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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs493052          
refSNP ID: rs493052
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_004451.3:c.326-3043A>G
NT_033903.7:g.9384175A>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 ss1708278 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs493052 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
ss662840SC_JCM|AP001380.2_88911rev/BC/Tcctggccggctggctcactgttcttcagaggggaagggtgcacaaagtttaagattggtg07/27/0010/10/0383Genomicunknown
ss1708278KWOK|OVLP-000925-562958byFreqfwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg10/05/0010/25/0687Genomic99 %
ss1708610KWOK|OVLP-000925-569616fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg10/05/0010/10/0387Genomic99 %
ss6818246WI_SSAHASNP|NT_033241.3_83090fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg02/12/0310/10/03111Genomicunknown
ss12126822WI_SSAHASNP|chr11.NT_033903.5_9179635fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg07/04/0310/10/03116Genomicunknown
ss15446376SC_SNP|NT_033903.6_9251422fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg11/14/0311/22/03120Genomicunknown
ss19904137CSHL-HAPMAP|CSHL-HuFF-200402.chr11.NT_033903.6_9251422fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg02/21/0403/04/04120Genomicunknown
ss20784718SSAHASNP|WGSA-200403-chr11.chr11.NT_033903.6_9251422fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg03/19/0403/19/04121Genomicunknown
ss23630714PERLEGEN|afd4122465byFreqfwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg08/10/0409/13/04123Genomicunknown
ss38706557ABI|hCV8376443fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg07/16/0507/16/05126Genomicunknown
ss52974257EGP_SNPS|ESRRA-006933byFreqfwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg06/06/0612/16/06127Genomicunknown
ss65835857KRIBB_YJKIM|KHS11649byFreqfwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg10/17/0612/16/06127Genomicunknown
ss75291256ILLUMINA|ILMN_Human_1M_rs493052fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg08/28/0708/29/07129Genomicunknown
ss79945934HGSV|Cor18507_SNV_20070510.chr11_63834956fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg11/23/0711/24/07130Genomicunknown
ss88618610BCMHGSC_JDW|JWB-0434532fwd/TA/Gcaccaatcttaaactttgtgcacccttcccctctgaagaacagtgagccagccggccagg02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs493052|allelePos=1366|totalLen=3026|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGCTGACATT AAGCATTGCC TGGGAAGGGC CTATTATTTC CGTTATTTCT GCTTTTATGT
 AACCATTGGT TACTTTGGGG GCTATAACAC Gtataattaa aaaaaaaaaa aaaaaggcca
 agtgtggtgg ctcacacctg taatctcagc actttcggag gctaagatgg gaggatcaca
 aggtcaggag ttcgagacca gcctggccaa catggtgaaa ccctgtctgt actagaaata
 caaaaattag ccaggtgtcg tggtgggtgc ctgtagtccc agctactcag gaggctgagg
 caggagaatt gctggaaccc aggaggcaga ggttggagtt agccaagatc gtgccactgc
 actcccagcc tgggtgacag agtgagagtt cgtatcaaaa aaaaaaaaaa aaaaaaaaTC
 ttgagtgctt accttgtgct aggcactgta ttcttttatg atctcagtta gtccccacag
 caaccctata aggtgtcagt actgttatAA CTGAAACTAA GAGAGGCATT TGAAACTTTG
 TTGAAGTCTC ACAACTAGGA AATGGCAGAA CCAAGATTTG AACTTGGGTC AGTATAGGTC
 CAGAGCTGAG CTCTTCAATG TTAGACTGCT TCCTCTGCTT ATTACTAATA ACACCGAACT
 TTGGACAGAC GCTGAATGAC TGATTGTGAC ATTCCAGCAC Gttttttttt ttttttttga
 gacagtctcg tgtggtcgcc caggctggag tgcagtggca cgatctcggc tcactgcaag
 ctccgcctcc cgggttcaca ccattctcct gcctcagcct cctgagtagc tgggactaca
 ggtgcccgcc accacgcctg gctaattttt tgtactttta gtagagacgg ggtttcagcg
 tgttagccaa gatggtcttg atttcctgac ctcgagatcc acctgccttg gactcccaaa
 gtgctgggat tacaggcgtg agccactgct cctggccAGG tttttttttt tttttttttt
 gagatggagt tttgctcttg ttgtccaggc tggagtgcaa cggcctgcag tcgtggttca
 ctgcaacctc tgcctcccgg gttcaagcca ttcacctgcc tcagcctccc aagtagctgg
 gattacaggc gcctgccacc atgcccggct aatttttgtg tttttagtag ggatggggtt
 tcaccatgtt ggccaggctg gcctcaaact cctgacctca ggcgatctgc cctcctcggg
 cttccaaagt gctgggatta taggtgtgag ccactgcacc ccgccAATCC AGCAAGTTTT
 AACTTGGCCA AAATCCACCA ATCTTAAACT TTGTGCACCC TTCCC
 R
 CTCTGAAGAA CAGTGAGCCA GCCGGCCAGG GTGCGGGTAT CTCCTACCTA CCCTGGGGCC
 CCTCACTGTA TGTTGACTAT TGACAAATAT TTATTGTGTG CTGGCTGTGA ATAGGACTTG
 TAtattgagc acttaggtgt catgaaccat gctggatgtt ttgaccatat tatccccttt
 aattctcacg acccaactct gtggggcact tttacagctg ggaaactgag ggttcaaggg
 gttaggtatg ggacttgccc aaggtcataa aggtatgtgg tagCCAGAGT CCCTGTTCGG
 CACAGACCTG TTCTTTGCtg tcctggccag tgttccaggc cttggggaca tagctggggc
 tgaagcaggg ctgtttctgc cctcaggcag tttacatcct ggcagagggg aGAGCTGGGC
 AACAGTGAGT TGCACAGACT TGTCTTATTA CCGCTGTGGT ATGTGCAGGA AGGGGAGGTG
 CTGGTTCTGA GGCTCCAGAG GGCTTGTCtt tttttttttt ttttgagacg gagtctcgct
 ttgttgccca ggctagagtc cagtggcgcg atctcggctc agtgcaagct ccgcctcccg
 ggttcaagcg attctcctgc ctcagcctcc ccaatagctg ggattacagg cgcatggcac
 cacgcacggc taattttggt atttttagta gagactgggt ttcaccatgt tagccaggat
 ggtctcgatc tcctgacctc gtgatccacc cgcctcggcc tcccaaagtg ctgggattac
 GCTCCCGGCC TCtttttttt tttagacaga gtctcactct gttgccaggc tatagtacag
 tggcacgatc tcagcttact gcaacctccg cctcccaggt tcaagcgatt gttctccctc
 agcctcccga gtagctggga ctacaggcac acgcccagct aatttttgta tttttagtag
 agacagggtt tcaccgtgtt ggtcaggctg gtctcaaact cctcacctcg tgatctgcct
 gcctcggcct cccaaagtgc tgggattata ggcgtgagcc actgcgcctg gccttttttt
 tttttttttt ttttttttgg tacagagttt cgctctggtt gcccaggctg gagtgcaatg
 gcacgatctt ggctcactgc agcctctgcc tcccgggttc aagcgattct cctgcctcag
 cctccggagc agctgggatt acagacatgc accaccatgc ccggctaatt tttttttttc
 gagatggagt ctcactgtgt cacccaggct ggagtgcagt ggcacaatct cggctcactg
 caacctctgc ctcccgggtt caagcgattc tcctgcctca gcctcctgag tagctgggac
 tacaggtgcc tgccaccaca cccagctaat ttttgtactt ttagtagaga cggggtttta
 ccatgttggc caggctggtc ttgaacttct gacctcaggt gatccaccca cctcggtctc
 ccaaagtgct gggattacag gcgtgagcca ccgtgcccgg ccGTGGTGTC TTGAGCTGAG
 TGCAGAAGCG CAAATAGGGG GTAGGAGAAA ATGCACCGCG AGGAGAAATG TGCTGCGGGC
 CTGCTGTCTA GCTGTGTCAT TTGGTCGTTG CGGGGCCCTG

  GeneView back to top
GeneView via analysis of contig annotation: ESRRA estrogen-related receptor alpha
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_033903->NM_004451
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_033903->NM_004451->NP_0044429384175forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs493052 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838024.1317789460406110plusGalt_assembly_8HuRefHuRefview1365
11NW_925106.1975252961404453plusGalt_assembly_1CeleraCeleraview1365
11NT_033903.7938417563834956plusAref_assemblyreferencereferenceview1365

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033903 AC005848 AP000573 AP001380.2 AP001453 AP001453.2
dbSNP Blast Analysis
GenBank HTGS Finished:
AP001453.6

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1708278HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 0.200 0.800 0.479 0.100 0.900
HapMap-JPTAsian 88IG 0.114 0.886 0.752 0.057 0.943
HapMap-YRISub-Saharan African 120IG 0.167 0.533 0.300 0.527 0.433 0.567
ss23630714AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.217 0.478 0.304 1.000 0.457 0.543
AFD_CHN_PANELAsian 48IG 0.042 0.958 1.000 0.021 0.979
ss52974257EGP_YORUB-PANELSub-Saharan African 22IG 0.364 0.545 0.091 0.584 0.636 0.364
EGP_HISP-PANELHispanic 42IG 0.095 0.905 1.000 0.048 0.952
EGP_CEPH-PANELEuropean 42IG 1.000 1.000
EGP_AD-PANELAfrican American 28IG 0.143 0.429 0.429 1.000 0.357 0.643
EGP_ASIAN-PANELAsian 38IG 0.316 0.684 0.439 0.158 0.842
ss65835857KHP1 168AF 0.131 0.869 0.527 0.065 0.935

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.249+/-0.250355283810

  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
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .