<?xml version='1.0'?>
<pml xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:noNamespaceSchemaLocation="pml.xsd" >
<source uid="IMS-JST" id="1" db="JSNP" name="Yusuke Nakamura" laboratory="of Human Genome Center(HGC), Institute of Medical Science(IMS), The University of Tokyo and the Japan Science and Technology Agency(JST). " />
<distributor uid="IMS-JST" name="JSNP" db="JSNP" id="2" lsid="urn:lsid:ims.u-tokyo.ac.jp:JSNP:IMS-JST">
<db_xref db="JSNP" uid="IMS-JST" url="http://snp.ims.u-tokyo.ac.jp/" />
</distributor>
<panel id="3" lsid="urn:lsid:ims.u-tokyo.ac.jp:JSNP:IMS-JST" size="48" count_unit="chromosome" ethnicity="japanese" >
<annotation name="description" value="24 unrelated Japanese volunteers" />
<taxon id="100" scientific_name="Homo sapience">
<db_xref db="Unified Taxonomy Database" uid="9606" />
</taxon>
</panel>
<molecular_sample molecule="Genomic" id="4">
<polymorphism_assay id="5" />
<panel id="3" />
</molecular_sample>
<polymorphism_assay id="5" lsid="urn:lsid:ims.u-tokyo.ac.jp:JSNP:m1">
<db_xref db="JSNP" uid="m1" url="http://snp.ims.u-tokyo.ac.jp/samplesMethods.html" />
<annotation name="description" value="Direct sequencing" />
<genomic_polymorphism id="9" />
</polymorphism_assay>
<assayed_genomic_genotype id="6">
<genomic_allele id="7" sequence="A" />
<genomic_allele id="8" sequence="G" />
<polymorphism_assay id="5" />
<molecular_sample id="4" />
</assayed_genomic_genotype>
<genomic_polymorphism
flank_up="TGACCCCTCT GTGTTCACCT ACTCTGCTCT CAGCCCCACC TTGTCTCTCC AGTGCAGATC"
flank_down="GCCTGCCCTC CACCATGCGC ATGACAGTGG CTGACGGCAC TGTATACATA GCCCAGCAGA"
id="9" lsid="urn:lsid:ims.u-tokyo.ac.jp:JSNP:IMS-JST070162">
<db_xref db="JSNP" uid="IMS-JST070162" url="http://snp.ims.u-tokyo.ac.jp/cgi-bin/SnpInfo.cgi?SNP_ID=IMS-JST070162" />
<db_xref db="dbSNP" uid="ss3210078" url="http://www.ncbi.nih.gov/SNP/snp_retrieve.cgi?subsnp_id=ss3210078" />
<db_xref db="dbSNP" uid="rs2274333" url="http://www.ncbi.nih.gov/SNP/snp_ref.cgi?rs=rs2274333" />
<reference_genomic_location_in_assembly
start="8951470" end="8951470" strand="1"
chromosome_name="1">
<reference_genomic_assembly name="NCBI Build" version="35.1" />
</reference_genomic_location_in_assembly>
<reference_genomic_location
start="3554571" end="3554571" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
<genomic_allele id="7" sequence="A" />
<genomic_allele id="8" sequence="G" />
</genomic_polymorphism>
<panel id="101" lsid="urn:lsid:ims.u-tokyo.ac.jp:JSNP:JBIC" ethnicity="Japanese" count_unit="chromosome" size="1504">
<annotation name="description" value="752 unrelated Japanese volunteers" />
</panel>
<polymorphism_assay id="102" description="Amplification of samples by multiplex PCR and by Invader assay combines structure-specific cleavage enzymes and a universal fluorescent resonance energy transfer (FRET) system with the 384-well reaction card">
<db_xref db="JSNP" uid="m2" url="http://snp.ims.u-tokyo.ac.jp/JBICSamplesMethods.html" />
<molecular_sample>
<panel id="101">
<genomic_allele_population_frequency value="0.4328" >
<source db="JSNP" />
<db_xref db="JSNP" uid="IMS-JST070162" url="http://snp.ims.u-tokyo.ac.jp/cgi-bin/SnpInfo.cgi?SNP_ID=IMS-JST070162" />
<panel id="101"/>
<genomic_allele id="7"/>
<contributor name="JBIC" />
</genomic_allele_population_frequency>
<genomic_allele_population_frequency value="0.5672" >
<source db="JSNP" />
<panel id="101"/>
<genomic_allele id="8"/>
</genomic_allele_population_frequency>
</panel>
</molecular_sample>
</polymorphism_assay>
<genomic_gene_structure id="10" gene_symbol="CA6">
<exon>
<reference_genomic_location
start="3543307" end="3543391" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3546689" end="3546868" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3554563" end="3554711" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3556336" end="3556428" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3560013" end="3560082" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3565085" end="3565242" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3568293" end="3568407" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<exon>
<reference_genomic_location
start="3572048" end="3572513" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</exon>
<cds>
<reference_genomic_location
start="3543313" end="3572130" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NT_021937.17" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
</cds>
</genomic_gene_structure>
<genic_polymorphism id="11" label="point" original_residue="A" changed_residue="G">
<reference_genomic_location
start="274" end="274" strand="1">
<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NM_001215.1" field="version" />
</reference_genomic_landmark>
</reference_genomic_location>
<genomic_polymorphism id="9" />
<genomic_gene_structure id="10" gene_symbol="CA6">
<exon />
</genomic_gene_structure>
<transcription_change id="12" />
</genic_polymorphism>
<transcription_change id="12" label="truncation" codon_position="1"
original_residue="A" changed_residue="G" original_codon="AGC" changed_codon="GGC">
<genic_polymorphism id="11" />
<translation_change id="13" />
</transcription_change>
<translation_change id="13"
label="nonsynonymous" original_residue="S" changed_residue="G">
<reference_genomic_location
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<reference_genomic_landmark>
<db_xref db="RefSeq" uid="NP_001206.1" field="version" />
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<transcription_change id="12" />
</translation_change>
</pml>