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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs322304          
refSNP ID: rs322304
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_002825.5:c.-1-11908A>G
NT_007933.14:g.61998509T>C
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss1570958 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs322304 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss412356KWOK|OVLP-000621-275693fwd/TA/Gagcggcagctgctttgctaacaggaaaaaaaaaaaaaaaaaaaggccatctatacaaatt06/30/0010/10/0379Genomic99 %
ss1149755KWOK|OVLP-000804-454948fwd/TA/Gagcggcagctgctttgctaacaggaaaaaaaaaaaaaaaaaaaggccatctatacaaatt09/02/0010/10/03126Genomic99 %
ss1150530KWOK|OVLP-000804-457378fwd/TA/Gagcggcagctgctttgctaacaggaaaaaaaaaaaaaaaaaaaggccatctatacaaatt09/02/0010/10/03126Genomic99 %
ss1570958KWOK|OVLP-000925-56183fwd/TA/Gcggcagctgctttgctaacaggaaaaaaaaaaaaaaaaaaaaaggccatctatacaaatt10/04/0010/10/03126Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs322304|allelePos=2003|totalLen=6473|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 CAATGAGGTG ACAGAACTAG GAAAGAATTA AGGGGAAATA AGGGACAAGA GAGACCCTCT
 CATATTGTTT TATATTATTT CATACTCAGA AAAGGAAAGA GAAGCCAAAC AAAAGGCAGG
 TAACCCAGCG CCTAGGAACC AGACCCGAAA CCAAGGAACC AGATCTGAAA CCAGGCCTGG
 GCCTGCCTga cctaagcctg gtagtaaaaa ttccacccct gacctgacct ggcaactgtt
 gttatctaca gattccagac attgtatgga aggacactgt gaaacctccc gttctgttct
 gtttcactct gaccatcggt gctcacagcc cctatcacgt accccctggc ttgctcagtc
 gatcacgacc ctctcacgtg gaccccctta gagttgttag cccttaaaag ggacagaagt
 tgagcacctg aggagctcag attttaagac gctaggctgc tgatgctccc agctgattaa
 agccactccc ttcactatct cggtgtctcc tgtccgcggc tcgtcctgct acatttcttg
 gttccctgac cggcaagcga ggtgagtaat ggacggtcca ggcagcttct taagcggctt
 tagcctgccc tgtggaacat ccctgcgggg gactccaacc agccggagcg acgcggatcc
 tgagagcgct cccgggtagg catttgcccc ggtgggatgc ctcgccagag ccgtgtgtgg
 caggcccccg tggaggatca acgcagtggc tgaacaccgg gaaggaactg gcacttggca
 cttggagtcc ggacgtctca aactcggtaa gactagtctt tggaacttgc ccactcattt
 gagtggaagc gtggcctgat cacccacttt gtgcctttat gggctctttg gtttttgttt
 ttgttttgac ttggtttgaa ttgcttgaca ggattgatct tgggaacttg cctactccat
 tcaagtggaa gcatggcctg atcacccatg gtatgcctgt atcggcactt tgttttttgt
 ttttgacttg acttagattg cttgatactt tggttttggt tttgacctgg cttggatttc
 ctgatactcc gattttggtt ttgattctgg tttggtgtaa actgtaaaag tgtgtgtgtg
 ccctttttac ccgttctttg ttttgtagtg tgcgtgtggt gtgagcgtgg tgttttgtct
 cgaggagaca cgggtcaggt acaaactaag cccaccccac taggaactat gttgaaaaat
 ttcaagaaag aatttaaggg agattacggt gttactatga taccaggaaa acttagaact
 ttgtgtgaaa tagactggcc agcatttgag gtgggttggc catcagaagg aagcctagac
 aggtcccttg tttcagaggt atggcacaag gtaacctgta agccaaggca cgcagaccag
 tttccgtaca tagacagtta cagctggttt tagaccccct tccccccaac agtagttaag
 agaacagcag cataagcggc tggcagaggc aaggaaagac cagcagagag aaagagagga
 aagagagaaa aagaggcaaa gagagaggaa aagacacaga ggaagagaca gagagacaaa
 gaaggagtca agaaaagaga gagagacaga gaaagataga ggcagaaaga gaggaagaga
 caaaggcaaa aggaaagtca gagagagaga cagaaagtca aagagagaaa gaacaagaga
 gagaaatata caagtagtta agaaaaatac aatatacctg attcctttaa aagccaaggc
 atatttaaaa cctataattg ataattaaag gtattctcag taaccctgta acactgtaat
 accactttgt tgtcagtgta aacaagggcg tatccggaaa gcactgaggc cttcctatca
 gaaaccctta acccagtaac ctgcggatgg cccagatgtg ttcaatctgt agcggcagct
 gctttgctaa caggaaaaaa aa
 R
 aaaaaaaaaa aaaggccatc tatacaaatt ctaagttaat ttagactaaa caggctctta
 ttaatagcaa agaataattg aaatcccaaa cttacaaggt tttcaacaaa agtaaaattt
 gctaaaagtt aacagtgtaa catgtattat agtaacttct aatcttgtgg ccttcatcta
 gtccacagac ataaagaaag ttcgctttaa aaaaaaaaaa acagaatggt tatcttcaaa
 aaaaaaggaa aaaaaagggg aggcagaatt tatgtaaaaa gagtgttata tggtaaattc
 ttgtcctgaa ataaattaac tggttgtttt tttaaaaaaa aatgtttgta ataagtcaga
 aagttgagca tgtggaagaa ttgtctgcga aagtcgtgga agaaaaaagt tataaaaaaa
 tttatgcaaa aaatgttgta taatttaaaa gtaataaggc ctcctgagta ctattgaaga
 aacagtttat gtgcaaggtg tataaggaaa gttaaatata cctttggtaa aaggactata
 aggaggcata agaatgtgga tttttaccta cattaaaaag ttaaaaaaaa tcattgtttt
 gaaagtttaa gcaagtttta aaacgttaat tgtaaagaaa attctgtgtg taaacatatt
 agctaaactt aaaaaagtat catccagttt ttctgtgaaa tggacattaa agtaaaaatg
 caacaggttt ttcttaaagc accaatctcc tctttaacaa aaattataaa aggttaaaaa
 gagtctataa aatcttactt atgatcaaac attaaaaatt agataaatat gtctacaagg
 ttttattaaa attaagttta acattaataa cacactaata taaaagtaaa atttagctta
 tctagtgtaa aaatcataca aaaagcattg ttaaatgtaa aatggtattt ggctttcttt
 ggtctaaaaa ctaataaaaa taggtgctaa aggaaacatt cattttacaa gaagatcata
 aaagttaaaa acttaaaaca aactttggca attaagatag cataccaaga tgcaaatgcc
 tggttggaat ggatcaaata ttccatctgc acgttaaaca aaagcaattg ttatgcttgt
 gcacatggca ggccagaggc cctgattgtc tcccttccac taagatggtc ctccagtcgg
 ccaggcgtgg gctgcatggt agctgttttc caggattcta cagcctggat taataagtca
 tgccaggctc tctctgctat atcccaaagt ctggtaccct gcgggtcagc ccctgagggc
 catccagcct ccgtctccca acactaagtt cacttcgttg tctctcacga cagggaggaa
 acttagcatt ccttggagac ctgaagggat gcgatgagct taagaatttt caagagctta
 tcaatcagtc agccattgtt catccgcaag cagatgtgtg gtggtattgt ggtggacctt
 tactgggcac tctgccgaat aactggagtg gcacttatac tttagtccaa ttggctatcc
 ctttcaccct ggcatttcat caaccagaag gaaaaaaaat aagacattgt aaagtgagag
 aagcccctta taggtctttc gactctcctg tccatttaga cgcagttgga gtcccacgag
 gaatacagat caatttaaag cttgaaatca aatagctaca ggatttaatt caatatttta
 gtaggtgaca gttaataaaa atataaatta gataaactac atctattaca accaacagca
 gcaagctttt catgagttaa aagaaaaact caggtcggcc ccagccctgg ggccacctga
 cctgacaaaa ctttttacac tctatgtgtc aaaaaaaaaa aaaaaaaaat ggcagttgga
 gttttaaccc agactgtaag gtcctggcca aggccagtgg cctatctctc aaaacactag
 aaggggtttc caaaggctgg cccccatgtc taaggtccct ggcagcaatg accctgttag
 cacaagaagc agataagcta actcttaggc aaaacctaaa gtccccccat gctgtggtaa
 ctttaataaa taccaaagga catcattagc taatgaatgc tagactgact agataccaaa
 gcttgctctg tgaaaatccc tgcataaccg tcgaagtttg caacacccta aacccagcca
 ccttactcct ggtatcagag agcccagttg aacataactg tgtagagtta ttggactcag
 tttattctag tgggtccaac ctccaagacc atccttaaac atcagtagac tgggagctgt
 acgtggatgg gagcagcttc gccaacccct gcaaagtgat tctgaagaag acgacaagcg
 ctgctccagt cacacccgga agctgactgg tccactcatg gccgaagcat gaggaaactc
 atcgcgggac tcattttcct taaaatttgg acttgcacag taaggacttc aactgacctt
 cctcagactg aggactgttc ccagtatata catcaagtca ctgaggtagg ataaaagatt
 gctacagtcc tattacttta tggttattat aagtgtaccg ggactctaaa agaaacttgt
 ttgcataatg ctattctatc caaggtatgt agcgcagtct ctaaatgtta tgtttgtgga
 ggaactgtaa caggagatca atggccataa gaagcctgag aattagagcc tacagaccca
 gttcctgatg aattcccagc cctaaagaat caccctgatc atttctaggt tctaaaagtt
 tcaaatattg gacaatattg caaagctaga aaaaggaaag aattcactca ttctgtagga
 tgacttagtt gcttaggaca aaaactgtgt aatagtacca caaaaacagt tacgtggtgg
 agttcaaaac acacagataa aaatccattc agtagatttc caaagttgca gaccatttaa
 gcccacccag aatcccaccg ggactggacg gcccccacta ggctatactg ggtatgtgga
 catagaacct acgctaagct gcctgaccag tggtcaggta gttgtattat tggcactatt
 aaaccatctt tcttcctact acccataaaa agaggcaaac tcctgggctt ccctgtctat
 gcttcctgca aaaagaaaag catagctata aaaaaattca aaaataatga atagccccct
 aagcaaatca tacaatatta taggcctggt acttaggcac aagacagctc atggggatac
 cagaccccca tttacatgct caactgaatc atatggttgc aggctgttct agaaatcatc
 actaataaaa cctgtcaagc cttgactatt ctggcccggc aagaaactca gataagaaat
 gctatctatc aaaatagatt ggctctcgac tacttgctag cagctgaaag agaggtctat
 aagaaattta accttactag ttactgtcta cacatagata atcaaaggca agtagttaaa
 gacatagtta aaaatatgac aaaactggca catgtgcctg tacaagtgta acatggattc
 gaccctgaag ccatgtttag aaggtggttc ccagcactaa gaaaatttaa aactcttata
 ataagagtta taatagtaat aggaacctgc ttactgctcc cttgtttgct acctgtactt
 cttcaaatga taaaaagctt catcactacc ttgattcacc aaaatgcttc agcacaagtg
 tactatatga atcactatca atctattgca caagaagatg taagtagcaa aaataagagt
 gagaactcca actaataaaa agtgagagtc tcgaaggggg gaaaTGAGGG ACGAGAGAGA
 CCCTCTCATG TTGTTTTATA CTCAGAAAAG GAAAGAGAAG AGAAACAAAA GGCAGGTAGC
 CCAGCACCTA GGAACCAGAC CTGAAACCAA GGAACCAGAT CTGAAACCAG GCCTGGGCCT
 GCCTgaccta agcctggtag taaaaattcc acccctgacc tagcaactgt tgttatctat
 agattccaga cattgtatgg aaggaccttg tgaaacctcc cgttctattc tgtttcactc
 tgtccatcgg tgctcacagc cccgtcacat accccctggc ttgctcaatc aatcacgacc
 ctctcatgtg gaccccctta gggttgttag cccttaaaag ggacagaagt tgagcacctg
 aggagctcgg attttaagac gctaggctgc tgatgctccc agctgattaa agccactccc
 ttcactatct cggtgtctga ggggttttgt ctgtggctca tcctgctaca CAGTAACCTA
 CTGTTTCAAA ATGAGTTAGA AAACACTAAG AAAACAATAT AAAATGTAAA AGAGCATCAC
 AAATTATAAT TAGAAAACTC AGCAATGAGG

  GeneView back to top
GeneView via analysis of contig annotation: PTN pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1)
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_007933->NM_002825
svfunction
HuRefNW_001839072->NM_002825
svfunction
CeleraNW_923640->NM_002825
svfunction
CRA_TCAGchr7v2NT_079596->NM_002825
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007933->NM_002825->NP_00281661998509reverseintron
HuRefNW_001839072->NM_002825->NP_0028165602229reverseintron
CeleraNW_923640->NM_002825->NP_00281634449297:34449298reverseintron
CRA_TCAGchr7v2NT_079596->NM_002825->NP_00281636331230:36331231reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs322304 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839072.15602229..5602229131256842..131256842minusCalt_assembly_8HuRefHuRefview2000..2002
7NW_923640.134449297^34449298131690546^131690547minus-alt_assembly_1CeleraCeleraview2002..2002
7NT_079596.236331230^36331231136295662^136295663minus-alt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view2002..2003
7NT_007933.1461998509136602169minusTref_assemblyreferencereferenceview2002

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC011036.3 AC018728.3 AC018728.5 AC073470.2
dbSNP Blast Analysis
GenBank HTGS Finished:
AC018728.6 NC_000007.12

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
HWPA
ss1570958HapMap-CEUEuropean 118IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
27021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
withHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .