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H-Invitational ID: HIT000426587 Accession number: AK307721 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Saposin-C; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-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 18 .. 18 C/G rs28365839 + 5'UTR 19 .. 19 A/G rs76455588 - 5'UTR 25 .. 25 C/T rs2070188 + 5'UTR 29 .. 29 A/T rs121918106 + 5'UTR 44 .. 44 C/T rs148279196 - 5'UTR 64 .. 64 C/G rs11555014 + 5'UTR 76 .. 76 C/T rs199808371 - 5'UTR 88 .. 88 T/C rs188252882 - 5'UTR 95 .. 95 A/G rs143016278 - 5'UTR 99 ^ 100 -/A rs34228343 - 5'UTR 106 .. 106 C/T rs74145688 - 5'UTR 111 .. 111 G/T rs185057837 - 5'UTR 116 .. 116 G/T rs144942998 - 5'UTR 122 .. 122 T/G rs200008050 - 5'UTR 141 .. 141 C/T rs145181011 - 5'UTR 145 .. 145 G/A rs200836594 - 5'UTR 148 .. 148 C/T rs141231601 - 5'UTR 175 .. 175 G/A rs112119208 - 5'UTR 181 .. 181 C/T rs11555016 + 5'UTR 182 .. 182 G/A rs147920923 - 5'UTR 217 .. 217 C/T rs111369573 - 5'UTR 240 .. 240 T/C rs202041927 - 5'UTR 266 .. 266 G/A rs139413990 - 5'UTR 317 .. 317 C/T rs146778046 - 5'UTR 320 .. 320 C/T rs113679008 - 5'UTR 329 .. 329 C/A rs199650747 - 5'UTR 346 .. 346 T/C rs121918110 + CDS Nonsynonymous[Leu5Pro] 349 .. 349 C/T rs201129306 - CDS Nonsynonymous[Pro6Leu] 356 .. 356 C/T rs138328594 - CDS Synonymous[Ser8Ser] 388 .. 388 C/T rs140066253 - CDS Nonsynonymous[Thr19Met] 392 .. 392 C/T rs200226479 - CDS Synonymous[Tyr20Tyr] 422 .. 422 G/A rs146102517 - CDS Synonymous[Glu30Glu] 444 .. 444 T/G rs121918108 + CDS Nonsynonymous[Cys38Gly] 445 .. 445 G/T rs121918105 + CDS Nonsynonymous[Cys38Phe] 464 .. 464 C/T rs141254386 - CDS Synonymous[Cys44Cys] 472 .. 472 C/T rs202125074 - CDS Nonsynonymous[Thr47Met] 527 .. 527 C/T rs147030327 - CDS Synonymous[Cys65Cys] 542 .. 542 G/T rs1803650 + CDS Nonsynonymous[Lys70Asn] 579 .. 579 A/G rs148676984 - CDS Nonsynonymous[Ser83Gly] 582 .. 582 A/G rs200379457 - CDS Nonsynonymous[Thr84Ala] 588 .. 588 C/T rs121918109 + CDS AA-STOP[Gln86*] 596 .. 596 C/T rs144042454 - CDS Synonymous[Ile88Ile] 611 .. 611 G/A rs149525964 - CDS Synonymous[Glu93Glu] 638 .. 638 T/C rs138217875 - CDS Synonymous[Pro102Pro] 674 .. 674 C/T rs146925179 - CDS Synonymous[Tyr114Tyr] 680 .. 680 C/T rs1049882 + CDS Synonymous[Pro116Pro] 681 .. 681 G/A rs138716613 - CDS Nonsynonymous[Val117Met] 752 .. 752 G/A rs114389264 - CDS Synonymous[Ser140Ser] 761 .. 761 G/A rs140777530 - CDS Synonymous[Lys143Lys] 776 .. 776 T/C rs139178900 - CDS Synonymous[Thr148Thr] 795 .. 795 C/T rs143773764 - CDS Nonsynonymous[Pro155Ser] 819 .. 819 G/C rs149000433 - CDS Nonsynonymous[Glu163Gln] 891 .. 891 A/T rs199602243 - 3'UTR 961 .. 961 T/C rs187964417 - 3'UTR 968 .. 968 T/C rs183945494 - 3'UTR 989 ^ 990 -/C rs71480591 - 3'UTR 992 ^ 993 -/C rs36076120 - 3'UTR 995 .. 995 C/G rs191704547 - 3'UTR 997 .. 997 C/G rs113284884 - 3'UTR 1128 .. 1128 G/C rs113209259 - 3'UTR 1140 .. 1140 C/T rs150766866 - 3'UTR 1195 .. 1195 A/T rs14595 - 3'UTR 1251 .. 1251 A/G rs141906397 - 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;