2 <ExchangeSet xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
3 xmlns="http://www.ncbi.nlm.nih.gov/SNP/docsum"
4 xsi:schemaLocation="http://www.ncbi.nlm.nih.gov/SNP/docsum
5 http://www.ncbi.nlm.nih.gov/SNP/docsum/docsum_eutil_ver1.0a.xsd">
11 <Rs_organism>Homo sapiens</Rs_organism>
12 <Rs_taxId>9606</Rs_taxId>
13 <Rs_rsId>12345</Rs_rsId>
14 <Rs_snpClass value="snp"/>
15 <Rs_snpType value="notwithdrawn"/>
16 <Rs_molType value="cDNA"/>
18 <Rs_het_type value="est"/>
19 <Rs_het_value>0</Rs_het_value>
20 <Rs_het_stdError>0</Rs_het_stdError>
22 <Rs_validation></Rs_validation>
24 <Rs_create_build>52</Rs_create_build>
25 <Rs_create_date>2000-09-19 17:02</Rs_create_date>
28 <Rs_update_build>120</Rs_update_build>
29 <Rs_update_date>2004-10-04 13:37</Rs_update_date>
32 <Rs_sequence_exemplarSs>14616</Rs_sequence_exemplarSs>
34 <Rs_sequence_seq5>GGGTGGGCACTAGTTGGCGGGGTGGAAGGCACCACATTGGTCGCCTGCATGTCGTGGATGCA
35 GCGCACGGACTGTACCTGAGGGTGACGGGCCCCAAAGT</Rs_sequence_seq5>
36 <Rs_sequence_observed>C/T</Rs_sequence_observed>
38 <Rs_sequence_seq3>GCTGCTGTCCTTGTAGTCTCCCTTCTCCAGCAGGTACTGCAGCCCACGGTAGCCAGGGTACT
39 AGTAGCCAACCCACGTGCCACTCCGCACCCACACAGAT</Rs_sequence_seq3>
43 <Ss_ssId>14616</Ss_ssId>
44 <Ss_handle>CGAP-GAI</Ss_handle>
45 <Ss_batchId>607</Ss_batchId>
46 <Ss_locSnpId>59089</Ss_locSnpId>
47 <Ss_subSnpClass value="snp"/>
48 <Ss_orient value="forward"/>
49 <Ss_strand value="bottom"/>
50 <Ss_molType value="cDNA"/>
51 <Ss_buildId>52</Ss_buildId>
52 <Ss_methodClass value="computed"/>
54 <Ss_linkoutUrl>http://lpgws.nci.nih.gov:82/perl/gettrace.pl?type=7&trace=</Ss_linkoutUrl>
57 <Ss_sequence_seq5>GGGTGGGCACTAGTTGGCGGGGTGGAAGGCACCACATTGGTCGCCTGCATGTCGTGGATGCA
58 GCGCACGGACTGTACCTGAGGGTGACGGGCCCCAAAGT</Ss_sequence_seq5>
59 <Ss_sequence_observed>C/T</Ss_sequence_observed>
61 <Ss_sequence_seq3>GCTGCTGTCCTTGTAGTCTCCCTTCTCCAGCAGGTACTGCAGCCCACGGTAGCCAGGGTACT
62 AGTAGCCAACCCACGTGCCACTCCGCACCCACACAGAT</Ss_sequence_seq3>
66 <Ss_ssId>1539216</Ss_ssId>
67 <Ss_handle>LEE</Ss_handle>
68 <Ss_batchId>3129</Ss_batchId>
69 <Ss_locSnpId>750160</Ss_locSnpId>
70 <Ss_subSnpClass value="snp"/>
71 <Ss_orient value="reverse"/>
72 <Ss_strand value="top"/>
73 <Ss_molType value="cDNA"/>
74 <Ss_buildId>92</Ss_buildId>
75 <Ss_methodClass value="computed"/>
77 <Ss_linkoutUrl>http://www.bioinformatics.ucla.edu/snp/snp/snp_report.php3?db_ver
78 sion=db_april_00&allele_id=</Ss_linkoutUrl>
81 <Ss_sequence_seq5>ACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGC</Ss_sequence_seq5>
82 <Ss_sequence_observed>A/G</Ss_sequence_observed>
84 <Ss_sequence_seq3>ACTTTGGGGCCCGTCACCCTCAGGTACAGTCCGTGCGCTGCATCCACGAC</Ss_sequence_seq3>
88 <Ss_ssId>4398532</Ss_ssId>
89 <Ss_handle>LEE</Ss_handle>
90 <Ss_batchId>5288</Ss_batchId>
91 <Ss_locSnpId>ge750160</Ss_locSnpId>
92 <Ss_subSnpClass value="snp"/>
93 <Ss_orient value="reverse"/>
94 <Ss_strand value="top"/>
95 <Ss_molType value="cDNA"/>
96 <Ss_buildId>106</Ss_buildId>
97 <Ss_methodClass value="unknown"/>
98 <Ss_linkoutUrl> </Ss_linkoutUrl>
101 <Ss_sequence_seq5>ACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGC</Ss_sequence_seq5>
102 <Ss_sequence_observed>A/G</Ss_sequence_observed>
104 <Ss_sequence_seq3>ACTTTGGGGCCCGTCACCCTCAGGTACAGTCCGTGCGCTGCATCCACGAC</Ss_sequence_seq3>
108 <Ss_ssId>4426703</Ss_ssId>
109 <Ss_handle>LEE</Ss_handle>
110 <Ss_batchId>5293</Ss_batchId>
111 <Ss_locSnpId>e750160</Ss_locSnpId>
