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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12922463          
refSNP ID: rs12922463
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_032486.2:c.117+1300T>A
NT_010393.15:g.14968723T>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 ss21319537 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12922463 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
ss21319537SSAHASNP|WGSA-200403-chr16.chr16.NT_010393.14_14967977fwd/TA/Taattttttttttttttttttttttttgagaggagtctcgccctgttgcccaggttggagt03/19/0403/19/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12922463|allelePos=401|totalLen=901|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=121
 TGCCATCTGG AACACTCAAT TTTGAAATTA ATTTTTCTTT AAATATTACA TCTCTAACTT
 CCAGAAGGAA AATAGTCTCC TTATAACCAA GAGATCACAA ATATTTTCAG TAGAAGATAA
 TTAGTCTCCA TTAAGCCTGT CATACCAAGG AATTAAGTGG AAAAGAAATA TAATTCAGTA
 ATTGCTGCTC AGACATACTG tttctttttt ttcctttttt gttgagacag agtattgctc
 tgtcacccag gtcggagtac agtggcgcga tcttggctca ctgcaacttc cacctcctgg
 catcaggtga ttctcctgcc tcagcctcca gagtagctgg gattacaggc tcccgccatc
 atgcccacct aatttttttt tttttttttt ttttttgaga
 W
 ggagtctcgc cctgttgccc aggttggagt gcagtggtgc gattttggct cactgtaagc
 tccgcctccc aggctcacgc cattctcctg cctcagcctc ctgagtagct aggactacag
 gcacccacca ccatgcccag ctaatttttt gtatttttat cagagatggg gtttcaccgt
 gttagccagg atggtctcaa tctcctgacc tcgtgatcca cctgccttgt cctccgaaag
 tgctgggatt acaggcgtga gccaccgcgc ctggcctaat ttttgtattt ttagtagaga
 cagggtttca ccatattggc caggctggtc ttgaactcct cacctcagat gatccatcca
 cttcagcctc ccaaagtgct gggattacag gcatgagcca ccacgcccag ccCAAGATTT
 TTTTTCTTAT GGTGAACTAT GTATAACAAT TTGCCatttt aacaattttt taaaaatttt
 tattatttGA GACAGTTGCC

  GeneView back to top
GeneView via analysis of contig annotation: DCTN5 dynactin 5 (p25)
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_032486
svfunction
HuRefNW_001838401->NM_032486
svfunction
CeleraNW_926217->NM_032486
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010393->NM_032486->NP_11587514968723forwardintron
HuRefNW_001838401->NM_032486->NP_115875185037forwardintron
CeleraNW_926217->NM_032486->NP_115875954026forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12922463 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_001838401.118503721745278plusTalt_assembly_8HuRefHuRefview400
16NW_926217.195402622433822plusTalt_assembly_1CeleraCeleraview400
16NT_010393.151496872323563145plusTref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC008870.8 AC012317.7 NC_000016.8 AC009043.8

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .