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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3783579          
refSNP ID: rs3783579
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_000575.3:c.319+631A>G
NT_022135.15:g.2246473T>C
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 ss4969932 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3783579 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
ss4969932PGA-UW-FHCRC|IL1A-009548fwd/TA/Gctgtcacccaggctggagtgcagtggcgcatctcggctcactgcaagctctgcctcctgg08/09/0202/03/05107Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3783579|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=107
 ATCAGAATCC CCCACTCATT GGATTGTTGT AAAGATTAAG AGTCTCAGGC TTTACAGACT
 GAGCTAGCTG GGCCCTCCTG ACTGTTATAA AGATTAAATG AGTCAACATC CCCTAACTTC
 TGGACTAGAA TAATGTCTGG TACAAAGTAA GCACCCAATA AATGTTAGCT ATTACTATCA
 TTATTATTAT TATTTTATTT TATTTTTTTG AGATGGAGTC TGGCTCTGTC ACCCAGGCTG
 GAGTGCAGTG GCGCA
 R
 TCTCGGCTCA CTGCAAGCTC TGCCTCCTGG GTTCATGCCA TTCTCCTGCC TCAGCCTCCC
 GAGTAGCTGG GAATACAGGC ACCCGCCACT GTTCCCGGCT AATTTTTTGT ATTTTTAGTA
 GAGACGGAGT TTCACCGTGG TCTCCATCTC CTCGTGATCC ACCCACCTTG GCCTCCCAAA
 GTGCCGGGAT TACAGGCGTG AGCCACCGCG CCCGGCCTAT GATTATTATT ATTATTACTA
 CTACTACTAC CTATA

  GeneView back to top
GeneView via analysis of contig annotation: IL1A interleukin 1, alpha
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_022135->NM_000575
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022135->NM_000575->NP_0005662246473reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3783579 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
2NW_001838841.2679335105993126plusAalt_assembly_8HuRefHuRefview255
2NW_921474.1345850106923712minusTalt_assembly_1CeleraCeleraview255
2NT_022135.152246473113255021minusTref_assemblyreferencereferenceview255

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AF536338
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
HWPA
G
ss4969932PGA-AFRICAN-PANELAfrican American 48IG 0.958 0.042 1.000 0.979 0.021
PGA-EUROPEAN-PANELEuropean 44IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.022+/-0.101472600

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

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Revised: May 25, 2006 1:38 PM .