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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs26288          
refSNP ID: rs26288
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/129
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_007118.2:c.157+4987G>A
NT_006576.15:g.14138978G>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 ss44676255 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs26288 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
ss34325KWOK|OVLP-26889rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga04/28/0010/10/0376Genomic99 %
ss34393KWOK|OVLP-27009rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga04/28/0010/10/0376Genomic99 %
ss35265KWOK|OVLP-29032rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga04/28/0010/10/0376Genomic99 %
ss322627KWOK|OVLP-000621-28114rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga06/30/0010/10/0379Genomic99 %
ss442654KWOK|OVLP-000621-356021rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga06/30/0010/10/0379Genomic99 %
ss443846KWOK|OVLP-000621-358554rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga06/30/0010/10/0379Genomic99 %
ss615188SC_JCM|AC027344.2_89997byFreqrev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga07/12/0005/16/0480Genomicunknown
ss872399KWOK|OVLP-000804-12316fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg09/01/0010/10/0386Genomic99 %
ss873208KWOK|OVLP-000804-15737rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga09/01/0010/10/0386Genomic99 %
ss876185KWOK|OVLP-000804-30100fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg09/01/0010/10/0386Genomic99 %
ss876685KWOK|OVLP-000804-32783rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga09/01/0010/10/0386Genomic99 %
ss879904KWOK|OVLP-000804-49734fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg09/01/0010/10/0386Genomic99 %
ss883039KWOK|OVLP-000804-62592fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg09/01/0010/10/0386Genomic99 %
ss1801285KWOK|OVLP-000925-646062fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/05/0010/10/0389Genomic99 %
ss1801665KWOK|OVLP-000925-649345rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga10/05/0010/10/0389Genomic99 %
ss1801784KWOK|OVLP-000925-650335rev/BC/Tcccttgctccagctggggacccagcctggtcctgcagcccattaattaaaatgaggctga10/05/0010/10/0389Genomic99 %
ss1802025KWOK|OVLP-000925-652953fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/05/0010/10/0389Genomic99 %
ss1802970KWOK|OVLP-000925-658392fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/05/0010/10/0389Genomic99 %
ss1803094KWOK|OVLP-000925-659222fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/05/0010/10/0389Genomic99 %
ss44676255ABI|hCV613801fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg07/19/0507/19/05126Genomicunknown
ss78261035HGSV|Cor12878_SNV_20070510.chr5_14201978fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/17/0710/18/07129Genomicunknown
ss78875289HGSV|Cor18507_SNV_20070510.chr5_14201978fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg10/19/0710/21/07129Genomicunknown
ss93000589BCMHGSC_JDW|JWB-1939176fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg02/26/0803/03/08129Genomicunknown
ss1088256921000GENOMES|CEU.trio.12.15.2008_1210209_chr5_14201978fwd/TA/Gtcagcctcattttaattaatgggctgcaggaccaggctgggtccccagctggagcaaggg12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs26288|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CCTCAATTCT ATAATGAATT GGCTTTTATT TCCTTAAGTG CATTGTCTTG ACAAAATTTT
 AACAGCGCCA CTGGCAGGAA ATAGTAGCGA CTCCCTGGAC AGTGAAGACT TGGATTTGCG
 GGAGAATCCC AGTGTATTCT GGTGGAAAGT GCGTGCTCTG ACCTCATCCT CCCATTTCTT
 CCAAGTACTC AGCTGCGTAG ACTTGGCCAA ACTGACAAGG GTGATGGTGT GGTTGGCCTG
 GTGGATGGAG ATGCTGTCTT TTGAATCTTC TCAGCCTCAT TTTAATTAAT GGGCTGCAGG
 R
 ACCAGGCTGG GTCCCCAGCT GGAGCAAGGG GTAAGCGGGT TCGATGTGCA TCCACAGGGT
 TCTCTTCGTC CTATTCCAGT TCTGCTGACG CGCTGTTCAG TGGGCCACTG GGAGAGGGAA
 TGAACAGGGA GACTTCCCAG TGACCCTTGC ACTTGGGAAT TCTGGCTGCT GTTACTCAGC
 GGGAGCTGTT CTGGGAATTC CTATTGCTGT GCCTCTGAAC TGAGGGGAAG GGAGCATAGA
 GGAGTGGTCA GAGGCTTGCG GGGCCCTGCA TGTGCTGCTG GCTTCCTGCT GGACCCCTGG

  GeneView back to top
GeneView via analysis of contig annotation: TRIO triple functional domain (PTPRF interacting)
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_006576->NM_007118
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006576->NM_007118->NP_00904914138978forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs26288 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_001838927.1639659014120492plusGalt_assembly_8HuRefHuRefview300
5NW_922518.11327572314173291plusGalt_assembly_1CeleraCeleraview300
5NT_006576.151413897814201978plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC027344 AC010419 AC013637 AC013637.3 AC016655.5 AC018548.10 AC027344.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss615188CEPH 184AF 0.330 0.670

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.442+/-0.1600000

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

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Revised: May 25, 2006 1:38 PM .