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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9680703          
refSNP ID: rs9680703
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:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_032775.2:c.228-5803C>G
NT_011520.11:g.222174G>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 ss13479543 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9680703 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
ss13479543WI_SSAHASNP|chr22.NT_011520.9_222174fwd/BC/Gggttgaggcatgagaatcacttgaacctggaggcggaggttgcagtgagctgatatcgca10/31/0311/10/03119Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9680703|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=119
 cctgcctcag cctcccaagt agctggaatt ataggcatgt gccaccacgc ctggctattt
 tgtattttta gtagagacag ggtttcacca tgttggtcag actggtctcg aactcctgac
 ctgatgtgat ccacccacct cggcctccca tagtgctgga ttacaggtgt gagccaccac
 gtctggccGG ACACAAACTT TTACCATTTT AAGAAAAAAA AAAATCTTAT AATCctttcg
 ggggccaagg caggaagact gcttgaggcc aggactttaa gattagactg ggcagccagg
 caccatggct cacacctgta atcccagcac tttgggaggc cgaggtgggc agatcacttg
 aggccaagag ttcgagacca gtctggccaa catggtgaaa cctcatctct actaaaagta
 caaaaattag ctgcatggtg gtgcacacct gtaatctcag ctacttgggt ggttgaggca
 tgagaatcac ttgaacctgg
 S
 aggcggaggt tgcagtgagc tgatatcgca ccactactct gtgacagagc aacactgtgc
 ctcaaaagaa aaagaaaaag aagggaaaaa aaaagaccag atggggcaac acagaaagac
 cccatctctt aaaaaaaatt agctgggcat ggtggcacgc atccataatt ccatcaattt
 gaaatgctga ggtgggagtg ttgcttgagc ccagtatttt gaggctgcag tgagctatga
 tgacaccatt gcccagcctg ggcaaaaaag tgagactctg tctcttaaaa aacaaaacaa
 cacaaaaaaG TTCACTGCAT GGATCATGAA TGGAGGGAGG AGAAAGAAGA TATGAGACAT
 TGTGGGTGCA ATTAGGAAAA TCTGAACGTG GACTCAATGT CAGATGAAAT TATAGAATGA
 TTACACATTT Ctttttcatt tttatgtttt tagagacagg gttgctacgt tgctcaagtt
 ggacttaaac tcctgtgctc

  GeneView back to top
GeneView via analysis of contig annotation: KLHL22 kelch-like 22 (Drosophila)
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_011520->NM_032775
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011520->NM_032775->NP_116164222174reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9680703 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
22NW_001838740.26420714095698minusCalt_assembly_8HuRefHuRefview500
22NW_927495.115875484318320plusGalt_assembly_1CeleraCeleraview500
22NT_011520.1122217419161605plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011520
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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .