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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs5911062          
refSNP ID: rs5911062
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NT_011786.15:g.4395505T>A
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 ss8183994 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5911062 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
ss8183994SC_SNP|NT_011588.11_4289801fwd/BA/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca04/16/0310/10/03114Genomicunknown
ss18033445CSHL-HAPMAP|CSHL-HuCC-200402.chrX.NT_077819.3_4395505fwd/BA/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca02/19/0403/04/04120Genomicunknown
ss21018734SSAHASNP|WGSA-200403-chrX.chrX.NT_077819.3_4395505fwd/BA/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca03/19/0403/19/04121Genomicunknown
ss43631359ABI|hCV29755552fwd/A/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca07/18/0507/18/05126Genomicunknown
ss77422261HGSV|Cor12156_SNV_20070510.chrX_119909677fwd/A/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca10/09/0710/12/07129Genomicunknown
ss85192238HGSV|Cor19129_SNV_20070510.chrX_119909677fwd/A/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca12/06/0712/08/07130Genomicunknown
ss85367481HGSV|Cor18517_SNV_20070510.chrX_119909677fwd/A/Tgtcccagaaaaaaaccacttgggctccctgttggagtctggctggctctgagcattgcca12/06/0712/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs5911062|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=130
 TTTTAGAATA GAATAAGTAC ATGCTGCTGT AATAAAATTG CCTTTAATCA CTTAACAAGC
 CTAACCTTGA CTCAGTGAAT GCCTATAAAA ATAATAAATG AAAAAAAACA GTATTTTTAT
 ATCATAAAAG TTTCATTTGT AGCTTATCAT TCACGTATTG TTGTCCAGCA AACATTAAAA
 GCCCTGTGGA TAATTACGTT ATCTTCATAC CTGCAAAACG GTGGAGGCTA TTTTCGTTAA
 AACTGTCAGA ATTCGCTGTT ATAATTATGA CACATAGTCC AAAGAATGCA GTAACCTTTT
 TATCATGTTA ACTAATTGTT CTCTTTTGAA GATCTATGGT TGACTAATTA AACAATAATT
 CAAGTAGAGT GTCCCAGAAA AAAACCACTT GGGCTCCCTG
 W
 TTGGAGTCTG GCTGGCTCTG AGCATTGCCA ATGGCCCCTA CTCACCTGAC TTTGTATCCT
 CTTCTTTTAG AGGCTTTGCA TTCTGCACCC AGCTTCACTA ACAGTGGGCT GAAACCAACC
 TTGGGTTGAG TGTTTCATTT GGGAGTTATT TGGCCAGGGC CTTTTGAACA ATAGTGTCCC
 CATGAAGTGC TAGATAATAT ATGTGTAAGA ATCAGCTTTT TTTTTTTTAA CTATAATATC
 CTTCAGAAAT TTCTAACTAC TTTGTAACTG CATGGCTTAA CCTGGTGATA AAAGCAGTTA
 TTAAAAGTCT ACATTTTTTT TTAAAAAAAG AATAGAACAA ATAATGGGAG CATTGGGTTG
 ACCTTTGCAA ATTATCTAGT TTTATTTACC TATTTTACAC

  GeneView back to top
GeneView via analysis of contig annotation: GLUD2 glutamate dehydrogenase 2
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_011786->NM_012084
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011786->NM_012084->NP_0362164395505forward3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs5911062 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
XNW_001842397.1356213109562363plusAalt_assembly_8HuRefHuRefview400
XNT_011786.154395505120011823plusTref_assemblyreferencereferenceview400
XNW_927721.1771382120565807plusAalt_assembly_1CeleraCeleraview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077819
dbSNP Blast Analysis
GenBank HTGS Draft:
BX294172.3 BX469940.2
UniGene Cluster ID
500409

  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 .