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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs731835          
refSNP ID: rs731835
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NT_011109.15:g.31166626T>C
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 ss77265 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs731835 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
ss77265TSC-CSHL|TSC0020356byFreqfwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg09/06/0004/07/0486Genomic95 %
ss28461755KYUGEN|QH01938fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg07/07/0405/13/05123Genomicunknown
ss28461756KYUGEN|QH05189byFreqfwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg07/07/0411/02/06123Genomicunknown
ss44171169ABI|hCV522142fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg07/18/0507/18/05126Genomicunknown
ss66786968ILLUMINA|HumanHap300v1.1_rs731835fwd/TC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg11/09/0611/09/06127Genomicunknown
ss67569003ILLUMINA|HumanHap550v1.1_rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg11/14/0611/14/06127Genomicunknown
ss67948716ILLUMINA|HumanHap650Yv1.0_rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg11/14/0611/15/06127Genomicunknown
ss70923020ILLUMINA|HumanHap550v3.0__rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg04/20/0703/31/08130Genomicunknown
ss71523313ILLUMINA|HumanHap650Yv3.0_rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg04/23/0704/23/07127Genomicunknown
ss75777187ILLUMINA|ILMN_Human_1M_rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg08/28/0708/29/07129Genomicunknown
ss79254022ILLUMINA|HumanHap300v2.0_rs731835fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg04/18/0711/18/07130Genomicunknown
ss81800539HGSV|Cor19240_SNV_20070510.chr19_63590248fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg11/30/0712/01/07130Genomicunknown
ss83538384KRIBB_YJKIM|KHS484993fwd/BC/Tcaagacagggcaactacggggtagcggacaccgccaggcacgcttctagggccgcttctg12/04/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs731835|allelePos=125|totalLen=704|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTGAACAAAG AAGCGAGCGC TGGCCAGACT TTTTTCTTTA TTAGACATGG CTGCGTTGGT
 CTCACGGAAA TCTCTGCGCT TTTGCAGGCG CCCACAAGAC AGGGCAACTA CGGGGTAGCG
 GACA
 Y
 CCGCCAGGCA CGCTTCTAGG GCCGCTTCTG CAACTGCGCA TGCGCTTGGG CTGCACCCAT
 TCCGTCTAGC CCAAAAGGTT CCTCTACAAC CTTCCTCCGG ATTGGTCTAT AGGGACACGA
 TGGCCTTTTA CGCAAGCGTC ACCCGTGCTG ACCCGGAAGT TTTCTTCCCA GTTAAAAGTG
 TTGGCCCGCG GCGCGCGGCC TCTTCCTGTC TGTACCAGGG CGGCGCGTGG TCTACGCCGA
 GTGACAGAGA CGCTCAGGCT GTGTTCTCAG GTGAGACCGC CGCGGGGCCG GGGATCCTAG
 GGACGGTTCA TGGTCTTTCG GGGATAGTGC CCCGCGGCCT GGGCCTTTTC TCATTAGGTC
 TCATTTCTGT CTCTGGAAAA GAAAATGTAG AAGAAACGGG CGCGGGCCGA GTTACTCTTG
 ACTTCTTTCT GGGGCTCCGC CGCTTCTAGC TTTTCCCCAT AGCGGGGCTT GGGGAACTTG
 GTTTGAACTA TGCGGTTGTA CTCTGAGATA GGAGGATCCA TTTCTTAGGG ACACGATGCC
 CTCTTTTGCT CTGGTAACTT TCCCCCCGAA TAGCACCCC

  GeneView back to top
GeneView via analysis of contig annotation: RPS5 ribosomal protein S5
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_001009
svfunction
HuRefNW_001838501->NM_001009
svfunction
CeleraNW_927284->NM_001009
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011109->NM_001009->NP_00100031166626forward5' near gene
HuRefNW_001838501->NM_001009->NP_001000211365reverse5' near gene
CeleraNW_927284->NM_001009->NP_0010008249713forward5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs731835 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_001838501.221136555207646minusAalt_assembly_8HuRefHuRefview124
19NW_927284.1824971355942429plusTalt_assembly_1CeleraCeleraview124
19NT_011109.153116662663590248plusTref_assemblyreferencereferenceview124

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011109.15
dbSNP Blast Analysis
GenBank HTGS Finished:
AC012313.7 NC_000019.8

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss28461756CP 156AF 0.330 0.670
JPK2 200AF 0.110 0.890
ss77265SC_12_AAsian 22IG 0.182 0.818 0.752 0.091 0.909
SC_12_AAAfrican American 24IG 0.333 0.417 0.250 0.584 0.542 0.458
SC_12_CEuropean 14IG 0.286 0.571 0.143 0.752 0.571 0.429
SC_95_CEuropean 88IG 0.114 0.477 0.409 1.000 0.352 0.648
CEPH 184AF 0.270 0.730
HapMap-CEUEuropean 120IG 0.100 0.450 0.450 1.000 0.325 0.675
HapMap-HCBAsian 90IG 0.378 0.622 0.150 0.189 0.811
HapMap-JPTAsian 90IG 0.022 0.289 0.689 1.000 0.167 0.833
HapMap-YRISub-Saharan African 120IG 0.250 0.433 0.317 0.317 0.467 0.533
Concordant GenotypeTotal SampleC/CC/TT/T
ss7726534635133170
RefSNP Genotype SummaryTotal IndividualC/CC/TT/T
rs73183535035133170
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
151ss77265T/TTSC-CSHLSC_95_CCEPH1334.02TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
151ss77265C/TCSHL-HAPMAPHapMap-CEUNA10847CEPH1334.02r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
162ss77265T/TTSC-CSHLSC_95_CCEPH1340.02TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
162ss77265C/TCSHL-HAPMAPHapMap-CEUNA07019CEPH1340.02r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
174ss77265T/TTSC-CSHLSC_95_CCEPH1341.01TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
174ss77265C/CCSHL-HAPMAPHapMap-CEUNA07048CEPH1341.01r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
175ss77265C/TTSC-CSHLSC_95_CCEPH1341.02TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
175ss77265C/CCSHL-HAPMAPHapMap-CEUNA06991CEPH1341.02r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
215ss77265T/TTSC-CSHLSC_95_CCEPH1346.01TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
215ss77265C/TCSHL-HAPMAPHapMap-CEUNA10857CEPH1346.01r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
229ss77265C/CTSC-CSHLSC_12_CCEPH1347.02TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
229ss77265T/TTSC-CSHLSC_95_CCEPH1347.02TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
229ss77265C/TCSHL-HAPMAPHapMap-CEUNA10859CEPH1347.02r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
231ss77265C/TTSC-CSHLSC_12_CCEPH1347.04TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
231ss77265T/TTSC-CSHLSC_95_CCEPH1347.04TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
349ss77265T/TTSC-CSHLSC_95_CCEPH1362.02TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
349ss77265C/TCSHL-HAPMAPHapMap-CEUNA10861CEPH1362.02r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
399ss77265C/TTSC-CSHLSC_95_CCEPH1408.01TSC-SANGER-SC_95_C-Sep-18-2003-GENOTYPE
399ss77265C/CCSHL-HAPMAPHapMap-CEUNA10830CEPH1408.01r23_ch19_CEU_illumina:infinium_genotyping_2.0.0
Genotype data submitted for401 samples from350 individualsIndividual with multiple genotypes submission:49

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

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Revised: May 25, 2006 1:38 PM .