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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8072188          
refSNP ID: rs8072188
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_172367.2:c.387+3540C>T
NT_010718.15:g.790596C>T
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 ss12398125 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8072188 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
ss12398125WI_SSAHASNP|chr17.NT_010718.13_33387fwd/BC/Tgtcaggagattgacaccatcctggctaacaggtgaatccccatctctactaaaaatgcaa07/04/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8072188|allelePos=731|totalLen=1365|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=116
 TCCCTGGCAT TCCCATCTGC AAAATGGGTA TAACCTCAAT GCCTGCACGA GAGAGCCGTG
 AGGGGGTGAA ATGAGACGGG CCACACCCAG TGCTTCAGAA CAACACCAGG AGGGTGTGGG
 GCTCTTACAG GATAATGGGT ACGTAAGTGG CAGCGGGGAG CCTCCCGGGG GAGGCAGGAA
 GCCATCCTGG TGTTTTAGAa atggctttgt tgagatataa ctcacatacc atatgatgca
 cccatctaaa gtgtattcac agacaggtgc aacaaccgca gtcaatttgg aacatttgcc
 tcatctccaa aagaaaccct gtaccctggc cgggcgcagt ggctcatgcc tgtaatccca
 gcactttggg aggccgaggc gggtggatct cctgagatca ggagttcgag accagcctgg
 ccaacatggt gcaaccccat ctctactaaa aatacaaaaa aattagccag gtgtggtgtc
 atgtgcctgc aatcccagct actcgggagg ctgaggcagg agaatcactt gaaccctgga
 ggcagaggtt gcagtgagcc gagatccagc cactatactc cagcctgagt aacagagtga
 gattctatct caaaaaaaat aaaataaaat aaagggccgg gagtggtggt catgcctgta
 atcccagcac tttgggaggc cgaggcgggc agatcacgag gtcaggagat tgacaccatc
 ctggctaaca
 Y
 ggtgaatccc catctctact aaaaatgcaa aaaattagcc gggcatggtg gcagtgggcg
 cctgtagtcc cagctactca ggaggctgag gcaggagaat ggcgtgaatc cgggaggcgg
 agcttacagt gagctgagat ggtgccactg cactccagcc tgggcgacag agcaagattc
 tgtctcaaaa aaaaaaagaa agaaagaaag aaagaaaaga aagaaagaaa ccctgtcccc
 ttcagctgtc actctccatc cctgcccctc ccagccctga gcaaccactc atctcctttc
 tgtttctcta gatctgccta ttctggacat gaaatgataa atggaatcat acagtatgag
 gcctgtgttc ctggcctcgt tcactttgca tgtcgtcttc aagcgtcatc cctgccgcag
 tgccgtagca gcacGCTGTA GGCTTTGCAG CCGAGAGGAG TGTGGTTGGA TCTCCATTTT
 GCTGGATCAG TCTGGGGCAG GGTGAGAGGA GGGGTTGGAG GGGATGAGGC TGGCGTTCAG
 CAGAGGGGAC CCTCGTAGGA ATGCAGGCAA GAGGCGAAGA GGCCAGGACC AGGGCCAGGG
 ACAGGGCCAG AGGTGGCTCT GAAACCCTCT AAGA

  GeneView back to top
GeneView via analysis of contig annotation: TUSC5 tumor suppressor candidate 5
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_010718->NM_172367
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010718->NM_172367->NP_758955790596forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8072188 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
17NW_001838403.17816501090480plusCalt_assembly_8HuRefHuRefview730
17NT_010718.157905961133972plusCref_assemblyreferencereferenceview730
17NW_926584.111186771201181plusCalt_assembly_1CeleraCeleraview730

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010718
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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .