H-InvDB_9.0 released on May 27, 2015.
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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;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
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
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
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene;
Repeat Mask Viewer
;