H-InvDB_8.3 released on March 26, 2013.
Search by
Keyword
H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
Accession number
Chromosome number
Chromosome band
Definition*
Data source ID
---
CCDS ID
dbSNP ID (rs number)
EC number
Ensembl ID
EntrezGene ID
FR ID
FR Accession number
GO ID
GO name*
HGNC gene symbol
HGNC gene name*
InterPro ID
InterPro name*
OMIM ID
OMIM title*
Pathway ID
Pathway name*
RefSeq (gene) ID
RefSeq (protein) ID
SCOP ID
UniProt
for
Advanced Search
Home
Quick guide
Navi
BLAST
Site map
Download
Contact us
Help
Locus view
Protein view
G-integra
DiseaseInfo Viewer
H-ANGEL
Evola
PPI view
Gene Family/Group
Hyperlink MS
H-Invitational ID:
HIT000269424
Accession number:
CR590229
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
HLA class I histocompatibility antigen, A-1 alpha chain 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
20 .. 20
C/G
rs80200845
+
5'UTR
21 .. 21
C/G
rs41540515
+
5'UTR
22 .. 22
A/-
rs41544414
+
5'UTR
23 .. 23
G/-
rs41554517
+
5'UTR
24 .. 24
A/-
rs41543712
+
5'UTR
25 .. 25
C/-
rs41555116
+
5'UTR
26 .. 26
G/C
rs114945359
+
5'UTR
26 .. 26
G/-/C
rs41554916
+
5'UTR
27 .. 27
C/-
rs41560424
+
5'UTR
28 .. 28
C/-
rs41541316
+
5'UTR
29 .. 29
G/-
rs41553515
+
5'UTR
30 .. 30
A/-
rs41543016
+
5'UTR
31 .. 31
G/-
rs41557620
+
5'UTR
32 .. 32
G/A
rs112877416
+
5'UTR
32 .. 32
G/-
rs41542718
+
5'UTR
38 .. 38
C/G
rs116720806
+
CDS
Synonymous[Ala2Ala]
38 .. 38
C/G
rs113772324
+
CDS
Synonymous[Ala2Ala]
39 .. 39
G/A
rs41541013
+
CDS
Nonsynonymous[Val3Ile]
42 .. 42
A/G
rs116404386
+
CDS
Nonsynonymous[Met4Val]
42 .. 42
A/G
rs113468777
+
CDS
Nonsynonymous[Met4Val]
42 .. 42
A/G
rs79326316
+
CDS
Nonsynonymous[Met4Val]
45 .. 45
G/C
rs41541913
+
CDS
Nonsynonymous[Ala5Pro]
47 .. 47
G/T
rs41548614
+
CDS
Synonymous[Ala5Ala]
60 .. 60
C/G
rs114382139
+
CDS
Nonsynonymous[Leu10Val]
60 .. 60
C/G
rs113259937
+
CDS
Nonsynonymous[Leu10Val]
60 .. 60
C/G
rs1143146
+
CDS
Nonsynonymous[Leu10Val]
60 .. 60
C/G
rs77016084
+
CDS
Nonsynonymous[Leu10Val]
60 .. 60
C/G
rs79473346
+
CDS
Nonsynonymous[Leu10Val]
73 .. 73
C/T
rs115527405
+
CDS
Nonsynonymous[Ser14Leu]
73 .. 73
C/T
rs77245357
+
CDS
Nonsynonymous[Ser14Leu]
73 .. 73
C/T
rs2230954
+
CDS
Nonsynonymous[Ser14Leu]
73 .. 73
C/T
rs77233523
+
CDS
Nonsynonymous[Ser14Leu]
74 .. 74
G/A
rs114226207
+
CDS
Synonymous[Ser14Ser]
78 .. 78
G/-
rs41548119
+
CDS
79 .. 79
C/T
rs41554816
+
CDS
Nonsynonymous[Ala16Val]
80 .. 80
C/T
rs116698226
+
CDS
Synonymous[Ala16Ala]
80 .. 80
C/T
rs111234930
+
CDS
Synonymous[Ala16Ala]
80 .. 80
C/T
rs74524559
+
CDS
Synonymous[Ala16Ala]
80 .. 80
C/T
rs78573734
+
CDS
Synonymous[Ala16Ala]
80 .. 80
C/T
rs41546314
+
CDS
Synonymous[Ala16Ala]
99 .. 99
T/A
rs76828561
+
CDS
Nonsynonymous[Trp23Arg]
99 .. 99
T/A
rs41564012
+
CDS
Nonsynonymous[Trp23Arg]
104 .. 104
G/A
rs115751338
+
CDS
Synonymous[Ala24Ala]
104 .. 104
G/A
rs74466662
+
CDS
Synonymous[Ala24Ala]
104 .. 104
G/A
rs1136656
+
CDS
Synonymous[Ala24Ala]
105 .. 105
G/C
rs114861372
+
CDS
Nonsynonymous[Gly25Arg]
110 .. 110
C/T
rs115811641
+
CDS
Synonymous[Ser26Ser]
110 .. 110
C/T
rs80316590
+
CDS
Synonymous[Ser26Ser]
110 .. 110
C/T
rs75043149
+
CDS
Synonymous[Ser26Ser]
110 .. 110
C/T
rs1136657
+
CDS
Synonymous[Ser26Ser]
110 .. 110
C/T
rs74579140
+
CDS
Synonymous[Ser26Ser]
113 .. 113
C/A/G
rs41541319
+
CDS
119 .. 119
G/A
rs72555394
+
CDS
Nonsynonymous[Met29Ile]
120 .. 120
A/G
rs75064259
+
CDS
Nonsynonymous[Arg30Gly]
121 .. 121
G/A
rs117205476
+
CDS
Nonsynonymous[Arg30Lys]
121 .. 121
G/A
rs45585732
+
CDS
Nonsynonymous[Arg30Lys]
122 .. 122
G/C
rs41557419
+
CDS
Nonsynonymous[Arg30Ser]
124 .. 124
A/G
rs41542421
+
CDS
Nonsynonymous[Tyr31Cys]
129 .. 129
T/A
rs115330165
+
CDS
Nonsynonymous[Phe33Ile]
129 .. 129
T/A
rs1136659
+
CDS
Nonsynonymous[Phe33Ile]
129 .. 129
T/A
rs75867621
+
CDS
Nonsynonymous[Phe33Ile]
130 .. 130
T/A/C
rs112039894
+
CDS
130 .. 130
T/C
rs75436713
+
CDS
Nonsynonymous[Phe33Ser]
130 .. 130
T/C
rs76217816
+
CDS
Nonsynonymous[Phe33Ser]
130 .. 130
T/C
rs80321556
+
CDS
Nonsynonymous[Phe33Ser]
130 .. 130
T/C/A
rs2075684
-
CDS
133 .. 133
C/T
rs41562020
+
CDS
Nonsynonymous[Thr34Ile]
134 .. 134
A/C
rs111938877
+
CDS
Synonymous[Thr34Thr]
134 .. 134
A/C/G/T
rs1059418
+
CDS
135 .. 135
T/A/G
rs41553516
+
CDS
136 .. 136
C/-/A
rs41562820
+
CDS
137 .. 137
C/-
rs41543612
+
CDS
138 .. 138
G/A
rs41545116
+
CDS
Nonsynonymous[Val36Met]
140 .. 140
G/C
rs41555114
+
CDS
Synonymous[Val36Val]
144 .. 144
C/T
rs114101108
+
CDS
Nonsynonymous[Arg38Trp]
144 .. 144
C/T
rs76382288
+
CDS
Nonsynonymous[Arg38Trp]
144 .. 144
C/T
rs45569434
+
CDS
Nonsynonymous[Arg38Trp]
145 .. 145
G/C
rs41554918
+
CDS
Nonsynonymous[Arg38Pro]
149 .. 149
C/T
rs45617033
+
CDS
Synonymous[Pro39Pro]
153 .. 153
C/A/T
rs1059423
+
CDS
155 .. 155
C/T
rs1059426
+
CDS
Synonymous[Arg41Arg]
156 .. 156
G/A/C
rs45442596
+
CDS
157 .. 157
G/A
rs41560112
+
CDS
Nonsynonymous[Gly42Glu]
158 .. 158
G/A
rs12721672
+
CDS
Synonymous[Gly42Gly]
159 .. 159
G/A
rs41549014
+
CDS
Nonsynonymous[Glu43Lys]
162 .. 162
C/A
rs61759956
+
CDS
Nonsynonymous[Pro44Thr]
163 .. 163
C/T
rs45514001
+
CDS
Nonsynonymous[Pro44Leu]
167 .. 167
C/A
rs72555395
+
CDS
Synonymous[Arg45Arg]
168 .. 168
T/-/A/C/G
rs41545314
+
CDS
168 .. 168
T/-
rs78046262
+
CDS
171 .. 171
A/G
rs76355537
+
CDS
Nonsynonymous[Ile47Val]
174 .. 174
G/A
rs115782106
+
CDS
Nonsynonymous[Ala48Thr]
174 .. 174
G/T
rs41552219
+
CDS
Nonsynonymous[Ala48Ser]
175 .. 175
C/T
rs11539954
+
CDS
Nonsynonymous[Ala48Val]
175 .. 175
C/T
rs72555396
+
CDS
Nonsynonymous[Ala48Val]
176 .. 176
C/A
rs113699656
+
CDS
Synonymous[Ala48Ala]
176 .. 176
C/A/G
rs12721675
+
CDS
176 .. 176
C/A
rs74506695
+
CDS
Synonymous[Ala48Ala]
177 .. 177
G/A
rs41544521
+
CDS
Nonsynonymous[Val49Met]
178 .. 178
T/G
rs28628184
+
CDS
Nonsynonymous[Val49Gly]
179 .. 179
G/C
rs72555397
+
CDS
Synonymous[Val49Val]
190 .. 190
A/G
rs76098253
+
CDS
Nonsynonymous[Asp53Gly]
192 .. 192
G/A/T
rs41549215
+
CDS
195 .. 195
A/G/T
rs1059438
+
CDS
196 .. 196
C/A
rs45463999
+
CDS
Nonsynonymous[Thr55Lys]
203 .. 203
C/A
rs41548421
+
CDS
Nonsynonymous[Phe57Leu]
208 .. 208
G/A
rs1059441
+
CDS
Nonsynonymous[Arg59Gln]
211 .. 211
T/G
rs41547916
+
CDS
Nonsynonymous[Phe60Cys]
212 .. 212
C/T
rs113559217
+
CDS
Synonymous[Phe60Phe]
212 .. 212
C/G/T
rs3173429
+
CDS
212 .. 212
C/T
rs75855780
+
CDS
Synonymous[Phe60Phe]
213 .. 213
G/C
rs11539959
+
CDS
Nonsynonymous[Asp61His]
218 .. 218
C/A/G
rs45491502
+
CDS
225 .. 225
G/A
rs11539961
+
CDS
Nonsynonymous[Ala65Thr]
226 .. 226
C/G
rs41557613
+
CDS
Nonsynonymous[Ala65Gly]
232 .. 232
A/G
rs115097486
+
CDS
Nonsynonymous[Gln67Arg]
232 .. 232
A/G
rs41559117
+
CDS
Nonsynonymous[Gln67Arg]
232 .. 232
A/G
rs79993619
+
CDS
Nonsynonymous[Gln67Arg]
235 .. 235
G/A
rs112117377
+
CDS
Nonsynonymous[Arg68Lys]
235 .. 235
G/A/C/T
rs707910
+
CDS
235 .. 235
G/A
rs74655243
+
CDS
Nonsynonymous[Arg68Lys]
243 .. 243
C/T
rs41554420
+
CDS
Nonsynonymous[Pro71Ser]
244 .. 244
C/T
rs41563719
+
CDS
Nonsynonymous[Pro71Leu]
246 .. 246
C/T
rs11539957
+
CDS
Nonsynonymous[Arg72Trp]
247 .. 247
G/C
rs41552215
+
CDS
Nonsynonymous[Arg72Pro]
248 .. 248
G/A
rs41562412
+
CDS
Synonymous[Arg72Arg]
249 .. 249
G/T
rs61759957
+
CDS
Nonsynonymous[Ala73Ser]
250 .. 250
C/A/G
rs72555398
+
CDS
251 .. 251
G/A
rs114843415
+
CDS
Synonymous[Ala73Ala]
251 .. 251
G/-/A/C/T
rs41563513
+
CDS
251 .. 251
G/-
rs78050357
+
CDS
253 .. 253
C/G/T
rs41555915
+
CDS
256 .. 256
G/A
rs41542016
+
CDS
AA-STOP[Trp75*]
260 .. 260
A/G
rs117162979
+
CDS
Nonsynonymous[Ile76Met]
260 .. 260
A/G
rs41544012
+
CDS
Nonsynonymous[Ile76Met]
260 .. 260
A/G
rs79123579
+
CDS
Nonsynonymous[Ile76Met]
265 .. 265
A/G
rs41559716
+
CDS
Nonsynonymous[Gln78Arg]
267 .. 267
G/A
rs41550321
+
CDS
Nonsynonymous[Glu79Lys]
268 .. 268
A/T
rs75991672
+
CDS
Nonsynonymous[Glu79Val]
270 .. 270
G/A
rs111870118
+
CDS
Nonsynonymous[Gly80Arg]
270 .. 270
G/A
rs79306805
+
CDS
Nonsynonymous[Gly80Arg]
270 .. 270
G/A
rs1059449
+
CDS
Nonsynonymous[Gly80Arg]
271 .. 271
G/A
rs1059451
+
CDS
Nonsynonymous[Gly80Glu]
272 .. 272
G/T
rs112310091
+
CDS
Synonymous[Gly80Gly]
272 .. 272
G/T
rs78625613
+
CDS
Synonymous[Gly80Gly]
272 .. 272
G/T
rs79810254
+
CDS
Synonymous[Gly80Gly]
272 .. 272
G/T
rs1059452
+
CDS
Synonymous[Gly80Gly]
273 .. 273
C/G
rs41560913
+
CDS
Nonsynonymous[Pro81Ala]
274 .. 274
C/T
rs41557815
+
CDS
Nonsynonymous[Pro81Leu]
275 .. 275
G/T
rs113341198
+
CDS
Synonymous[Pro81Pro]
275 .. 275
G/T
rs77821016
+
CDS
Synonymous[Pro81Pro]
275 .. 275
G/A/T
rs41541222
+
CDS
277 .. 277
A/C
rs72555399
+
CDS
Nonsynonymous[Glu82Ala]
283 .. 283
G/A
rs45523732
+
CDS
AA-STOP[Trp84*]
284 .. 284
G/-
rs41547423
+
CDS
285 .. 285
G/-/C
rs11539963
+
CDS
287 .. 287
C/T
rs61759958
+
CDS
Synonymous[Asp85Asp]
288 .. 288
C/G
rs116478746
+
CDS
Nonsynonymous[Gln86Glu]
288 .. 288
C/G
rs74452350
+
CDS
Nonsynonymous[Gln86Glu]
288 .. 288
C/G
rs1059455
+
CDS
Nonsynonymous[Gln86Glu]
289 .. 289
A/C/G/T
rs1064588
+
CDS
289 .. 289
A/G
rs74446775
+
CDS
Nonsynonymous[Gln86Arg]
289 .. 289
A/T/G
rs113505043
-
CDS
291 .. 291
G/A
rs116248502
+
CDS
Nonsynonymous[Glu87Lys]
291 .. 291
G/A
rs78658036
+
CDS
Nonsynonymous[Glu87Lys]
291 .. 291
G/A/C
rs2230991
+
CDS
293 .. 293
G/C
rs115282993
+
CDS
Nonsynonymous[Glu87Asp]
293 .. 293
G/-/A/C
rs1059457
+
CDS
296 .. 296
A/-/G
rs61759959
+
CDS
297 .. 297
C/G
rs115720613
+
CDS
Nonsynonymous[Arg89Gly]
297 .. 297
C/G
rs1059459
+
CDS
Nonsynonymous[Arg89Gly]
298 .. 298
G/-
rs61760860
+
CDS
299 .. 299
G/-
rs61760861
+
CDS
300 .. 300
A/-/C
rs41563014
+
CDS
301 .. 301
A/-
rs61760862
+
CDS
302 .. 302
T/A
rs112599652
+
CDS
Nonsynonymous[Asn90Lys]
302 .. 302
T/A
rs76523677
+
CDS
Nonsynonymous[Asn90Lys]
302 .. 302
T/A/C
rs1059460
+
CDS
303 .. 303
G/A
rs112909595
+
CDS
Nonsynonymous[Val91Met]
303 .. 303
G/A
rs79361534
+
CDS
Nonsynonymous[Val91Met]
303 .. 303
G/-/A
rs41564215
+
CDS
304 .. 304
T/-
rs61760863
+
CDS
305 .. 305
G/C
rs1059462
+
CDS
Synonymous[Val91Val]
305 .. 305
G/-/A
rs63739360
+
CDS
306 .. 306
A/-
rs61760864
+
CDS
307 .. 307
A/-/G
rs41560515
+
CDS
308 .. 308
G/-
rs61760865
+
CDS
310 .. 310
C/-/G/T
rs41553420
+
CDS
311 .. 311
C/-
rs61760866
+
CDS
312 .. 312
C/-
rs61760867
+
CDS
313 .. 313
A/-/C/G
rs45570938
