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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs560085          
refSNP ID: rs560085
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_003419.3:c.-46-6718C>A
NT_011109.15:g.9629187C>A
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 ss1811521 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs560085 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
ss731188SC_JCM|AC008375.6_41139fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagttttttatta07/27/0010/10/0383Genomicunknown
ss1118786KWOK|OVLP-000804-300467fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagttttttatta09/02/0010/10/0386Genomic99 %
ss1120235KWOK|OVLP-000804-309230fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagctttttatta09/02/0010/10/0386Genomic99 %
ss1811521KWOK|OVLP-000925-730068fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagttttttatta10/05/0010/10/0387Genomic99 %
ss1811783KWOK|OVLP-000925-731295fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagctttttatta10/05/0010/10/0394Genomic99 %
ss1812318KWOK|OVLP-000925-736268fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagttttttatta10/05/0010/10/0387Genomic99 %
ss1812761KWOK|OVLP-000925-738562fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagctttttatta10/05/0010/10/0394Genomic99 %
ss40974969ABI|hCV602028fwd/TA/Ctcccaaagtgctgggattacagacttgagcactgcacccagcccatttagttttttatta07/17/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs560085|allelePos=3621|totalLen=6853|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 ATTTTTTGCC AACTTTGTAT AACTCCCTAA AGAATATTAT ACAGCTTTGC CTGCTTTTAA
 ACTAATGTAA ATTGAATAAT AATATATGTG TTCTTTTAAG ttttgttttg ttttgtcttt
 tttgagacag tctcactctg ttgcccacgc tagagtgtaa tggcataatc tcgtctcact
 gcaacctcca cctcccgatt caagtgattc tcctgcctca gcctcccaag tagctgggat
 tacaggcgtg caccaccaag cctagctaat tttttgtatt ttttagtaga gacggggttt
 cactgtgttg gccaggctgg tctcaaactc ctgacctcaa gcgatccact tgcctcggcc
 ttccaaagtg ctagtattac aggcgtgagc cgccgcacct ggccCATGTT GAATAGTTTA
 GATATATCTT GTTTATCTCC ACTATTATTT AATAACCTTT ATGACTATAT CACAGTGTAT
 TTTGTCCAAC ATATTTTTTA TGTGGATAAT TGGTGGTTTC CAGCATTTTA CTCTTAATAA
 AACTGTTATG AACATTGTAG TGGATGTTTt acctaggagt ggaattgctg ggtaataggg
 aatgtgcatg tgttagccta gataaccaaa ctctttcaaa gtggttgtat gaaaaagtgg
 tctacttcca acagtgtata tttgccgccg cctttgccac gtttttccca catctttacc
 aacatttgga atagtcacac tttttaccta cctagtatac ttagtaatat ctaattatgg
 tgttaatttg tatgaccatg actactgatg aaacagaaca tcttttcatt tgtattatct
 tttatctcct ttTCTCATTT TTTCCCCAAG ATTTGTTCTt ttaggcaaaa ttcacatgag
 atacacttaa ccattttaaa gtgtataatt cagtggtatt tagtataaat tcagtggtat
 ttgctgtatt cacaatattg tgcaactatt gattctctct agttttaaac ctttttcatc
 tgcctctaga aataccctgt acccaattga agcaCaaact tttaacttgg atgaatttaa
 attgatgtat tcttttcttt cattgcttgt gctttaggtg ttaaatttaa gaattaattg
 ccaaatctga ggtcatgaag aattagaaat tctgtttttt tgaaagaatt ttatgattta
 gcacttctgt ttaggttgtt gatccatctt gagctcacat tttatatttg catgtgttta
 tccagttgtc ccaataccat ttgttgaaga gacatttctt tctccattca gtggacttac
 tatccttctg ggaaatctat tagtcataga tgtttgggtt tatttctgga ttttcagttt
 tattccatta gtttacaagt ctgttcttag gccagtccta ttgattactg tagctttgta
 gtagtaagtt ttacaattgt aagaagagag tcctaccttt tcattttcaa tacacattgc
 agttccatat ggattttggg taccaattgc agttccatat ggatatgagg agtggctttt
 tttttttttt ttttgagtca gagtcttgct gtgtcgccca ggctagagtg cagtggtgaa
 atctctgctc actgcaacct ctgcttcctg cgttccaaaa attctcctgc ctcaggctcc
 cgagtagctg ggattacagg tgcgtgccac cacgcccagc taattttttt tacttttagt
 agagacaggg ttttaccaca ttggccaagc tagtctcaaa ctcctgacct tgtgatccac
 ccgccttggc ctcccaaagt gctgggatta caggcgtgag ccaccgcgcc cggccttgag
 ttcacatttt atatttgcat gtgtttatcc agttgtctca ataccatttt ttgaagagac
 atttctttct ccattcagtg gacttaactg gccttctggg aaatctatta gtcatagatg
 tttgggttta tttctggatt ttcagtttta ttccattagt ttacaaggct gttcttaggc
 cagtcctttt gattactgta gctttataat agtaagtttt acaattggaa gaagtgagtc
 ctactttttc attttcaata cacattacag ttccatatga ttttgggtac ccattgcagt
 tccacatgga tatgaggagt ggcttttttt ttttttttga gatggagtct tgctctgttg
 cccaggctgg agtgcagtgg tggagctcgg ctcactgcaa cctccgcttc ctgggttcta
 acaattctcc tgcctcaggc tcccgagtag ctgggattac aggtgcgtgc caccacgccc
 agctaatttt tttactttta gtagagacag ggtttcacca tgttggccaa gctagtctca
 aactcctgac ctcgtgatcc acccgcctca gcctcccaaa ctgctgggat taccgccccg
 cctggctttt catttcaaag gccactgaag tgttaataga gattgtattg aatctgcaga
 ttattttagc gagtattgcc atcttcatgt taaggcttct aatccatgaa catgggattt
 taatctattt aATCTccaac tgatgtactg caattcagtt ctggtactag ctgcccagag
 ttagtgtcag actccatagg ttttagcata cagtccccag taaatctgcc cttactttag
 gccaactagc tacaattcca ggaagttccc atgactccct ccccctcccc ccttcattta
 gtaatttact acaactcaca gaattcagga aagcactaca cttaaaatta tagttttatt
 atgaaagata aggatacaaa ttaggaacag cacagtaaag agacacatag agcaaggtct
 gaaagggacc tatacacagt ttctatgccc tttcctggtg aaagcagggt gtgtcaccct
 ccaaacacat tgatatgttc accagtaagg aagccccact gaactttggg gtggaatttc
 attatgtagg catgattgat taatcattgg ccacatgact gaactcagtc tccagcccca
 ctttcttcct cagagactgg ctagctaaaa gtatttttga tgactgcccc aattctgaag
 ctactcgggt ccaccatgag ttacctcatt agcataaact caggtgtgat ccatagcaaa
 gacatgtcta gctctgtgct aggaacccta ggacaaagac ctgacaaatt attacacaGG
 GCATAAACAA GACCAGGAGT GAATATGGCA GTGTTTTCTT ATTTATTTAG TGGTTTCTTT
 TCTCTTGGAT CATTTAGCtt tttttttttt tttgagactg agtcttgctc tgtcgccccg
 gctggaatgc agtagcgtga tctcggctca ctgcaagctc tacctcctgg gttcaagcag
 ttctcctgcc tcagcatccc aagtagctgg gattacaggc acatgccacc acgcctggtg
 tgccaccatg cctgactaac tgttttgtat ttttaataga gacagggttt caccatgtgg
 gccaggctgg tttcgaactc ctgacctcaa gtgagccgcc caccttggcc tcccaaagtg
 ctgggattac agacttgagc
 M
 actgcaccca gccCatttag ttttttatta atgatttgag aaagatctta tattttacct
 gctagttctt tgacagttaa atgttttgta aatatcatca cccattctgt ggcttgcgtc
 tttttaACAG ATTTTATTCA TAAGTGAGCT GTGAATCACG CTTATATTTT TACGCAACTT
 TGTTTTCCAT TTAATTACTA TTACCTTTTT GTCCATATAT TTATCACTAA TTTATATTCA
 AAATCTACTG GAAAATAAAT CTTTTTCCAG TATGTTCTGT CAGTTTCTTG GTTAAGAGAC
 ATCTCTTCTA GGATCCTTTT TTTCTCTACT GACTGCTTGT ACCACTATTA CTCTAGAATT
 CTATCTTTTT AAATTCACTG CCCTTCTGCG TTGAGTTCTT TGTTTCTTGG ATTCCTTGCC
 TTCCTGTTTC TTGGTTTGGT TCTTCTTGAT ATTGGTGGCA TGTGAGAAAG GATGAATGAG
 AATTAAATTT TGTGAGTTCT GGTATATTTT TCAACcacta tattgattct ttggcagggc
 atggaattct acattaaaaa tatttttcct cagaatttta aaattatgat ctctgtctta
 tagtattgtt tagaactcca aagccatttt cattcctggt ctttggttta taccctgtct
 ttgcatattg gagcctttta gggtattttc tttgttccca gtgtcctaga acctaataaa
 aatatatgta aatgtaaatc atcttttttt TATACTACAT ACCAAGTGGA CCCATTAAAT
 ATGGAGACTC ATTTCTTTCA GGTCTGGGAA GTTGCCCTTA ATGCTACTTT TTAGAACAAT
 CTGTATTTTC TGTTTTCTTT GAAAAATTTC AAACATAGAG AAAAAAAGAT TATTCCAGTG
 AATTCTGAAT ACCCATTTtc ttcctctgtt tgggccactg taacaaagta ccataaacta
 gttatcttat aaacaaaaga aacttatttc tcacagttgt ggaggctgga aagtacatga
 tcaagatgtt ggcagattca gtgtctggta aggacctgct ttctgcttca tagttggcac
 cttctctctt tgtcctcaca tagtaaaaag ggaaaggcag tcctctgggt actctttttt
 aaggacatta attacattca tgagggctct gccctcatga cctaatcacc tcccaaaggc
 cccacctcct taccccatta cattgataac taaagttcaa catttcattt gggggttggg
 aggacacaaa cattcagact ctatcaTCCA TCACCCAAAT TCTTCAGTTG TTGCCATTTT
 GCCACATTTC CTTTATCTTT ATTAATACAC ACACATACAC TTTTTTTTGT GAGTCATTTG
 AAAATATGTT GGGGACATCT TCACATTTTA CCATTAATAA TTTTAACATA TATCTCCTTA
 GTATTAATGA TATATCTCCA ACCTAAGGAA ATTAAAATAG ACTTAATAAT ATTCTTAAGC
 ATTTTATATT TAGACAGCTC CAGTAGTCTT CAAGCTCTCT TTATTTAGCT GCTATTGTGT
 TTGTTTGTTT GTTTTACTTG GGTATGTGtt tgcctgatct aggatccagt caagatttat
 atattgattt ggtcattgga tctctttagt ctcttttaat ctggagcagt ctctcatttt
 ttgttttata tgactttgaA tttttttggt ttttttgaga tggagtttca ctcttgttgc
 ccaggctgga gtgcaatggt acgatcttgt cttaccacaa cctccgcctc ctgggtacaa
 gcgattctcc tgcctcagcc tccctagtag ctgggattac aggcatgtgc cactgcaccc
 ggctaatttt gtatttttag tagagacggg gtttctccat gttggtcagg ctggtctcaa
 attcccgacc tcaggtgatc tgcccaactt ggcctcccaa agtgctggga ttacaggcat
 gagtcaccat gcccggccCt gttttatatg acattgaatt tttttgagaa tccaggacaa
 ttattttata gaatgtcaca taacctttat ttgtctcatg gctttctcat gtataggaag
 cttagattca ggttaaatat atttggcaag cataccacat aggtggtatg atggtacatc
 ttttattgta ttacattggg aggaacatat tgtcaggttg ctctactact gttgatgcca
 aGTGCTgtat ggatgtttgt cccctccgaa tcttatgttg aaattttccc cccattgttg
 gaggtggggc ctaatggcag gtgtttcagt tatggggatg gatccctgat gaacagatta
 atgccctccc tggggggcag tgggtgagtg agttcttgct cttattactt cccaaaagag
 ctggttgtta aaaagaacct agcacctctc tcgaccctct cttttgcttc ctctctctcc
 acataatctc tgcacatccc agctcctctt caccttctgc tagtggaagc agcctgaaac
 cttcatcaga agaagctgtt ggtgccatgc atcttgtaca gcctgcagaa ctgtgagcca
 aataaacctc ttttctttat aagttaccca ctcttagata tgtcttcata gcaacacaag
 tagactaaGG CATCaagttt taccacttaa gattaaggtg gtgagtacca aatctttcta
 ttaaacaggt atatattttt ccctttataa ttaataaata atctgtagag tgatactgtg
 agatcaagtg aatatccttt tccgcagcac aattcattat ccagctttag aatccattga
 ggatcctgaa tcttttatcc tattgacgat ttttaaatgg tgattttcag gttcctccgt
 ttcttctaGC ACACTTTGTA GATTCTTAGC AAACTTCTAA AAATGATTTC TTCTCAGTAG
 ACGTTGGACT TTGTTGCTTG ATCTCCCATA TTTTCCTATT TTCCATTTCT GTATCTTTTT
 TGTATGGGTT TTAAAGATAT TTTATTATTT ACTTTTGAAT GATTTGTTTT TATTCCAACT
 TTATATTTTC ATTTTCTATG AATACTTTTT TCACTTAATA TTTCTTTCAT ATTATTCTAT
 TCTTGTATCA TGTGGAGTAG CTTCTCATAT CCTTATGAGA ATATACGTTG TGACTTTTGA
 GGTTTTCTTT GTTCTCCTAT ATAGTCTGTC TTCTGAGTTG CTTTGGTTGC TT

  GeneView back to top
GeneView via analysis of contig annotation: ZNF345 zinc finger protein 345
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_011109->NM_003419
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011109->NM_003419->NP_0034109629187forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs560085 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
19NW_001838495.240346833830059minusGalt_assembly_8HuRefHuRefview3620
19NW_927206.1971683234145264plusCalt_assembly_1CeleraCeleraview3620
19NT_011109.15962918742052809plusCref_assemblyreferencereferenceview3620

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC008733.6 AC017110 AC017110.4 AC073640.1
dbSNP Blast Analysis

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .