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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1059217          
refSNP ID: rs1059217
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_030777.3:c.*2176T>C
NT_011362.9:g.10417557T>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 ss12491531 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1059217 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
ss1541467LEE|806708fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa09/13/0010/10/0386cDNAunknown
ss3397934SC_JCM|chr_20_47067193fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa09/24/0110/10/03123Genomicunknown
ss8319407SC_SNP|NT_011362.7_10417556fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa04/17/0310/10/03117Genomicunknown
ss12491531WI_SSAHASNP|chr20.NT_011362.8_10417557byFreqfwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa07/04/0305/16/04116Genomicunknown
ss19478493CSHL-HAPMAP|CSHL-HuDD-200402.chr20.NT_011362.8_10417557fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa02/20/0403/04/04120Genomicunknown
ss24548997PERLEGEN|afd4222612byFreqfwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa08/10/0409/13/04123Genomicunknown
ss41374483ABI|hCV3002237fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa07/17/0507/17/05126Genomicunknown
ss46564321IMCJ-GDT|IMCJ-SLC2A10_15-CTfwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa08/02/0508/02/05126Genomicunknown
ss81567583HGSV|Cor18555_SNV_20070510.chr20_44798056fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa11/27/0711/30/07130Genomicunknown
ss91710923BCMHGSC_JDW|JWB-1446774fwd/BC/Tctagctgtacagttatcagggatttttattgtagtctaattttgtcaaatcatggccaaa02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1059217|allelePos=895|totalLen=1664|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GTAGCTATGA CTGCAGATCA TGTAAGGAAG GGACTGACAA GAAGCTCCCA GATGCTGGGG
 AGAATGAAGA GCTAAAATAG ATCCTAGGTG CTGGATGCTT TGTCATCCAT GCGTGCACAT
 ATGGGTGCTG GCAGAGCCCC CAAGGACTCT GGCCTCTCGA GTTCTCCTAT CTTCTCCATT
 CTAGATGCTT CCCTTGTATC cagtgatgtg ctggagctgg ctttgccaag cttgtgagag
 ctggttgcta cattttcagg atttttacaa gttggtaaac acagccatta taaaaaatta
 aatgatttaa atttataatt aagtaaatta cattaaaaca aaaaaattat actcaaaatt
 cattacttaa ttttactacc tgttactatt atctgtgctt ttgaggctat ttctacatag
 taactcttat ggagacctag gggagacacc gcgcatctct tcctgattcc ccactcaatg
 acatcatgtt agtctttggt tgcttaactg gctgtgggga gtgtttttgt atcacaaaga
 ttagagagga ctacacatca gggcttgatt tattgtttgt tgattttcta gacttcagaa
 catgctggat aaaatgtcag taatgcaaat taaactttaa agtatgtctt gtttgtagcc
 aatacatggt gtatagcacc aaaaaatgga gggattattc ttccagtagt tgaacactgt
 catccgtttc agctgacagc tgctcaaatc atttaagaag gagttctgac attcattttc
 attgttttac ttttgtcttc ctcactagtg taaacaaaaa tttcaaccag cattcatgcc
 gaacctatac ccattcttca gtgcctagct gtacagttat cagggatttt tatt
 Y
 gtagtctaat tttgtcaaat catggccaaa tcgcagtgat agttgacttt ggatacaagg
 tttggcaaaa aaaaaaatat taacaaaata ttctgtaaga atcaattgtc tatatggaat
 ttaggataaa gaatatttac aataaagaat atttacaata aagagtttat tattatttgt
 aagttgtgtg caacaaacat accctttatc tctgtaaaat ttataCACAc aaaaattaac
 aaaagattct gtaagaatta attggctata tggaatttag gatagaatat ttacaataaa
 gagtatttac aataaagagt ttgttattat ttgtaaattg tgtgcaacaa acatatcttt
 tatcatagta aaatttacac acacacacac ttttcttccc tggagagctg ttgttaaaca
 tttaccagca cactactgCT TAGAGCTGTG CTTGTGGCCC CTTCAGATCT CTTCTCTCTC
 CAGGGACCCA TAAACCTCAC TCAATTCTCC TTTCCTCTCC TATCAGCCTG GAAGAATGCT
 CTCCTAGTCC TAGGGTGAAT TCTCCACTTT CTTGCTCCAG GTTATAAACT TGgggttcag
 gtagggaata taaatgagtg aagccattta agacattagg gagtagtggg gtctgtggaa
 atggggaaac acagggtctg tctataaggg tgactgaccc tcaattccaa ctggtggctg
 ccatgtgACC CTCAATTCCA ACTGGTGGCT GCCATGTAGG AATGTGGGC

  GeneView back to top
GeneView via analysis of contig annotation: SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
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_011362->NM_030777
svfunction
HuRefNW_001838666->NM_030777
svfunction
CeleraNW_927339->NM_030777
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011362->NM_030777->10417557forward38993' UTR
HuRefNW_001838666->NM_030777->8426739forward38993' UTR
CeleraNW_927339->NM_030777->15579234forward38993' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1059217 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
20NW_927339.11557923442076125plusTalt_assembly_1CeleraCeleraview894
20NW_001838666.1842673942105890plusTalt_assembly_8HuRefHuRefview894
20NT_011362.91041755744798056plusTref_assemblyreferencereferenceview894

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011362 Hs.178603
dbSNP Blast Analysis
GenBank HTGS Finished:
AL031055.1 NC_000020.9
UniGene Cluster ID
305971

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss12491531CEPH 184AF 0.360 0.640
ss24548997AFD_EUR_PANELEuropean 46IG 0.043 0.739 0.217 0.020 0.413 0.587
AFD_AFR_PANELAfrican American 46IG 0.087 0.522 0.391 0.479 0.348 0.652
AFD_CHN_PANELAsian 48IG 0.458 0.417 0.125 1.000 0.667 0.333

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.499+/-0.021715000

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .