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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11786767          
refSNP ID: rs11786767
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_002095.4:c.-5+955A>C
NT_007995.14:g.835309T>G
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 ss81131773 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11786767 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
ss17241912CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_007995.13_835309byFreqfwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta02/17/0410/26/06120Genomicunknown
ss22751845SSAHASNP|WGSA-200403-chr8.chr8.NT_007995.13_835309fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta03/21/0403/21/04121Genomicunknown
ss43266745ABI|hCV1379656fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta07/18/0507/18/05126Genomicunknown
ss81131773HGSV|Cor18507_SNV_20070510.chr8_30634077fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta11/26/0711/28/07130Genomicunknown
ss93864550BCMHGSC_JDW|JWB-2448727fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta02/26/0803/05/08129Genomicunknown
ss1129565621000GENOMES|CEU.trio.12.15.2008_1963304_chr8_30634077fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta12/15/0812/18/08130Genomicunknown
ss1152175631000GENOMES|NA19240_2008_12_16_1770159_chr8_30634077fwd/BG/Tggaaccaaacctcctgactcctaactcaaggctccttacaccagacctggaacgctggta12/18/0812/19/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11786767|allelePos=501|totalLen=728|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 ATTTAAATAG GCCGGGCGCA GCGGCTCACG CCTGTAATCC CAGCACTTTG GGAGGCCGAG
 GAGGGCGGAT CACGAGGTCA GGAGTTCTAG ACGAGTCTGG CCAACATGGT GAAACTCCGT
 CTCCATTAAA AATTTAAAAA ATGTGCAGGG TGTCGTTGCG GGTGCCTGTA ATCCCAACTA
 CTTGGGAGGC TGAGGCAGGA GAATCGCTTG AACCAGGGAC GTGGAGCTTG CAGTAAGCCA
 AGATCGCGCC ACTGCACTCC AGCCCGGGCG ACAGTGCGAG ACTCCGTCTC AGAAAAAAAA
 AAAAAAAAAA GTAAATAAAG CCGTACAGTT TACAACAAAC TAAATGCTTA CAGTATTTGA
 CCCTCGCAAC TCTAGGAGCA AACAGGTATT AGTGTTATTC CTATTTTAAT ACGTGAAATC
 TGAAGTGAAG CTGTCTGGTT AAGGTCGCAC AGATGGAAGA GCCAGGGCCA GGAACCAAAC
 CTCCTGACTC CTAACTCAAG
 K
 GCTCCTTACA CCAGACCTGG AACGCTGGTA AAGGCCTTTA AAACAAAGGC CACCTGTGAG
 GTTCGGGAAC GTTCAAAGGC ATCTAGAGCA GAAAGCTTCG CAATGTCTGT CTTTCACCAT
 CACGTGCTCC GCCTAACTTT TCCTCCTTTT TCAAAGACTA CCCAATATGT GTACTAAGTT
 TTAGATCTCT GGACCCCCCT ATGGAGTAAA CAGGCTACAT CACCATG

  GeneView back to top
GeneView via analysis of contig annotation: GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
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_007995->NM_002095
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007995->NM_002095->NP_002086835309reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11786767 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839128.2825180729059199minusCalt_assembly_8HuRefHuRefview500
8NW_923907.11804089429473056plusTalt_assembly_1CeleraCeleraview500
8NT_007995.1483530930634077plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007995
dbSNP Blast Analysis
GenBank HTGS Draft:
AF215848.3

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss17241912HapMap-CEUEuropean 120IG 0.183 0.383 0.433 0.200 0.375 0.625
HapMap-HCBAsian 90IG 0.044 0.400 0.556 0.584 0.244 0.756
HapMap-JPTAsian 88IG 0.091 0.386 0.523 0.752 0.284 0.716
HapMap-YRISub-Saharan African 120IG 0.133 0.533 0.333 0.403 0.400 0.600

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.446+/-0.15627021000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .