<?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 
		start="90" end="90" strand="1">
			<reference_genomic_landmark>
				<db_xref db="RefSeq" uid="NP_001206.1" field="version" />
			</reference_genomic_landmark>
		</reference_genomic_location>
		<transcription_change id="12" />
	</translation_change>
</pml>