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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28679418          
refSNP ID: rs28679418
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/129
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_014708.4:c.2020-529G>A
NT_009755.18:g.466888G>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 ss35444049 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28679418 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
ss35444049SSAHASNP|TA-079.chr12_121581835fwd/TA/Ggagcatgactctgtcccccccaaaaaaaaaaaaaaaggaaaaattaagtcttgacagtac03/11/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28679418|allelePos=501|totalLen=714|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=125
 GATGATCTGC ACTGCTCGGC CTCCCAAAGT GCTGGATTAC AGGCATGAGC CACTGCTCCT
 GGCCCCCCTC CACCTGTTTT AATGAACAGT TTTTCTCTAT TCAACCAACC AAAAGGGGAA
 CTATATAAAC ATTCTGCTAA GTGGTATAAT TGGGATTTTC TGCATTAGCA GCATTTCACA
 ATCCTTTGAA AAATTAAATC TTGGCTGGGC ACGATGGCTT ACGCCTGTAA TCCCAGCACT
 TTGGGAGGCC GAGATGGGCA GATCATTTGA GGTCAAGAGA TTGAAATCAG CCTGATTAAC
 ATGGTGAAAC CCCATCCCTA GTAAAAATAC AAAAAAAATT AGCCAGGCAT GGTGGTGGGT
 GCCTGTAGTC CTAGCTATTT GAGAGCCTGC GGCAGGAGAA TCGCTTGAAA CGGGGAGGCA
 GAGGTTGCAG TGAGCCGAGA TTGTGCCACT GCACTCCTGC CTGGGTGACA GAGCATGACT
 CTGTCCCCCC CAAAAAAAAA
 R
 AAAAAAGGAA AAATTAAGTC TTGACAGTAC ATTAATATTA GTTTTCAAAG GTTGTGTCTG
 TCAAGTCACC TTTTCTATAT AAGAGCTTTT TCCTCTTGCT GTAAAACATT ATTTTTATCT
 TTTCCCTGTT AACTTTTATC AATATTGAAG GTTCTGTTCT TTTTATATAA TTTTAGGAAA
 TGTTATGCCT TTATATCTGG TTATGATATA TAA

  GeneView back to top
GeneView via analysis of contig annotation: KNTC1 kinetochore associated 1
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_009755->NM_014708
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009755->NM_014708->NP_055523466888forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28679418 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838064.25926424120017354minusCalt_assembly_8HuRefHuRefview500
12NT_009755.18466888121622908plusGref_assemblyreferencereferenceview500
12NW_925395.170273329122649500plusGalt_assembly_1CeleraCeleraview500

  NCBI Resource Links back to top
Submitter-Referenced
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 .