NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs2716243          
refSNP ID: rs2716243
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
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 ss14393491 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2716243 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
ss3837358SC_JCM|AC080181.2_108706fwd/TA/Gtttgaaaattatgaatctaacaaaggactatatctataacctacaagaaactcaaacaaa09/25/0110/10/03100Genomicunknown
ss14393491WI_SSAHASNP|chr22.NT_011516.5_210268fwd/TA/Gtttgaaaattatgaatctaacaaaggactatatctataacctacaagaaactcaaacaaa11/05/0311/22/03126Genomicunknown
ss20140140CSHL-HAPMAP|CSHL-HuFF-200402.chr22.NT_011516.5_210268fwd/TA/Gtttgaaaattatgaatctaacaaaggactatatctataacctacaagaaactcaaacaaa02/21/0403/04/04120Genomicunknown
ss89863510BCMHGSC_JDW|JWB-2858000rev/BC/Ttttgtttgagtttcttgtaggttatagatatagtcctttgttagattcataattttcaaa02/26/0802/28/08130Genomicunknown
ss91865005BCMHGSC_JDW|JWB-1506494fwd/TA/Gtttgaaaattatgaatctaacaaaggactatatctataacctacaagaaactcaaacaaa02/26/0803/02/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2716243|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CAAATATGTT ggcatcacgt tacctgactt caaattatac tctaaggcca cagtaacaga
 aacagcgtgg tactggtata aaaacagata catagatcaa cggaacagaa cagacaactc
 agaaataaag ccgctacaac caagtgatct ctgagcaagc atacaaaaac atacactgga
 gaaagtacag gttattcagt aaatagtgct gggaaaaaaa gagagccaca tgtggaggaa
 tgaaactgga tctctatctc tcaacatata caaaaattaa ttcaagatgg atgaaaggcc
 caaacctaag acctgaaaac attggcctag gcaaagaatt tatgatgaag accttaaagc
 caatgcaaca aaaatgaaaa taaataagac ctaattaaac taaaaacctt cagcacagca
 aaagaaataa tcatcagagt aaaccaacaa cctatacaat gggaagaaaa tttgaaaatt
 atgaatctaa caaaggacta
 R
 tatctataac ctacaagaaa ctcaaacaaa tcaacaggaa aaaacacaaa tatttccatt
 agaatgtggc caaattacat gaatagccat ttctcaaaag aagatgtaca aacggtaaac
 aagcatataa aaacatgcga aatatctcga atcatcagga aaatgcacaa taaaatgaca
 gtgagatatc acctcgctgc agccagaatg gccactatta gaaaacaaaa aaaaacagat
 gttggtgtgg atgtggtgaa aggagaacag tgatacactg ctggtgggaa tgcaaattca
 tacaaatcta tggacaacag tatggagagt tctcaaagaa ctaaaaatag atcctaccat
 tttatccagc attctcattt ctggatagct acacaaaaca aaagaaatcg tactctcaca
 aagacacccg cacacatatg tttactgcag cacaattcac aatatgcaaa gatatggaat
 cagccagtgt ccatgaactg

  GeneView back to top
GeneView via analysis of contig annotation: FKSG30 actin, beta-like 3
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
CeleraNW_921585->XM_001723159
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
CeleraNW_921585->XM_001723159->XP_001723211294098forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer: rs2716243 was not linked to the human genome 36.3 because it aligned to more than 2 locations on the genome.
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
14NT_026437.1158100618651006minusCref_assemblyreferencereferenceview500
14NT_026437.1199263019062630plusGref_assemblyreferencereferenceview500
2NW_921585.1294098126104295minusTalt_assembly_1CeleraCeleraview500
22NW_001838730.2835474831minusCalt_assembly_8HuRefHuRefview500
22NT_028395.321026814640268plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011516 AL512624 AP000529
dbSNP Blast Analysis
GenBank HTGS Finished:
AL512624.5 AL589182.4 AL929601.4

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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 .