Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs3809529          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_004998.2:c.1531-1544G>A
NM_033195.1:c.89C>T
NP_149972.1:p.Pro30Leu
NT_010194.16:g.30289785C>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 ss43718341 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3809529 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
ss4995930YUSUKE|IMS-JST169199fwd/TA/Gccgttgagcgggatgcgcgttgcttgacgcgacacagggccatccccaggcataggaaat08/12/0210/10/03107Genomicunknown
ss6587990WI_SSAHASNP|NT_010194.13_14472114rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg02/12/0310/10/03111Genomicunknown
ss10801707BCM_SSAHASNP|chr15.NT_010194.15_30288839rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg06/30/0310/10/03116Genomicunknown
ss16663459CSHL-HAPMAP|CSHL-HuAA-200402.chr15.NT_010194.16_30289785rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg02/17/0403/04/04120Genomicunknown
ss19311239CSHL-HAPMAP|CSHL-HuDD-200402.chr15.NT_010194.16_30289785rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg02/20/0403/04/04120Genomicunknown
ss21232405SSAHASNP|WGSA-200403-chr15.chr15.NT_010194.16_30289785rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg03/19/0403/19/04121Genomicunknown
ss28510956MGC_GENOME_DIFF|BC022034x37540936-C30289785Trev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg08/25/0408/25/04126cDNAunknown
ss43718341ABI|hCV25990019byFreqrev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg07/18/0511/03/06126Genomicunknown
ss46552160PERLEGEN|PS03557236rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg08/01/0508/01/05126Genomicunknown
ss74806076AFFY|SNP_M-174266fwd/TA/Gccgttgagcgggatgcgcgttgcttgacgcgacacagggccatccccaggcataggaaat08/09/0708/09/07128Genomicunknown
ss80033379HGSV|Cor18507_SNV_20070510.chr15_57286520rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg11/23/0711/24/07130Genomicunknown
ss86267664CORNELL|hCV25990019rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg01/21/0801/21/08129Genomicunknown
ss86348084CANCER-GENOME|17285rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg01/25/0801/25/08129Genomicunknown
ss90175591BCMHGSC_JDW|JWB-0863559rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg02/26/0802/29/08129Genomicunknown
ss96815527HUMANGENOME_JCVI|1103645625291rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg03/27/0803/27/08130Genomicunknown
ss1088606841000GENOMES|CEU.trio.12.15.2008_3174892_chr15_57286520rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg12/15/0812/16/08130Genomicunknown
ss1142516841000GENOMES|NA19240_2008_12_16_2849060_chr15_57286520rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg12/18/0812/18/08130Genomicunknown
ss118248024ILLUMINA-UK|NA18507_000047437_NCBI36.1_chr15_57286520rev/BC/Tatttcctatgcctggggatggccctgtgtcgcgtcaagcaacgcgcatcccgctcaacgg01/20/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3809529|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TTGCTACAAA CAATATTTGG CATTTTCGTG AAAGGGCTGC CATGTTGAAG ATCCATCGTC
 TCACCCTTCA GTTTGTCTTC ATCAAGATCC ACAAGGGCAA GTTCATCACT CAAGCCTTTT
 AATAAGATGC TGATAGCGCA GGCCATGCCC ACCGATCCAG TTCCTATGAT GGAGACCTTA
 CTGTGATGAA CGGGCTTCTC GGAAGTGAAA CGCTCAATAA GCTCACTCTT CACAGTCGCC
 ATCTTGCTCA CGGGTGTGAA GAGCCAGGTG CCGTTGAGCG GGATGCGCGT TGCTTGACGC
 R
 GACACAGGGC CATCCCCAGG CATAGGAAAT TCGCTCCCAC CGAGCTCATT CTCTGGCTGG
 CCCGCACAAC AGGCACAGTC CAACTCATGG CTGCTCACTG AAGAAGTGGA GAGAGAGAAT
 GGAAAAAAGC TGCTGATCCG AACGTTGAGA CGCCAAGAGA GCCGTTGGCA GGACCTTCAG
 CACTCTACGG CAGGTGCGCG TGCCCCGCCC CCTGGCCCTC TACTGCGGCT GCGCGGGCCT
 TGCCAGAGTC TCCGACACGT GCTTTCCGTG GGTGCTCAGA CTAAGGCAGT GAAGGGCTGC

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_010289.6 ABBA01038968 BC022034
dbSNP Blast Analysis
UniGene Cluster ID
307052

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss43718341 HapMap-CEU European 120 IG 0.117 0.483 0.400 0.752 0.358 0.642
HapMap-HCB Asian 90 IG 0.356 0.511 0.133 0.655 0.611 0.389
HapMap-JPT Asian 88 IG 0.432 0.455 0.114 1.000 0.659 0.341
HapMap-YRI Sub-Saharan African 120 IG 0.133 0.533 0.333 0.403 0.400 0.600

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.500+/-0.012 526 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .