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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs685167          
refSNP ID: rs685167
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/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_014572.2:c.476-272G>A
NT_024524.13:g.2543715C>T
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 ss71642802 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs685167 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
ss858821SC_JCM|AL161613.4_92650fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct07/27/0010/25/0683Genomicunknown
ss1709786KWOK|OVLP-000925-589902fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct10/05/0010/10/0387Genomic99 %
ss2604450SC_JCM|AL161613.5_137513fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct11/03/0010/10/0392Genomicunknown
ss11060706BCM_SSAHASNP|chr13.NT_009799.12_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca07/01/0310/10/03116Genomicunknown
ss12232001WI_SSAHASNP|chr13.NT_009799.12_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca07/04/0310/10/03116Genomicunknown
ss13257877SC_SNP|NT_009799.12_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca10/22/0302/27/04119Genomicunknown
ss16278910SC_SNP|NT_024524.13_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca11/18/0311/22/03120Genomicunknown
ss19972220CSHL-HAPMAP|CSHL-HuFF-200402.chr13.NT_024524.13_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca02/21/0403/04/04120Genomicunknown
ss21126009SSAHASNP|WGSA-200403-chr13.chr13.NT_024524.13_2543715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca03/19/0403/19/04121Genomicunknown
ss43455010ABI|hCV2204837byFreqrev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca07/18/0511/03/06126Genomicunknown
ss66592343ILLUMINA|HumanHap300v1.1_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct11/09/0611/09/06127Genomicunknown
ss67507972ILLUMINA|HumanHap550v1.1_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct11/14/0611/14/06127Genomicunknown
ss67871067ILLUMINA|HumanHap650Yv1.0_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct11/14/0611/14/06127Genomicunknown
ss70891349ILLUMINA|HumanHap550v3.0__rs685167rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca04/20/0703/31/08130Genomicunknown
ss71484364ILLUMINA|HumanHap650Yv3.0_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct04/23/0704/23/07127Genomicunknown
ss71642802SI_EXO|NT_024524.13_2543715byFreqrev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca05/07/0703/31/08127Genomicunknown
ss74928524ILLUMINA|ILMN_Human_1M_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct08/28/0708/29/07129Genomicunknown
ss77367627HGSV|Cor12156_SNV_20070510.chr13_20461715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca10/09/0710/12/07129Genomicunknown
ss79236445ILLUMINA|HumanHap300v2.0_rs685167fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct04/18/0711/18/07130Genomicunknown
ss83517536KRIBB_YJKIM|KHS480259fwd/TA/Gtgtggtccccagggggcagggacgcacctcggatgtggacgcagtcttctcttctgccct12/04/0712/05/07130Genomicunknown
ss85041713HGSV|Cor19129_SNV_20070510.chr13_20461715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca12/06/0712/08/07130Genomicunknown
ss85208523HGSV|Cor18517_SNV_20070510.chr13_20461715rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca12/06/0712/08/07130Genomicunknown
ss89514111BCMHGSC_JDW|JWB-0636671rev/BC/Tagggcagaagagaagactgcgtccacatccgaggtgcgtccctgccccctggggaccaca02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs685167|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGTCCTTCCT TCCGGTGTCT GTTTCAGATG AGATGTACAA AATGGAGGTC AGGATTAAGG
 TAGCAGCAGA TGAAATCAAT CTGGATATTT GTAGAGGGGT TTTGTGTGGT TTTTATTATT
 GTGTATATAT TGCTTTGTTT TAATATAGAC AAAAAAAACT AGAAAGTCTT TTAATTTGGA
 AAAGAGGTGA AAGAGAAGTG GAGCAGCTGC TGCACAGTGG ATACAGTTCT GCCCTTTCTG
 TGAGGGAGCA GCGCTTTGGG AACCGTGTGT CGGTAAACTC AGCCCCCCAC AATTTGGGCA
 TGATAGGGTT TTGAAAAAGC AAAGCTGGCT ATGCAGACGG CTCCCTAGCC TGACAGGAGA
 GTGACCCCAG TGTGGTCCCC AGGGGGCAGG GACGCACCTC
 R
 GGATGTGGAC GCAGTCTTCT CTTCTGCCCT TGGCCCTCCC ATGTGCCCTT CAGCTTGTCT
 CCACTCTGCT AACACATTAG GGCAACTGGT CCTGCTGGCA GGGCAGAGGG GAGTCCACTG
 ACCCTGTGCT GGGCAGAATG CAGCACGTCA GGGCCCAGGG TTCAAGACCC TCAGCCCCGA
 GGGCAGCGCT AGAGTGGGGA CCAGCCTGGA AGTGCCAGAA CCCACTGATC ACACCCACTC
 TGATGCTGTC TTCCTGTTTT TTCCACTGCA GGAAAGGGGC TCATGCCAAC CCCAGTGACG
 CGGAGGCCCA GCTTCGAAGG AACCGGCGAT TCGTTTGCGT CCTACCACCA GCTGAGCGGT
 ACCCCCTACG AGGGCCCAAG CTTCGGCGCT GACGGCCCCA

  GeneView back to top
GeneView via analysis of contig annotation: LATS2 LATS, large tumor suppressor, homolog 2 (Drosophila)
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_024524->NM_014572
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_024524->NM_014572->NP_0553872543715reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs685167 maps exactly once on NCBI human chromosome 13
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
13NW_001838069.123666772366677minusTalt_assembly_8HuRefHuRefview400
13NW_925473.123608762625652minusTalt_assembly_1CeleraCeleraview400
13NT_024524.13254371520461715minusCref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024524.13 AL356285 AL356285.2
dbSNP Blast Analysis
GenBank HTGS Finished:
AL356285.9

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss43455010HapMap-CEUEuropean 120IG 0.817 0.183 0.439 0.908 0.092
HapMap-HCBAsian 90IG 1.000 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.400 0.467 0.133 1.000 0.633 0.367
ss71642802HapMap-CEUEuropean 120IG 0.817 0.183 0.908 0.092
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.400 0.467 0.133 0.633 0.367

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.228+/-0.24927021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .