H-InvDB_9.0 released on May 27, 2015.
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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;
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
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
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene;
Repeat Mask Viewer
;