+
CDS
314 .. 314
G/C
rs78073371
+
CDS
Nonsynonymous[Gln94His]
314 .. 314
G/C
rs78306866
+
CDS
Nonsynonymous[Gln94His]
314 .. 314
G/C
rs72657642
+
CDS
Nonsynonymous[Gln94His]
314 .. 314
G/C
rs1059463
+
CDS
Nonsynonymous[Gln94His]
315 .. 315
T/G
rs1059467
+
CDS
Nonsynonymous[Ser95Ala]
315 .. 315
T/-
rs63682561
+
CDS
316 .. 316
C/-
rs61760911
+
CDS
317 .. 317
A/-
rs61760912
+
CDS
318 .. 318
C/-
rs61760913
+
CDS
319 .. 319
A/-
rs61760914
+
CDS
320 .. 320
G/-
rs61760915
+
CDS
321 .. 321
A/-/G
rs41564216
+
CDS
322 .. 322
C/T
rs112276836
+
CDS
Nonsynonymous[Thr97Ile]
322 .. 322
C/G/T
rs1059471
+
CDS
324 .. 324
G/C
rs74979578
+
CDS
Nonsynonymous[Asp98His]
324 .. 324
G/C
rs75646802
+
CDS
Nonsynonymous[Asp98His]
324 .. 324
G/A/C
rs1136683
+
CDS
326 .. 326
C/A/T
rs41562515
+
CDS
327 .. 327
C/A/T
rs41542015
+
CDS
329 .. 329
A/C/G
rs41556115
+
CDS
330 .. 330
G/C
rs55780271
+
CDS
Nonsynonymous[Val100Leu]
331 .. 331
T/C
rs115148713
+
CDS
Nonsynonymous[Val100Ala]
331 .. 331
T/A/C
rs1071742
+
CDS
332 .. 332
G/A
rs77174534
+
CDS
Synonymous[Val100Val]
333 .. 333
G/A
rs113385995
+
CDS
Nonsynonymous[Asp101Asn]
333 .. 333
G/A
rs1136688
+
CDS
Nonsynonymous[Asp101Asn]
334 .. 334
A/G
rs2231004
+
CDS
Nonsynonymous[Asp101Gly]
335 .. 335
C/A/T
rs41555113
+
CDS
339 .. 339
G/C
rs1136689
+
CDS
Nonsynonymous[Gly103Arg]
340 .. 340
G/A/C
rs41552317
+
CDS
341 .. 341
G/T
rs61760916
+
CDS
Synonymous[Gly103Gly]
343 .. 343
C/T
rs114427306
+
CDS
Nonsynonymous[Thr104Ile]
343 .. 343
C/T
rs1136690
+
CDS
Nonsynonymous[Thr104Ile]
345 .. 345
C/G
rs9260138
+
CDS
Nonsynonymous[Leu105Val]
346 .. 346
T/C
rs9260139
+
CDS
Nonsynonymous[Leu105Pro]
348 .. 348
C/A
rs78974056
+
CDS
Nonsynonymous[Arg106Ser]
349 .. 349
G/A/T
rs9260140
+
CDS
350 .. 350
C/T
rs41555621
+
CDS
Synonymous[Arg106Arg]
351 .. 351
G/C
rs117811937
+
CDS
Nonsynonymous[Gly107Arg]
351 .. 351
G/C
rs1136691
+
CDS
Nonsynonymous[Gly107Arg]
356 .. 356
C/G
rs41562119
+
CDS
AA-STOP[Tyr108*]
357 .. 357
T/C
rs45572937
+
CDS
Nonsynonymous[Tyr109His]
363 .. 363
C/G
rs41541814
+
CDS
Nonsynonymous[Gln111Glu]
365 .. 365
G/A/C
rs41555312
+
CDS
369 .. 369
G/A
rs41559912
+
CDS
Nonsynonymous[Glu113Lys]
370 .. 370
A/G
rs41556317
+
CDS
Nonsynonymous[Glu113Gly]
371 .. 371
G/A
rs41563617
+
CDS
Synonymous[Glu113Glu]
372 .. 372
G/C
rs41555613
+
CDS
Nonsynonymous[Ala114Pro]
373 .. 373
C/A
rs80246530
+
CDS
Nonsynonymous[Ala114Asp]
373 .. 373
C/A
rs1136692
+
CDS
Nonsynonymous[Ala114Asp]
374 .. 374
C/G
rs41544316
+
CDS
Synonymous[Ala114Ala]
375 .. 375
G/T
rs41543912
+
CDS
Nonsynonymous[Gly115Cys]
377 .. 377
T/G
rs41543220
+
CDS
Synonymous[Gly115Gly]
378 .. 378
T/A/G
rs41543114
+
CDS
381 .. 381
C/G
rs79493767
+
CDS
Nonsynonymous[His117Asp]
383 .. 383
C/T
rs41556913
+
CDS
Synonymous[His117His]
387 .. 387
A/C
rs111457285
+
CDS
Nonsynonymous[Ile119Leu]
387 .. 387
A/C/G/T
rs1071743
+
CDS
389 .. 389
C/-/G/T
rs41559619
+
CDS
390 .. 390
C/-
rs41556912
+
CDS
391 .. 391
A/-/T
rs41546515
+
CDS
392 .. 392
G/-
rs41550512
+
CDS
393 .. 393
A/-/G/T
rs41549813
+
CDS
394 .. 394
T/G
rs116162943
+
CDS
Nonsynonymous[Ile121Arg]
394 .. 394
T/-/A/G
rs3180267
+
CDS
395 .. 395
A/G
rs111547432
+
CDS
Nonsynonymous[Ile121Met]
395 .. 395
A/G
rs1136695
+
CDS
Nonsynonymous[Ile121Met]
395 .. 395
A/G
rs74992257
+
CDS
Nonsynonymous[Ile121Met]
396 .. 396
A/T
rs74528514
+
CDS
Nonsynonymous[Met122Leu]
397 .. 397
T/C
rs45533435
+
CDS
Nonsynonymous[Met122Thr]
399 .. 399
T/A/C
rs41551416
+
CDS
400 .. 400
A/T
rs115442991
+
CDS
Nonsynonymous[Tyr123Phe]
400 .. 400
A/G/T
rs1136697
+
CDS
400 .. 400
A/T
rs79073194
+
CDS
Nonsynonymous[Tyr123Phe]
405 .. 405
T/-
rs41548122
+
CDS
406 .. 406
G/-
rs41553315
+
CDS
407 .. 407
C/-
rs41558319
+
CDS
408 .. 408
G/-/A/C/T
rs41560216
+
CDS
409 .. 409
A/-
rs41544815
+
CDS
410 .. 410
C/-
rs41556114
+
CDS
411 .. 411
G/A
rs56343262
+
CDS
Nonsynonymous[Val127Met]
417 .. 417
T/C
rs111367452
+
CDS
Nonsynonymous[Ser129Pro]
417 .. 417
T/C
rs1136700
+
CDS
Nonsynonymous[Ser129Pro]
417 .. 417
T/C
rs76230189
+
CDS
Nonsynonymous[Ser129Pro]
419 .. 419
G/C
rs45505094
+
CDS
Synonymous[Ser129Ser]
423 .. 423
G/T
rs111686806
+
CDS
Nonsynonymous[Gly131Trp]
423 .. 423
G/T
rs1136702
+
CDS
Nonsynonymous[Gly131Trp]
423 .. 423
G/T
rs74452443
+
CDS
Nonsynonymous[Gly131Trp]
424 .. 424
G/A
rs41557118
+
CDS
Nonsynonymous[Gly131Glu]
425 .. 425
G/A
rs41561714
+
CDS
Synonymous[Gly131Gly]
427 .. 427
G/A/C
rs41561719
+
CDS
428 .. 428
C/A
rs41559312
+
CDS
Synonymous[Arg132Arg]
429 .. 429
T/C
rs113712567
+
CDS
Nonsynonymous[Phe133Leu]
429 .. 429
T/C
rs1059488
+
CDS
Nonsynonymous[Phe133Leu]
431 .. 431
C/A
rs41560917
+
CDS
Nonsynonymous[Phe133Leu]
434 .. 434
C/G
rs116681107
+
CDS
Synonymous[Leu134Leu]
434 .. 434
C/G
rs41563718
+
CDS
Synonymous[Leu134Leu]
435 .. 435
C/T
rs41543413
+
CDS
Nonsynonymous[Arg135Cys]
436 .. 436
G/A
rs41548812
+
CDS
Nonsynonymous[Arg135His]
438 .. 438
G/A
rs45542135
+
CDS
Nonsynonymous[Gly136Arg]
440 .. 440
G/T
rs61760917
+
CDS
Synonymous[Gly136Gly]
441 .. 441
T/C
rs45444095
+
CDS
Nonsynonymous[Tyr137His]
443 .. 443
C/T
rs41540615
+
CDS
Synonymous[Tyr137Tyr]
444 .. 444
C/A/G
rs41540315
+
CDS
445 .. 445
G/A
rs111464394
+
CDS
Nonsynonymous[Arg138Gln]
445 .. 445
G/A/C
rs3173420
+
CDS
445 .. 445
G/A
rs76618411
+
CDS
Nonsynonymous[Arg138Gln]
445 .. 446
GG/AC
rs66488547
+
CDS
446 .. 446
G/C
rs115176787
+
CDS
Synonymous[Arg138Arg]
446 .. 446
G/A/C
rs12721717
+
CDS
446 .. 446
G/C
rs78160437
+
CDS
Synonymous[Arg138Arg]
448 .. 448
A/G
rs41560122
+
CDS
Nonsynonymous[Gln139Arg]
450 .. 450
G/T
rs113184014
+
CDS
Nonsynonymous[Asp140Tyr]
450 .. 450
G/A/C/T
rs3173419
+
CDS
450 .. 450
G/T
rs80183706
+
CDS
Nonsynonymous[Asp140Tyr]
451 .. 451
A/C/T
rs41557212
+
CDS
452 .. 452
C/G/T
rs41556016
+
CDS
455 .. 455
C/T
rs111989682
+
CDS
Synonymous[Ala141Ala]
455 .. 455
C/T
rs3173418
+
CDS
Synonymous[Ala141Ala]
458 .. 458
C/A
rs41553319
+
CDS
AA-STOP[Tyr142*]
459 .. 459
G/T
rs41554014
+
CDS
Nonsynonymous[Asp143Tyr]
462 .. 462
G/C
rs78467407
+
CDS
Nonsynonymous[Gly144Arg]
462 .. 462
G/T
rs11539964
+
CDS
Nonsynonymous[Gly144Cys]
466 .. 466
A/G
rs45468091
+
CDS
Nonsynonymous[Lys145Arg]
477 .. 477
G/T
rs41542119
+
CDS
Nonsynonymous[Ala149Ser]
480 .. 480
C/T
rs112792387
+
CDS
Synonymous[Leu150Leu]
480 .. 480
C/T
rs1059506
+
CDS
Synonymous[Leu150Leu]
480 .. 480
C/T
rs75544716
+
CDS
Synonymous[Leu150Leu]
482 .. 482
G/A
rs41558213
+
CDS
Synonymous[Leu150Leu]
485 .. 485
C/A
rs112130472
+
CDS
Nonsynonymous[Asn151Lys]
485 .. 485
C/A
rs76473713
+
CDS
Nonsynonymous[Asn151Lys]
485 .. 485
C/A
rs1059509
+
CDS
Nonsynonymous[Asn151Lys]
485 .. 485
C/A
rs75668521
+
CDS
Nonsynonymous[Asn151Lys]
486 .. 486
G/C
rs45482492
+
CDS
Nonsynonymous[Glu152Gln]
487 .. 487
A/T
rs41563921
+
CDS
Nonsynonymous[Glu152Val]
488 .. 488
G/A/C
rs41558424
+
CDS
489 .. 489
G/C
rs75592581
+
CDS
Nonsynonymous[Asp153His]
495 .. 495
C/A
rs41552413
+
CDS
Nonsynonymous[Arg155Ser]
500 .. 500
T/C
rs41551213
+
CDS
Synonymous[Ser156Ser]
507 .. 507
G/C
rs76385482
+
CDS
Nonsynonymous[Ala159Pro]
508 .. 508
C/T
rs80300804
+
CDS
Nonsynonymous[Ala159Val]
509 .. 509
G/A
rs41542714
+
CDS
Synonymous[Ala159Ala]
511 .. 511
C/T
rs78923580
+
CDS
Nonsynonymous[Ala160Val]
512 .. 512
G/A
rs41557413
+
CDS
Synonymous[Ala160Ala]
514 .. 514
A/C
rs115404010
+
CDS
Nonsynonymous[Asp161Ala]
514 .. 514
A/C
rs72555400
+
CDS
Nonsynonymous[Asp161Ala]
516 .. 516
A/G/T
rs45474295
+
CDS
517 .. 517
T/A/C/G
rs41549316
+
CDS
518 .. 518
G/C
rs79442106
+
CDS
Nonsynonymous[Met162Ile]
519 .. 519
G/C
rs61760918
+
CDS
Nonsynonymous[Ala163Pro]
520 .. 520
C/A/T
rs41548515
+
CDS
521 .. 521
G/A
rs115532709
+
CDS
Synonymous[Ala163Ala]
521 .. 521
G/A
rs74615302
+
CDS
Synonymous[Ala163Ala]
521 .. 521
G/A
rs1059514
+
CDS
Synonymous[Ala163Ala]
525 .. 525
C/G/T
rs41541518
+
CDS
526 .. 526
A/C/G
rs41558916
+
CDS
528 .. 528
A/T
rs41544016
+
CDS
Nonsynonymous[Ile166Phe]
529 .. 529
T/C
rs111853752
+
CDS
Nonsynonymous[Ile166Thr]
529 .. 529
T/C
rs1059516
+
CDS
Nonsynonymous[Ile166Thr]
530 .. 530
C/T
rs41559615
+
CDS
Synonymous[Ile166Ile]
534 .. 534
A/C
rs113413483
+
CDS
Nonsynonymous[Lys168Gln]
534 .. 534
A/C/G
rs1059517
+
CDS
534 .. 534
A/C
rs76715483
+
CDS
Nonsynonymous[Lys168Gln]
534 .. 534
A/C
rs75473680
-
CDS
Nonsynonymous[Lys168Gln]
535 .. 535
A/G
rs41540118
+
CDS
Nonsynonymous[Lys168Arg]
538 .. 538
G/A
rs111965878
+
CDS
Nonsynonymous[Arg169His]
538 .. 538
G/A
rs1059520
+
CDS
Nonsynonymous[Arg169His]
542 .. 542
G/A
rs78691935
+
CDS
Synonymous[Lys170Lys]
549 .. 549
G/A
rs113286168
+
CDS
Nonsynonymous[Ala173Thr]
549 .. 549
G/A
rs76426804
+
CDS
Nonsynonymous[Ala173Thr]
549 .. 549
G/A/T
rs1059526
+
CDS
550 .. 550
C/T
rs41544019
+
CDS
Nonsynonymous[Ala173Val]
551 .. 551
G/A/C
rs41557714
+
CDS
553 .. 553
C/T
rs113119765
+
CDS
Nonsynonymous[Ala174Val]
553 .. 553
C/T
rs1059535
+
CDS
Nonsynonymous[Ala174Val]
553 .. 553
C/T
rs76507145
+
CDS
Nonsynonymous[Ala174Val]
555 .. 555
C/A
rs41562118
+
CDS
Nonsynonymous[His175Asn]
556 .. 556
A/G
rs114929634
+
CDS
Nonsynonymous[His175Arg]
556 .. 556
A/G/T
rs1059536
+
CDS
556 .. 556
A/G
rs11539956
+
CDS
Nonsynonymous[His175Arg]
556 .. 556
A/G
rs75486381
+
CDS
Nonsynonymous[His175Arg]
556 .. 556
A/G
rs78834059
+
CDS
Nonsynonymous[His175Arg]
557 .. 557
T/A/C
rs41559516
+
CDS
558 .. 558
G/C/T
rs1059537
+
CDS
559 .. 559
A/C/T
rs112069136
+
CDS
559 .. 559
A/C/G/T
rs9256983
+
CDS
559 .. 559
A/T
rs75099686
+
CDS
Nonsynonymous[Glu176Val]
559 .. 559
A/T
rs76249018
+
CDS
Nonsynonymous[Glu176Val]
559 .. 559
A/C/T
rs79527524
+
CDS
562 .. 562
C/-/A/G/T
rs41563816
+
CDS
563 .. 563
G/A
rs41551317
+
CDS
Synonymous[Ala177Ala]
564 .. 564
G/T
rs41564114
+
CDS
AA-STOP[Glu178*]
567 .. 567
C/T
rs77903928
+
CDS
AA-STOP[Gln179*]
568 .. 568
A/G
rs78674188
+
CDS
Nonsynonymous[Gln179Arg]
570 .. 570
T/C
rs116583109
+
CDS
Synonymous[Leu180Leu]
570 .. 570
T/C
rs9260155
+
CDS
Synonymous[Leu180Leu]
570 .. 570
T/C
rs78034433
+
CDS
Synonymous[Leu180Leu]
571 .. 571
T/A/G
rs111578681
+
CDS
571 .. 571
T/A/G
rs9260156
+
CDS
571 .. 571
T/G
rs79798406
+
CDS
Nonsynonymous[Leu180Trp]
571 .. 571
T/G
rs76901040
+
CDS
Nonsynonymous[Leu180Trp]
574 .. 574
G/A/C
rs41551921
+
CDS
575 .. 575
A/G
rs45495505
+
CDS
Synonymous[Arg181Arg]
576 .. 576
G/C
rs41540012
+
CDS
Nonsynonymous[Ala182Pro]
577 .. 577
C/T
rs111509830
+
CDS
Nonsynonymous[Ala182Val]
577 .. 577
C/T
rs9260157
+
CDS
Nonsynonymous[Ala182Val]
577 .. 577
C/T
rs79496020
+
CDS
Nonsynonymous[Ala182Val]
577 .. 577
C/T
rs1059539
+
CDS
Nonsynonymous[Ala182Val]
582 .. 582
C/T
rs72555401
+
CDS
Synonymous[Leu184Leu]
585 .. 585
G/C/T
rs41541015
+
CDS
587 .. 587
T/G
rs113679013
+
CDS
Nonsynonymous[Asp185Glu]
587 .. 587
T/G
rs76087925
+
CDS
Nonsynonymous[Asp185Glu]
587 .. 587
T/G
rs1059542
+
CDS
Nonsynonymous[Asp185Glu]
587 .. 587
T/G
rs75520084
+
CDS
Nonsynonymous[Asp185Glu]
587 .. 587
T/G
rs78969666
+
CDS
Nonsynonymous[Asp185Glu]
589 .. 589
G/C
rs41545519
+
CDS
Nonsynonymous[Gly186Ala]
590 .. 590
C/-
rs41545516
+
CDS
591 .. 591
A/C
rs79069981
+
CDS
Nonsynonymous[Thr187Pro]
591 .. 591
A/T/G/C
rs3129018
-
CDS
592 .. 592
C/G
rs79374907
+
CDS
Nonsynonymous[Thr187Arg]
592 .. 592
C/T/G/A
rs3129017
-
CDS
593 .. 593
G/C
rs41547914
+
CDS
Synonymous[Thr187Thr]
595 .. 595
G/C/T
rs41552712
+
CDS
596 .. 596
C/A
rs41558913
+
CDS
AA-STOP[Cys188*]
597 .. 597
G/A/C/T
rs41562120
+
CDS
598 .. 598
T/C
rs61760919
+
CDS
Nonsynonymous[Val189Ala]
601 .. 601
A/T
rs41560823
+
CDS
Nonsynonymous[Glu190Val]
602 .. 602
G/C
rs74914698
+
CDS
Nonsynonymous[Glu190Asp]
602 .. 602
G/C
rs74544126
+
CDS
Nonsynonymous[Glu190Asp]
602 .. 602
G/C
rs3129016
-
CDS
Nonsynonymous[Glu190Asp]
603 .. 603
T/A/C/G
rs3098019
+
CDS
603 .. 603
T/G
rs78878174
+
CDS
Nonsynonymous[Trp191Gly]
603 .. 603
T/G
rs76185201
+
CDS
Nonsynonymous[Trp191Gly]
607 .. 607
T/G
rs45572432
+
CDS
Nonsynonymous[Leu192Arg]
608 .. 608
C/T
rs61760920
+
CDS
Synonymous[Leu192Leu]
614 .. 614
A/C
rs45564240
+
CDS
Nonsynonymous[Arg194Ser]
615 .. 615
T/C
rs41563116
+
CDS
Nonsynonymous[Tyr195His]
618 .. 618
C/G
rs41557122
+
CDS
Nonsynonymous[Leu196Val]
619 .. 619
T/A/G
rs45552635
+
CDS
621 .. 621
G/A
rs41548412
+
CDS
Nonsynonymous[Glu197Lys]
627 .. 627
G/A/C
rs41559916
+
CDS
629 .. 629
G/T
rs41551117
+
CDS
Synonymous[Gly199Gly]
633 .. 633
G/A
rs41546018
+
CDS
Nonsynonymous[Glu201Lys]
634 .. 634
A/T
rs70944746
+
CDS
Nonsynonymous[Glu201Val]
637 .. 637
C/T
rs9391665
+
CDS
Nonsynonymous[Thr202Met]
646 .. 646
G/-
rs77614923
+
CDS
646 .. 646
G/A
rs17185861
+
CDS
Nonsynonymous[Arg205His]
648 .. 648
A/G
rs117156320
+
CDS
Nonsynonymous[Thr206Ala]
648 .. 648
A/G
rs41557913
+
CDS
Nonsynonymous[Thr206Ala]
650 .. 650
G/T
rs115073453
+
CDS
Synonymous[Thr206Thr]
650 .. 650
G/C/T
rs41554520
+
CDS
651 .. 651
G/A
rs62687162
+
CDS
Nonsynonymous[Asp207Asn]
653 .. 653
C/T
rs41544717
+
CDS
Synonymous[Asp207Asp]
654 .. 654
C/G
rs115325458
+
CDS
Nonsynonymous[Pro208Ala]
654 .. 654
C/G
rs1136741
+
CDS
Nonsynonymous[Pro208Ala]
659 .. 659
C/-
rs75368153
+
CDS
661 .. 661
A/G
rs41557315
+
CDS
Nonsynonymous[Lys210Arg]
662 .. 662
G/A
rs1136746
+
CDS
Synonymous[Lys210Lys]
665 .. 665
A/G
rs1136749
+
CDS
Synonymous[Thr211Thr]
666 .. 666
C/G
rs61760921
+
CDS
Nonsynonymous[His212Asp]
674 .. 674
C/T
rs2231075
+
CDS
Synonymous[Thr214Thr]
674 .. 674
C/T
rs1136754
+
CDS
Synonymous[Thr214Thr]
677 .. 677
C/T
rs45520243
+
CDS
Synonymous[His215His]
678 .. 678
C/T
rs77235917
+
CDS
Nonsynonymous[His216Tyr]
680 .. 680
C/A/T
rs41554113
+
CDS
681 .. 681
C/G
rs1059563
+
CDS
Nonsynonymous[Pro217Ala]
682 .. 682
C/G/T
rs45562634
+
CDS
683 .. 683
C/T
rs1059564
+
CDS
Synonymous[Pro217Pro]
684 .. 684
A/G
rs9260179
+
CDS
Nonsynonymous[Ile218Val]
698 .. 698
G/A
rs12721753
+
CDS
Synonymous[Glu222Glu]
704 .. 704
C/T
rs74658171
+
CDS
Synonymous[Thr224Thr]
704 .. 704
C/T
rs76648830
+
CDS
Synonymous[Thr224Thr]
704 .. 704
C/T
rs1059570
+
CDS
Synonymous[Thr224Thr]
710 .. 710
G/A
rs77380700
+
CDS
Synonymous[Arg226Arg]
710 .. 710
G/A
rs12721755
+
CDS
Synonymous[Arg226Arg]
723 .. 723
G/A
rs9260180
+
CDS
Nonsynonymous[Gly231Ser]
724 .. 724
G/A
rs41559423
+
CDS
Nonsynonymous[Gly231Asp]
731 .. 731
C/A
rs61760922
+
CDS
AA-STOP[Tyr233*]
737 .. 737
G/A
rs41562919
+
CDS
Synonymous[Ala235Ala]
740 .. 740
G/A
rs56124255
+
CDS
Synonymous[Glu236Glu]
747 .. 747
C/T
rs41543116
+
CDS
Synonymous[Leu239Leu]
759 .. 759
C/T
rs72558105
+
CDS
Nonsynonymous[Arg243Trp]
760 .. 760
G/A
rs41553815
+
CDS
Nonsynonymous[Arg243Gln]
774 .. 774
C/T
rs41556217
+
CDS
AA-STOP[Gln248*]
778 .. 778
C/T
rs41551612
+
CDS
Nonsynonymous[Thr249Ile]
782 .. 782
G/-
rs66729206
+
CDS
782 .. 782
G/C
rs45469394
+
CDS
Nonsynonymous[Gln250His]
782 .. 782
G/-
rs113337937
+
CDS
782 .. 782
G/-
rs60304108
+
CDS
783 .. 783
G/-
rs45576436
+
CDS
783 .. 783
G/C
rs59581768
+
CDS
Nonsynonymous[Asp251His]
787 .. 787
C/T
rs61760923
+
CDS
Nonsynonymous[Thr252Met]
788 .. 788
G/A
rs41563538
+
CDS
Synonymous[Thr252Thr]
794 .. 794
C/T
rs76592207
+
CDS
Synonymous[Leu254Leu]
794 .. 794
C/T
rs9260181
+
CDS
Synonymous[Leu254Leu]
794 .. 794
C/T
rs111860546
+
CDS
Synonymous[Leu254Leu]
795 .. 795
G/A
rs74996856
+
CDS
Nonsynonymous[Val255Met]
795 .. 795
G/A
rs80073174
+
CDS
Nonsynonymous[Val255Met]
795 .. 795
G/A
rs60318678
+
CDS
Nonsynonymous[Val255Met]
797 .. 797
G/T
rs41561918
+
CDS
Synonymous[Val255Val]
800 .. 800
G/C
rs41563419
+
CDS
Nonsynonymous[Glu256Asp]
808 .. 808
C/T
rs41550416
+
CDS
Nonsynonymous[Pro259Leu]
811 .. 811
C/A
rs41540417
+
CDS
Nonsynonymous[Ala260Glu]
812 .. 812
A/-
rs79919235
+
CDS
812 .. 812
A/-/C
rs41563812
+
CDS
821 .. 821
A/G
rs1059617
+
CDS
Synonymous[Gly263Gly]
821 .. 821
A/G
rs9260182
+
CDS
Synonymous[Gly263Gly]
821 .. 821
A/G
rs80017379
+
CDS
Synonymous[Gly263Gly]
823 .. 823
C/A
rs41548917
+
CDS
Nonsynonymous[Thr264Asn]
833 .. 833
G/C
rs61760924
+
CDS
Nonsynonymous[Lys267Asn]
838 .. 838
C/T
rs41562917
+
CDS
Nonsynonymous[Ala269Val]
839 .. 839
G/A
rs2231092
+
CDS
Synonymous[Ala269Ala]
839 .. 839
G/A/C
rs12721762
+
CDS
840 .. 840
G/T
rs2231093
+
CDS
Nonsynonymous[Ala270Ser]
840 .. 840
G/A/T
rs1059632
+
CDS
843 .. 843
G/A
rs77614270
+
CDS
Nonsynonymous[Val271Met]
851 .. 851
G/A
rs78673345
+
CDS
Synonymous[Val273Val]
851 .. 851
G/A
rs41548715
+
CDS
Synonymous[Val273Val]
851 .. 851
G/A
rs1059638
+
CDS
Synonymous[Val273Val]
861 .. 861
G/C
rs75766454
+
CDS
Nonsynonymous[Glu277Gln]
861 .. 861
G/A/C/T
rs2231095
+
CDS
867 .. 867
C/A
rs1059644
+
CDS
Nonsynonymous[Gln279Lys]
875 .. 875
C/A
rs41555316
+
CDS
AA-STOP[Tyr281*]
877 .. 877
C/A
rs76388977
+
CDS
Nonsynonymous[Thr282Asn]
885 .. 885
G/A
rs56236193
+
CDS
Nonsynonymous[Val285Met]
890 .. 890
G/T
rs11539960
+
CDS
Nonsynonymous[Gln286His]
898 .. 898
G/A/T
rs55678004
+
CDS
900 .. 900
C/T
rs116447243
+
CDS
Synonymous[Leu290Leu]
900 .. 900
C/T
rs78896137
+
CDS
Synonymous[Leu290Leu]
900 .. 900
C/T
rs1059686
+
CDS
Synonymous[Leu290Leu]
902 .. 902
G/C
rs114818671
+
CDS
Synonymous[Leu290Leu]
902 .. 902
G/C
rs3179236
+
CDS
Synonymous[Leu290Leu]
902 .. 902
G/C
rs1136832
+
CDS
Synonymous[Leu290Leu]
906 .. 906
A/G
rs1136835
+
CDS
Nonsynonymous[Lys292Glu]
916 .. 916
C/T
rs61760925
+
CDS
Nonsynonymous[Thr295Ile]
922 .. 922
G/C
rs41545513
+
CDS
Nonsynonymous[Arg297Thr]
922 .. 922
G/A
rs78135374
+
CDS
Nonsynonymous[Arg297Lys]
922 .. 922
G/A
rs111791728
-
CDS
Nonsynonymous[Arg297Lys]
931 .. 931
T/C
rs116537579
+
CDS
Nonsynonymous[Leu300Pro]
931 .. 931
T/C
rs1136903
+
CDS
Nonsynonymous[Leu300Pro]
931 .. 931
T/C
rs77430870
+
CDS
Nonsynonymous[Leu300Pro]
931 .. 932
TG/CA
rs35946537
-
CDS
932 .. 932
G/A
rs116678179
+
CDS
Synonymous[Leu300Leu]
932 .. 932
G/A
rs1136917
+
CDS
Synonymous[Leu300Leu]
932 .. 932
G/A
rs78418304
+
CDS
Synonymous[Leu300Leu]
948 .. 948
A/G
rs114694793
+
CDS
Nonsynonymous[Ile306Val]
948 .. 948
A/G
rs1136949
+
CDS
Nonsynonymous[Ile306Val]
948 .. 948
A/G
rs79259093
+
CDS
Nonsynonymous[Ile306Val]
952 .. 952
C/A
rs115629042
+
CDS
Nonsynonymous[Pro307His]
952 .. 952
C/A
rs41558618
+
CDS
Nonsynonymous[Pro307His]
952 .. 952
C/A
rs75326938
+
CDS
Nonsynonymous[Pro307His]
953 .. 953
C/-
rs45483999
+
CDS
954 .. 954
A/-
rs45528238
+
CDS
955 .. 955
T/-
rs45498192
+
CDS
956 .. 956
C/T
rs41555922
+
CDS
Synonymous[Ile308Ile]
957 .. 957
G/-
rs45542447
+
CDS
958 .. 958
T/-
rs45459392
+
CDS
959 .. 959
G/-
rs45560239
+
CDS
960 .. 960
G/-
rs45599732
+
CDS
961 .. 961
G/-
rs45594832
+
CDS
962 .. 962
C/-
rs45595138
+
CDS
963 .. 963
A/-
rs45595537
+
CDS
964 .. 964
T/-
rs45626140
+
CDS
965 .. 965
C/-
rs45620136
+
CDS
966 .. 966
A/C
rs114576045
+
CDS
Nonsynonymous[Ile312Leu]
966 .. 966
A/C
rs41554316
+
CDS
Nonsynonymous[Ile312Leu]
966 .. 966
A/C
rs79552292
-
CDS
Nonsynonymous[Ile312Leu]
967 .. 967
T/-
rs45547531
+
CDS
968 .. 968
T/-
rs45594138
+
CDS
969 .. 969
G/-
rs45623735
+
CDS
970 .. 970
C/-
rs45540136
+
CDS
971 .. 971
T/-
rs45465701
+
CDS
972 .. 972
G/-
rs45597331
+
CDS
973 .. 973
G/-
rs45520735
+
CDS
974 .. 974
C/-
rs45451595
+
CDS
975 .. 975
C/-
rs45600843
+
CDS
976 .. 976
T/-
rs45452399
+
CDS
977 .. 977
G/A
rs1059846
+
CDS
Synonymous[Leu315Leu]
978 .. 978
G/-
rs45621936
+
CDS
979 .. 979
T/-
rs45565034
+
CDS
980 .. 980
T/-
rs45624132
+
CDS
981 .. 981
C/-
rs45495803
+
CDS
982 .. 982
T/-
rs45481493
+
CDS
983 .. 983
C/-
rs45451606
+
CDS
984 .. 984
C/T
rs115662401
+
CDS
Nonsynonymous[Leu318Phe]
984 .. 984
C/T
rs3179982
+
CDS
Nonsynonymous[Leu318Phe]
984 .. 984
C/T
rs79377647
+
CDS
Nonsynonymous[Leu318Phe]
985 .. 985
T/-
rs45532837
+
CDS
986 .. 986
T/-
rs45536333
+
CDS
987 .. 987
G/-
rs45608135
+
CDS
988 .. 988
G/C
rs41550912
+
CDS
Nonsynonymous[Gly319Ala]
989 .. 989
A/-
rs45492195
+
CDS
990 .. 990
G/-
rs45512104
+
CDS
991 .. 991
C/-
rs45521042
+
CDS
992 .. 992
T/-
rs45476592
+
CDS
993 .. 993
G/A
rs1059896
+
CDS
Nonsynonymous[Val321Met]
994 .. 994
T/-
rs45558935
+
CDS
995 .. 995
G/-
rs45513603
+
CDS
995 .. 995
G/C
rs11539965
+
CDS
Synonymous[Val321Val]
996 .. 996
A/T
rs116025560
+
CDS
Nonsynonymous[Ile322Phe]
996 .. 996
A/T
rs3180278
+
CDS
Nonsynonymous[Ile322Phe]
997 .. 997
T/-
rs45480495
+
CDS
998 .. 998
C/-
rs45488104
+
CDS
999 .. 999
A/G
rs115270926
+
CDS
Nonsynonymous[Thr323Ala]
999 .. 999
A/G
rs1137078
+
CDS
Nonsynonymous[Thr323Ala]
999 .. 999
A/G
rs74413311
+
CDS
Nonsynonymous[Thr323Ala]
1000 .. 1000
C/-
rs45624440
+
CDS
1001 .. 1001
T/-
rs45480791
+
CDS
1002 .. 1002
G/-
rs45532831
+
CDS
1003 .. 1003
G/-
rs45461999
+
CDS
1004 .. 1004
A/-
rs45547039
+
CDS
1005 .. 1005
G/-
rs45575634
+
CDS
1006 .. 1006
C/-
rs45614333
+
CDS
1007 .. 1007
T/-
rs45444399
+
CDS
1008 .. 1008
G/-
rs45488301
+
CDS
1009 .. 1009
T/-
rs45571534
+
CDS
1010 .. 1010
G/-
rs45584337
+
CDS
1011 .. 1011
G/-
rs45500995
+
CDS
1012 .. 1012
T/-
rs45549133
+
CDS
1013 .. 1013
C/-
rs45522832
+
CDS
1014 .. 1014
G/-
rs45491793
+
CDS
1015 .. 1015
C/-
rs45445096
+
CDS
1016 .. 1016
T/-
rs45610532
+
CDS
1017 .. 1017
G/-
rs45516693
+
CDS
1018 .. 1018
C/-
rs45475499
+
CDS
1019 .. 1019
C/T
rs115045745
+
CDS
Synonymous[Ala329Ala]
1019 .. 1019
C/T
rs1141891
+
CDS
Synonymous[Ala329Ala]
1019 .. 1019
C/T
rs77107686
+
CDS
Synonymous[Ala329Ala]
1020 .. 1020
G/-
rs45521737
+
CDS
1021 .. 1021
T/-
rs45518237
+
CDS
1022 .. 1022
G/-
rs45460095
+
CDS
1023 .. 1023
A/-
rs45571438
+
CDS
1024 .. 1024
T/G
rs2231114
+
CDS
Nonsynonymous[Met331Arg]
1024 .. 1024
T/G
rs1137110
+
CDS
Nonsynonymous[Met331Arg]
1025 .. 1025
G/-
rs45496498
+
CDS
1026 .. 1026
T/-
rs45569533
+
CDS
1027 .. 1027
G/-
rs45471796
+
CDS
1028 .. 1028
G/-
rs45523937
+
CDS
1029 .. 1029
A/-
rs45577032
+
CDS
1030 .. 1030
G/A
rs116046290
+
CDS
Nonsynonymous[Arg333Lys]
1030 .. 1030
G/-
rs45526834
+
CDS
1031 .. 1031
G/-
rs45450491
+
CDS
1032 .. 1032
A/-
rs45525639
+
CDS
1033 .. 1033
G/A
rs41550119
+
CDS
Nonsynonymous[Arg334Lys]
1034 .. 1034
G/-
rs45608736
+
CDS
1035 .. 1035
A/-
rs45467691
+
CDS
1036 .. 1036
A/-
rs45578137
+
CDS
1037 .. 1037
G/C
rs114680252
+
CDS
Nonsynonymous[Lys335Asn]
1037 .. 1037
G/C
rs1137160
+
CDS
Nonsynonymous[Lys335Asn]
1038 .. 1038
A/-
rs45444302
+
CDS
1039 .. 1039
G/-
rs45556533
+
CDS
1040 .. 1040
C/-
rs45562733
+
CDS
1041 .. 1041
T/-
rs45508194
+
CDS
1042 .. 1042
C/-
rs45610342
+
CDS
1043 .. 1043
A/-
rs45606641
+
CDS
1044 .. 1044
G/-/C
rs45480201
+
CDS
1045 .. 1045
A/T
rs41551512
+
CDS
Nonsynonymous[Asp338Val]
1045 .. 1045
A/T
rs75118792
+
CDS
Nonsynonymous[Asp338Val]
1061 .. 1061
T/C
rs112145970
+
CDS
Synonymous[Ser343Ser]
1061 .. 1061
T/C
rs1137296
+
CDS
Synonymous[Ser343Ser]
1061 .. 1061
T/C
rs75562132
-
CDS
Synonymous[Ser343Ser]
1065 .. 1065
A/T
rs112256355
+
CDS
Nonsynonymous[Thr345Ser]
1065 .. 1065
A/T
rs2231119
+
CDS
Nonsynonymous[Thr345Ser]
1065 .. 1065
A/T
rs76774052
+
CDS
Nonsynonymous[Thr345Ser]
1104 .. 1104
G/A
rs112893685
+
CDS
Nonsynonymous[Val358Met]
1104 .. 1104
G/A
rs1137631
+
CDS
Nonsynonymous[Val358Met]
1104 .. 1104
G/A
rs76411947
+
CDS
Nonsynonymous[Val358Met]
1109 .. 1109
C/T
rs112763429
+
CDS
Synonymous[Ser359Ser]
1109 .. 1109
C/T
rs2231121
+
CDS
Synonymous[Ser359Ser]
1109 .. 1109
C/T
rs76103396
+
CDS
Synonymous[Ser359Ser]
1109 .. 1109
C/T
rs14288
-
CDS
Synonymous[Ser359Ser]
1118 .. 1118
T/C
rs11539951
-
CDS
Synonymous[Ala362Ala]
1155 .. 1155
G/A
rs45502194
+
3'UTR
1164 .. 1164
G/T
rs114971412
+
3'UTR
1164 .. 1164
G/T
rs113030556
+
3'UTR
1164 .. 1164
G/T
rs1061156
+
3'UTR
1188 .. 1188
A/G
rs10853
+
3'UTR
1192 .. 1192
G/C
rs115508742
+
3'UTR
1195 .. 1195
G/A
rs45574131
+
3'UTR
1196 .. 1196
A/T
rs114782388
+
3'UTR
1196 .. 1196
A/T
rs1061235
+
3'UTR
1204 .. 1204
C/A
rs116614052
+
3'UTR
1208 .. 1208
G/C
rs114063957
+
3'UTR
1242 .. 1242
G/A/T
rs116388438
+
3'UTR
1242 .. 1242
G/C
rs112720956
+
3'UTR
1242 .. 1242
G/A/T
rs112634121
+
3'UTR
1242 .. 1242
G/T/C/A
rs13395
-
3'UTR
1251 .. 1251
T/C
rs114805442
+
3'UTR
1253 .. 1253
A/G
rs115569690
+
3'UTR
1265 .. 1265
G/A
rs114856781
+
3'UTR
1265 .. 1265
G/A
rs113042145
+
3'UTR
1271 .. 1271
A/-
rs45551538
+
3'UTR
1272 .. 1272
C/G
rs115690949
+
3'UTR
1272 .. 1272
C/G
rs112619883
+
3'UTR
1272 .. 1272
C/A/G
rs1061815
+
3'UTR
1273 .. 1273
C/T
rs41540713
+
3'UTR
1274 .. 1274
A/-
rs45459503
+
3'UTR
1275 .. 1275
C/T
rs115995593
+
3'UTR
1275 .. 1275
C/-
rs45463102
+
3'UTR
1276 .. 1276
C/-
rs45571234
+
3'UTR
1277 .. 1277
C/-
rs45600545
+
3'UTR
1278 .. 1278
C/G
rs8437
+
3'UTR
1279 .. 1279
A/-
rs45551745
+
3'UTR
1280 .. 1280
C/-
rs45531533
+
3'UTR
1281 .. 1281
C/T
rs114092443
+
3'UTR
1281 .. 1281
C/-
rs45470699
+
3'UTR
1282 .. 1282
C/-
rs45593531
+
3'UTR
1283 .. 1283
C/-
rs45494192
+
3'UTR
1284 .. 1284
C/G
rs116392944
+
3'UTR
1284 .. 1284
C/G
rs41545022
+
3'UTR
1285 .. 1285
A/-
rs45585341
+
3'UTR
1286 .. 1286
T/-
rs45538040
+
3'UTR
1287 .. 1287
G/-
rs45486995
+
3'UTR
1288 .. 1288
T/-
rs45517735
+
3'UTR
1289 .. 1289
C/-
rs45509991
+
3'UTR
1290 .. 1290
C/-
rs45504593
+
3'UTR
1291 .. 1291
A/-
rs45546931
+
3'UTR
1292 .. 1292
C/-
rs45480891
+
3'UTR
1293 .. 1293
C/-
rs45612938
+
3'UTR
1294 .. 1294
A/C
rs114915278
+
3'UTR
1294 .. 1294
A/-
rs45495992
+
3'UTR
1295 .. 1295
T/-
rs45559841
+
3'UTR
1296 .. 1296
G/-
rs45546134
+
3'UTR
1297 .. 1297
A/-
rs45621439
+
3'UTR
1298 .. 1298
C/-
rs45512094
+
3'UTR
1299 .. 1299
C/-
rs45504102
+
3'UTR
1300 .. 1300
C/-
rs45442794
+
3'UTR
1301 .. 1301
T/-
rs45585442
+
3'UTR
1302 .. 1302
C/-
rs45448192
+
3'UTR
1303 .. 1303
T/-
rs45583836
+
3'UTR
1304 .. 1304
T/-
rs45496296
+
3'UTR
1305 .. 1305
C/-
rs45599737
+
3'UTR
1306 .. 1306
C/-
rs45548333
+
3'UTR
1307 .. 1307
C/-
rs45438301
+
3'UTR
1308 .. 1308
A/-
rs45569638
+
3'UTR
1309 .. 1309
C/-
rs45491092
+
3'UTR
1310 .. 1310
G/-
rs45527239
+
3'UTR
1311 .. 1311
C/-
rs45598331
+
3'UTR
1312 .. 1312
T/-
rs45540039
+
3'UTR
1313 .. 1313
G/-
rs45442594
+
3'UTR
1314 .. 1314
A/-
rs45603140
+
3'UTR
1315 .. 1315
C/-
rs45620034
+
3'UTR
1316 .. 1316
C/-
rs45450896
+
3'UTR
1317 .. 1317
T/-
rs45604838
+
3'UTR
1318 .. 1318
G/-
rs45593834
+
3'UTR
1319 .. 1319
T/-
rs45628138
+
3'UTR
1320 .. 1320
G/-
rs45456500
+
3'UTR
1321 .. 1321
C/-
rs45476492
+
3'UTR
1322 .. 1322
T/C
rs7829
+
3'UTR
1323 .. 1323
C/-
rs45450301
+
3'UTR
1324 .. 1324
C/-
rs45493099
+
3'UTR
1325 .. 1325
C/-
rs45515092
+
3'UTR
1326 .. 1326
T/-
rs45620237
+
3'UTR
1327 .. 1327
C/-
rs45454198
+
3'UTR
1328 .. 1328
C/T
rs115913151
+
3'UTR
1328 .. 1328
C/T
rs112863520
+
3'UTR
1328 .. 1328
C/-/T
rs41562318
+
3'UTR
1329 .. 1329
C/-
rs45504101
+
3'UTR
1330 .. 1330
C/-
rs45605835
+
3'UTR
1331 .. 1331
A/-
rs45583936
+
3'UTR
1332 .. 1332
A/-
rs45487692
+
3'UTR
1333 .. 1333
T/-
rs45558336
+
3'UTR
1334 .. 1334
C/-
rs45524937
+
3'UTR
1335 .. 1335
A/-
rs45456597
+
3'UTR
1336 .. 1336
T/-
rs45623941
+
3'UTR
1337 .. 1337
C/-
rs45552544
+
3'UTR
1338 .. 1338
T/-
rs45440201
+
3'UTR
1339 .. 1339
T/-
rs45559832
+
3'UTR
1340 .. 1340
T/-
rs45543934
+
3'UTR
1341 .. 1341
C/G
rs11722
-
3'UTR
1342 .. 1342
C/-
rs45472098
+
3'UTR
1343 .. 1343
T/-
rs45462799
+
3'UTR
1344 .. 1344
G/-
rs45593340
+
3'UTR
1345 .. 1345
T/-
rs45606136
+
3'UTR
1346 .. 1346
T/-
rs45613735
+
3'UTR
1347 .. 1347
C/G
rs116212070
+
3'UTR
1347 .. 1347
C/G
rs112129747
+
3'UTR
1347 .. 1347
C/-/G
rs41561617
+
3'UTR
1347 .. 1347
C/G
rs66585529
+
3'UTR
1348 .. 1348
C/-
rs45619131
+
3'UTR
1349 .. 1349
A/-
rs45626939
+
3'UTR
1350 .. 1350
G/-
rs45618539
+
3'UTR
1351 .. 1351
A/-
rs45575141
+
3'UTR
1352 .. 1352
G/-
rs45507698
+
3'UTR
1353 .. 1353
A/-
rs45446996
+
3'UTR
1354 .. 1354
G/-
rs45575239
+
3'UTR
1355 .. 1355
G/-
rs45626339
+
3'UTR
1356 .. 1356
T/-
rs45453596
+
3'UTR
1357 .. 1357
G/-
rs45580932
+
3'UTR
1358 .. 1358
G/-
rs45536841
+
3'UTR
1359 .. 1359
G/-
rs45570937
+
3'UTR
1360 .. 1360
G/-
rs45553331
+
3'UTR
1361 .. 1361
C/-
rs45539544
+
3'UTR
1362 .. 1362
T/-
rs45451208
+
3'UTR
1363 .. 1363
G/-
rs45620633
+
3'UTR
1364 .. 1364
A/-
rs45530336
+
3'UTR
1365 .. 1365
G/-
rs45500200
+
3'UTR
1366 .. 1366
G/A
rs115223995
+
3'UTR
1366 .. 1366
G/-
rs45577333
+
3'UTR
1367 .. 1367
T/-
rs45526233
+
3'UTR
1368 .. 1368
G/-
rs45456194
+
3'UTR
1369 .. 1369
T/-
rs45537035
+
3'UTR
1370 .. 1370
C/-
rs45494596
+
3'UTR
1371 .. 1371
T/-
rs45573338
+
3'UTR
1372 .. 1372
C/-
rs45579533
+
3'UTR
1373 .. 1373
C/-
rs45535436
+
3'UTR
1374 .. 1374
A/-
rs45597634
+
3'UTR
1375 .. 1375
T/C
rs1062395
+
3'UTR
1376 .. 1376
C/-
rs45470506
+
3'UTR
1377 .. 1377
T/-
rs45465194
+
3'UTR
1378 .. 1378
C/-
rs45505694
+
3'UTR
1379 .. 1379
T/-
rs45596540
+
3'UTR
1380 .. 1380
G/-
rs45563531
+
3'UTR
1381 .. 1381
T/C
rs116198299
+
3'UTR
1381 .. 1381
T/C
rs112984071
+
3'UTR
1381 .. 1381
T/-/C
rs41554012
+
3'UTR
1381 .. 1381
T/C
rs79244404
+
3'UTR
1382 .. 1382
C/-
rs45544838
+
3'UTR
1383 .. 1383
T/-
rs45492092
+
3'UTR
1384 .. 1384
C/-
rs45544740
+
3'UTR
1385 .. 1385
A/-
rs45463497
+
3'UTR
1386 .. 1386
A/-
rs45595539
+
3'UTR
1387 .. 1387
C/-
rs45593740
+
3'UTR
1388 .. 1388
T/-
rs45553739
+
3'UTR
1389 .. 1389
T/-
rs45623335
+
3'UTR
1390 .. 1390
C/-
rs45618642
+
3'UTR
1391 .. 1391
A/-
rs45473905
+
3'UTR
1392 .. 1392
T/-
rs45500400
+
3'UTR
1393 .. 1393
G/A
rs115149068
+
3'UTR
1393 .. 1393
G/-
rs45578437
+
3'UTR
1394 .. 1394
G/-
rs45543533
+
3'UTR
1395 .. 1395
T/-
rs45603936
+
3'UTR
1396 .. 1396
G/-
rs45568640
+
3'UTR
1397 .. 1397
C/-
rs45590743
+
3'UTR
1398 .. 1398
A/-
rs45475092
+
3'UTR
1399 .. 1399
C/-
rs45611933
+
3'UTR
1400 .. 1400
T/-
rs45556243
+
3'UTR
1401 .. 1401
G/-
rs45496093
+
3'UTR
1402 .. 1402
A/-
rs45473502
+
3'UTR
1403 .. 1403
G/-
rs45465197
+
3'UTR
1404 .. 1404
C/-
rs45453194
+
3'UTR
1405 .. 1405
T/-
rs45522736
+
3'UTR
1406 .. 1406
G/-
rs45625737
+
3'UTR
1407 .. 1407
T/-/C
rs1062405
+
3'UTR
1408 .. 1408
A/-
rs45446092
+
3'UTR
1409 .. 1409
A/-
rs45465493
+
3'UTR
1410 .. 1410
C/-
rs45562932
+
3'UTR
1411 .. 1411
T/-
rs45491098
+
3'UTR
1412 .. 1412
T/-
rs45599037
+
3'UTR
1413 .. 1413
C/T
rs113502457
+
3'UTR
1413 .. 1413
C/-/T
rs41557219
+
3'UTR
1413 .. 1413
C/T
rs112525507
-
3'UTR
1414 .. 1414
T/-
rs45492200
+
3'UTR
1415 .. 1415
T/-
rs45546837
+
3'UTR
1416 .. 1416
C/-
rs45443405
+
3'UTR
1417 .. 1417
C/-
rs45603933
+
3'UTR
1418 .. 1418
T/-
rs45574633
+
3'UTR
1419 .. 1419
T/-
rs45592540
+
3'UTR
1420 .. 1420
C/-
rs45494193
+
3'UTR
1421 .. 1421
C/-
rs45626345
+
3'UTR
1422 .. 1422
C/-
rs45480592
+
3'UTR
1423 .. 1423
T/-
rs45538537
+
3'UTR
1424 .. 1424
A/G
rs117754151
+
3'UTR
1424 .. 1424
A/-
rs45536931
+
3'UTR
1425 .. 1425
T/-
rs45437101
+
3'UTR
1426 .. 1426
T/-
rs45527438
+
3'UTR
1427 .. 1427
A/-
rs45494891
+
3'UTR
1428 .. 1428
A/-
rs45520935
+
3'UTR
1429 .. 1429
A/-
rs45516198
+
3'UTR
1430 .. 1430
A/C/T
rs45485093
+
3'UTR
1440 .. 1440
T/G
rs112959815
+
3'UTR
1440 .. 1440
T/G
rs112544912
+
3'UTR
1440 .. 1440
T/G
rs113308173
+
3'UTR
1440 .. 1440
T/G
rs2499
-
3'UTR
1452 .. 1452
A/C
rs9385
+
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
;