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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs943117          
refSNP ID: rs943117
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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_004566.2:c.1515+94A>G
NT_077569.2:g.631318A>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 ss76888594 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs943117 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
ss1384214TSC-CSHL|TSC0365068fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg09/06/0010/10/0386Genomic95 %
ss5467669TSC-CSHL|TSC0371875fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg09/21/0210/25/06108Genomicunknown
ss6550072WI_SSAHASNP|NT_008705.13_631318fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg02/12/0310/10/03111Genomicunknown
ss12107650WI_SSAHASNP|chr10.NT_077569.2_631318fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg07/04/0310/10/03116Genomicunknown
ss19885109CSHL-HAPMAP|CSHL-HuFF-200402.chr10.NT_077569.2_631318fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg02/21/0403/04/04120Genomicunknown
ss20692144SSAHASNP|WGSA-200403-chr10.chr10.NT_077569.2_631318fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg03/18/0403/19/04121Genomicunknown
ss39782772ABI|hCV9615101byFreqfwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg07/16/0511/02/06126Genomicunknown
ss66598200ILLUMINA|HumanHap300v1.1_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg11/09/0611/09/06127Genomicunknown
ss67917483ILLUMINA|HumanHap550v1.1_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg11/14/0611/15/06127Genomicunknown
ss68042637ILLUMINA|HumanHap650Yv1.0_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg11/14/0611/15/06127Genomicunknown
ss71607294ILLUMINA|HumanHap650Yv3.0_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg04/23/0704/23/07127Genomicunknown
ss74961025ILLUMINA|ILMN_Human_1M_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg08/28/0708/29/07129Genomicunknown
ss76724496AFFY|AFFY_6_1M_SNP_A-8585706rev/BC/Tcacgcacccacgcacgattcttgcaaacacac08/28/0708/30/07129Genomicunknown
ss76888594SI_EXO|NT_077569.2_631318fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg09/20/0709/20/07129Genomicunknown
ss79296423ILLUMINA|HumanHap300v2.0_rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg04/18/0711/18/07130Genomicunknown
ss82002618HGSV|Cor18555_SNV_20070510.chr10_6308428fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg11/27/0712/01/07130Genomicunknown
ss82394883HGSV|Cor18956_SNV_20070510.chr10_6308428fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg11/30/0712/02/07130Genomicunknown
ss83623977KRIBB_YJKIM|KHS504215fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg12/04/0712/05/07130Genomicunknown
ss88080749BCMHGSC_JDW|JWB-0229330fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg02/26/0802/27/08129Genomicunknown
ss98258999ILLUMINA|HumanHap550v3.0__rs943117fwd/TA/Ggggattgcgtgcgtgtgtgtttgcaagaatcgtgcgtgggtgcgtgtgggtgcgcgtgcg04/20/0703/31/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs943117|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GGTCCCGGCC ACTCCCCTCG GTCAGTCTTT TTGCCTCTCT AAAATCCAGG AGCAGAGAAA
 CTTTTTTGGG GCTAATTTTC CTCCCCTTCT TTGTAACTGT CGCCTTTCTC TCTTTTGTCT
 TTGTCTTGCT TAGGATGCAA AGAAGGGACC TAACCCGCTC ATGAGACGCA ATAGTGTCAC
 CCCGCTAGCC AGCCCCGAAC CCACCAAAAA GCCTCGCATC AACAGCTTTG AGGAGCATGT
 GGCCTCCACC TCGGCCGCCC TGCCCAGCTG CCTGCCCCCG GAGGTGCCCA CGCAGCTGCC
 TGGACAAGTC AGTGCACTCC CCTTTCCTTC CTGCCTGGGG GACGCATGCC GGGCGTGATG
 CCACAGATCT GGGATTGCGT GCGTGTGTGT TTGCAAGAAT
 R
 CGTGCGTGGG TGCGTGTGGG TGCGCGTGCG TATGTTGTAG GTGTCTGTGC ACGTGTGTTG
 TGGGGGCATG TGCACACACT CACGTGTTGA GGGAGAACAT AGGAAGCACC CTCCGAAGTT
 AAGATCCTGG GGGCTTTCCT TGCTGGTGAC AACCGTGACT GCGTTCGCCT CCTTTCTGAG
 GATGGGGTCT TTACAGGGCA GAAGCAGGCA GTGCAGAAGG AAGAGTGAGA TGTCCAAGAC
 CCGTTCACGT TCGTGAATGG TTATTTCTAA AACAAAGAAA GTGGCTACTT TCTCACATAA
 ATAACATGGT TATCCCAGCA GGTAGTAAAA AACCTAACAA ACAAGGCCAG GCGCGGTGGC
 TCACGCCTGT AATCCCAGCG CTTTGGGAGG CCGAGGTGGG

  GeneView back to top
GeneView via analysis of contig annotation: PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 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
referenceNT_077569->NM_004566
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_077569->NM_004566->NP_004557631318forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs943117 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
10NW_001837931.2245878716194106minusCalt_assembly_8HuRefHuRefview300
10NW_924584.161971396197139plusGalt_assembly_1CeleraCeleraview300
10NT_077569.26313186308428plusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077569.2 AL359960.11
dbSNP Blast Analysis
GenBank HTGS Finished:
AL157395.17

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss39782772HapMap-CEUEuropean 120IG 0.317 0.400 0.283 0.150 0.517 0.483
HapMap-HCBAsian 88IG 0.045 0.955 1.000 0.023 0.977
HapMap-JPTAsian 88IG 0.114 0.886 0.752 0.057 0.943
HapMap-YRISub-Saharan African 120IG 0.033 0.200 0.767 0.317 0.133 0.867

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.325+/-0.23827021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .