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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9933822          
refSNP ID: rs9933822
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:G
Clinical Association:unknown
HGVS Names
NM_001083614.1:c.1352+1376C>T
NT_010393.15:g.14852526G>A
Links , Linkout

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 ss13772886 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9933822 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
ss13772886BCM_SSAHASNP|chr16.NT_010393.14_14851780fwd/TA/Gaggaacaaggctctcaccagacactgaatcgcggcaccttgaccctggagttctagcctc11/05/0311/22/03119Genomicunknown
ss85948083HGSV|Cor18956_SNV_20070510.chr16_23446948fwd/TA/Gaggaacaaggctctcaccagacactgaatcgcggcaccttgaccctggagttctagcctc11/30/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9933822|allelePos=501|totalLen=812|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 tcactgcaag ctccgcctcc cggattcacg ccattctcct gcctcagcct tccgagtagc
 tgggactaca ggcgcccacc accacacccg gctaaatttt tgtattttta gtagagacgg
 ggtttcaccg tgttagccag gatggtcttg atctcctgac ctcgtgatcg gcccgcctgg
 gcctcacaaa gtgctgggat tacaggcgtg agtcaccgcg cccagcAAAG GATGATCGTT
 CTTACTGCAT CATCTctatg ttcggaatgt ttgtgttccc ctaaattcat atgttgaaat
 tttaaccccc aaggggacag tattcacagg tgtgggcttt gggaggtgaa caggtcatgc
 aggccgagcc cttatgcaca gatgagtgcc tttataaaag acaccccaga gagtccctcg
 tccctccacc acgtgaggat gcagcgaagg gctggaaaag ggaagggccc aggaacaagg
 ctctcaccag acactgaatc
 R
 gcggcacctt gaccctggag ttctagcctc tagatctgtg agaaataaat gtctgttgtt
 gaagccacca gtctatgtta ttttgctata gcaaccccat ggactgagac aATTATTAAC
 TGGGTCACAT GAGTACTGCT ATTTACAAAA ATCAGGAGAT GAAATACTGA AGACAAAAAA
 TATAATGTGG GAAAAAAGCA GACACTCTCC CCAATGGCAC TGCAGGGAAG CAGGCTGCCG
 AGGAGCTGAT GAAACAATGA CAGGCCCCAG GCCGGGAACA ATGGCAGTTC CAGACCTGCT
 AGAGCTGGCC C

  GeneView back to top
GeneView via analysis of contig annotation: EARS2 glutamyl-tRNA synthetase 2, mitochondrial (putative)
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_010393->NM_001083614
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_001083614->NP_00107708314852526reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9933822 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_001838401.16986621630107plusGalt_assembly_8HuRefHuRefview500
16NW_926217.183782422317620plusGalt_assembly_1CeleraCeleraview500
16NT_010393.151485252623446948plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceG/G
HWPG
ss13772886HapMap-CEUEuropean 114IG 1.000 1.000
HapMap-HCBAsian 86IG 1.000 1.000
HapMap-JPTAsian 84IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
18015000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
withHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .