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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2291343          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_004361.2:c.1727A>G
NM_033646.1:c.1727A>G
NP_004352.2:p.Asn576Ser
NP_387450.1:p.Asn576Ser
NT_025028.13:g.11320862A>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 ss44089270 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2291343 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
ss3233578YUSUKE|IMS-JST043663fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga09/05/0110/10/03100Genomicunknown
ss16771676CSHL-HAPMAP|CSHL-HuAA-200402.chr18.NT_025028.13_11320862fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga02/17/0403/04/04120Genomicunknown
ss19382953CSHL-HAPMAP|CSHL-HuDD-200402.chr18.NT_025028.13_11320862fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga02/20/0403/04/04120Genomicunknown
ss20052124CSHL-HAPMAP|CSHL-HuFF-200402.chr18.NT_025028.13_11320862fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga02/21/0403/04/04120Genomicunknown
ss21495851SSAHASNP|WGSA-200403-chr18.chr18.NT_025028.13_11320862fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga03/20/0403/20/04121Genomicunknown
ss28508006MGC_GENOME_DIFF|BC036786x29823171-A11320862Gfwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga08/25/0408/25/04126cDNAunknown
ss44089270ABI|hCV15965204byFreqfwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga07/18/0511/03/06126Genomicunknown
ss65726624ILLUMINA|Human1-rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga10/10/0610/10/06127Genomicunknown
ss66644736ILLUMINA|HumanHap300v1.1_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga11/09/0611/09/06127Genomicunknown
ss67243159ILLUMINA|HumanHap550v1.1_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga11/14/0611/14/06127Genomicunknown
ss67640001ILLUMINA|HumanHap650Yv1.0_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga11/14/0611/14/06127Genomicunknown
ss70721502ILLUMINA|HumanHap550v3.0__rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga04/20/0703/30/08130Genomicunknown
ss71289924ILLUMINA|HumanHap650Yv3.0_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga04/23/0704/23/07127Genomicunknown
ss74806319AFFY|SNP_M-176138fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga08/09/0708/09/07128Genomicunknown
ss75498999ILLUMINA|ILMN_Human_1M_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga08/28/0708/29/07129Genomicunknown
ss79127288ILLUMINA|HumanHap300v2.0_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga04/18/0711/18/07130Genomicunknown
ss84024474KRIBB_YJKIM|KHS605275fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga12/04/0712/06/07130Genomicunknown
ss90831069BCMHGSC_JDW|JWB-1115700fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga02/26/0803/01/08129Genomicunknown
ss96348765HUMANGENOME_JCVI|1103645223773fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga03/26/0803/26/08130Genomicunknown
ss106553002BGI|BGI_rs2291343fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga09/15/0806/19/09130Genomicunknown
ss1107295181000GENOMES|CEU.trio.12.15.2008_3538454_chr18_61680996fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga12/15/0812/17/08130Genomicunknown
ss1145504311000GENOMES|NA19240_2008_12_16_3185879_chr18_61680996fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga12/18/0812/18/08130Genomicunknown
ss117916453ILLUMINA-UK|NA18507_000079253_NCBI36.1_chr18_61680996fwd/TA/Gacagtggatctccctcacttagcagcaccacaccctcaccatccgcgtgtgtgactgtga01/20/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2291343|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TATAATGTAT TAAACTGGAA ATGTCCCTCT GTCCTAGAGA ATTGAAAGAA AATTGTTGAA
 ATAAATCTGC AACTCCAGAG ATTTCCCTAA TTAAGGCATC AAAGTAAATA GAGTGACTTA
 AATAAAGTTT GGGAAGACTG ATTCCATCAG AAATCTGGTG TTATACATTT GCTTTCGTTA
 TCCTAGACAA CACAGCCTCA ATACTGACCA GGAGAAACGG CTTCCGGAGA CAGGAACAAT
 CAGTTTACTA TCTGCCAATT TTCATTGTGG ACAGTGGATC TCCCTCACTT AGCAGCACCA
 R
 CACCCTCACC ATCCGCGTGT GTGACTGTGA TGCTGACGGC GTAGCCCAGA CCTGCAATGC
 AGAGGCCTAT GTCCTACCTG CTGGCCTCAG TACAGGAGCC CTGATAGCCA TACTCGCCTG
 TGTCTTGACA TTATTGGGTA GGTACTGTTT CCAGGGCTTG CTCTGAAAGA GCTGTCACAA
 TAACCACATG TCACGACTTG CCTATTATCT TCTCCATTTG GTGAACATAT GCAGATATTC
 TACTGGATGG TGTTTGTTTT GTTTTGTTTT TCTTTGAGAC GGGGTCTCAC TCTGTTGCCC

  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_025028 ABBA01056245 BC036786
dbSNP Blast Analysis
UniGene Cluster ID
130306

  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
ss44089270 HapMap-CEU European 120 IG 0.067 0.450 0.483 0.527 0.292 0.708
HapMap-HCB Asian 90 IG 0.022 0.111 0.867 0.150 0.078 0.922
HapMap-JPT Asian 88 IG 0.114 0.886 0.752 0.057 0.943
HapMap-YRI Sub-Saharan African 120 IG 0.467 0.433 0.100 1.000 0.683 0.317

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.427+/-0.177 1208 1002 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
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .