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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7002749          
refSNP ID: rs7002749
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
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 ss44901092 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7002749 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
ss10461288BCM_SSAHASNP|chr8.NT_023736.15_6168587fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac06/29/0310/10/03116Genomicunknown
ss15691123SC_SNP|NT_023736.16_6205414fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac11/17/0311/22/03120Genomicunknown
ss17237076CSHL-HAPMAP|CSHL-HuAA-200402.chr8.NT_023736.16_6205414fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac02/17/0403/04/04120Genomicunknown
ss19767257CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_023736.16_6205414fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac02/20/0403/04/04120Genomicunknown
ss22698097SSAHASNP|WGSA-200403-chr8.chr8.NT_023736.16_6205414fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac03/21/0403/21/04121Genomicunknown
ss23331689PERLEGEN|afd1858170byFreqfwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac08/10/0409/13/04126Genomicunknown
ss44901092ABI|hCV32084566byFreqfwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac07/19/0511/03/06126Genomicunknown
ss77539801HGSV|Cor12156_SNV_20070510.chr8_6205414fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac10/09/0710/13/07129Genomicunknown
ss93824023BCMHGSC_JDW|JWB-2417530fwd/TA/Gagcaggagaaaatcttgttgaacacaaatagaccgtctctgtgcagctggtgctgagtac02/26/0803/05/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7002749|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 CTAATGTGAT ACCCTTAGAA ACATATCCCT CCCACATCGT ATTCAGAATT AATGGCTGCC
 TTAAGCCCCA GGAGTGGGGT GCCATGGAGT GGCTTCACAC ACAGCTAACT GCAAGCCTGC
 ATGGGGTCAT GTCGGCTTGA ACTGGGTTCT TCGGATGCAG TACAGCCTTC ACCTATGCGG
 TTGGCCAATC TTGTTATAGA TCCCATTCTT TTGCCTAAAG CTTGCAGCTC AACTCAGAAT
 CAATGAAGGC AAAATATCTG CTTTGCTGGG AGCAGGAGAA AATCTTGTTG AACACAAATA
 R
 GACCGTCTCT GTGCAGCTGG TGCTGAGTAC ACTTGAGGAG TATGTGTCCA TGTGTATTCA
 TGCACACAGA CATACACACA CACTCATGCA TACACAACGA TCACACAAAT CCATCATTTC
 CAGAGCAGAA CATGGACCTG ACTACTAGTA TTCCTACAAA CAGGCTCCCC CACTCCTTCT
 CAGTAGAGTT CAAGATGAAG TGCAGCCTCA GACCACAGTA AAAGGTCTTG TGTGTTGAGG
 GAAGGGAATA TGGTCCTGCC ATCGTCTCTG TCAGGCATCC CATGTCAAAA AGTATAATAA

  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:  rs7002749 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
8NW_001839109.28386296000081minusTalt_assembly_8HuRefHuRefview300
8NW_923840.140144216195518plusAalt_assembly_1CeleraCeleraview300
8NT_023736.1662054146205414plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023736
dbSNP Blast Analysis
GenBank HTGS Finished:
AC011835.8 AC016065.14 AC107943.4 NC_000008.9

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss23331689AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 44IG 0.227 0.727 0.045 0.020 0.591 0.409
AFD_CHN_PANELAsian 46IG 0.435 0.391 0.174 0.479 0.630 0.370
ss44901092HapMap-CEUEuropean 120IG 0.983 0.017 1.000 0.992 0.008
HapMap-HCBAsian 90IG 0.489 0.422 0.089 1.000 0.700 0.300
HapMap-JPTAsian 88IG 0.318 0.545 0.136 0.403 0.591 0.409
HapMap-YRISub-Saharan African 120IG 0.333 0.567 0.100 0.150 0.617 0.383

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.386+/-0.21033226090

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .