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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11658277          
refSNP ID: rs11658277
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/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_024819.3:c.-114-3222A>G
NT_010783.14:g.1769394T>C
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 ss16758696 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11658277 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
ss16758696CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_010783.14_1769394fwd/BC/Tctcagcctcccgagtagctaggattacaggatgcaccaccatgcctggctgatttttttg02/17/0403/04/04120Genomicunknown
ss40848959ABI|hCV11611990fwd/BC/Tctcagcctcccgagtagctaggattacaggatgcaccaccatgcctggctgatttttttg07/17/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11658277|allelePos=501|totalLen=926|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 aagtactggg attacaggcg taaaccacca cgccaagctT CAAGAGCttt tttttttttt
 ttttgagaca gagtctcact ctgttgccca ggctggagtg cagtggtgtg atctcggctc
 actgcaagct ctgcctcccg ggttcacgcc attctcctgc ctcaaactcc cgaatagctg
 ggattacagg tgcccaccac catgcctggc taattttttt gtatttttag tagagatggg
 gtttcaccat gttggtcagg ctggtctcaa actcctgact tcaggtgatc cacccacctc
 ggcctcccaa agtgctggga ttacaggcgt gagccaccat gcctggcctt tttttctttt
 cttttctttt cttgagacaa gagtctctct ctgtccccca gggtggcgtg cagcggtgca
 atctgggccc actgcaatct ctgcctcctg ggttcaagag attgtcctgc ctcagcctcc
 cgagtagcta ggattacagg
 Y
 atgcaccacc atgcctggct gatttttttg tatttttagt agagacgagg tttcaccatg
 ttggccaggc tggctcaaac tcctgacctc aggtgatctg cccacccagg cAGTTCTGAT
 GTGTAACAGC GCTCAGGATA AATTCTAACT CTTCTTTTAC AGCAGTGGAG ACTGAGGACC
 AGAGAAGGGA GGGGACTTCC CACCAGCAGC TATTATCAAA GGCTGGATGC AGTTCAGGGC
 TCCTAACCCC TAGTCTAGAC CCCTGCCTTT AATGTACTCA AGGAATGAAA AATTAATTTA
 CCTTTAGACT AATGAGACAA AGTAAGGAAG ATGAATCTGT TTGTAGGCAA ATCGATTCAG
 AGCCAAAGAG AAATAATTTC TTGATTATCA TACTGTTTTC TTCCTGCAGA ATGGGGGCTG
 AGGGG

  GeneView back to top
GeneView via analysis of contig annotation: DCAKD dephospho-CoA kinase domain containing
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_010783->NM_024819
function
HuRefNW_001838437->NM_024819
function
CeleraNW_926839->NM_024819
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010783->NM_024819->NP_0790951769394reverseintron
HuRefNW_001838437->NM_024819->NP_079095418879forwardintron
CeleraNW_926839->NM_024819->NP_0790951711812reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11658277 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
17NW_001838437.241887938879448minusAalt_assembly_8HuRefHuRefview500
17NW_926839.1171181239824771plusTalt_assembly_1CeleraCeleraview500
17NT_010783.14176939440471115plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010783
dbSNP Blast Analysis

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .