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H-Invitational ID: HIT000493808 Accession number: AK299184 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
28 .. 28 A/G rs79410903 - 5'UTR
32 .. 32 T/C rs143987544 - 5'UTR
36 .. 36 C/T rs201780377 - 5'UTR
54 .. 54 C/G rs28365839 + 5'UTR
55 .. 55 A/G rs76455588 - 5'UTR
61 .. 61 C/T rs2070188 + 5'UTR
65 .. 65 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
80 .. 80 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
100 .. 100 C/G rs11555014 + CDS Synonymous[Gly12Gly]
112 .. 112 C/T rs199808371 - CDS Synonymous[Ala16Ala]
124 .. 124 T/C rs188252882 - CDS Synonymous[Leu20Leu]
131 .. 131 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
135 ^ 136 -/A rs34228343 - CDS
142 .. 142 C/T rs74145688 - CDS Synonymous[Thr26Thr]
147 .. 147 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
152 .. 152 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
158 .. 158 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
177 .. 177 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
181 .. 181 G/A rs200836594 - CDS Synonymous[Ala39Ala]
184 .. 184 C/T rs141231601 - CDS Synonymous[Ser40Ser]
211 .. 211 G/A rs112119208 - CDS Synonymous[Leu49Leu]
217 .. 217 C/T rs11555016 + CDS Synonymous[Thr51Thr]
218 .. 218 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
253 .. 253 C/T rs111369573 - CDS Synonymous[Cys63Cys]
268 .. 268 C/T rs143981174 - CDS Synonymous[Asp68Asp]
278 .. 278 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
281 .. 281 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
409 .. 409 T/G rs11555017 + CDS Synonymous[Pro115Pro]
422 .. 422 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
443 .. 443 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
552 .. 552 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
604 .. 604 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
613 .. 613 C/T rs142002239 - CDS Synonymous[Asp183Asp]
620 .. 620 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
621 .. 621 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
629 .. 629 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
634 .. 634 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
641 .. 641 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
642 .. 642 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
646 .. 646 T/C rs150177878 - CDS Synonymous[Asn194Asn]
653 .. 653 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
680 .. 680 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
685 .. 685 C/T rs140702696 - CDS Synonymous[Asp207Asp]
687 .. 687 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
701 .. 701 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
707 .. 707 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
714 .. 714 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
759 .. 759 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
761 .. 761 C/T/G rs146934980 - CDS
778 .. 778 C/G rs141199649 - CDS Synonymous[Ala238Ala]
786 .. 786 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
787 .. 787 C/T rs147805036 - CDS Synonymous[Cys241Cys]
796 .. 796 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
805 .. 805 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
844 .. 844 G/C rs112041816 - CDS Nonsynonymous[Gln260His]
847 .. 847 T/A rs113827790 - CDS Nonsynonymous[Asp261Glu]
871 .. 871 G/A rs199672678 - CDS Synonymous[Ala269Ala]
895 .. 895 G/A rs149202005 - CDS Synonymous[Val277Val]
938 .. 938 T/C rs145404688 - CDS Nonsynonymous[Ser292Pro]
967 .. 967 G/A rs150048951 - CDS Synonymous[Leu301Leu]
987 .. 987 A/G rs113554687 - CDS Nonsynonymous[His308Arg]
1013 .. 1013 T/C rs202041927 - CDS Nonsynonymous[Tyr317His]
1039 .. 1039 G/A rs139413990 - CDS Synonymous[Val325Val]
1090 .. 1090 C/T rs146778046 - CDS Synonymous[Leu342Leu]
1093 .. 1093 C/T rs113679008 - CDS Synonymous[Asp343Asp]
1102 .. 1102 C/A rs199650747 - CDS Nonsynonymous[Asp346Glu]
1119 .. 1119 T/C rs121918110 + CDS Nonsynonymous[Leu352Pro]
1122 .. 1122 C/T rs201129306 - CDS Nonsynonymous[Pro353Leu]
1129 .. 1129 C/T rs138328594 - CDS Synonymous[Ser355Ser]
1161 .. 1161 C/T rs140066253 - CDS Nonsynonymous[Thr366Met]
1165 .. 1165 C/T rs200226479 - CDS Synonymous[Tyr367Tyr]
1195 .. 1195 G/A rs146102517 - CDS Synonymous[Glu377Glu]
1217 .. 1217 T/G rs121918108 + CDS Nonsynonymous[Cys385Gly]
1218 .. 1218 G/T rs121918105 + CDS Nonsynonymous[Cys385Phe]
1237 .. 1237 C/T rs141254386 - CDS Synonymous[Cys391Cys]
1245 .. 1245 C/T rs202125074 - CDS Nonsynonymous[Thr394Met]
1300 .. 1300 C/T rs147030327 - CDS Synonymous[Cys412Cys]
1315 .. 1315 G/T rs1803650 + CDS Nonsynonymous[Lys417Asn]
1352 .. 1352 A/G rs148676984 - CDS Nonsynonymous[Ser430Gly]
1355 .. 1355 A/G rs200379457 - CDS Nonsynonymous[Thr431Ala]
1361 .. 1361 C/T rs121918109 + CDS AA-STOP[Gln433*]
1369 .. 1369 C/T rs144042454 - CDS Synonymous[Ile435Ile]
1384 .. 1384 G/A rs149525964 - CDS Synonymous[Glu440Glu]
1411 .. 1411 T/C rs138217875 - CDS Synonymous[Pro449Pro]
1447 .. 1447 C/T rs146925179 - CDS Synonymous[Tyr461Tyr]
1453 .. 1453 C/T rs1049882 + CDS Synonymous[Pro463Pro]
1454 .. 1454 G/A rs138716613 - CDS Nonsynonymous[Val464Met]
1525 .. 1525 G/A rs114389264 - CDS Synonymous[Ser487Ser]
1534 .. 1534 G/A rs140777530 - CDS Synonymous[Lys490Lys]
1549 .. 1549 T/C rs139178900 - CDS Synonymous[Thr495Thr]
1568 .. 1568 C/T rs143773764 - CDS Nonsynonymous[Pro502Ser]
1592 .. 1592 G/C rs149000433 - CDS Nonsynonymous[Glu510Gln]
1664 .. 1664 A/T rs199602243 - 3'UTR
1734 .. 1734 T/C rs187964417 - 3'UTR
1741 .. 1741 T/C rs183945494 - 3'UTR
1762 ^ 1763 -/C rs71480591 - 3'UTR
1765 ^ 1766 -/C rs36076120 - 3'UTR
1768 .. 1768 C/G rs191704547 - 3'UTR
1770 .. 1770 C/G rs113284884 - 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