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: HIT000334333 Accession number: BC091483 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to 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 16 .. 16 A/G rs79410903 - 5'UTR 20 .. 20 T/C rs143987544 - 5'UTR 24 .. 24 C/T rs201780377 - 5'UTR 42 .. 42 C/G rs28365839 + 5'UTR 43 .. 43 A/G rs76455588 - 5'UTR 49 .. 49 C/T rs2070188 + 5'UTR 53 .. 53 A/T rs121918106 + CDS Nonsynonymous[Met1Leu] 68 .. 68 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe] 88 .. 88 C/G rs11555014 + CDS Synonymous[Gly12Gly] 100 .. 100 C/T rs199808371 - CDS Synonymous[Ala16Ala] 112 .. 112 T/C rs188252882 - CDS Synonymous[Leu20Leu] 119 .. 119 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu] 123 ^ 124 -/A rs34228343 - CDS 130 .. 130 C/T rs74145688 - CDS Synonymous[Thr26Thr] 135 .. 135 G/T rs185057837 - CDS Nonsynonymous[Gly28Val] 140 .. 140 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser] 146 .. 146 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly] 165 .. 165 C/T rs145181011 - CDS Nonsynonymous[Thr38Met] 169 .. 169 G/A rs200836594 - CDS Synonymous[Ala39Ala] 172 .. 172 C/T rs141231601 - CDS Synonymous[Ser40Ser] 199 .. 199 G/A rs112119208 - CDS Synonymous[Leu49Leu] 205 .. 205 C/T rs11555016 + CDS Synonymous[Thr51Thr] 206 .. 206 G/A rs147920923 - CDS Nonsynonymous[Val52Ile] 241 .. 241 C/T rs111369573 - CDS Synonymous[Cys63Cys] 256 .. 256 C/T rs143981174 - CDS Synonymous[Asp68Asp] 266 .. 266 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr] 269 .. 269 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr] 344 .. 344 T/G rs121918108 + CDS Nonsynonymous[Cys98Gly] 345 .. 345 G/T rs121918105 + CDS Nonsynonymous[Cys98Phe] 364 .. 364 C/T rs141254386 - CDS Synonymous[Cys104Cys] 372 .. 372 C/T rs202125074 - CDS Nonsynonymous[Thr107Met] 427 .. 427 C/T rs147030327 - CDS Synonymous[Cys125Cys] 442 .. 442 G/T rs1803650 + CDS Nonsynonymous[Lys130Asn] 479 .. 479 A/G rs148676984 - CDS Nonsynonymous[Ser143Gly] 482 .. 482 A/G rs200379457 - CDS Nonsynonymous[Thr144Ala] 488 .. 488 C/T rs121918109 + CDS AA-STOP[Gln146*] 496 .. 496 C/T rs144042454 - CDS Synonymous[Ile148Ile] 511 .. 511 G/A rs149525964 - CDS Synonymous[Glu153Glu] 538 .. 538 T/C rs138217875 - CDS Synonymous[Pro162Pro] 574 .. 574 C/T rs146925179 - CDS Synonymous[Tyr174Tyr] 580 .. 580 C/T rs1049882 + CDS Synonymous[Pro176Pro] 581 .. 581 G/A rs138716613 - CDS Nonsynonymous[Val177Met] 652 .. 652 G/A rs114389264 - CDS Synonymous[Ser200Ser] 661 .. 661 G/A rs140777530 - CDS Synonymous[Lys203Lys] 676 .. 676 T/C rs139178900 - CDS Synonymous[Thr208Thr] 695 .. 695 C/T rs143773764 - CDS Nonsynonymous[Pro215Ser] 719 .. 719 G/C rs149000433 - CDS Nonsynonymous[Glu223Gln] 791 .. 791 A/T rs199602243 - 3'UTR 861 .. 861 T/C rs187964417 - 3'UTR 868 .. 868 T/C rs183945494 - 3'UTR 889 ^ 890 -/C rs71480591 - 3'UTR 892 ^ 893 -/C rs36076120 - 3'UTR 895 .. 895 C/G rs191704547 - 3'UTR 897 .. 897 C/G rs113284884 - 3'UTR 1028 .. 1028 G/C rs113209259 - 3'UTR 1040 .. 1040 C/T rs150766866 - 3'UTR 1095 .. 1095 A/T rs14595 - 3'UTR 1151 .. 1151 A/G rs141906397 - 3'UTR 1204 .. 1204 C/G rs11555018 + 3'UTR 1362 .. 1362 G/A rs11555020 + 3'UTR 1374 .. 1374 G/T rs1803651 + 3'UTR 1411 .. 1411 C/T rs138390739 - 3'UTR 1429 .. 1429 G/T rs41282246 - 3'UTR 1512 .. 1512 G/A rs147046509 - 3'UTR 1549 .. 1549 C/T rs200907537 - 3'UTR 1550 .. 1550 G/A rs79662404 - 3'UTR 1571 .. 1571 T/C rs12844 + 3'UTR 1572 .. 1572 A/G rs141553639 - 3'UTR 1622 .. 1622 C/T rs1053333 + 3'UTR 1641 .. 1641 A/C rs1056711 + 3'UTR 1666 .. 1666 G/A/C rs7869 + 3'UTR 1694 .. 1694 G/A rs1054293 + 3'UTR 1709 .. 1709 A/C rs188600883 - 3'UTR 1756 .. 1756 G/A rs1054851 + 3'UTR 1798 .. 1798 C/T rs1055754 + 3'UTR 1860 .. 1860 G/A rs41282244 - 3'UTR 1869 .. 1869 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;