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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs34707496          
refSNP ID: rs34707496
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/129
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_152699.3:c.141A>G
NP_689912.2:p.P47P
NT_029928.12:g.1231926A>G
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 ss48402750 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34707496 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
ss48402750APPLERA_GI|hCV25627442byFreqfwd/BC/Tgaaatgtctcaactgtctattccaagtaacggccttcccagcttagctttcagaatgcac09/28/0511/03/06126Genomicunknown
ss86343593CANCER-GENOME|27635rev/TA/Ggtgcattctgaaagctaagctgggaaggccgttacttggaatagacagttgagacatttc01/25/0801/25/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34707496|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ACTATTTGAT GGAAAGTCAG TAACTGCCTT CAAGAGATTT TTCTCTCTGC AGTATTCATG
 GTCAGAATTC TTTGCTGATG ACAACAGCTT CTCTGCTTGG AGTCTCAGGA GAGTCTTTGA
 GGAGGAAATG AAGTGTTTAG CGTCCTTTCT TTTCACTTTA GAGGACAAAG TACTAACATT
 TTGAGTAGCC ACATTGAACT TGGTCTTAGC ACAAAGGGGT TCATCCTTGA TCCACGTTTT
 CTGGATTTGA AGAGCTTTCT TTCTACCCTG GAAATGTCTC AACTGTCTAT TCCAAGTAAC
 Y
 GGCCTTCCCA GCTTAGCTTT CAGAATGCAC AAGTGTTGGT GAAAATAAAA CTTCTTAAAG
 CCTCCAAACC CAGTATTCCA TTTCTCAGAA AAGGCTAAGT GGATTCCTTT CCTCCATAGA
 ATTTTCCTCT GTTTTTTCAT TTTTCTGATG CATAATGAGA TCTGGATGCA GCTGTAAAGA
 AGAGAAGTAA GTTATATTTC TATCTAAAAA TAAGGTCATG AAGACATATT CACAGTAACT
 AAGGCAGAAA ATTGAGAAAA AAAAAGAGTA CATATACTTC AATTTAGACT ATTGGACACA

  GeneView back to top
GeneView via analysis of contig annotation: SENP5 SUMO1/sentrin specific peptidase 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_029928->NM_152699
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_029928->NM_152699->NP_6899121231927forward340synonymousGPro [P]347
contig referenceAPro [P]347

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs34707496 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
3NW_001838889.1944080193912329minusAalt_assembly_8HuRefHuRefview300
3NW_921873.1879459195197979minusAalt_assembly_1CeleraCeleraview300
3NT_029928.121231927198096590minusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000003.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/T
T/T
HWPC
T
ss48402750AGI_ASP populationmultiple 74IG 0.108 0.892 0.752 0.054 0.946

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.102+/-0.202383800

  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 .