS Nonsynonymous[Asp193His] 586 .. 586 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly] 590 .. 590 T/C rs150177878 - CDS Synonymous[Asn194Asn] 597 .. 597 G/A rs191952316 - CDS Nonsynonymous[Val197Ile] 624 .. 624 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala] 629 .. 629 C/T rs140702696 - CDS Synonymous[Asp207Asp] 631 .. 631 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser] 645 .. 645 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp] 651 .. 651 A/C rs121918107 + CDS Nonsynonymous[Asn215His] 658 .. 658 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile] 703 .. 703 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu] 705 .. 705 C/T/G rs146934980 - CDS 722 .. 722 C/G rs141199649 - CDS Synonymous[Ala238Ala] 730 .. 730 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser] 731 .. 731 C/T rs147805036 - CDS Synonymous[Cys241Cys] 740 .. 740 T/C rs146732171 - CDS Synonymous[Tyr244Tyr] 749 .. 749 G/T rs202069470 - CDS Nonsynonymous[Gln247His] 788 .. 788 G/C rs112041816 - CDS Nonsynonymous[Gln260His] 791 .. 791 T/A rs113827790 - CDS Nonsynonymous[Asp261Glu] 815 .. 815 G/A rs199672678 - CDS Synonymous[Ala269Ala] 839 .. 839 G/A rs149202005 - CDS Synonymous[Val277Val] 882 .. 882 T/C rs145404688 - CDS Nonsynonymous[Ser292Pro] 911 .. 911 G/A rs150048951 - CDS Synonymous[Leu301Leu] 931 .. 931 A/G rs113554687 - CDS Nonsynonymous[His308Arg] 957 .. 957 T/C rs202041927 - CDS Nonsynonymous[Tyr317His] 983 .. 983 G/A rs139413990 - CDS Synonymous[Val325Val] 1034 .. 1034 C/T rs146778046 - CDS Synonymous[Leu342Leu] 1037 .. 1037 C/T rs113679008 - CDS Synonymous[Asp343Asp] 1046 .. 1046 C/A rs199650747 - CDS Nonsynonymous[Asp346Glu] 1063 .. 1063 T/C rs121918110 + CDS Nonsynonymous[Leu352Pro] 1066 .. 1066 C/T rs201129306 - CDS Nonsynonymous[Pro353Leu] 1073 .. 1073 C/T rs138328594 - CDS Synonymous[Ser355Ser] 1105 .. 1105 C/T rs140066253 - CDS Nonsynonymous[Thr366Met] 1109 .. 1109 C/T rs200226479 - CDS Synonymous[Tyr367Tyr] 1139 .. 1139 G/A rs146102517 - CDS Synonymous[Glu377Glu] 1161 .. 1161 T/G rs121918108 + CDS Nonsynonymous[Cys385Gly] 1162 .. 1162 G/T rs121918105 + CDS Nonsynonymous[Cys385Phe] 1181 .. 1181 C/T rs141254386 - CDS Synonymous[Cys391Cys] 1189 .. 1189 C/T rs202125074 - CDS Nonsynonymous[Thr394Met] 1244 .. 1244 C/T rs147030327 - CDS Synonymous[Cys412Cys] 1259 .. 1259 G/T rs1803650 + CDS Nonsynonymous[Lys417Asn] 1296 .. 1296 A/G rs148676984 - CDS Nonsynonymous[Ser430Gly] 1299 .. 1299 A/G rs200379457 - CDS Nonsynonymous[Thr431Ala] 1305 .. 1305 C/T rs121918109 + CDS AA-STOP[Gln433*] 1313 .. 1313 C/T rs144042454 - CDS Synonymous[Ile435Ile] 1328 .. 1328 G/A rs149525964 - CDS Synonymous[Glu440Glu] 1355 .. 1355 T/C rs138217875 - CDS Synonymous[Pro449Pro] 1391 .. 1391 C/T rs146925179 - CDS Synonymous[Tyr461Tyr] 1397 .. 1397 C/T rs1049882 + CDS Synonymous[Pro463Pro] 1398 .. 1398 G/A rs138716613 - CDS Nonsynonymous[Val464Met] 1469 .. 1469 G/A rs114389264 - CDS Synonymous[Ser487Ser] 1478 .. 1478 G/A rs140777530 - CDS Synonymous[Lys490Lys] 1493 .. 1493 T/C rs139178900 - CDS Synonymous[Thr495Thr] 1512 .. 1512 C/T rs143773764 - CDS Nonsynonymous[Pro502Ser] 1536 .. 1536 G/C rs149000433 - CDS Nonsynonymous[Glu510Gln] 1608 .. 1608 A/T rs199602243 - 3'UTR 1678 .. 1678 T/C rs187964417 - 3'UTR 1685 .. 1685 T/C rs183945494 - 3'UTR 1706 ^ 1707 -/C rs71480591 - 3'UTR 1709 ^ 1710 -/C rs36076120 - 3'UTR 1712 .. 1712 C/G rs191704547 - 3'UTR 1714 .. 1714 C/G rs113284884 - 3'UTR 1845 .. 1845 G/C rs113209259 - 3'UTR 1857 .. 1857 C/T rs150766866 - 3'UTR 1912 .. 1912 A/T rs14595 - 3'UTR 1968 .. 1968 A/G rs141906397 - 3'UTR 2021 .. 2021 C/G rs11555018 + 3'UTR 2179 .. 2179 G/A rs11555020 + 3'UTR 2191 .. 2191 G/T rs1803651 + 3'UTR 2228 .. 2228 C/T rs138390739 - 3'UTR 2246 .. 2246 G/T rs41282246 - 3'UTR 2329 .. 2329 G/A rs147046509 - 3'UTR 2366 .. 2366 C/T rs200907537 - 3'UTR 2367 .. 2367 G/A rs79662404 - 3'UTR 2388 .. 2388 T/C rs12844 + 3'UTR 2389 .. 2389 A/G rs141553639 - 3'UTR 2439 .. 2439 C/T rs1053333 + 3'UTR 2458 .. 2458 A/C rs1056711 + 3'UTR 2483 .. 2483 G/A/C rs7869 + 3'UTR 2511 .. 2511 G/A rs1054293 + 3'UTR 2526 .. 2526 A/C rs188600883 - 3'UTR 2573 .. 2573 G/A rs1054851 + 3'UTR 2615 .. 2615 C/T rs1055754 + 3'UTR 2677 .. 2677 G/A rs41282244 - 3'UTR 2686 .. 2686 G/T rs10390 + 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;