112 <Ss_subSnpClass value="snp"/>
113 <Ss_orient value="reverse"/>
114 <Ss_strand value="top"/>
115 <Ss_molType value="cDNA"/>
116 <Ss_buildId>106</Ss_buildId>
117 <Ss_methodClass value="computed"/>
118 <Ss_linkoutUrl> </Ss_linkoutUrl>
121 <Ss_sequence_seq5>ACCGTGGGCTGCAGTACCTGCTGGAGAAGGGAGACTACAAGGACAGCAGC</Ss_sequence_seq5>
122 <Ss_sequence_observed>A/G</Ss_sequence_observed>
124 <Ss_sequence_seq3>ACTTTGGGGCCCGTCACCCTCAGGTACAGTCCGTGCGCTGCATCCACGAC</Ss_sequence_seq3>
128 <Ss_ssId>16250752</Ss_ssId>
129 <Ss_handle>CGAP-GAI</Ss_handle>
130 <Ss_batchId>8532</Ss_batchId>
131 <Ss_locSnpId>1500705</Ss_locSnpId>
132 <Ss_subSnpClass value="snp"/>
133 <Ss_orient value="forward"/>
134 <Ss_strand value="bottom"/>
135 <Ss_molType value="cDNA"/>
136 <Ss_buildId>120</Ss_buildId>
137 <Ss_methodClass value="computed"/>
139 <Ss_linkoutUrl>http://lpgws.nci.nih.gov/perl/gettrace.pl?type=7&trace=</Ss_linkoutUrl>
142 <Ss_sequence_seq5>GTCGTGGATGCAGCGCACGGACTGTACCTGAGGGTGACGGGCCCCAAAGT</Ss_sequence_seq5>
143 <Ss_sequence_observed>C/T</Ss_sequence_observed>
145 <Ss_sequence_seq3>GCTGCTGTCCTTGTAGTCTCCCTTCTCCAGCAGGTACTGCAGCCCACGGT</Ss_sequence_seq3>
151 <Assembly_dbSnpBuild>125</Assembly_dbSnpBuild>
152 <Assembly_genomeBuild>34_3</Assembly_genomeBuild>
153 <Assembly_groupLabel>reference</Assembly_groupLabel>
156 <Component_componentType value="contig"/>
157 <Component_ctgId>960600311</Component_ctgId>
158 <Component_accession>NT_011520.9</Component_accession>
159 <Component_name>Hs22_11677_34</Component_name>
160 <Component_chromosome>22</Component_chromosome>
161 <Component_start>18933985</Component_start>
162 <Component_end>42112197</Component_end>
163 <Component_orientation value="fwd"/>
164 <Component_gi>29807292</Component_gi>
165 <Component_groupTerm>ref_haplotype</Component_groupTerm>
166 <Component_contigLabel>reference</Component_contigLabel>
169 <MapLoc_asnFrom>5246027</MapLoc_asnFrom>
170 <MapLoc_asnTo>5246027</MapLoc_asnTo>
171 <MapLoc_locType value="exact"/>
172 <MapLoc_alnQuality>0.913983</MapLoc_alnQuality>
173 <MapLoc_orient value="reverse"/>
174 <MapLoc_physMapStr>24180013</MapLoc_physMapStr>
175 <MapLoc_physMapInt>24180012</MapLoc_physMapInt>
176 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
177 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
179 <MapLoc_leftContigNeighborPos>5246026</MapLoc_leftContigNeighborPos>
181 <MapLoc_rightContigNeighborPos>5246028</MapLoc_rightContigNeighborPos>
182 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
183 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
184 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
188 </Assembly_component>
190 <Assembly_snpStat_mapWeight value="unique-in-contig"/>
191 <Assembly_snpStat_chromCount>1</Assembly_snpStat_chromCount>
193 <Assembly_snpStat_placedContigCount>1</Assembly_snpStat_placedContigCount>
195 <Assembly_snpStat_unplacedContigCount>0</Assembly_snpStat_unplacedContigCount>
196 <Assembly_snpStat_seqlocCount>1</Assembly_snpStat_seqlocCount>
197 <Assembly_snpStat_hapCount>1</Assembly_snpStat_hapCount>
201 <Assembly_dbSnpBuild>125</Assembly_dbSnpBuild>
202 <Assembly_genomeBuild>35_1</Assembly_genomeBuild>
203 <Assembly_groupLabel>Celera</Assembly_groupLabel>
204 <Assembly_current value="true"/>
207 <Component_componentType value="contig"/>
208 <Component_ctgId>960600397</Component_ctgId>
209 <Component_accession>NT_086921.1</Component_accession>
210 <Component_name>Hs22_86581_35</Component_name>
211 <Component_chromosome>22</Component_chromosome>
212 <Component_start>18936537</Component_start>
213 <Component_end>48069707</Component_end>
214 <Component_orientation value="fwd"/>
215 <Component_gi>51477137</Component_gi>
216 <Component_groupTerm>alt_assembly_2</Component_groupTerm>
217 <Component_contigLabel>Celera</Component_contigLabel>
220 <MapLoc_asnFrom>3888702</MapLoc_asnFrom>
221 <MapLoc_asnTo>3888702</MapLoc_asnTo>
222 <MapLoc_locType value="exact"/>
223 <MapLoc_alnQuality>0.919897</MapLoc_alnQuality>
224 <MapLoc_orient value="reverse"/>
225 <MapLoc_physMapStr>22825240</MapLoc_physMapStr>
226 <MapLoc_physMapInt>22825239</MapLoc_physMapInt>
227 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
228 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
230 <MapLoc_leftContigNeighborPos>3888701</MapLoc_leftContigNeighborPos>
232 <MapLoc_rightContigNeighborPos>3888703</MapLoc_rightContigNeighborPos>
233 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
234 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
235 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
238 <FxnSet_geneId>1415</FxnSet_geneId>
239 <FxnSet_symbol>CRYBB2</FxnSet_symbol>
240 <FxnSet_mrnaAcc>NM_000496</FxnSet_mrnaAcc>
241 <FxnSet_mrnaVer>1</FxnSet_mrnaVer>
242 <FxnSet_protAcc>NP_000487</FxnSet_protAcc>
243 <FxnSet_protVer>1</FxnSet_protVer>
244 <FxnSet_fxnClass value="intron"/>
250 </Assembly_component>
252 <Assembly_snpStat_mapWeight value="unique-in-contig"/>
253 <Assembly_snpStat_chromCount>1</Assembly_snpStat_chromCount>
255 <Assembly_snpStat_placedContigCount>1</Assembly_snpStat_placedContigCount>
257 <Assembly_snpStat_unplacedContigCount>0</Assembly_snpStat_unplacedContigCount>
258 <Assembly_snpStat_seqlocCount>1</Assembly_snpStat_seqlocCount>
259 <Assembly_snpStat_hapCount>0</Assembly_snpStat_hapCount>
263 <Assembly_dbSnpBuild>125</Assembly_dbSnpBuild>
264 <Assembly_genomeBuild>35_1</Assembly_genomeBuild>
265 <Assembly_groupLabel>reference</Assembly_groupLabel>
266 <Assembly_current value="true"/>
269 <Component_componentType value="contig"/>
270 <Component_ctgId>960600396</Component_ctgId>
271 <Component_accession>NT_011520.10</Component_accession>
272 <Component_name>Hs22_11677_35</Component_name>
273 <Component_chromosome>22</Component_chromosome>
274 <Component_start>18933985</Component_start>
275 <Component_end>42210286</Component_end>
276 <Component_orientation value="fwd"/>
277 <Component_gi>51476066</Component_gi>
278 <Component_groupTerm>ref_haplotype</Component_groupTerm>
279 <Component_contigLabel>reference</Component_contigLabel>
282 <MapLoc_asnFrom>5246027</MapLoc_asnFrom>
283 <MapLoc_asnTo>5246027</MapLoc_asnTo>
284 <MapLoc_locType value="exact"/>
285 <MapLoc_alnQuality>0.919897</MapLoc_alnQuality>
286 <MapLoc_orient value="reverse"/>
287 <MapLoc_physMapStr>24180013</MapLoc_physMapStr>
288 <MapLoc_physMapInt>24180012</MapLoc_physMapInt>
289 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
290 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
292 <MapLoc_leftContigNeighborPos>5246026</MapLoc_leftContigNeighborPos>
294 <MapLoc_rightContigNeighborPos>5246028</MapLoc_rightContigNeighborPos>
295 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
296 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
297 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
300 <FxnSet_geneId>1416</FxnSet_geneId>
301 <FxnSet_symbol>CRYBB2P1</FxnSet_symbol>
302 <FxnSet_fxnClass value="locus-region"/>
308 </Assembly_component>
310 <Assembly_snpStat_mapWeight value="unique-in-contig"/>
311 <Assembly_snpStat_chromCount>1</Assembly_snpStat_chromCount>
313 <Assembly_snpStat_placedContigCount>1</Assembly_snpStat_placedContigCount>
315 <Assembly_snpStat_unplacedContigCount>0</Assembly_snpStat_unplacedContigCount>
316 <Assembly_snpStat_seqlocCount>1</Assembly_snpStat_seqlocCount>
317 <Assembly_snpStat_hapCount>1</Assembly_snpStat_hapCount>
323 <PrimarySequence_dbSnpBuild>125</PrimarySequence_dbSnpBuild>
324 <PrimarySequence_gi>3171883</PrimarySequence_gi>
325 <PrimarySequence_source value="blastmb"/>
326 <PrimarySequence_mapLoc>
328 <MapLoc_asnFrom>24363</MapLoc_asnFrom>
329 <MapLoc_asnTo>24363</MapLoc_asnTo>
330 <MapLoc_locType value="exact"/>
331 <MapLoc_alnQuality>0.913983</MapLoc_alnQuality>
332 <MapLoc_orient value="reverse"/>
333 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
334 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
335 <MapLoc_leftContigNeighborPos>24362</MapLoc_leftContigNeighborPos>
336 <MapLoc_rightContigNeighborPos>24364</MapLoc_rightContigNeighborPos>
337 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
338 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
339 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
341 </PrimarySequence_mapLoc>
344 <PrimarySequence_dbSnpBuild>125</PrimarySequence_dbSnpBuild>
345 <PrimarySequence_gi>9863690</PrimarySequence_gi>
346 <PrimarySequence_source value="blastmb"/>
347 <PrimarySequence_mapLoc>
349 <MapLoc_asnFrom>52075</MapLoc_asnFrom>
350 <MapLoc_asnTo>52075</MapLoc_asnTo>
351 <MapLoc_locType value="exact"/>
352 <MapLoc_alnQuality>0.913983</MapLoc_alnQuality>
353 <MapLoc_orient value="forward"/>
354 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
355 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
356 <MapLoc_leftContigNeighborPos>52074</MapLoc_leftContigNeighborPos>
357 <MapLoc_rightContigNeighborPos>52076</MapLoc_rightContigNeighborPos>
358 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
359 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
360 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
362 </PrimarySequence_mapLoc>
365 <PrimarySequence_dbSnpBuild>125</PrimarySequence_dbSnpBuild>
366 <PrimarySequence_gi>51511751</PrimarySequence_gi>
367 <PrimarySequence_source value="blastmb"/>
368 <PrimarySequence_mapLoc>
370 <MapLoc_asnFrom>24180012</MapLoc_asnFrom>
371 <MapLoc_asnTo>24180012</MapLoc_asnTo>
372 <MapLoc_locType value="exact"/>
373 <MapLoc_alnQuality>0.913983</MapLoc_alnQuality>
374 <MapLoc_orient value="reverse"/>
375 <MapLoc_leftFlankNeighborPos>99</MapLoc_leftFlankNeighborPos>
376 <MapLoc_rightFlankNeighborPos>101</MapLoc_rightFlankNeighborPos>
377 <MapLoc_leftContigNeighborPos>24180011</MapLoc_leftContigNeighborPos>
379 <MapLoc_rightContigNeighborPos>24180013</MapLoc_rightContigNeighborPos>
380 <MapLoc_numberOfMismatches>3</MapLoc_numberOfMismatches>
381 <MapLoc_numberOfDeletions>0</MapLoc_numberOfDeletions>
382 <MapLoc_numberOfInsertions>1</MapLoc_numberOfInsertions>
384 </PrimarySequence_mapLoc>
386 </Rs_primarySequence>
389 <RsLinkout_resourceId>1</RsLinkout_resourceId>
390 <RsLinkout_linkValue>12345</RsLinkout_linkValue>