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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs326463          
refSNP ID: rs326463
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001270.2:c.54-687C>T
NT_034772.5:g.656503G>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 ss44599805 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs326463 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
ss417431KWOK|OVLP-000621-288158fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt06/30/0010/10/0379Genomic99 %
ss422029KWOK|OVLP-000621-302248fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt06/30/0010/10/0385Genomic99 %
ss638497SC_JCM|AC026778.2_38766fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt07/12/0010/10/0380Genomicunknown
ss1087235KWOK|OVLP-000804-108915fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt09/02/0010/10/0386Genomic99 %
ss1088268KWOK|OVLP-000804-115118fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt09/02/0010/10/0386Genomic99 %
ss1804634KWOK|OVLP-000925-671639fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt10/05/0010/10/0387Genomic99 %
ss1805055KWOK|OVLP-000925-675944fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt10/05/0010/10/0387Genomic99 %
ss10191792BCM_SSAHASNP|chr5.NT_034772.4_656503fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt06/27/0310/10/03116Genomicunknown
ss11697900WI_SSAHASNP|chr5.NT_034772.4_656503fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt07/03/0310/10/03116Genomicunknown
ss44599805ABI|hCV811097fwd/TA/Gacgtgtatacacacacataaaaaagcaattacatttcataaactatccttttttccattt07/19/0507/19/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs326463|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AATAAAGTAA GAAATGTGTG AAGAAAAGAT TAAATGTGTT AAAAAAAATT CTTACAGTAA
 CAGGCAGAAA TTTATTTGTA GTTTCTGCTT GTTTTCAAGT TTCCATCTCT ATCACTCCAG
 GAGAACATAA TTTATTATAA CCGAGCTATG ATAAAATATA ATTTATTTTA AAAAATCAGT
 AACACTGCTT GTCTGAGAAA ATCACTTATT AATAAGTTCT TTGTGGATCT GTAGCAATAA
 ATCTGAAATA GCAAATTCTC ATATTTCCTA ACGTGTATAC ACACACATAA AAAAGCAATT
 R
 ACATTTCATA AACTATCCTT TTTTCCATTT CTAATTTTTA GTCCAAGATA GAGCAGAAAT
 AGTCTGGACT AAACAGTTGA TTATATAATT ATCCCCAAGG TCATTTGTTT ATATGTTGAA
 AACTAGGGCA TTAAATTTCT GGTACATATG GTTGACTCCG CTTTTGATGT AATTTCATTT
 GGCTTTATGA GAAACCACAG GTAATACAGT TTACAGATAT ACAAGAAAAT ACAAGTTTCC
 TGTCCTCTTC TGTAATTTTC TAAAATGCCA CCAGATGGAG GTATTACTCT AAGACAACAC

  GeneView back to top
GeneView via analysis of contig annotation: CHD1 chromodomain helicase DNA binding protein 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_034772->NM_001270
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_034772->NM_001270->NP_001261656503reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs326463 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_001838952.24054780293428906minusCalt_assembly_8HuRefHuRefview300
5NW_922729.12752543794125593plusAalt_assembly_1CeleraCeleraview300
5NT_034772.565650398269389plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034772 AC012624 AC021449 AC022121 AC022121.4 AC026778.2
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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .