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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11784821          
refSNP ID: rs11784821
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002052.2:c.616+14595C>T
NT_077531.3:g.4056382C>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 ss17235029 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11784821 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
ss17235029CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_077531.3_4056382byFreqfwd/BC/Ttgctttccatcctataaaatgtcctaatcttttttatgagttttctcttgccaggcctgg02/17/0410/26/06120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11784821|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=120
 AAATGAAATT GTTTTCAGCA TGATTAAGAA CTCATGGACT TCAgctgagt atagaggctc
 atgcttgtaa tcccagcact ttgggaggct gaggctggag gatcatttga acctaggagt
 ttgaagccag catgagcaac atagtgagag cctgtctcta caaaataaat aaataaataa
 ataaattagg caggggtggt ggcatgtgcc tgtagtccca gatacttggg aggctgaagt
 gggaggattg cttgacctgg gagttcgagg ctgcagtgac tcatggtcca accactgcaa
 tcagcaagac cctgtgttaa aaaaaaaaaa caaaaaaaCc tcatgggttt aaacaagcat
 gatgtgtttc tatccatata tcctgattga tgttcagatt gtcctatctt tgctagaggg
 aacttgctta aactgagctc ttttgacaaa atcttagttt aatagtttct tgctttccat
 cctataaaat gtcctaatct
 Y
 tttttatgag ttttctcttg ccaggcctgg atttggccat ttgccccaag aaacctggct
 cctgttagtg aggaatggcg tttggagatc aatctcagag ctagctctgc cagctgggct
 tattgctatt gggttagtca ttcaacatgc agagtcagga aatacgtacc cctcctaccc
 caaagataag ataaaataca gcatgtcttc atactgatgc tttcaattca aatttaGGGC
 TAAAAGGCTT TTACTTGCTT CATTCATCTT TTTAAAAAaa ttatcttaaa ctatacataa
 gataaaatgt accgttttag ccattattaa gtgtacagtt gggtggcatt aagtacatcc
 acagtattgt acaaccatca cccccagcag tctccggaac tcttgcatct tcccaagtga
 aactctgtac ccattaaata acgtctccgt atccccttcc ctccagcctc aggcagcccc
 cattgtgctt tctgtctctC

  GeneView back to top
GeneView via analysis of contig annotation: GATA4 GATA binding protein 4
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_077531->NM_002052
svfunction
HuRefNW_001839122->NM_002052
svfunction
CeleraNW_923873->NM_002052
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_077531->NM_002052->NP_0020434056382forwardintron
HuRefNW_001839122->NM_002052->NP_002043476272reverseintron
CeleraNW_923873->NM_002052->NP_0020433497700forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11784821 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_001839122.247627210512012minusGalt_assembly_8HuRefHuRefview500
8NW_923873.1349770010710374plusCalt_assembly_1CeleraCeleraview500
8NT_077531.3405638211618441plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077531
dbSNP Blast Analysis
GenBank HTGS Finished:
AC069185.7 NC_000008.9

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss17235029HapMap-CEUEuropean 108IG 0.907 0.093 0.752 0.954 0.046
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 102IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.025+/-0.11027021000

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

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Revised: May 25, 2006 1:38 PM .