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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1006343          
refSNP ID: rs1006343
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
Links , Linkout

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 ss1468230 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1006343 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
ss1468230TSC-CSHL|TSC0083359byFreqfwd/TA/Gtggcctcccagaagaccccacgtccccctcgagtctacacccgctgtgaccataacaccc09/07/0004/07/0486Genomic95 %
ss5732833SC_JCM|NT_035558.1_30639fwd/TA/Gtggcctcccagaagaccccacgtccccctcgagtctacacccgctgtgaccataacaccc01/10/0310/10/03111Genomicunknown
ss44174802ABI|hCV9612154fwd/TA/Gtggcctcccagaagaccccacgtccccctcgagtctacacccgctgtgaccataacaccc07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1006343|allelePos=1678|totalLen=2136|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 GTTCCACGCT GCGCCGTGTG GAGGCCAAGG GCCGCCCCTG AACCGCCCCT CCCACAGCGC
 TGGCCGGGAC CCCGAGCCTG GCTCCAAACC CTCGAGGCGG ATCTTTGGAC AGAAGCAGCT
 CTTCCCCGAA CACTGTGGCG TCCGGGACGG CCCCACCCGT CCCCCCACAC TCCCTCCCAC
 GGGGCTCCGG GAGACAGGCC GGCCCTGCAC CTCACCCCAC CGTGACCTCA ATAAACGTTG
 AAACTCCCCC TGGCTCCTGT CTGTCCTTCC CATATAGGGA GGGGAGGGGG AACTGCCCAC
 CGTGACCTCA ATAAACGTTG AAACTCCCCC TGGCTCCTGT CTGTCCTTCC CATATAGGGA
 GGGAACCAGG GAGAGGTCCC CTGGGTTCAA GTCCCCGAGC CCCAAACTCA GGATGGGGGG
 AGTCGGAGCG GGGGATGGGG GCCCAGGTTG CAGGGGGTCT CTCTCCTGGA TGCTCGTGGC
 TGtgggttct aacccggccc catcagggtg gccctgggca ggttgttatt catctccgtg
 cctcagtttc ctcatctgga aaatggACTC GCCCCAGACG TTTCCTAGAA CTGTCCCTGC
 TGGCTCAGGG ACTCCTTGAG GAAGGGGATG GGGATGGGGA AGCAGCCTGG GGGGCTTCCT
 GGAGGAGGTG GCAGTGCCAG AGCTGCATAT CAAGGTGTGA ACAGAAACAT CCGAAGGGCT
 GCCAGGCAGG GGGCACAGTC CAGGCAGAGA CCTGAGGGCT AGAGGCCAGG GGACGGGGAG
 GAGGGCAGGC AGGGGAGGGA TGTGGGTGCA GGGGAGGGGT AATGGGGTTG GAGCGCTATT
 TCTCGTAGGA GGGGTAGGCA GGGCAGGAGT TCCCTGGTAG AAGCATGAGC AATGAACTGG
 GTGGGGGGGT GGCCAGAGGG GAGGTCCGAG GCGGGGAAGA GGTGGGACTC ACAGTCCAGC
 TCAAAGACGG GCAAGTGGCC ACTAGAAGGA GGCATTAGCC ACAGAGAGGG GACGACCTGC
 TCCAGGACAC GTGTAGAGAA GAAATGAAGC TCATTGCTGG TGtttttttt ttctttttaa
 tatttttttg agacagagtc tcgctctgtc acccaggctg gagtgcagtg gtgtgatctc
 ggctcactgc aagctccgcc acccgggttg aagcgattct cctgcctcag cctccggagt
 agctgggact acaggcacag accaccacgc ccagttaatt tttatatttt tagtacagac
 agggtttcac cacgttgtcc aggctggtct cgaactcctg acctcaggtg gtccacccgc
 ctcagcttcc caaagtgctg ggtttacagg cgtgagccTA CTTACTTATT TACAGCTGGC
 CTACTTAttt atttttgaga cagggtctca ctctgtcgcc cagtctgtag tgcagtggtg
 caatcttggc ttaccgcagc ctcaacctcc tgggctcaag tgatcctccc acctcagcct
 cccgagtagc tgggactaca ggtgccacca cacccagcta ttttcttagt ttttgtagag
 acggggtctg gctgtgttgc ccaggtgggt cCTCAGTGAC TCTTTACATA TGAACACCTC
 CAGGTCACTG TAATCTTAGC AATCTCCTGG CCTCCCAGAA GACCCCACGT CCCCCTC
 R
 GAGTCTACAC CCGCTGTGAC CATAACACCC CTACCTTCCC TGCCACAGTT AATGGTGAAC
 CAGCTCTCAA AGCAACACTT TCtttttttt tttttttttt tttttttttt tgagacggag
 tctcgctctg tcgcccaggc tggagtgcag tggcatgatc tcggctcact gcaacctccg
 cctcctaggt tcaagcaatt ctcctgcctc agtctcccga gtagccggga ttacaggcag
 gtaccaccac gccaggctaa ttttgtattt ttggtagaga cggggtttgt ccatgttggt
 caggctggaa ttcccaacct caggtgatac acccgcctca gcctcccaaa gtgttgggat
 tacaggcctg agccaccgcg cccggccAGA CAACACTTTC TTAGCTAAGA ACTTTATGAA
 CGTGAATTTA TTTCATCCTC TTGACAGGTT TATGTGAT

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1006343 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_001838476.1607668618469plusGalt_assembly_8HuRefHuRefview1677
19NW_927173.133481774757plusGalt_assembly_1CeleraCeleraview1677
19NT_011255.14789606800606plusGref_assemblyreferencereferenceview1677

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035558.1
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004799.2 AC112706.2 NC_000019.8

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceHWPA
G
ss1468230TSC_42_AA 80AF 0.040 0.960
TSC_42_C 58AF 1.000
TSC_42_A 72AF 1.000
CEPH 184AF 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.016+/-0.0880000

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

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Revised: May 25, 2006 1:38 PM .