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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10306118          
refSNP ID: rs10306118
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_000962.2:c.94+690G>T
NM_080591.1:c.94+690G>T
NT_008470.18:g.32455446G>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 ss14327260 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10306118 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
ss14327260PGA-UW-FHCRC|PTGS1-002937byFreqfwd/BG/Tcagaaagctgcttctacccacaatggacccgagccactctgggtttcatgggggaggttg11/07/0310/25/06119Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10306118|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=119
 CAGTGGAGAA GGTCTCCCCT GGTGAAGACT TCGGGAGAAC ATGGGAGATG GAAATACATT
 TAGGAGCCGG GATGCTTCAT CTGGGGTTTA AGAGATCCCC ATTGAGCAAA TGAGGAAACC
 GAGGCTCAGT AGGTGCCATG ATTCCCCAAG CTCACAAAAT ACATGGTGGG CCCAGGATCT
 GAACTCAGGT CTGTCTGCGT CCACACACTT CGCAAGGTCT TTCCACAGAA AGCTGCTTCT
 ACCCACAATG GACCC
 K
 GAGCCACTCT GGGTTTCATG GGGGAGGTTG ATGGGGAAAT TCCGCCCTTC CCTCCCCCAT
 GCATGTGCCA GGTTCCAGGT GAAGGAATTC AGCTCCTCGC TCAGCCAACC TTCCTCCCCC
 AGCTCGCTGC TTGTGTGTGT GCGTGTGTGT GAGCATGTGT CCCAGTTGGA TATAGTTTCC
 TCCACCACCT AGCTGTGTAA AATCTCTAAA ATGAGGCCCA GAGAGGGCAG GAGGGAGCAG
 AGGGAGTCCG CACTT

  GeneView back to top
GeneView via analysis of contig annotation: PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
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_008470->NM_000962
svfunction
referenceNT_008470->NM_080591
svfunction
HuRefNW_001839239->NM_000962
svfunction
HuRefNW_001839239->NM_080591
svfunction
CeleraNW_924573->NM_000962
svfunction
CeleraNW_924573->NM_080591
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_008470->NM_000962->NP_00095332455446forwardintron
referenceNT_008470->NM_080591->NP_54215832455446forwardintron
HuRefNW_001839239->NM_000962->NP_000953476272forwardintron
HuRefNW_001839239->NM_080591->NP_542158476272forwardintron
CeleraNW_924573->NM_000962->NP_0009539270392forwardintron
CeleraNW_924573->NM_080591->NP_5421589270392forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10306118 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
9NW_001839239.147627294748964plusGalt_assembly_8HuRefHuRefview255
9NW_924573.1927039295782561plusGalt_assembly_1CeleraCeleraview255
9NT_008470.1832455446124174062plusGref_assemblyreferencereferenceview255

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AY449688
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL162424.20 NC_000009.10 AL353767.14

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss14327260PGA-AFRICAN-PANELAfrican American 46IG 0.696 0.261 0.043 0.752 0.826 0.174
PGA-EUROPEAN-PANELEuropean 46IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.159+/-0.233472600

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqUNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .