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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11859827          
refSNP ID: rs11859827
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001014449.1:c.-168+8224C>G
NM_001014451.1:c.58-5031C>G
NM_007242.4:c.58-5031C>G
NT_010498.15:g.23955680C>G
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 ss17554299 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11859827 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
ss17554299CSHL-HAPMAP|CSHL-HuCC-200402.chr16.NT_010498.14_19063007fwd/BC/Gagatggggtttcatcatgttgcccacagtgtctcgaactcctgagctcaggcaatccatc02/19/0403/04/04120Genomicunknown
ss35409626SSAHASNP|TA-079.chr16_68898982fwd/C/Gagatggggtttcatcatgttgcccacagtgtctcgaactcctgagctcaggcaatccatc03/11/05125Genomicunknown
ss40681573ABI|hCV11518495rev/C/Ggatggattgcctgagctcaggagttcgagacactgtgggcaacatgatgaaaccccatct07/17/0507/17/05126Genomicunknown
ss80644836HGSV|Cor18507_SNV_20070510.chr16_68898982fwd/C/Gagatggggtttcatcatgttgcccacagtgtctcgaactcctgagctcaggcaatccatc11/23/0711/26/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11859827|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 ttccattgtg tggatatacc acattttatt tatccactta tcaatttctg gacatttgga
 ttatttctac tttttagcta ctatgaataa tactgctttt gattaatgta caagtttttg
 tgtggacata tagtttcaat actcgggtat atatctagaa gtgggactgc tggattatat
 agtaattctg tatttaactt ttgagaaagt gccaggatgt tttccaaagc agctgcatca
 ttAATCTTTA AGATTAATAT TGTCTATGAA ATAATATGTC tttttttatt ttttattttt
 tggagacaag agtctcgcac tgtctcccag gctggagtgc agtggcacca tctcggctca
 ctgcaacctc tgcctcccgg gtttaagcga ttctcatgcc tcagcttcct aagtaggtgg
 gattacaagc acgtgccacc atgcccagcc aatttttcat atttcagtag agatggggtt
 tcatcatgtt gcccacagtg
 S
 tctcgaactc ctgagctcag gcaatccatc catctcggcc tcccaaagta ctaggattac
 aggcgtgagc catcacatct ggccAtatgt atatatatgt gtgtgtgtgt gtgtgtatgt
 atatatgtgt gtgtgtgtat ATATGTGTGT Atttttttta atagagatgg ggtctcattc
 tgtcacccag gctggaatgc agtggcaaga tcatagcaca ctgtaacctg gaactcctgg
 gctcaagcaa tcctcccacc tcagcctccc tggtagctgg gactatgggc acataccacc
 atgcccagct aatatattta tttattttat tttaaaattt atttaaattt attatttatt
 tatGTAttta tttttattta tttatttatt ttgagacgga gtctcactct gctgccaagg
 ctggagtgca gtggcaccat gtcggctcac tgcaacctct gtctcctggg ttcaagtaat
 tctcctgcct cagcctcctg

  GeneView back to top
GeneView via analysis of contig annotation: DDX19B DEAD (Asp-Glu-Ala-As) box polypeptide 19B
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_010498->NM_001014449
svfunction
referenceNT_010498->NM_001014451
svfunction
referenceNT_010498->NM_007242
svfunction
HuRefNW_001838295->NM_001014449
svfunction
HuRefNW_001838295->NM_001014451
svfunction
HuRefNW_001838295->NM_007242
svfunction
CeleraNW_926473->NM_001014449
svfunction
CeleraNW_926473->NM_001014451
svfunction
CeleraNW_926473->NM_007242
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010498->NM_001014449->NP_00101444923955680forwardintron
referenceNT_010498->NM_001014451->NP_00101445123955680forwardintron
referenceNT_010498->NM_007242->NP_00917323955680forwardintron
HuRefNW_001838295->NM_001014449->NP_001014449521757reverseintron
HuRefNW_001838295->NM_001014451->NP_001014451521757reverseintron
HuRefNW_001838295->NM_007242->NP_009173521757reverseintron
CeleraNW_926473->NM_001014449->NP_001014449510025reverseintron
CeleraNW_926473->NM_001014451->NP_001014451510025reverseintron
CeleraNW_926473->NM_007242->NP_009173510025reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11859827 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_926473.151002555186703minusGalt_assembly_1CeleraCeleraview500
16NW_001838295.252175756174155minusGalt_assembly_8HuRefHuRefview500
16NT_010498.152395568068898982plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010498
dbSNP Blast Analysis
GenBank HTGS Finished:
AC012184.7 AC093491.3 NC_000016.8

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .