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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs360727          
refSNP ID: rs360727
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001562.2:c.*230A>G
NT_033899.7:g.15576505T>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 ss2018959 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs360727 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
ss457373KWOK|OVLP-000621-393176rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct06/30/0010/10/0379Genomic99 %
ss680567SC_JCM|AP002502.1_38312fwd/TA/Gaggcaggagaatcacttgcactccggaggtgaggttgtggtgagccgagattgcaccatt07/27/0010/10/0383Genomicunknown
ss1526488LEE|442621fwd/TA/Gaggcaggagaatcacttgcactccggaggtgaggttgtggtgagccgagattgcaccatt09/13/0010/10/03126cDNAunknown
ss2018959KWOK|OVLP-000925-554892fwd/TA/Gaggcaggagaatcacttgcactccggaggtgaggttgtggtgagccgagattgcaccatt10/06/0010/10/0387Genomic99 %
ss5565052TSC-CSHL|TSC0640206rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct09/21/0210/10/03110Genomicunknown
ss6828149WI_SSAHASNP|NT_033899.3_1552484rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct02/12/0310/10/03111Genomicunknown
ss7988463IIPGA-WEISS-MARTINEZ|IIPGA-IL18_23211byFreqfwd/TA/Gaggcaggagaatcacttgcactccggaggtgaggttgtggtgagccgagattgcaccatt04/11/0304/07/04126Genomicunknown
ss10668649BCM_SSAHASNP|chr11.NT_033899.5_15557756rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct06/29/0310/10/03116Genomicunknown
ss12140015WI_SSAHASNP|chr11.NT_033899.5_15557756rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct07/04/0310/10/03116Genomicunknown
ss15803875SC_SNP|NT_033899.6_15557873rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct11/17/0311/22/03120Genomicunknown
ss20812980SSAHASNP|WGSA-200403-chr11.chr11.NT_033899.6_15557873rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct03/19/0403/19/04121Genomicunknown
ss40028249ABI|hCV27137506rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct07/16/0507/16/05126Genomicunknown
ss76869432CGM_KYOTO|11896rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct09/12/0709/12/07129cDNAunknown
ss88794813BCMHGSC_JDW|JWB-0481539rev/BC/Taatggtgcaatctcggctcaccacaacctcacctccggagtgcaagtgattctcctgcct02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs360727|allelePos=415|totalLen=887|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GTGACATCAT ATTCTTTCAG AGAAGTGTCC CAGGACATGA TAATAAGATG CAATTTGAAT
 CTTCATCATA CGAAGGATAC TTTCTAGCTT GTGAAAAAGA GAGAGACCTT TTTAAACTCA
 TTTTGAAAAA AGAGGATGAA TTGGGGGATA GATCTATAAT GTTCACTGTT CAAAACGAAG
 ACTAGCTATT AAAATTTCAT gccgggcgca gtggctcacg cctgtaatcc cagccctttg
 ggaggctgag gcgggcagat caccagaggt caggtgttca agaccagcct gaccaacatg
 gtgaaacctc atctctacta aaaatacaaa aaattagctg agtgtagtga cccatgccct
 caatcccagc tactcaagag gctgaggcag gagaatcact tgcactccgg aggt
 R
 gaggttgtgg tgagccgaga ttgcaccatt gcgctctagc ctgggcaaca acagcaaaac
 tccatctcaa aaaataaaat aaataaataa acaaataaaA AATTCATAAT GTGAACTGTC
 TGAATTTTTA TGTTTAGAAA GATTATGAGA TTATTAGTCT ATAATTGTAA TGGTGAAATA
 AAATAAATAC TAGTCTTGAA AAACATCATT AAGAAATGAA TGAACTTTCA CAAAAGCAAA
 CAAACAGACT TTCCCTTATT TAAGTGaata aaataaaata aaataaaata aTGTTTAAAA
 AATTCATAGT TTGAAAACAT TCTACATTGT TAATTGGCat attaattata cttaatataa
 ttatttttaa atCTTTTGGG TTATTAGTCC TAATGACAAA AGATATTGAT ATTTGAACTT
 TCTAATTTTT AAGAATATCG TTAAACCATC AATATTTTTA TAAGGAGGCC AC

  GeneView back to top
GeneView via analysis of contig annotation: IL18 interleukin 18 (interferon-gamma-inducing factor)
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_033899->NM_001562
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_033899->NM_001562->15576505reverse10323' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs360727 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
11NW_001838042.28748799107938210plusGalt_assembly_8HuRefHuRefview414
11NW_925173.122036227109167327minusCalt_assembly_1CeleraCeleraview414
11NT_033899.715576505111519299minusTref_assemblyreferencereferenceview414

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033899.7 AC009648 AC010815.6 AP002007 Hs.83077
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank HTGS Draft:
NM_001562.2 AP002007.4 AP002502.1
UniGene Cluster ID
83077

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss7988463D-0African American 46IG 0.043 0.217 0.739 0.479 0.152 0.848
E-0European 40IG 1.000 1.000
E-1European 6IG 0.333 0.667 0.167 0.833

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.159+/-0.233472600

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hit
DoubleHit found by:  NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .