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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11673029          
refSNP ID: rs11673029
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:T
Clinical Association:unknown
HGVS Names
NM_025027.3:c.421A>G
NP_079303.2:p.S141G
NT_011109.15:g.30759816T>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 ss44167788 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11673029 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
ss16808052CSHL-HAPMAP|CSHL-HuAA-200402.chr19.NT_011109.15_30759817fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga02/17/0403/04/04120Genomicunknown
ss44167788ABI|hCV2842459byFreqfwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga07/18/0511/03/06126Genomicunknown
ss65725383ILLUMINA|Human1-rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga10/10/0610/10/06127Genomicunknown
ss66279813AFFY|SNP_A-1795148byFreqrev/TA/Gggtgagaaatcttgaagcaaagcattgatccc10/29/0603/31/08127Genomicunknown
ss66635815ILLUMINA|HumanHap300v1.1_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga11/09/0611/09/06127Genomicunknown
ss66943403ILLUMINA|HumanHap550v1.1_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga11/14/0611/14/06127Genomicunknown
ss67104973ILLUMINA|HumanHap650Yv1.0_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga11/14/0611/14/06127Genomicunknown
ss69232436PERLEGEN|PGP04785474byFreqfwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga01/30/0703/31/08127Genomicunknown
ss70396997ILLUMINA|HumanHap300v2.0_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga04/18/0711/18/07127Genomicunknown
ss70535839ILLUMINA|HumanHap550v3.0__rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga04/20/0703/30/08130Genomicunknown
ss71067174ILLUMINA|HumanHap650Yv3.0_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga04/23/0704/23/07127Genomicunknown
ss75544669ILLUMINA|ILMN_Human_1M_rs11673029fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga08/28/0708/29/07129Genomicunknown
ss75935531AFFY|AFFY_6_1M_SNP_A-1795148rev/TA/Gggtgagaaatcttgaagcaaagcattgatccc08/28/0708/29/07130Genomicunknown
ss78988817HGSV|Cor18507_SNV_20070510.chr19_63183439fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga10/19/0710/21/07129Genomicunknown
ss85118361KRIBB_YJKIM|KHS903842fwd/BC/Taaatgctctgtgctgggatcaatgctttgcttcaagatttctcacccattctgaaacaga12/04/0712/08/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11673029|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CAGGCTTATA GAAATGTTCT ATCTGAGAAA CTCTCTGAGA TGGAACAAAG TTTAAGTTCT
 GGCTAAACTC TGCCCCAAGT CCACAGAATT CAGAGCTTCT CTGGGATAGT ACTTGCTTTT
 GCATGAAGAC CATCTGCCTC ATAGCTGTAC TCTGGTTCAT GTGGTACATT TCTAATTGGT
 CTTTACATCC CAAAACTTCT AACCTGGAGA ACCAAGGATC ATCCCATATA TATCTTTCCA
 ACTTCATGCC ATGGGATTGT TCTTCCTCAA AAATGCTCTG TGCTGGGATC AATGCTTTGC
 Y
 TTCAAGATTT CTCACCCATT CTGAAACAGA CAGAAAAAAA GCTATGAGAG CATAGAGAAA
 GACATTAGAA TAAAGTGGGA ATGGTGAGAT TTACTGTCCA TATTATCAAA AACACTAGTA
 TAAATTTGTT TTCAAGTCCA GGCTTAGAAC TCAGAGAAAG ATCATAATAG GGAAAAGAAT
 AGTGAAAAGT AAACAACAGT TAACCAGAAT ACAAAGTGTG TACTGAAAAC TAATGAAACC
 ATTTAAAAGT ACTTTCCATG AAAAGGAAGA CCAGTATAAG AATGTGCAAG AAAGAGGCCG

  GeneView back to top
GeneView via analysis of contig annotation: ZNF606 zinc finger protein 606
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_025027
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011109->NM_025027->NP_07930330759817reverse1039missenseGGly [G]1141
contig referenceASer [S]1141

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11673029 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_001838501.261623154802780minusAalt_assembly_8HuRefHuRefview300
19NW_927284.1784239355535109plusTalt_assembly_1CeleraCeleraview300
19NT_011109.153075981763183439plusTref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011109
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
NM_025027.3
UniGene Cluster ID
287629

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss44167788HapMap-CEUEuropean 120IG 0.017 0.217 0.767 1.000 0.125 0.875
HapMap-HCBAsian 90IG 0.178 0.822 0.527 0.089 0.911
HapMap-JPTAsian 88IG 0.114 0.886 0.752 0.057 0.943
HapMap-YRISub-Saharan African 120IG 0.033 0.283 0.683 1.000 0.175 0.825
AoD_African_American 90AF 0.260 0.740
AoD_Caucasian 92AF 0.210 0.790
ss66279813HapMap-CEUEuropean 118GF 0.017 0.220 0.763 0.127 0.873
HapMap-HCBAsian 90GF 0.178 0.822 0.089 0.911
HapMap-JPTAsian 90GF 0.111 0.889 0.056 0.944
HapMap-YRISub-Saharan African 120GF 0.033 0.283 0.683 0.175 0.825
ss69232436HapMap-CEUEuropean 120GF 0.017 0.217 0.767 0.125 0.875
HapMap-HCBAsian 90GF 0.178 0.822 0.089 0.911
HapMap-JPTAsian 90GF 0.111 0.889 0.056 0.944
HapMap-YRISub-Saharan African 120GF 0.033 0.283 0.683 0.175 0.825

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.207+/-0.2462702102700

  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 .