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H-Invitational ID: HIT000033332 Accession number: BC007612 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
8 .. 8 C/G rs28365839 + 5'UTR
9 .. 9 A/G rs76455588 - 5'UTR
15 .. 15 T/C rs2070188 + 5'UTR
19 .. 19 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
34 .. 34 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
54 .. 54 C/G rs11555014 + CDS Synonymous[Gly12Gly]
66 .. 66 C/T rs199808371 - CDS Synonymous[Ala16Ala]
78 .. 78 T/C rs188252882 - CDS Synonymous[Leu20Leu]
85 .. 85 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
89 ^ 90 -/A rs34228343 - CDS
96 .. 96 C/T rs74145688 - CDS Synonymous[Thr26Thr]
101 .. 101 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
106 .. 106 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
112 .. 112 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
131 .. 131 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
135 .. 135 G/A rs200836594 - CDS Synonymous[Ala39Ala]
138 .. 138 C/T rs141231601 - CDS Synonymous[Ser40Ser]
165 .. 165 G/A rs112119208 - CDS Synonymous[Leu49Leu]
171 .. 171 C/T rs11555016 + CDS Synonymous[Thr51Thr]
172 .. 172 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
207 .. 207 C/T rs111369573 - CDS Synonymous[Cys63Cys]
222 .. 222 C/T rs143981174 - CDS Synonymous[Asp68Asp]
232 .. 232 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
235 .. 235 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
363 .. 363 T/G rs11555017 + CDS Synonymous[Pro115Pro]
376 .. 376 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
397 .. 397 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
506 .. 506 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
558 .. 558 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
567 .. 567 C/T rs142002239 - CDS Synonymous[Asp183Asp]
574 .. 574 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
575 .. 575 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
583 .. 583 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
588 .. 588 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
595 .. 595 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
596 .. 596 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
600 .. 600 T/C rs150177878 - CDS Synonymous[Asn194Asn]
607 .. 607 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
634 .. 634 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
639 .. 639 C/T rs140702696 - CDS Synonymous[Asp207Asp]
641 .. 641 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
655 .. 655 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
661 .. 661 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
668 .. 668 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
713 .. 713 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
715 .. 715 C/T/G rs146934980 - CDS
732 .. 732 C/G rs141199649 - CDS Synonymous[Ala238Ala]
740 .. 740 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
741 .. 741 C/T rs147805036 - CDS Synonymous[Cys241Cys]
750 .. 750 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
759 .. 759 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
816 .. 816 G/A rs199672678 - CDS Synonymous[Ala266Ala]
840 .. 840 G/A rs149202005 - CDS Synonymous[Val274Val]
883 .. 883 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
912 .. 912 G/A rs150048951 - CDS Synonymous[Leu298Leu]
932 .. 932 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
958 .. 958 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
984 .. 984 G/A rs139413990 - CDS Synonymous[Val322Val]
1035 .. 1035 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1038 .. 1038 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1047 .. 1047 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1064 .. 1064 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1067 .. 1067 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1074 .. 1074 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1106 .. 1106 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1110 .. 1110 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1140 .. 1140 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1162 .. 1162 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1163 .. 1163 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1182 .. 1182 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1190 .. 1190 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1245 .. 1245 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1260 .. 1260 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1297 .. 1297 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1300 .. 1300 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1306 .. 1306 C/T rs121918109 + CDS AA-STOP[Gln430*]
1314 .. 1314 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1329 .. 1329 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1356 .. 1356 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1392 .. 1392 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1398 .. 1398 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1399 .. 1399 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1470 .. 1470 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1479 .. 1479 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1494 .. 1494 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1513 .. 1513 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1537 .. 1537 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
1609 .. 1609 A/T rs199602243 - 3'UTR
1679 .. 1679 T/C rs187964417 - 3'UTR
1686 .. 1686 T/C rs183945494 - 3'UTR
1707 ^ 1708 -/C rs71480591 - 3'UTR
1710 ^ 1711 -/C rs36076120 - 3'UTR
1713 .. 1713 C/G rs191704547 - 3'UTR
1715 .. 1715 C/G rs113284884 - 3'UTR
1846 .. 1846 G/C rs113209259 - 3'UTR
1858 .. 1858 C/T rs150766866 - 3'UTR
1913 .. 1913 A/T rs14595 - 3'UTR
1969 .. 1969 A/G rs141906397 - 3'UTR
2022 .. 2022 C/G rs11555018 + 3'UTR
2180 .. 2180 G/A rs11555020 + 3'UTR
2192 .. 2192 G/T rs1803651 + 3'UTR
2229 .. 2229 C/T rs138390739 - 3'UTR
2247 .. 2247 G/T rs41282246 - 3'UTR
2330 .. 2330 G/A rs147046509 - 3'UTR
2367 .. 2367 C/T rs200907537 - 3'UTR
2368 .. 2368 G/A rs79662404 - 3'UTR
2389 .. 2389 T/C rs12844 + 3'UTR
2390 .. 2390 A/G rs141553639 - 3'UTR
2440 .. 2440 C/T rs1053333 + 3'UTR
2459 .. 2459 A/C rs1056711 + 3'UTR
2484 .. 2484 A/C/G rs7869 + 3'UTR
2512 .. 2512 G/A rs1054293 + 3'UTR
2527 .. 2527 A/C rs188600883 - 3'UTR
2574 .. 2574 G/A rs1054851 + 3'UTR
2616 .. 2616 C/T rs1055754 + 3'UTR
2678 .. 2678 G/A rs41282244 - 3'UTR
2687 .. 2687 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