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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2566511          
refSNP ID: rs2566511
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:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_000603.3:c.1753-474C>T
NT_007914.14:g.11279057C>T
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 ss81597943 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2566511 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
ss3602715SC_JCM|AC010973.4_22864fwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac09/24/0110/10/03100Genomicunknown
ss5112384PGA-UW-FHCRC|NOS3-014094byFreqfwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac09/06/0204/07/04108Genomicunknown
ss10362293BCM_SSAHASNP|chr7.NT_007914.12_11245812fwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac06/29/0310/10/03116Genomicunknown
ss69369954PHARMGKB_PARC|PS203293_PA128454481_14094byFreqfwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac03/22/0708/14/07127Genomicunknown
ss69369957PHARMGKB_PARC|PS203293_PA128454993_14094byFreqfwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac03/22/0708/14/07127Genomicunknown
ss81597943HGSV|Cor18555_SNV_20070510.chr7_150140689fwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac11/27/0711/30/07130Genomicunknown
ss84474754HGSV|Cor19129_SNV_20070510.chr7_150140689fwd/BC/Taaggcagaaaaatcccttaagcccaggagttgaggttacagtgaatgatgatggagccac12/06/0712/07/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2566511|allelePos=371|totalLen=871|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AGCTGCGAGG ACGATCTGCC TGCCCCAACA AGTGGGGATT CAGCAACTCC ACTTCTAAGG
 ATTACCCAGC TGAAGCATTT AAAAGTGGGA GCAAGGCACA CGTACAAGGG CGTTTGAGAG
 AGCACCTGTT CCCAGACCAC CGAGCTGCCC TTCAGTCTCA GTGAAGTACA ATGTAGCCAC
 TAAAAAGACT GAGGTCATGT TTTGGAAAGT CCAGGCCGGA GGATCGCTTG AGCCCAGGAG
 TTCAAGGCCA GACTGAACAA CACAGCGAGA CTCCATCTCT TCAGAAAATT TAAAAATTAA
 CCAAGAGTGG TGGCACGCAC CTATAGATCT AGCTACTAGG AAGGCAGAAA AATCCCTTAA
 GCCCAGGAGT
 Y
 TGAGGTTACA GTGAATGATG ATGGAGCCAC TGCACCCCAA CCTGGGCGAC AGAGCAAGAC
 CCATATCTAA AAACAATACT ACTACTTACG TCAATATTGT TGTATTGACC TGGAGGGATG
 TCTGCAATAA ATTATTGATT AAAACCAAGG AAGTACAGTA TGGTACCACT TTTACTTAAA
 AAAAAACTAT AAATATGCAC ATGCACGTAA GTTCAAGGAA AAAGGGCTGG AAGGTTAACA
 CCTGTCAATG GCGCATATGC CCGGAGGGAA GATGGGGTGG TCTTTGTCTT ATCACTTTAC
 ACATTTCTGT AATGTCATTT TTCAAAAACA TCAGATCGCT TTTGAAATTT TCAAAACAAA
 TAAAAATTAA GTTACAAATC AATAATAATG AGGATCAGCT GGTACAGTTT TAAACTTCTA
 TGTAGTTTGA AATGAAACAA AACTAACCCT GATGCAAACA CTCCCCTCGC CAGAGCTTTG
 CAGCTGCCCT GATGGAGATG

  GeneView back to top
GeneView via analysis of contig annotation: NOS3 nitric oxide synthase 3 (endothelial cell)
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_007914->NM_000603
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007914->NM_000603->NP_00059411279057forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2566511 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839088.21796485144515368minusGalt_assembly_8HuRefHuRefview370
7NW_923751.1717863145260374plusCalt_assembly_1CeleraCeleraview370
7NT_079596.250068198150032630plusCalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view370
7NT_007914.1411279057150333974plusCref_assemblyreferencereferenceview370

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914 D26607
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss5112384PGA-AFRICAN-PANELAfrican American 48IG 0.458 0.417 0.125 1.000 0.667 0.333
PGA-EUROPEAN-PANELEuropean 44IG 0.591 0.364 0.045 1.000 0.773 0.227
ss69369954PA128454482 94AF 0.723 0.277
ss69369957PA128454994 94AF 0.723 0.277

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.405+/-0.196472600

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .