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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4984171          
refSNP ID: rs4984171
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NT_037852.5:g.895960T>A
XM_001125807.1:c.16-19349A>T
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 ss6900072 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4984171 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
ss6900072WI_SSAHASNP|NT_037852.1_783345byFreqfwd/BA/Tggataacatatagtcactattattaattactcgtgataaatgctatggagaaaataaatt02/12/0304/07/04111Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4984171|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=111
 AATTGTTAAA AGACATGATT AGTGATACAA AAACAGGAAC ATTTGGCCAA AGTTTTAAGT
 TTTTTAGATT AAAAAAACCG TGAATCCTGT ATTCTATTTA TTCCAGCATC AAGCACTAAA
 AAATGTGGTT TACCCCTTAT TTAGATACAG AAAGAAGACC CTAAACAGAA GGATAACATA
 TAGTCACTAT TATTAATTAC
 W
 TCGTGATAAA TGCTATGGAG AAAATAAATT GGGGATACAG AAAGTGTAGT TGTAGGGAAG
 GGAGGAGCCG GATGGTCCAG AGATGATTTT AGTAGGAAGA GTTGAGCAAG CGAGGTATGT
 GGGGAACTTC ttctattcag tgggaacagt gagtgcaaag gctttgaggc ggaataggaa
 agttcaagga aaagGCAGTT

  GeneView back to top
GeneView via analysis of contig annotation: BCL8 B-cell CLL/lymphoma 8
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_037852->XM_001125807
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_037852->XM_001125807->XP_001125807895960reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4984171 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_001838150.21829492845plusAalt_assembly_8HuRefHuRefview200
15NW_925650.111993652431plusAalt_assembly_1CeleraCeleraview200
15NT_037852.589596019155960minusTref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
1
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC068446.22 NC_000015.8 AF467807.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/T
HWPA
T
ss6900072HapMap-CEUEuropean 118IG 0.881 0.119 0.655 0.941 0.059
HapMap-HCBAsian 88IG 0.909 0.091 0.752 0.955 0.045
HapMap-JPTAsian 86IG 0.860 0.140 0.655 0.930 0.070
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.079+/-0.18227021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqwith2hitwithHapMapFreq
DoubleHit found by:  NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .