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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10399878          
refSNP ID: rs10399878
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
Links

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 ss87158966 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10399878 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
ss14687582BCM_SSAHASNP|chr1.NT_077913.2_243664byFreqfwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag11/10/0303/31/08119Genomicunknown
ss19147543CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_077913.2_243664fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag02/20/0403/04/04120Genomicunknown
ss19868456CSHL-HAPMAP|CSHL-HuFF-200402.chr1.NT_077913.2_243664fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag02/21/0403/04/04120Genomicunknown
ss20525340SSAHASNP|WGSA-200403-chr1.chr1.NT_077913.2_243664fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag03/18/0403/18/04121Genomicunknown
ss65744781ILLUMINA|Human1-rs10399878fwd/BA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag10/10/0610/10/06127Genomicunknown
ss74884271ILLUMINA|ILMN_Human_1M_rs10399878fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag08/28/0708/29/07129Genomicunknown
ss77791326HGSV|Cor12156_SNV_20070510.chr1_1279876fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag10/09/0710/14/07129Genomicunknown
ss85118518HGSV|Cor19240_SNV_20070510.chr1_1279876fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag11/30/0712/08/07130Genomicunknown
ss87158966BCMHGSC_JDW|JWB-0000614fwd/TA/Gctgcactactgcagcccatccaggtctggccccatgcactgtgggacagggtgggggcag02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10399878|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CCCGCCCCCC CAACCCCAGG CAGGCAGAGG CAGCCGCTGC TGTGCCCTCG GGGAAGAAGG
 CTGGACCAGC CTCTCCCAGG ACAGCCGGCC GCTGGGAGTC CCTCAGGGAC AGTGCCCACC
 AAGGGCTGAG CCAGCCTCAC CCGCCTCTCC TCTAGGAGTT CAGAGTCAAC CCTGGACCCA
 TCTGGAGCCC CTCAACCCTG CGGCACCTCC CCTCACCCCA CTGCACTACT GCAGCCCATC
 CAGGTCTGGC
 R
 CCCATGCACT GTGGGACAGG GTGGGGGCAG TAGGGCAGCT GCTCTCGGTC CTGGCAGCAC
 CAGGAGGACC CAGACCAGCT GGGGAGAGAC GCCCCCGGCT CCCCCAACCT CACAGCTGCA
 AGCGGCATGG TCCGCTGGAA AGACGGGTAG GCCATCCTCC TCAGAGCCCA CTCCCACCAG
 GACAGCCTGA CAGTGGGGCT GCCTGGGGAG AGAAGAGTTA AGGCATGACA TCACCAGAGA
 AGCCTCGGCG

  GeneView back to top
GeneView via analysis of contig annotation: CENTB5 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
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
CeleraNW_921350->NM_030649
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
CeleraNW_921350->NM_030649->NP_0851521341188forward5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10399878 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_001838585.1491956511203plusGalt_assembly_8HuRefHuRefview200
1NT_004350.187185851229816plusAref_assemblyreferencereferenceview200
1NW_921350.113411881341188minusCalt_assembly_1CeleraCeleraview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077913
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:GenBank mRNA:
AL139287.24 AL732582.4 AB051503.1
UniGene Cluster ID
535257

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss14687582HapMap-CEUEuropean 116IG 0.086 0.914 0.043 0.957
HapMap-HCBAsian 90IG 0.044 0.156 0.800 0.122 0.878
HapMap-JPTAsian 88IG 0.068 0.364 0.568 0.250 0.750
HapMap-YRISub-Saharan African 116IG 0.052 0.259 0.690 0.181 0.819

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.246+/-0.25027021000

  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 .