H-InvDB x AHG DB
Transcript view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help
H-Invitational ID: HIT000030459 Accession number: BC001503 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
2 .. 2 C/T rs2070188 + 5'UTR
6 .. 6 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
21 .. 21 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
41 .. 41 C/G rs11555014 + CDS Synonymous[Gly12Gly]
53 .. 53 C/T rs199808371 - CDS Synonymous[Ala16Ala]
65 .. 65 T/C rs188252882 - CDS Synonymous[Leu20Leu]
72 .. 72 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
76 ^ 77 -/A rs34228343 - CDS
83 .. 83 C/T rs74145688 - CDS Synonymous[Thr26Thr]
88 .. 88 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
93 .. 93 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
99 .. 99 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
118 .. 118 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
122 .. 122 G/A rs200836594 - CDS Synonymous[Ala39Ala]
125 .. 125 C/T rs141231601 - CDS Synonymous[Ser40Ser]
152 .. 152 G/A rs112119208 - CDS Synonymous[Leu49Leu]
158 .. 158 C/T rs11555016 + CDS Synonymous[Thr51Thr]
159 .. 159 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
194 .. 194 C/T rs111369573 - CDS Synonymous[Cys63Cys]
209 .. 209 C/T rs143981174 - CDS Synonymous[Asp68Asp]
219 .. 219 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
222 .. 222 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
350 .. 350 T/G rs11555017 + CDS Synonymous[Pro115Pro]
363 .. 363 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
384 .. 384 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
493 .. 493 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
545 .. 545 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
554 .. 554 C/T rs142002239 - CDS Synonymous[Asp183Asp]
561 .. 561 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
562 .. 562 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
570 .. 570 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
575 .. 575 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
582 .. 582 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
583 .. 583 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
587 .. 587 T/C rs150177878 - CDS Synonymous[Asn194Asn]
594 .. 594 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
621 .. 621 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
626 .. 626 C/T rs140702696 - CDS Synonymous[Asp207Asp]
628 .. 628 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
642 .. 642 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
648 .. 648 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
655 .. 655 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
700 .. 700 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
702 .. 702 C/T/G rs146934980 - CDS
719 .. 719 C/G rs141199649 - CDS Synonymous[Ala238Ala]
727 .. 727 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
728 .. 728 C/T rs147805036 - CDS Synonymous[Cys241Cys]
737 .. 737 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
746 .. 746 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
803 .. 803 G/A rs199672678 - CDS Synonymous[Ala266Ala]
827 .. 827 G/A rs149202005 - CDS Synonymous[Val274Val]
870 .. 870 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
899 .. 899 G/A rs150048951 - CDS Synonymous[Leu298Leu]
919 .. 919 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
945 .. 945 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
971 .. 971 G/A rs139413990 - CDS Synonymous[Val322Val]
1022 .. 1022 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1025 .. 1025 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1034 .. 1034 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1051 .. 1051 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1054 .. 1054 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1061 .. 1061 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1093 .. 1093 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1097 .. 1097 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1127 .. 1127 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1149 .. 1149 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1150 .. 1150 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1169 .. 1169 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1177 .. 1177 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1232 .. 1232 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1247 .. 1247 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1284 .. 1284 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1287 .. 1287 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1293 .. 1293 C/T rs121918109 + CDS AA-STOP[Gln430*]
1301 .. 1301 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1316 .. 1316 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1343 .. 1343 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1379 .. 1379 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1385 .. 1385 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1386 .. 1386 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1457 .. 1457 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1466 .. 1466 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1481 .. 1481 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1500 .. 1500 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1524 .. 1524 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
1596 .. 1596 A/T rs199602243 - 3'UTR
1666 .. 1666 T/C rs187964417 - 3'UTR
1673 .. 1673 T/C rs183945494 - 3'UTR
1694 ^ 1695 -/C rs71480591 - 3'UTR
1697 ^ 1698 -/C rs36076120 - 3'UTR
1700 .. 1700 C/G rs191704547 - 3'UTR
1702 .. 1702 C/G rs113284884 - 3'UTR
1833 .. 1833 G/C rs113209259 - 3'UTR
1845 .. 1845 C/T rs150766866 - 3'UTR
1900 .. 1900 A/T rs14595 - 3'UTR
1956 .. 1956 A/G rs141906397 - 3'UTR
2009 .. 2009 C/G rs11555018 + 3'UTR
2167 .. 2167 G/A rs11555020 + 3'UTR
2179 .. 2179 G/T rs1803651 + 3'UTR
2216 .. 2216 C/T rs138390739 - 3'UTR
2234 .. 2234 G/T rs41282246 - 3'UTR
2317 .. 2317 G/A rs147046509 - 3'UTR
2354 .. 2354 C/T rs200907537 - 3'UTR
2355 .. 2355 G/A rs79662404 - 3'UTR
2376 .. 2376 T/C rs12844 + 3'UTR
2377 .. 2377 A/G rs141553639 - 3'UTR
2427 .. 2427 C/T rs1053333 + 3'UTR
2446 .. 2446 A/C rs1056711 + 3'UTR
2471 .. 2471 G/A/C rs7869 + 3'UTR
2499 .. 2499 G/A rs1054293 + 3'UTR
2514 .. 2514 A/C rs188600883 - 3'UTR
2561 .. 2561 G/A rs1054851 + 3'UTR
2603 .. 2603 C/T rs1055754 + 3'UTR
2665 .. 2665 G/A rs41282244 - 3'UTR
2674 .. 2674 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