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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs330749          
refSNP ID: rs330749
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
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
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 ss43987489 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs330749 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
ss422491KWOK|OVLP-000621-303382fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat06/30/0010/10/0379Genomic99 %
ss642365SC_JCM|AL138928.3_88005rev/BC/Tatttcattgattttggctttatcagccggaaaatggaggtaagtttaaagctaatggatc07/27/0005/28/0485Genomicunknown
ss2023376KWOK|OVLP-000925-619289rev/BC/Tatttcattgattttggctttatcagccggaaaatggaggtaagtttaaagctaatggatc10/06/0010/10/0387Genomic99 %
ss2023531KWOK|OVLP-000925-620181fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat10/06/0010/10/0387Genomic99 %
ss12998198SC_SNP|NT_004487.15_16029812fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat10/22/0310/31/03119Genomicunknown
ss16432646CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004487.16_16285272fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat02/17/0403/04/04120Genomicunknown
ss20514380SSAHASNP|WGSA-200403-chr1.chr1.NT_004487.16_16285272fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat03/18/0403/18/04121Genomicunknown
ss23189076PERLEGEN|afd1142712byFreqfwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat08/10/0409/13/04123Genomicunknown
ss43987489ABI|hCV910453byFreqfwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat07/18/0511/03/06126Genomicunknown
ss66584699ILLUMINA|HumanHap300v1.1_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat11/09/0611/09/06127Genomicunknown
ss67293889ILLUMINA|HumanHap550v1.1_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat11/14/0611/14/06127Genomicunknown
ss67697840ILLUMINA|HumanHap650Yv1.0_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat11/14/0611/14/06127Genomicunknown
ss70772496ILLUMINA|HumanHap550v3.0__rs330749rev/BC/Tatttcattgattttggctttatcagccggaaaatggaggtaagtttaaagctaatggatc04/20/0703/30/08130Genomicunknown
ss71347989ILLUMINA|HumanHap650Yv3.0_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat04/23/0704/23/07127Genomicunknown
ss74918627ILLUMINA|ILMN_Human_1M_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat08/28/0708/29/07129Genomicunknown
ss79160806ILLUMINA|HumanHap300v2.0_rs330749fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat04/18/0711/18/07130Genomicunknown
ss81281528HGSV|Cor18507_SNV_20070510.chr1_183968821fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat11/26/0711/29/07130Genomicunknown
ss83429392KRIBB_YJKIM|KHS459558fwd/TA/Ggatccattagctttaaacttacctccattttccggctgataaagccaaaatcaatgaaat12/04/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs330749|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GACTGTGATT AATGTGGACA GATTGACCTG TTTCAATATT TAGTGTGGAT CAGAAGGGTG
 CATTATCACA ATGTCTTATG AGCAAATGAC TCAAGCTGGA CATGGATAAA AGATTTTAAT
 TAAGGAGATA ATCATTAAGG AACATCTCCT ACTACTTCCT TTCTCTGGTA ACAAATGCTG
 CCCTCCAACC TGAGCCTTAG GCTGCCTTTC CCTCCAGTGT TTTGAATGTT GGCATCTAAG
 GAACAGTGGA ATGGGAAATA TTTCTTTGAA GATCCATTAG CTTTAAACTT ACCTCCATTT
 R
 TCCGGCTGAT AAAGCCAAAA TCAATGAAAT TGGAGAGCAT TCCTTAAAGG GCTGTTTGTT
 TACTCATACT TCTGGCTGTG GAGATGACTT ACAGGACAGA TGGAGACCAA GTTAGGTTAG
 AAGTGCTTAA TATTGGGTTG TACTGTCTGC ATTCAATATG AACTTGTGTA AGGTAGTTGT
 GAGGTTGTGT TCAAGGTTTT TCACTATAGC ATAAGGAAAG GAAAAAAACC TAATATAACA
 AACCTCAGAT CTTACCTATA AAATTATGTT ATTTGCAAGG TAAGAATATT GTTATCTAAT

  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:  rs330749 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_001838533.218633711158471540minusTalt_assembly_8HuRefHuRefview300
1NW_926128.125602321160347562plusGalt_assembly_1CeleraCeleraview300
1NT_004487.1837727518185503787plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004487 AC025702 AL138928.4 AL391065.4
dbSNP Blast Analysis
GenBank HTGS Finished:
AL391065.6

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss23189076AFD_EUR_PANELEuropean 48IG 0.583 0.333 0.083 0.655 0.750 0.250
AFD_AFR_PANELAfrican American 44IG 0.500 0.455 0.045 0.527 0.727 0.273
AFD_CHN_PANELAsian 46IG 0.913 0.087 1.000 0.957 0.043
ss43987489HapMap-CEUEuropean 120IG 0.450 0.500 0.050 0.150 0.700 0.300
HapMap-HCBAsian 90IG 0.711 0.289 0.273 0.856 0.144
HapMap-JPTAsian 88IG 0.795 0.205 0.479 0.898 0.102
HapMap-YRISub-Saharan African 120IG 0.450 0.450 0.100 1.000 0.675 0.325

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.345+/-0.23133226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreq
Validated by: PERLEGEN
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .