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H-Invitational ID: HIT000217542 Accession number: U04245 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: HLA class I histocompatibility antigen, B-7 alpha chain; MHC class I antigen B*7; 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
5 .. 5 T/G rs151341075 + CDS Nonsynonymous[Leu2Arg]
5 .. 5 T/G rs9266206 - CDS Nonsynonymous[Leu2Arg]
6 .. 6 G/-/T rs151341074 + CDS
11 .. 11 T/C/G rs1050458 + CDS
14 .. 14 C/A rs41543515 + CDS Nonsynonymous[Ala5Glu]
15 .. 15 G/A rs1050459 + CDS Synonymous[Ala5Ala]
25 .. 25 G/C rs1050462 + CDS Nonsynonymous[Val9Leu]
36 .. 36 G/A rs144862331 - CDS Synonymous[Leu12Leu]
41 .. 41 C/A/G rs1131156 + CDS
44 .. 44 C/G rs1131159 + CDS Nonsynonymous[Ala15Gly]
45 .. 45 G/A rs1131161 + CDS Synonymous[Ala15Ala]
47 .. 47 C/T rs45585233 + CDS Nonsynonymous[Ala16Val]
48 .. 48 C/A rs1131163 + CDS Synonymous[Ala16Ala]
49 .. 49 C/G rs1131165 + CDS Nonsynonymous[Leu17Val]
56 .. 56 T/C rs41540116 + CDS Nonsynonymous[Leu19Pro]
72 .. 72 C/G/T rs151341076 + CDS
74 .. 74 G/- rs45496696 + CDS
77 .. 77 C/T rs151341087 + CDS Nonsynonymous[Ser26Phe]
78 .. 78 C/A/G/T rs151341088 + CDS
79 .. 79 C/T rs77882874 + CDS Nonsynonymous[His27Tyr]
81 .. 81 C/G/T rs137854636 + CDS
82 .. 82 T/G rs151341090 + CDS Nonsynonymous[Ser28Ala]
83 .. 83 C/T rs41555216 + CDS Nonsynonymous[Ser28Phe]
84 .. 84 C/T rs41562812 + CDS Synonymous[Ser28Ser]
85 .. 85 A/G/T rs137854638 + CDS
86 .. 86 T/A/C rs72558106 + CDS
89 .. 89 G/A/C rs41552318 + CDS
90 .. 90 G/A/C rs151341091 + CDS
91 .. 91 T/C rs41555918 + CDS Nonsynonymous[Tyr31His]
92 .. 92 A/G rs281864586 + CDS Nonsynonymous[Tyr31Cys]
93 .. 93 T/C/G rs41546617 + CDS
94 .. 94 T/G rs151341092 + CDS Nonsynonymous[Phe32Val]
96 .. 96 C/T rs151341093 + CDS Synonymous[Phe32Phe]
97 .. 97 T/C/G rs2596492 + CDS
98 .. 98 A/C/G/T rs77234140 + CDS
102 .. 102 C/A/T rs151341094 + CDS
103 .. 103 T/A/G rs1131170 + CDS
104 .. 104 C/T rs151341095 + CDS Nonsynonymous[Ser35Phe]
105 .. 105 C/G/T rs41559921 + CDS
106 .. 106 G/A/C rs1050486 + CDS
107 .. 107 T/A/C rs137854644 + CDS
108 .. 108 G/A/C rs151341096 + CDS
110 .. 110 C/T rs151341097 + CDS Nonsynonymous[Ser37Phe]
111 .. 111 C/T rs151341098 + CDS Synonymous[Ser37Ser]
112 .. 112 C/A/G/T rs41542423 + CDS
113 .. 113 G/A rs79051037 + CDS Nonsynonymous[Arg38Gln]
114 .. 114 G/A/T rs77592474 + CDS
115 .. 115 C/A rs151341099 + CDS Nonsynonymous[Pro39Thr]
116 .. 116 C/T rs281864587 + CDS Nonsynonymous[Pro39Leu]
117 .. 117 C/G/T rs3177891 + CDS
117 .. 117 C/- rs76032827 + CDS
118 .. 118 G/A rs151341100 + CDS Nonsynonymous[Gly40Ser]
119 .. 119 G/A/C/T rs41560213 + CDS
120 .. 120 C/T rs151341101 + CDS Synonymous[Gly40Gly]
121 .. 121 C/G/T rs137854651 + CDS
122 .. 122 G/T rs151341102 + CDS Nonsynonymous[Arg41Leu]
123 .. 123 C/T rs151341103 + CDS Synonymous[Arg41Arg]
124 .. 124 G/C rs72558107 + CDS Nonsynonymous[Gly42Arg]
126 .. 126 G/T/C/A rs3177890 - CDS
127 .. 127 G/C/T rs137854653 + CDS
130 .. 130 C/T rs45550032 + CDS Nonsynonymous[Pro44Ser]
131 .. 131 C/G/T rs41564222 + CDS
132 .. 132 C/A/T rs151341104 + CDS
133 .. 133 C/A/G/T rs45509993 + CDS
134 .. 134 G/A/C/T rs11546719 + CDS
136 .. 136 T/C rs151341105 + CDS Nonsynonymous[Phe46Leu]
138 .. 138 C/G/T rs137854656 + CDS
139 .. 139 A/G rs151341106 + CDS Nonsynonymous[Ile47Val]
140 .. 140 T/A rs281864588 + CDS Nonsynonymous[Ile47Asn]
141 .. 141 C/G/T rs1050502 + CDS
142 .. 142 T/A/C/G rs713031 + CDS
144 .. 144 A/G/C rs9266184 - CDS
145 .. 145 G/A rs41564319 + CDS Nonsynonymous[Val49Met]
146 .. 146 T/C rs41542121 + CDS Nonsynonymous[Val49Ala]
148 .. 148 G/C rs41558422 + CDS Nonsynonymous[Gly50Arg]
149 .. 149 G/A rs281864589 + CDS Nonsynonymous[Gly50Asp]
150 .. 150 C/T rs151341107 + CDS Synonymous[Gly50Gly]
151 .. 151 T/A/C rs137854659 + CDS
152 .. 152 A/T rs281864590 + CDS Nonsynonymous[Tyr51Phe]
153 .. 153 C/A/T rs151341108 + CDS
154 .. 154 G/A rs281864591 + CDS Nonsynonymous[Val52Met]
155 .. 155 T/C rs151341109 + CDS Nonsynonymous[Val52Ala]
157 .. 157 G/T rs281864592 + CDS Nonsynonymous[Asp53Tyr]
158 .. 158 A/T rs281864593 + CDS Nonsynonymous[Asp53Val]
159 .. 159 C/T rs41548616 + CDS Synonymous[Asp53Asp]
160 .. 160 G/A/T rs137854661 + CDS
161 .. 161 A/G rs9266183 - CDS Nonsynonymous[Asp54Gly]
162 .. 162 C/T rs151341110 + CDS Synonymous[Asp54Asp]
163 .. 163 A/G rs76827460 + CDS Nonsynonymous[Thr55Ala]
164 .. 164 C/A/T rs41546814 + CDS
165 .. 165 C/A/G/T rs1050517 + CDS
166 .. 166 C/T rs281864594 + CDS AA-STOP[Gln56*]
167 .. 167 A/T rs1050518 + CDS Nonsynonymous[Gln56Leu]
168 .. 168 G/A rs151341111 + CDS Synonymous[Gln56Gln]
170 .. 170 T/C rs281864595 + CDS Nonsynonymous[Phe57Ser]
171 .. 171 C/G/T rs41546213 + CDS
172 .. 172 G/A rs281864596 + CDS Nonsynonymous[Val58Met]
173 .. 173 T/G rs151341112 + CDS Nonsynonymous[Val58Gly]
175 .. 175 A/C/G rs1065378 + CDS
176 .. 176 G/A/C/T rs137854665 + CDS
177 .. 177 G/A/T rs56173567 + CDS
178 .. 178 T/C rs151341113 + CDS Nonsynonymous[Phe60Leu]
179 .. 179 T/G rs281864597 + CDS Nonsynonymous[Phe60Cys]
180 .. 180 C/G/T rs151341114 + CDS
181 .. 181 G/A/C/T rs41561613 + CDS
183 .. 183 C/T rs41544413 + CDS Synonymous[Asp61Asp]
184 .. 184 A/G rs151341115 + CDS Nonsynonymous[Ser62Gly]
185 .. 185 G/A rs151341116 + CDS Nonsynonymous[Ser62Asn]
186 .. 186 C/A/G rs41552717 + CDS
187 .. 187 G/A rs41563012 + CDS Nonsynonymous[Asp63Asn]
188 .. 188 A/G rs151341117 + CDS Nonsynonymous[Asp63Gly]
189 .. 189 C/A/T rs41556816 + CDS
190 .. 190 G/T rs151341118 + CDS Nonsynonymous[Ala64Ser]
191 .. 191 C/G/T rs41552516 + CDS
192 .. 192 C/G/T rs137854671 + CDS
193 .. 193 G/A rs1050529 + CDS Nonsynonymous[Ala65Thr]
194 .. 194 C/G/T rs151341119 + CDS
195 .. 195 G/A/T rs137854673 + CDS
197 .. 197 G/A/C/T rs41563315 + CDS
199 .. 199 C/G rs151341120 + CDS Nonsynonymous[Pro67Ala]
200 .. 200 C/A/G/T rs41562613 + CDS
201 .. 201 G/A/C/T rs41545020 + CDS
203 .. 203 G/A/C rs45512291 + CDS
204 .. 204 A/G rs151341121 + CDS Synonymous[Arg68Arg]
204 .. 204 A/-/G rs9266179 - CDS
205 .. 205 G/A rs9266178 - CDS Nonsynonymous[Glu69Lys]
205 ^ 206 -/T/C rs67385961 - CDS
206 .. 206 A/C/G/T rs41562914 + CDS
206 ^ 207 -/T/C rs9281379 - CDS
207 .. 207 G/C/T rs41541416 + CDS
208 .. 208 G/A/T rs72558108 + CDS
209 .. 209 A/C/G rs1050538 + CDS
210 .. 210 G/T rs41540514 + CDS Nonsynonymous[Glu70Asp]
211 .. 211 C/A/T rs41545612 + CDS
212 .. 212 C/A rs151341123 + CDS Nonsynonymous[Pro71Gln]
213 .. 213 G/C rs1050543 + CDS Synonymous[Pro71Pro]
213 .. 213 G/T/C rs144857500 - CDS
214 .. 214 C/G/T rs151341127 + CDS
215 .. 215 G/C rs151341130 + CDS Nonsynonymous[Arg72Pro]
216 .. 216 G/- rs151341129 + CDS
217 .. 217 G/C rs281864599 + CDS Nonsynonymous[Ala73Pro]
217 .. 217 G/- rs41541121 + CDS
218 .. 218 C/A/G/T rs151341132 + CDS
219 .. 219 G/A/C/T rs151341136 + CDS
221 .. 221 C/G/T rs151341140 + CDS
221 .. 221 C/- rs41558421 + CDS
222 .. 222 G/A/C/T rs1050556 + CDS
224 .. 224 G/A rs281864600 + CDS AA-STOP[Trp75*]
225 .. 225 G/A/C rs151341147 + CDS
225 .. 225 G/- rs151341146 + CDS
226 .. 226 A/G rs145974360 - CDS Nonsynonymous[Ile76Val]
227 .. 227 T/C/G rs151341152 + CDS
228 .. 228 A/G rs143961508 - CDS Nonsynonymous[Ile76Met]
229 .. 229 G/A rs151341156 + CDS Nonsynonymous[Glu77Lys]
230 .. 230 A/G rs281864601 + CDS Nonsynonymous[Glu77Gly]
231 .. 231 G/A/C rs151341158 + CDS
232 .. 232 C/G/T rs151341159 + CDS
233 .. 233 A/G rs151341160 + CDS Nonsynonymous[Gln78Arg]
234 .. 234 G/A rs9266175 - CDS Synonymous[Gln78Gln]
236 .. 236 A/T rs281864602 + CDS Nonsynonymous[Glu79Val]
238 .. 238 G/A rs41543716 + CDS Nonsynonymous[Gly80Arg]
239 .. 239 G/A/C rs137854676 + CDS
240 .. 240 G/A/C/T rs41551615 + CDS
241 .. 241 C/T rs151341161 + CDS Nonsynonymous[Pro81Ser]
242 .. 242 C/G/T rs41563536 + CDS
243 .. 243 G/A/C/T rs41558013 + CDS
244 .. 244 G/A/C/T rs41554421 + CDS
245 .. 245 A/C/G rs41551516 + CDS
246 .. 246 G/A/T rs1050564 + CDS
247 .. 247 T/C rs41556614 + CDS Nonsynonymous[Tyr83His]
248 .. 248 A/T rs41560117 + CDS Nonsynonymous[Tyr83Phe]
249 .. 249 T/C rs151341162 + CDS Synonymous[Tyr83Tyr]
250 .. 250 T/C/G rs72558109 + CDS
251 .. 251 G/A/C rs41549912 + CDS
252 .. 252 G/A/C rs137854679 + CDS
252 .. 252 G/- rs151341163 + CDS
253 .. 253 G/A/C rs281864603 + CDS
255 .. 255 C/A/G rs151341165 + CDS
256 .. 256 C/- rs151341164 + CDS
256 .. 256 C/T/G rs141484466 - CDS
257 .. 257 G/C rs12721803 + CDS Nonsynonymous[Arg86Pro]
257 .. 257 G/A/C rs151341171 + CDS
258 .. 258 G/- rs151341170 + CDS
259 .. 259 A/G rs1050570 + CDS Nonsynonymous[Asn87Asp]
260 .. 260 A/T rs151341175 + CDS Nonsynonymous[Asn87Ile]
260 .. 260 A/- rs151341173 + CDS
261 .. 261 C/G rs1065386 + CDS Nonsynonymous[Asn87Lys]
261 .. 261 C/A/G/T rs151341177 + CDS
262 .. 262 A/G rs151341180 + CDS Nonsynonymous[Thr88Ala]
263 .. 263 C/T rs151341182 + CDS Nonsynonymous[Thr88Ile]
264 .. 264 A/C/G rs151341183 + CDS
265 .. 265 C/A/G/T rs151341185 + CDS
266 .. 266 A/G rs1131201 + CDS Nonsynonymous[Gln89Arg]
266 .. 266 A/G rs138659308 - CDS Nonsynonymous[Gln89Arg]
267 .. 267 G/A/T rs151341189 + CDS
268 .. 268 A/C/G rs151341192 + CDS
269 .. 269 T/A/C rs1131202 + CDS
270 .. 270 C/A/G/T rs707909 + CDS
271 .. 271 T/A/C/G rs41543121 + CDS
272 .. 272 A/C/G/T rs1071816 + CDS
273 .. 273 C/G/T rs41541616 + CDS
274 .. 274 A/C rs281864605 + CDS Nonsynonymous[Lys92Gln]
275 .. 275 A/T rs41546518 + CDS Nonsynonymous[Lys92Met]
276 .. 276 G/A rs41556015 + CDS Synonymous[Lys92Lys]
277 .. 277 G/A/C rs1131204 + CDS
278 .. 278 C/G/T rs41546313 + CDS
279 .. 279 C/A/T rs41548914 + CDS
280 .. 280 C/A/G/T rs1071817 + CDS
281 .. 281 A/C/G rs1140404 + CDS
282 .. 282 G/A/C/T rs1131212 + CDS
283 .. 283 G/A/T rs1131213 + CDS
285 .. 285 A/G rs1131214 + CDS Synonymous[Ala95Ala]
286 .. 286 C/T rs151341194 + CDS AA-STOP[Gln96*]
287 .. 287 A/G/T rs41548113 + CDS
288 .. 288 G/A/C/T rs41543415 + CDS
289 .. 289 A/G rs1050393 + CDS Nonsynonymous[Thr97Ala]
290 .. 290 C/T rs151341195 + CDS Nonsynonymous[Thr97Ile]
291 .. 291 T/C rs41552314 + CDS Synonymous[Thr97Thr]
292 .. 292 G/C/T rs1131215 + CDS
293 .. 293 A/G/T rs41552212 + CDS
294 .. 294 C/G/T rs137854682 + CDS
295 .. 295 C/A/G/T rs41541213 + CDS
296 .. 296 G/A/C/T rs41540114 + CDS
299 .. 299 A/C/T rs41553715 + CDS
300 .. 300 G/A/C rs137854683 + CDS
301 .. 301 A/G/T rs1131217 + CDS
302 .. 302 G/A/C rs1050388 + CDS
304 .. 304 C/T rs41550015 + CDS Synonymous[Leu102Leu]
306 .. 306 G/A rs151341196 + CDS Synonymous[Leu102Leu]
307 .. 307 C/A/G/T rs72558110 + CDS
308 .. 308 G/A rs281864606 + CDS Nonsynonymous[Arg103Gln]
309 .. 309 G/C rs3190923 + CDS Synonymous[Arg103Arg]
311 .. 311 A/C/T rs1131223 + CDS
311 .. 311 A/- rs66473235 + CDS
312 .. 312 C/A/G rs2308559 + CDS
313 .. 313 C/T/G/A rs9266162 - CDS
314 .. 314 T/G/C rs9266161 - CDS
315 .. 315 G/A/C rs41549513 + CDS
316 .. 316 C/T rs151341197 + CDS Nonsynonymous[Arg106Cys]
317 .. 317 G/A/T rs3180379 + CDS
318 .. 318 C/G rs77604250 + CDS Synonymous[Arg106Arg]
319 .. 319 G/C/T rs3180380 + CDS
320 .. 320 G/A/C/T rs41552715 + CDS
321 .. 321 C/A/T rs151341198 + CDS
322 .. 322 T/C/G rs41540113 + CDS
323 .. 323 A/C/G/T rs78545099 + CDS
324 .. 324 C/T rs281864607 + CDS Synonymous[Tyr108Tyr]
325 .. 325 T/C rs151341199 + CDS Nonsynonymous[Tyr109His]
326 .. 326 A/G rs151341200 + CDS Nonsynonymous[Tyr109Cys]
327 .. 327 C/A/G/T rs151341201 + CDS
327 ^ 328 -/AC rs151341204 + CDS
331 .. 331 C/G/T rs151341205 + CDS
332 .. 332 A/G rs151341206 + CDS Nonsynonymous[Gln111Arg]
333 .. 333 G/A rs281864608 + CDS Synonymous[Gln111Gln]
335 .. 335 G/A rs151341207 + CDS Nonsynonymous[Ser112Asn]
336 .. 336 C/G rs151341208 + CDS Nonsynonymous[Ser112Arg]
337 .. 337 G/A/T rs41559613 + CDS
339 .. 339 G/A/C rs151341209 + CDS
340 .. 340 G/A rs75063535 + CDS Nonsynonymous[Ala114Thr]
341 .. 341 C/A/G rs41559314 + CDS
342 .. 342 C/A/T rs137854695 + CDS
343 .. 343 G/A/C/T rs137854696 + CDS
344 .. 344 G/A/C rs137854699 + CDS
345 .. 345 G/A/T rs41553414 + CDS
346 .. 346 T/A/C rs151341214 + CDS
347 .. 347 C/G rs281864612 + CDS Nonsynonymous[Ser116Cys]
348 .. 348 T/G rs281864613 + CDS Synonymous[Ser116Ser]
349 .. 349 C/T rs281864614 + CDS Nonsynonymous[His117Tyr]
350 .. 350 A/C/G rs72558111 + CDS
351 .. 351 C/A/G/T rs137854701 + CDS
352 .. 352 A/C/G/T rs137854702 + CDS
353 .. 353 C/A/G/T rs12721827 + CDS
354 .. 354 C/G/T rs1131233 + CDS
355 .. 355 C/A/G/T rs12721829 + CDS
356 .. 356 T/G rs41556312 + CDS Nonsynonymous[Leu119Arg]
357 .. 357 C/A/G/T rs1131235 + CDS
358 .. 358 C/T rs281864615 + CDS AA-STOP[Gln120*]
359 .. 359 A/G rs151341215 + CDS Nonsynonymous[Gln120Arg]
360 .. 360 G/C rs41560712 + CDS Nonsynonymous[Gln120His]
361 .. 361 A/G/T rs41556417 + CDS
362 .. 362 G/A/C/T rs1071652 + CDS
363 .. 363 C/A/G/T rs1140412 + CDS
364 .. 364 A/C/T rs151341216 + CDS
365 .. 365 T/A/C/G rs41562913 + CDS
366 .. 366 G/A/T rs41545614 + CDS
367 .. 367 T/A/C rs41547332 + CDS
368 .. 368 A/C/G/T rs151341218 + CDS
369 .. 369 C/A/T rs3179865 + CDS
372 .. 372 C/G rs151341221 + CDS Synonymous[Gly124Gly]
375 .. 375 C/A/T rs151341222 + CDS
376 .. 376 G/A/T rs151341223 + CDS
378 .. 378 C/A/G/T rs151341224 + CDS
379 .. 379 G/A/C/T rs1131112 + CDS
381 .. 381 G/C rs151341225 + CDS Synonymous[Val127Val]
382 .. 382 G/C rs151341226 + CDS Nonsynonymous[Gly128Arg]
383 .. 383 G/A/C rs75328069 + CDS
384 .. 384 G/A/T rs137854711 + CDS
385 .. 385 C/G/T rs72558112 + CDS
386 .. 386 C/A rs151341227 + CDS Nonsynonymous[Pro129Gln]
387 .. 387 G/C rs12721836 + CDS Synonymous[Pro129Pro]
388 .. 388 G/A/C/T rs61759947 + CDS
390 .. 390 C/T rs72558113 + CDS Synonymous[Asp130Asp]
391 .. 391 G/C/T rs137854713 + CDS
392 .. 392 G/A/C rs151341228 + CDS
393 .. 393 G/A/T rs281864616 + CDS
394 .. 394 C/A/T rs137854715 + CDS
395 .. 395 G/A/C/T rs41544912 + CDS
396 .. 396 C/A/T rs41548819 + CDS
397 .. 397 C/T rs41558819 + CDS Nonsynonymous[Leu133Phe]
398 .. 398 T/G rs151341229 + CDS Nonsynonymous[Leu133Arg]
399 .. 399 C/T rs151341230 + CDS Synonymous[Leu133Leu]
400 .. 400 C/A rs151341231 + CDS Nonsynonymous[Leu134Ile]
402 .. 402 C/G/T rs45532737 + CDS
403 .. 403 C/G/T rs137854719 + CDS
404 .. 404 G/A/C/T rs151341233 + CDS
405 .. 405 C/T rs151341236 + CDS Synonymous[Arg135Arg]
406 .. 406 G/A/C rs137854720 + CDS
407 .. 407 G/A rs151341237 + CDS Nonsynonymous[Gly136Glu]
408 .. 408 G/T rs41552819 + CDS Synonymous[Gly136Gly]
409 .. 409 C/T rs1050379 + CDS Nonsynonymous[His137Tyr]
410 .. 410 A/G rs151341238 + CDS Nonsynonymous[His137Arg]
411 .. 411 T/C rs1050628 + CDS Synonymous[His137His]
412 .. 412 G/A/C rs709055 + CDS
413 .. 413 A/G/T rs137854723 + CDS
414 .. 414 C/A/G/T rs41560817 + CDS
416 .. 416 A/G rs41562818 + CDS Nonsynonymous[Gln139Arg]
417 .. 417 G/T rs151341239 + CDS Nonsynonymous[Gln139His]
418 .. 418 T/G/C/A rs9266150 - CDS
419 .. 419 A/T/C rs4997052 - CDS
420 .. 420 C/A/G/T rs12697944 + CDS
421 .. 421 G/A rs281864617 + CDS Nonsynonymous[Ala141Thr]
422 .. 422 C/G rs281864618 + CDS Nonsynonymous[Ala141Gly]
423 .. 423 C/G rs151341240 + CDS Synonymous[Ala141Ala]
424 .. 424 T/C rs151341241 + CDS Nonsynonymous[Tyr142His]
425 .. 425 A/G rs41545312 + CDS Nonsynonymous[Tyr142Cys]
426 .. 426 C/A rs41553912 + CDS AA-STOP[Tyr142*]
427 .. 427 G/A/C/T rs137854727 + CDS
428 .. 428 A/G rs151341242 + CDS Nonsynonymous[Asp143Gly]
429 .. 429 C/T rs41545813 + CDS Synonymous[Asp143Asp]
430 .. 430 G/A/C rs41558112 + CDS
431 .. 431 G/A/T rs41561215 + CDS
434 .. 434 A/G rs281864619 + CDS Nonsynonymous[Lys145Arg]
435 .. 435 G/A rs1050642 + CDS Synonymous[Lys145Lys]
436 .. 436 G/A rs41561814 + CDS Nonsynonymous[Asp146Asn]
437 .. 437 A/G/T rs137854729 + CDS
441 .. 441 C/A rs281864620 + CDS AA-STOP[Tyr147*]
442 .. 442 A/G rs281864621 + CDS Nonsynonymous[Ile148Val]
444 .. 444 C/A/T rs137854730 + CDS
445 .. 445 G/A/T rs41562017 + CDS
446 .. 446 C/A/T rs72558114 + CDS
447 .. 447 C/T rs151341243 + CDS Synonymous[Ala149Ala]
448 .. 448 C/T rs151341244 + CDS Synonymous[Leu150Leu]
449 .. 449 T/A rs281864622 + CDS Nonsynonymous[Leu150Gln]
452 .. 452 A/G rs281864623 + CDS Nonsynonymous[Asn151Ser]
453 .. 453 C/A/G/T rs12721849 + CDS
454 .. 454 G/A/C/T rs41563914 + CDS
455 .. 455 A/G rs151341245 + CDS Nonsynonymous[Glu152Gly]
456 .. 456 G/A/C rs151341246 + CDS
457 .. 457 G/C/T rs137854735 + CDS
459 .. 459 C/T rs281864624 + CDS Synonymous[Asp153Asp]
459 .. 459 C/T rs17839985 + CDS Synonymous[Asp153Asp]
460 .. 460 C/G/T rs137854736 + CDS
461 .. 461 T/A/C rs41559014 + CDS
463 .. 463 C/A/T rs1050654 + CDS
464 .. 464 G/A rs281864625 + CDS Nonsynonymous[Arg155His]
465 .. 465 C/G/T rs72558115 + CDS
466 .. 466 T/C rs72558116 + CDS Nonsynonymous[Ser156Pro]
467 .. 467 C/G/T rs281864626 + CDS
468 .. 468 C/A/G/T rs137854737 + CDS
469 .. 469 T/C rs151341247 + CDS Nonsynonymous[Trp157Arg]
470 .. 470 G/A rs281864627 + CDS AA-STOP[Trp157*]
471 .. 471 G/A rs151341248 + CDS AA-STOP[Trp157*]
472 .. 472 A/T rs151341249 + CDS Nonsynonymous[Thr158Ser]
474 .. 474 C/A/G/T rs1050370 + CDS
474 .. 474 C/- rs41544018 + CDS
475 .. 475 G/A/C rs151341253 + CDS
476 .. 476 C/G/T rs151341254 + CDS
477 .. 477 C/A/G/T rs709054 + CDS
477 .. 477 C/- rs41542320 + CDS
478 .. 478 G/A rs151341255 + CDS Nonsynonymous[Ala160Thr]
479 .. 479 C/G/T rs61759948 + CDS
480 .. 480 G/A/C/T rs41560517 + CDS
481 .. 481 G/A/C/T rs41543416 + CDS
482 .. 482 A/G/T rs151341256 + CDS
483 .. 483 C/A/G rs41546015 + CDS
485 .. 485 C/A/G rs1050368 + CDS
486 .. 486 G/A/C/T rs709053 + CDS
487 .. 487 G/A/C rs151341257 + CDS
488 .. 488 C/G/T rs41556514 + CDS
489 .. 489 G/A/C rs41562716 + CDS
490 .. 490 G/A rs151341259 + CDS Nonsynonymous[Ala164Thr]
492 .. 492 T/C rs281864630 + CDS Synonymous[Ala164Ala]
493 .. 493 C/A/G/T rs151341262 + CDS
494 .. 494 A/C/G rs151341266 + CDS
495 .. 495 G/C rs151341268 + CDS Nonsynonymous[Gln165His]
496 .. 496 A/C/G rs151341269 + CDS
498 .. 498 C/T rs151341271 + CDS Synonymous[Ile166Ile]
499 .. 499 A/T rs41541519 + CDS Nonsynonymous[Thr167Ser]
499 .. 499 A/T/G rs140029568 - CDS
500 .. 500 C/T rs151341275 + CDS Nonsynonymous[Thr167Ile]
501 .. 501 C/G/T rs151341277 + CDS
501 .. 501 C/- rs151341274 + CDS
502 .. 502 C/A/T rs151341280 + CDS
502 .. 502 C/- rs151341276 + CDS
503 .. 503 A/C/G rs151341283 + CDS
504 .. 504 G/A/C rs137854747 + CDS
505 .. 505 C/A/G rs72558117 + CDS
506 .. 506 G/A/C/T rs12697943 + CDS
507 .. 507 C/T rs151341285 + CDS Synonymous[Arg169Arg]
510 .. 510 G/T rs151341286 + CDS Nonsynonymous[Lys170Asn]
511 .. 511 T/C rs151341287 + CDS Nonsynonymous[Trp171Arg]
512 .. 512 G/T rs41551018 + CDS Nonsynonymous[Trp171Leu]
513 .. 513 G/A/T rs137854751 + CDS
514 .. 514 G/A/C rs137854752 + CDS
515 .. 515 A/G rs151341288 + CDS Nonsynonymous[Glu172Gly]
516 .. 516 G/C rs151341289 + CDS Nonsynonymous[Glu172Asp]
517 .. 517 G/A rs148450964 - CDS Nonsynonymous[Ala173Thr]
518 .. 518 C/A/G rs137854755 + CDS
519 .. 519 G/C rs151341290 + CDS Synonymous[Ala173Ala]
520 .. 520 G/A rs151341291 + CDS Nonsynonymous[Ala174Thr]
522 .. 522 C/T rs281864631 + CDS Synonymous[Ala174Ala]
523 .. 523 C/A/G/T rs41540317 + CDS
524 .. 524 G/A/C/T rs41553417 + CDS
525 .. 525 T/G rs151341292 + CDS Synonymous[Arg175Arg]
526 .. 526 G/A/C rs41547815 + CDS
527 .. 527 A/-/C/T rs707912 + CDS
527 .. 527 A/C/T rs151341294 + CDS
528 .. 528 G/A/C/T rs151341297 + CDS
529 .. 529 G/A rs151341300 + CDS Nonsynonymous[Ala177Thr]
529 .. 529 G/- rs151341296 + CDS
530 .. 530 C/A/T rs151341301 + CDS
531 .. 531 G/A/C/T rs151341303 + CDS
532 .. 532 G/C rs151341306 + CDS Nonsynonymous[Glu178Gln]
532 .. 532 G/- rs41555422 + CDS
532 ^ 533 -/GCGG rs151341307 + CDS
533 .. 533 A/G rs151341308 + CDS Nonsynonymous[Glu178Gly]
535 .. 535 C/G rs3206836 + CDS Nonsynonymous[Gln179Glu]
536 .. 536 A/G rs151341309 + CDS Nonsynonymous[Gln179Arg]
537 .. 537 G/A/C rs137854759 + CDS
538 .. 538 G/T/C rs9266144 - CDS
539 .. 539 A/G/T rs697742 + CDS
540 .. 540 C/G/A rs9266141 - CDS
541 .. 541 A/G rs151341310 + CDS Nonsynonymous[Arg181Gly]
543 .. 543 A/C rs151341311 + CDS Nonsynonymous[Arg181Ser]
544 .. 544 G/A rs1050683 + CDS Nonsynonymous[Ala182Thr]
545 .. 545 C/G/T rs41542712 + CDS
546 .. 546 C/T rs41546113 + CDS Synonymous[Ala182Ala]
547 .. 547 T/C rs72558118 + CDS Nonsynonymous[Tyr183His]
548 .. 548 A/C/G rs41557117 + CDS
549 .. 549 C/A/T rs151341313 + CDS
550 .. 550 C/A/T rs75202290 + CDS
552 .. 552 G/A/C rs151341314 + CDS
553 .. 553 G/C/T rs41558016 + CDS
554 .. 554 A/C rs151341315 + CDS Nonsynonymous[Glu185Ala]
555 .. 555 G/A/C rs41557818 + CDS
556 .. 556 G/A rs151341316 + CDS Nonsynonymous[Gly186Ser]
557 .. 557 G/A rs41543920 + CDS Nonsynonymous[Gly186Asp]
558 .. 558 C/A/T rs79650563 + CDS
559 .. 559 G/A/C rs2523600 + CDS
560 .. 560 A/C/G/T rs2308466 + CDS
561 .. 561 G/C rs151341317 + CDS Nonsynonymous[Glu187Asp]
562 .. 562 T/C rs151341318 + CDS Nonsynonymous[Cys188Arg]
563 .. 563 G/A/T rs41560613 + CDS
564 .. 564 C/A/G/T rs41557820 + CDS
565 .. 565 G/A/C rs137854768 + CDS
566 .. 566 T/C/G rs41548617 + CDS
568 .. 568 G/A rs151341319 + CDS Nonsynonymous[Glu190Lys]
570 .. 570 G/A/C/T rs41551919 + CDS
571 .. 571 T/C/G rs41551517 + CDS
572 .. 572 G/C/T rs1050692 + CDS
573 .. 573 G/A rs151341320 + CDS AA-STOP[Trp191*]
574 .. 574 C/T rs151341321 + CDS Nonsynonymous[Leu192Phe]
575 .. 575 T/C/G rs151341322 + CDS
576 .. 576 C/T rs72558119 + CDS Synonymous[Leu192Leu]
577 .. 577 C/A/T rs41558514 + CDS
578 .. 578 G/A/T rs137854772 + CDS
579 .. 579 C/T rs151341323 + CDS Synonymous[Arg193Arg]
580 .. 580 A/G rs80093308 - CDS Nonsynonymous[Arg194Gly]
581 .. 581 G/A/C rs137854774 + CDS
582 .. 582 A/G rs41543418 + CDS Synonymous[Arg194Arg]
583 .. 583 T/C rs1050696 + CDS Nonsynonymous[Tyr195His]
584 .. 584 A/C rs281864634 + CDS Nonsynonymous[Tyr195Ser]
585 .. 585 C/T rs151341324 + CDS Synonymous[Tyr195Tyr]
586 .. 586 C/T rs151341325 + CDS Synonymous[Leu196Leu]
588 .. 588 G/T rs281864635 + CDS Synonymous[Leu196Leu]
589 .. 589 G/A/T rs41545114 + CDS
591 .. 591 G/A rs151341326 + CDS Synonymous[Glu197Glu]
592 .. 592 A/G rs151341327 + CDS Nonsynonymous[Asn198Asp]
593 .. 593 A/C/G/T rs61759949 + CDS
594 .. 594 C/A/G/T rs41547422 + CDS
595 .. 595 G/A/C rs151341328 + CDS
597 .. 597 G/C rs151341329 + CDS Synonymous[Gly199Gly]
599 .. 599 A/G rs151341330 + CDS Nonsynonymous[Lys200Arg]
600 .. 600 G/A rs151341331 + CDS Synonymous[Lys200Lys]
600 ^ 601 -/GA rs113893121 - CDS
601 .. 601 G/A rs148138285 - CDS Nonsynonymous[Asp201Asn]
602 .. 602 A/G rs281864636 + CDS Nonsynonymous[Asp201Gly]
603 .. 603 C/G/T rs1131275 + CDS
605 .. 605 A/C/T rs1131279 + CDS
606 .. 606 G/C rs151341333 + CDS Nonsynonymous[Lys202Asn]
607 .. 607 C/G rs151341334 + CDS Nonsynonymous[Leu203Val]
608 .. 608 T/A/G rs137854786 + CDS
610 .. 610 G/A/C/T rs1131285 + CDS
613 .. 613 C/A/G/T rs41554418 + CDS
614 .. 614 G/A rs41549412 + CDS Nonsynonymous[Arg205His]
615 .. 615 C/G rs151341335 + CDS Synonymous[Arg205Arg]
616 .. 616 G/A/T rs41562214 + CDS
617 .. 617 C/G rs281864637 + CDS Nonsynonymous[Ala206Gly]
618 .. 618 T/A/C/G rs2596493 + CDS
623 .. 623 C/A rs199875334 - CDS Nonsynonymous[Pro208His]
625 .. 625 C/G rs281864638 + CDS Nonsynonymous[Pro209Ala]
626 ^ 627 -/C rs151341341 + CDS
635 .. 635 A/G rs45610732 + CDS Nonsynonymous[His212Arg]
636 .. 636 C/T rs2257269 + CDS Synonymous[His212His]
646 .. 646 C/G rs80060802 + CDS Nonsynonymous[His216Asp]
648 .. 648 C/T rs281864639 + CDS Synonymous[His216His]
649 .. 649 C/A rs77659523 + CDS Nonsynonymous[Pro217Thr]
650 .. 650 C/T rs55965305 + CDS Nonsynonymous[Pro217Leu]
651 .. 651 C/T rs148982608 - CDS Synonymous[Pro217Pro]
652 .. 652 A/C/G rs1050341 + CDS
660 .. 660 C/A rs78135486 + CDS Nonsynonymous[Asp220Glu]
662 .. 662 A/G/T rs41541414 + CDS
667 .. 667 G/A rs61759950 + CDS Nonsynonymous[Ala223Thr]
668 .. 668 C/T rs1050723 + CDS Nonsynonymous[Ala223Val]
671 .. 671 C/G rs151341343 + CDS Nonsynonymous[Thr224Ser]
672 .. 672 C/A rs151341344 + CDS Synonymous[Thr224Thr]
673 .. 673 C/A rs151341345 + CDS Nonsynonymous[Leu225Met]
685 .. 685 G/C rs151341346 + CDS Nonsynonymous[Ala229Pro]
687 .. 687 C/T rs151341347 + CDS Synonymous[Ala229Ala]
690 .. 690 G/T rs7769258 - CDS Synonymous[Leu230Leu]
693 .. 693 T/C rs1050747 + CDS Synonymous[Gly231Gly]
699 .. 699 C/T rs151341348 + CDS Synonymous[Tyr233Tyr]
700 .. 700 C/T rs281864640 + CDS Nonsynonymous[Pro234Ser]
701 .. 701 C/T rs74428022 + CDS Nonsynonymous[Pro234Leu]
703 .. 703 G/A rs146555925 - CDS Nonsynonymous[Ala235Thr]
704 .. 704 C/A/G/T rs41553413 + CDS
705 .. 705 G/C rs61759951 + CDS Synonymous[Ala235Ala]
706 .. 706 G/T rs3211558 + CDS AA-STOP[Glu236*]
709 .. 709 A/G rs74353323 + CDS Nonsynonymous[Ile237Val]
712 .. 712 A/T rs151341349 + CDS Nonsynonymous[Thr238Ser]
715 .. 715 C/G rs151341350 + CDS Nonsynonymous[Leu239Val]
719 .. 719 C/T rs151341351 + CDS Nonsynonymous[Thr240Ile]
723 .. 723 G/C rs41553818 + CDS Nonsynonymous[Trp241Cys]
724 .. 724 C/T rs41564218 + CDS AA-STOP[Gln242*]
727 .. 727 C/T/G rs77665001 - CDS
728 .. 728 G/A rs151275072 - CDS Nonsynonymous[Arg243Gln]
735 .. 735 C/G/T rs61759952 + CDS
736 .. 736 G/A/T rs45445194 + CDS
742 .. 742 C/A rs72558120 + CDS Nonsynonymous[Gln248Lys]
751 ^ 752 -/T rs35188224 - CDS
754 .. 754 A/C/G/T rs61759953 + CDS
755 .. 755 C/T rs41557013 + CDS Nonsynonymous[Thr252Ile]
756 .. 756 T/C/G rs709052 + CDS
757 .. 757 G/A rs281864641 + CDS Nonsynonymous[Glu253Lys]
757 .. 757 G/C rs148667827 - CDS Nonsynonymous[Glu253Gln]
760 .. 760 C/T rs151341352 + CDS Nonsynonymous[Leu254Phe]
761 .. 761 T/C rs281864642 + CDS Nonsynonymous[Leu254Pro]
767 .. 767 A/G rs45571439 + CDS Nonsynonymous[Glu256Gly]
769 .. 769 A/G rs72558121 + CDS Nonsynonymous[Thr257Ala]
774 .. 774 A/G rs41541216 + CDS Synonymous[Arg258Arg]
777 .. 777 A/G rs41544412 + CDS Synonymous[Pro259Pro]
779 .. 779 C/T rs41543613 + CDS Nonsynonymous[Ala260Val]
786 .. 786 T/C rs1050823 + CDS Synonymous[Asp262Asp]
787 .. 787 A/G rs41545916 + CDS Nonsynonymous[Arg263Gly]
804 .. 804 G/A rs151341353 + CDS AA-STOP[Trp268*]
805 .. 805 G/A/C/T rs2308488 + CDS
806 .. 806 C/A rs281864643 + CDS Nonsynonymous[Ala269Glu]
806 .. 806 C/T rs185573735 - CDS Nonsynonymous[Ala269Val]
813 .. 813 G/A rs151341354 + CDS Synonymous[Val271Val]
814 .. 814 G/A rs41558116 + CDS Nonsynonymous[Val272Met]
816 .. 816 G/A rs151341355 + CDS Synonymous[Val272Val]
819 .. 819 G/A rs151341356 + CDS Synonymous[Val273Val]
821 .. 821 C/T rs41545517 + CDS Nonsynonymous[Pro274Leu]
822 .. 822 T/C rs151341357 + CDS Synonymous[Pro274Pro]
826 .. 826 G/T rs151341358 + CDS AA-STOP[Gly276*]
828 .. 828 A/G rs41558318 + CDS Synonymous[Gly276Gly]
829 .. 829 G/C rs41542113 + CDS Nonsynonymous[Glu277Gln]
831 .. 831 A/G rs151341359 + CDS Synonymous[Glu277Glu]
834 .. 834 G/A rs1065502 + CDS Synonymous[Glu278Glu]
839 .. 839 G/T rs151341360 + CDS Nonsynonymous[Arg280Ile]
846 .. 846 A/G rs41546016 + CDS Synonymous[Thr282Thr]
850 .. 850 C/T rs151341361 + CDS Nonsynonymous[His284Tyr]
852 .. 852 T/G rs41551415 + CDS Nonsynonymous[His284Gln]
853 .. 853 G/C rs281864644 + CDS Nonsynonymous[Val285Leu]
855 .. 855 A/G/T rs1050240 + CDS
858 .. 858 G/A rs151341362 + CDS Synonymous[Gln286Gln]
861 .. 861 T/C rs41551014 + CDS Synonymous[His287His]
864 .. 864 G/A rs41559614 + CDS Synonymous[Glu288Glu]
870 .. 870 G/T rs151341363 + CDS Synonymous[Leu290Leu]
872 .. 872 C/A/G/T rs1611623 + CDS
873 .. 873 G/A rs1131446 + CDS Synonymous[Pro291Pro]
874 .. 874 A/G rs41541515 + CDS Nonsynonymous[Lys292Glu]
875 .. 875 A/- rs151341365 + CDS
878 .. 878 C/A rs151341370 + CDS Nonsynonymous[Pro293His]
878 .. 878 C/- rs151341368 + CDS
879 .. 879 C/T rs151341372 + CDS Synonymous[Pro293Pro]
879 .. 879 C/- rs151341369 + CDS
880 .. 880 C/T rs41555419 + CDS Nonsynonymous[Leu294Phe]
880 .. 880 C/- rs151341371 + CDS
881 .. 881 T/G rs41560417 + CDS Nonsynonymous[Leu294Arg]
885 .. 885 C/G rs281864646 + CDS Synonymous[Thr295Thr]
885 .. 885 C/- rs151341377 + CDS
886 .. 886 C/- rs151341378 + CDS
888 .. 888 G/A rs76778601 + CDS Synonymous[Leu296Leu]
893 .. 893 G/A rs41551113 + CDS AA-STOP[Trp298*]
894 .. 894 G/- rs151341386 + CDS
895 .. 895 G/A rs2308500 + CDS Nonsynonymous[Glu299Lys]
895 .. 895 G/- rs151341387 + CDS
900 .. 900 G/A rs2074496 + CDS Synonymous[Pro300Pro]
909 .. 909 G/A rs1140487 + CDS Synonymous[Gln303Gln]
910 .. 910 T/C rs76503987 - CDS Nonsynonymous[Ser304Pro]
915 .. 915 C/T rs151341389 + CDS Synonymous[Thr305Thr]
916 .. 916 G/A rs1131500 + CDS Nonsynonymous[Val306Ile]
924 .. 924 C/T rs61744514 - CDS Synonymous[Ile308Ile]
925 .. 925 G/A rs41273028 - CDS Nonsynonymous[Val309Met]
954 .. 954 A/T rs151341390 + CDS Synonymous[Leu318Leu]
954 ^ 955 -/GTG rs151341391 + CDS
956 .. 956 C/T rs9264619 - CDS Nonsynonymous[Ala319Val]
957 .. 957 A/C rs41555514 + CDS Synonymous[Ala319Ala]
958 .. 958 G/A rs41550414 + CDS Nonsynonymous[Val320Ile]
959 .. 959 T/C rs41551114 + CDS Nonsynonymous[Val320Ala]
960 .. 960 T/C rs41540915 + CDS Synonymous[Val320Val]
963 .. 963 G/A rs41555623 + CDS Synonymous[Val321Val]
965 .. 965 T/C rs41545616 + CDS Nonsynonymous[Val322Ala]
966 .. 966 C/T rs41542717 + CDS Synonymous[Val322Val]
967 .. 967 A/G rs41562117 + CDS Nonsynonymous[Ile323Val]
969 .. 969 C/A/G/T rs2308641 + CDS
970 .. 970 G/A rs61759954 + CDS Nonsynonymous[Gly324Arg]
971 .. 971 G/T rs41548516 + CDS Nonsynonymous[Gly324Val]
972 .. 972 A/C rs41562715 + CDS Synonymous[Gly324Gly]
981 .. 981 C/G/T rs2308518 + CDS
985 .. 985 G/A/C rs1051488 + CDS
986 .. 986 C/T rs74189305 - CDS Nonsynonymous[Ala329Val]
991 .. 991 A/G rs41548215 + CDS Nonsynonymous[Met331Val]
1008 .. 1008 T/C/G rs1140546 + CDS
1011 .. 1011 A/T rs41556216 + CDS Synonymous[Ser337Ser]
1034 .. 1034 C/A rs147623692 - CDS Nonsynonymous[Ser345Tyr]
1041 .. 1041 T/C rs45592132 + CDS Synonymous[Ala347Ala]
1046 .. 1046 G/A/C rs2308655 + CDS
1049 .. 1049 G/A rs139817031 - CDS Nonsynonymous[Ser350Asn]
1065 .. 1065 C/T rs11546716 + CDS Synonymous[Gly355Gly]
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
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 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