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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs887447          
refSNP ID: rs887447
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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_024728.1:c.122-4521G>A
NT_007819.16:g.39704983G>A
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 ss10398281 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs887447 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
ss1315517TSC-CSHL|TSC0155766fwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta09/06/0010/10/0386Genomic95 %
ss10398281BCM_SSAHASNP|chr7.NT_007819.13_39508141byFreqfwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta06/29/0304/07/04116Genomicunknown
ss11888217WI_SSAHASNP|chr7.NT_007819.13_39508141fwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta07/04/0310/10/03116Genomicunknown
ss14686336WI_SSAHASNP|chr7.NT_007819.14_39508141fwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta11/05/0311/22/03120Genomicunknown
ss20314046CSHL-HAPMAP|CSHL-HuFF-200402.chr7.NT_007819.14_39508141fwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta02/21/0403/04/04120Genomicunknown
ss44824013ABI|hCV8304597fwd/TA/Gaatgatacttcactcttgttcacaaatgtatataatttataatttatcttttaattttta07/19/0507/19/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs887447|allelePos=1263|totalLen=1497|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TCGGGCTGTC ATTTATCTTC TAATTGTGTT CATGGTATCT TTCACTGTAG TGCGTTTAAA
 tttttttttt tttcgagaca gagtctcact ctgtctccca ggctggagtg tagtggtgca
 atctcggctc actgcagcct ctgcctcccg ggttcaagcg attctcctgc ctcagccccc
 ctagtagctg ggattacagg tatgcaccaa catgcccagc tgctttttgt attttcagta
 gagacagggt ttcgccatgc tggccaggct ggtctctgac tcctgacctt aagtgatccg
 cctgcctcct cctcccaaag tgctgggatt acaggtgtga atcaccgcac ctggACtgtg
 tttcttttta aagacaactt attgatttca ttaacaccct attgattcat taacattgaa
 ctcatgatct gcagcactat aactcatgcc tgaatgaagc ttatctaaca atgtattttc
 tccataaggc acatcatggc cttcttatgc ttgggaacac tagacagcac tatgcttctg
 ggccataaac agtgagatca ccaacaaaaa gcacaaaaat gttaaaaacg taacattaaa
 tatactgcaa gaggacactt gtttatagta tgagaggtga aacaagtatc accttgttca
 acctcagctg ggaacatgca caatgaccta ctcaaatttt cctgcatctg tgcatgtctg
 ggaatgaccg tgaaagctcc acatgtattg attttggggt tacaaataaa ttttagtgag
 taggctgggc gtggtggctg gctcatgccg gtaatgccag cactgtggga ggctgaggtg
 gatggatcac ctgagatgag gcgttggaga tcagcctggc caacatggcg aaaccccgtc
 tctactaaaa gtacaaaaaa cagcgggaca tggtggcaca tgcctgtaat cttagctact
 tgggaggctg aggcaggaga atcacttgaa cccgggaggt ggaggttgca gtgagctgag
 atcactccag cctgggtgac agagcaagac tccatctcaa aagaaaaaaa aaaaaaattt
 agtgagtagt caaattccca aatacagaat ctgAGTATTA ACTGTAATTC CTCTGTGGTG
 CTGCTGCCAT GTGTACAATG AGTCAGTAAA AGCTTCATAG TGGAAATATT TATCAAAACA
 CTGCAGGGGG CTGTATAGCA GGAGATACAC AGAATGATAC TTCACTCTTG TTCACAAATG
 ta
 R
 tataatttat aatttatctt ttaattttta aaatCAAAGT TTTAGGTATA CTTGGTTTTA
 AAACTTCAGA AGTTCTGCAG TGTTAATTAT GAAGAAGAGT AACCCCTTAT GCCTTTCTGC
 CCCTTCCCTT TGCCCAGAGA TAACAAATTT CAATTCTTTT TGCCTTTTTT TTCTGCCAAA
 TTGCTAAATA ACCTGATTAT AATGTTATTG ATTATTTTGT TTTTTTTTTA AGGC

  GeneView back to top
GeneView via analysis of contig annotation: C7orf10 chromosome 7 open reading frame 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_007819->NM_024728
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007819->NM_024728->NP_07900439704983forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs887447 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839004.191585940099937plusGalt_assembly_8HuRefHuRefview1262
7NT_007819.163970498340182550plusGref_assemblyreferencereferenceview1262
7NW_923240.13337670940205844plusGalt_assembly_1CeleraCeleraview1262
7NT_079592.24020545640255456plusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view1262

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007819 AC025536.3 AC074279.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss10398281HapMap-CEUEuropean 116IG 0.155 0.466 0.379 1.000 0.388 0.612
HapMap-HCBAsian 88IG 0.136 0.636 0.227 0.100 0.455 0.545
HapMap-JPTAsian 84IG 0.143 0.429 0.429 0.752 0.357 0.643
HapMap-YRISub-Saharan African 120IG 0.467 0.383 0.150 0.254 0.658 0.342

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.499+/-0.02427021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .