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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs518127          
refSNP ID: rs518127
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:G
Clinical Association:unknown
HGVS Names
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 ss688412 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs518127 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
ss688412SC_JCM|AC068712.4_134972byFreqfwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga07/27/0010/25/0683Genomicunknown
ss66782703ILLUMINA|HumanHap300v1.1_rs518127fwd/BA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga11/09/0611/09/06127Genomicunknown
ss67412446ILLUMINA|HumanHap550v1.1_rs518127fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga11/14/0611/14/06127Genomicunknown
ss67776813ILLUMINA|HumanHap650Yv1.0_rs518127fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga11/14/0611/14/06127Genomicunknown
ss70843017ILLUMINA|HumanHap550v3.0__rs518127rev/BC/Ttctgtggccttgctatccagatagctccttctttctgcactcccctctggcctctgacct04/20/0703/31/08130Genomicunknown
ss71427191ILLUMINA|HumanHap650Yv3.0_rs518127fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga04/23/0704/23/07127Genomicunknown
ss75801922ILLUMINA|ILMN_Human_1M_rs518127fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga08/28/0708/29/07129Genomicunknown
ss79206965ILLUMINA|HumanHap300v2.0_rs518127fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga04/18/0711/18/07130Genomicunknown
ss83472710KRIBB_YJKIM|KHS469710fwd/TA/Gaggtcagaggccagaggggagtgcagaaagaaggagctatctggatagcaaggccacaga12/04/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs518127|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TTTCAAAAGC TAAAGGTAGA AGCAGTGGCC TTTGAAACTC AAGAAGAACC AGCCCCTAGC
 ATTGTTTAAG AGGCTATGAA GCAGTAGTGG AGAGCTCTAC GCCCTCTTCC TCACCAGTTT
 ATCCTCAGTA CCTTGCTATC CAAATGGGAG CTTCCCCGAA AACAATCTGG AGGTCAGAGG
 CCAGAGGGGA GTGCAGAAAG
 R
 AAGGAGCTAT CTGGATAGCA AGGCCACAGA GAACACAGGG TGAGGAGAAG AGTGAGGGCT
 GCCTTGTCTG GCAAACTGCC TGGCTGTGGA AATCTGACCT GTGCAAAAAG AAAGCCTGAC
 AGAACTTCTA AGTCAGTTTC CAAGAACAAA TCTATTTTTA GATAACCGTT TCTTTCAGCA
 ACAGACCTCC AGGTGCAGAG

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs518127 maps exactly once on NCBI human chromosome 15
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
15NW_001838218.22086498730326023plusAalt_assembly_8HuRefHuRefview200
15NW_925884.1948873930390922minusTalt_assembly_1CeleraCeleraview200
15NT_010194.162428648751283222minusTref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC068712 AC032018 AC044791
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC044791.6 AC068712.6 NC_000015.8 AC032018.2

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss688412HapMap-CEUEuropean 120IG 0.600 0.367 0.033 1.000 0.783 0.217
HapMap-HCBAsian 90IG 0.222 0.578 0.200 0.200 0.511 0.489
HapMap-JPTAsian 90IG 0.178 0.600 0.222 0.478 0.522
HapMap-YRISub-Saharan African 120IG 0.417 0.517 0.067 0.200 0.675 0.325

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.467+/-0.12427021000

  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 .