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: rs1722883          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/130
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_020299.3:c.75T>C
NT_007933.14:g.59262283T>C
Links

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 ss42930644 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1722883 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
ss2561519SC_JCM|AC073235.4_11517fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc11/03/0010/10/0389Genomicunknown
ss4921038YUSUKE|IMS-JST088883rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc07/24/0210/10/03108Genomicunknown
ss24052304PERLEGEN|afd0584012byFreqrev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc08/10/0409/13/04123Genomicunknown
ss42930644ABI|hCV26503372byFreqrev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc07/18/0511/03/06126Genomicunknown
ss66577655ILLUMINA|HumanHap300v1.1_rs1722883fwd/BA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc11/09/0611/09/06127Genomicunknown
ss67181781ILLUMINA|HumanHap550v1.1_rs1722883fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc11/14/0611/14/06127Genomicunknown
ss67550541ILLUMINA|HumanHap650Yv1.0_rs1722883fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc11/14/0611/14/06127Genomicunknown
ss70451608ILLUMINA|HumanHap300v2.0_rs1722883fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc04/18/0711/18/07127Genomicunknown
ss70659826ILLUMINA|HumanHap550v3.0__rs1722883rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc04/20/0703/30/08130Genomicunknown
ss71220855ILLUMINA|HumanHap650Yv3.0_rs1722883fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc04/23/0704/23/07127Genomicunknown
ss74943226ILLUMINA|ILMN_Human_1M_rs1722883fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc08/28/0708/29/07129Genomicunknown
ss76818747AFFY|AFFY_6_1M_SNP_A-8680273fwd/TA/Gcttctttcactttgccagaggagactgaaagg08/28/0708/30/07129Genomicunknown
ss76877645CGM_KYOTO|719981rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc09/12/0709/12/07129cDNAunknown
ss78382060HGSV|Cor12878_SNV_20070510.chr7_133672658rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc10/17/0710/19/07129Genomicunknown
ss83401790HGSV|Cor18956_SNV_20070510.chr7_133672658rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc11/30/0712/04/07130Genomicunknown
ss83866084KRIBB_YJKIM|KHS560570fwd/TA/Gggccaccttcactgcttctttcactttgccagaggagactgaaaggcaaaagaaaagctc12/04/0712/05/07130Genomicunknown
ss95213657CNG|29945406rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc03/13/0803/13/08129Genomicunknown
ss98341156HUMANGENOME_JCVI|1103652710782rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc03/31/0803/31/08130Genomicunknown
ss105575705BGI|BGI_rs1722883rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc09/10/0806/18/09130Genomicunknown
ss1125575531000GENOMES|CEU.trio.12.15.2008_1861149_chr7_133865943rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc12/15/0812/17/08130Genomicunknown
ss116323951ILLUMINA-UK|NA18507_000164765_NCBI36.1_chr7_133865943rev/BC/Tgagcttttcttttgcctttcagtctcctctggcaaagtgaaagaagcagtgaaggtggcc01/16/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1722883|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGTTGTATTC ACGGATGTTA TCAAGGCAGA GATGAAAAGG GGTACATGTA GAAAAGGCTG
 ACAGAGTTCT TGCTGCCAAC CCGACCCAGA TACTTCTGCC TGCCTTGAAG TGAAGGCCTC
 CCACCAAATG CACCATTGCA CCTTGCTGAC GATGAACAGG TCCTCCCGCT TCACAGCCTT
 CTCTTGGATC TTCTCTTGGA TGGCTTCCCC CACTTCATGT TCATTCTGAT AGACATAGGC
 ACAGTCAATG TGCCGATATC CTGCATCAAT GGCCACCTTC ACTGCTTCTT TCACTTTGCC
 R
 AGAGGAGACT GAAAGGCAAA AGAAAAGCTC ATCACATATG TGTTTTTTTT AAGAGATGGG
 GCCCTGCCGT GTTGCCCAGG CTGGCCTCAC ACTCCCAGGT TCAAGCAACC CTCCCACCTC
 CCGAGTAGCT GGAATTACAC CACTCTCAGC AACCATCATA TTCTCTTATC CCCAGGCCAC
 CTTCAACAGG CTGCCCCACA AGGCCCAGTT TCTCCAAACC AAGGCCTCAC TGGGGTCTCC
 TTTGCCAGGG GATCTCTGGG AGGATACACA CTTTACAAAA CTTTTCAAAA GAAAAGAAGG

  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_007933.14 ABBA01001110 AC009276 AC078847
dbSNP Blast Analysis
UniGene Cluster ID
116724
3D structure mapping
NP_064695  

  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
ss24052304 AFD_EUR_PANEL European 48 IG 0.250 0.583 0.167 0.403 0.542 0.458
AFD_AFR_PANEL African American 46 IG 0.087 0.348 0.565 0.655 0.261 0.739
AFD_CHN_PANEL Asian 46 IG 0.261 0.478 0.261 1.000 0.500 0.500
ss42930644 HapMap-CEU European 120 IG 0.267 0.517 0.217 1.000 0.525 0.475
HapMap-HCB Asian 88 IG 0.409 0.364 0.227 0.150 0.591 0.409
HapMap-JPT Asian 88 IG 0.341 0.455 0.205 0.655 0.568 0.432
HapMap-YRI Sub-Saharan African 120 IG 0.050 0.433 0.517 0.439 0.267 0.733

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.497+/-0.036 1264 1052 15 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
 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 .