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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs34179714          
refSNP ID: rs34179714
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/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_004104.4:c.3306C>G
NP_004095.4:p.A1102A
NT_010663.14:g.259153G>C
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 ss44042729 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34179714 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
ss44042729ABI|hCV372283fwd/C/Ggggcacctgctgctcctgctgccgccgcgggccgactcagtgtggagcccggagatgtgg07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34179714|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=126
 AAGGCTGGGG GCTGGGGGAG GGAGGGAGGC CGCCATCGTG AGCTCCGGCC GGAGGGTTGG
 GCTAGGGTTG CTGACCCCAA AGGGGGCCCC GTGGAGAAGC AAGTCTGGGG TCAACGTGAG
 GGGAGGCGAT CGCTCCTCAT CGCCAGAGGT GTCCGAAGCC AGCAGGGCTG GGACCTCACC
 CTTGCACAGT TGCAGCTCCT CCTGCAGGGC AGCGCGCTCA GACAGGCACC CCTCCTCCGT
 GTGGGGAGTG AAGCAAAACT TCTCCAGGAT GGGCACCTGC TGCTCCTGCT GCCGCCGCGG
 S
 GCCGACTCAG TGTGGAGCCC GGAGATGTGG ACGCCTCCCG CCACTGTGAC CCTCAGCCAC
 CTGCTCACCA CCACGTCAGC CACTGTGGGG ACAGGCTGGG TGAGTGCGGC ATACTTGGGT
 GGGGGCACTG GGCTGGGGCT GGGGCGGGGC TACCTTGGGC CTTGTCCTGC AGTGTGTACA
 GCTTCTGCCT GTGGGTGGCA GGGTCGATGT GGATGGCGGT GACACGGGTG GGCAGGTACA
 GGCCGTGCTT GGCCGAGCCC AGGATGGACA TCTGCAGCAT GGTGTCCATG AAGCTCACCC

  GeneView back to top
GeneView via analysis of contig annotation: FASN fatty acid synthase
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_010663->NM_004104
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010663->NM_004104->NP_004095259154reverse3423synonymousGAla [A]31102
contig referenceCAla [A]31102

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs34179714 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_001838459.129193075445001plusGalt_assembly_8HuRefHuRefview300
17NW_926918.11714479576639394plusGalt_assembly_1CeleraCeleraview300
17NT_010663.1425915477638336plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
NM_004104.4

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .