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H-Invitational ID: HIT000191128 Accession number: J03077 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;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
10 .. 10 C/T rs201780377 - 5'UTR
28 .. 28 C/G rs28365839 + 5'UTR
29 .. 29 A/G rs76455588 - 5'UTR
35 .. 35 T/C rs2070188 + 5'UTR
39 .. 39 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
54 .. 54 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
74 .. 74 C/G rs11555014 + CDS Synonymous[Gly12Gly]
86 .. 86 C/T rs199808371 - CDS Synonymous[Ala16Ala]
98 .. 98 T/C rs188252882 - CDS Synonymous[Leu20Leu]
105 .. 105 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
109 ^ 110 -/A rs34228343 - CDS
116 .. 116 C/T rs74145688 - CDS Synonymous[Thr26Thr]
121 .. 121 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
126 .. 126 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
132 .. 132 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
151 .. 151 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
155 .. 155 G/A rs200836594 - CDS Synonymous[Ala39Ala]
158 .. 158 C/T rs141231601 - CDS Synonymous[Ser40Ser]
185 .. 185 G/A rs112119208 - CDS Synonymous[Leu49Leu]
191 .. 191 C/T rs11555016 + CDS Synonymous[Thr51Thr]
192 .. 192 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
227 .. 227 C/T rs111369573 - CDS Synonymous[Cys63Cys]
242 .. 242 C/T rs143981174 - CDS Synonymous[Asp68Asp]
252 .. 252 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
255 .. 255 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
383 .. 383 T/G rs11555017 + CDS Synonymous[Pro115Pro]
396 .. 396 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
417 .. 417 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
526 .. 526 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
578 .. 578 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
587 .. 587 C/T rs142002239 - CDS Synonymous[Asp183Asp]
594 .. 594 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
595 .. 595 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
603 .. 603 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
608 .. 608 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
615 .. 615 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
616 .. 616 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
620 .. 620 T/C rs150177878 - CDS Synonymous[Asn194Asn]
627 .. 627 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
654 .. 654 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
659 .. 659 C/T rs140702696 - CDS Synonymous[Asp207Asp]
661 .. 661 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
675 .. 675 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
681 .. 681 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
688 .. 688 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
733 .. 733 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
735 .. 735 C/T/G rs146934980 - CDS
752 .. 752 C/G rs141199649 - CDS Synonymous[Ala238Ala]
760 .. 760 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
761 .. 761 C/T rs147805036 - CDS Synonymous[Cys241Cys]
770 .. 770 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
779 .. 779 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
836 .. 836 G/A rs199672678 - CDS Synonymous[Ala266Ala]
860 .. 860 G/A rs149202005 - CDS Synonymous[Val274Val]
903 .. 903 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
932 .. 932 G/A rs150048951 - CDS Synonymous[Leu298Leu]
952 .. 952 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
978 .. 978 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
1004 .. 1004 G/A rs139413990 - CDS Synonymous[Val322Val]
1055 .. 1055 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1058 .. 1058 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1067 .. 1067 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1084 .. 1084 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1087 .. 1087 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1094 .. 1094 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1126 .. 1126 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1130 .. 1130 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1160 .. 1160 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1182 .. 1182 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1183 .. 1183 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1202 .. 1202 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1210 .. 1210 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1265 .. 1265 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1280 .. 1280 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1317 .. 1317 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1320 .. 1320 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1326 .. 1326 C/T rs121918109 + CDS AA-STOP[Gln430*]
1334 .. 1334 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1349 .. 1349 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1376 .. 1376 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1412 .. 1412 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1418 .. 1418 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1419 .. 1419 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1490 .. 1490 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1499 .. 1499 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1514 .. 1514 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1533 .. 1533 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1557 .. 1557 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
1629 .. 1629 A/T rs199602243 - 3'UTR
1699 .. 1699 T/C rs187964417 - 3'UTR
1706 .. 1706 T/C rs183945494 - 3'UTR
1727 ^ 1728 -/C rs71480591 - 3'UTR
1730 ^ 1731 -/C rs36076120 - 3'UTR
1733 .. 1733 C/G rs191704547 - 3'UTR
1735 .. 1735 C/G rs113284884 - 3'UTR
1873 .. 1873 G/C rs113209259 - 3'UTR
1885 .. 1885 C/T rs150766866 - 3'UTR
1940 .. 1940 A/T rs14595 - 3'UTR
1996 .. 1996 A/G rs141906397 - 3'UTR
2049 .. 2049 C/G rs11555018 + 3'UTR
2207 .. 2207 G/A rs11555020 + 3'UTR
2219 .. 2219 G/T rs1803651 + 3'UTR
2256 .. 2256 C/T rs138390739 - 3'UTR
2274 .. 2274 G/T rs41282246 - 3'UTR
2356 .. 2356 G/A rs147046509 - 3'UTR
2393 .. 2393 C/T rs200907537 - 3'UTR
2394 .. 2394 G/A rs79662404 - 3'UTR
2415 .. 2415 T/C rs12844 + 3'UTR
2416 .. 2416 A/G rs141553639 - 3'UTR
2466 .. 2466 C/T rs1053333 + 3'UTR
2485 .. 2485 A/C rs1056711 + 3'UTR
2510 .. 2510 G/A/C rs7869 + 3'UTR
2538 .. 2538 G/A rs1054293 + 3'UTR
2553 .. 2553 A/C rs188600883 - 3'UTR
2602 .. 2602 G/A rs1054851 + 3'UTR
2644 .. 2644 C/T rs1055754 + 3'UTR
2706 .. 2706 G/A rs41282244 - 3'UTR
2715 .. 2715 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
Mini-G

 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer