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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4537351          
refSNP ID: rs4537351
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_005157.3:c.822+1556C>G
NM_007313.2:c.879+1556C>G
NT_035014.4:g.516918C>G
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 ss7954696 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4537351 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
ss6124150SC_JCM|NT_008338.12_516918fwd/BC/Gttgaataaatatttatcaagttcttcactttatttgacggttcctgggctcaacactgga01/10/0310/10/03111Genomicunknown
ss7954696DEVINE_LAB|DB_1_679888byFreqfwd/BC/Gttgaataaatatttatcaagttcttcactttatttgacggttcctgggctcaacactgga03/16/0310/25/06113Genomic96 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4537351|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=113
 GTGGGGGCAT GGTTTGGGGT TACCTTAAGG ACCCTGGATA TTTCTCAGAT AGGACttttt
 cttttctttt tttgagacgg agtcttactc tgttgcctag gctggagtgc agtggcatga
 tctcagctca ctgcaacctc cgcctcccca aattggcgat tctccttcct cagcctcacg
 agtagctggg attacaggca cccgccacca cacccagcta atttttgtat ttttagtaga
 gatggggttt cgctgtgttg gcctggctgg tctcaaactc ctgacctcaa gtgatctgcc
 tacctcagcc tcccagagtg ctgggattat aggcatgagc caccacaccc ggccCTGGAC
 TTTTTCTTAA TTGAATAAAT ATTTATCAAG TTCTTCACTT
 S
 TATTTGACGG TTCCTGGGCT CAACACTGGA TTAGAAAATG AATGGGACAG AGTTCTTCAT
 CTGAGACATA GGGTGGTCCA GGTAGTAGGA GGAAGAAGGA TTGCAGCGCA GCAGTCCTCG
 GGACACCACC AGGGGGTGAA CGAAGGAGGG ACGGGGGAGC TGTGCAGGTG CCCCAGCTCC
 TTGGGTTGCA CAGGGTTGAA GACCAGACCC AAGAAATGGG GCCTTGACCA GCTCAGCAAA
 CTGAGAATGG CCTAGATTTC AGCACACTTT CACCAGGATT TGTCAAATGA AGGAAGATTC
 CAAGCGCAAA ATACCCTAGA TTTCAACCAG TAAAAGCTTG TCTGAAAACT TCCAAGATCG
 GGTTGTACAA CTTGACATTT GAGGAAACGC TACTTCAGTA

  GeneView back to top
GeneView via analysis of contig annotation: ABL1 c-abl oncogene 1, receptor tyrosine kinase
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_035014->NM_005157
function
referenceNT_035014->NM_007313
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_035014->NM_005157->NP_005148516918forwardintron
referenceNT_035014->NM_007313->NP_009297516918forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4537351 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
9NW_001839240.1518522103225819plusCalt_assembly_8HuRefHuRefview400
9NW_924573.117766093104278262plusCalt_assembly_1CeleraCeleraview400
9NT_035014.4516918132729799plusCref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008338.12
dbSNP Blast Analysis
GenBank HTGS Finished:
AL161733.20
UniGene Cluster ID
431048

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
HWPC
G
ss7954696HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 0.956 0.044 1.000 0.978 0.022
HapMap-JPTAsian 90IG 0.978 0.022 1.000 0.989 0.011
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.014+/-0.08327021000

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

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Revised: May 25, 2006 1:38 PM .