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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1201111          
refSNP ID: rs1201111
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/129
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_001243.3:c.151+2703G>A
NT_021937.18:g.6684678G>A
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 ss1714844 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1201111 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
ss1714844KWOK|OVLP-000925-695705fwd/BC/Tgaggcaagagaattgcttgaacctaggaggggaggttccagtgagccaagatcacaccac10/05/0010/10/0387Genomic99 %
ss2510857SC_JCM|AC023251.3_120609fwd/BC/Tgaggcaagagaattgcttgaacctaggaggggaggttccagtgagccaagatcacaccac11/03/0010/10/03126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1201111|allelePos=473|totalLen=1458|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 GATGAGAAGG AAGTGTCTTT CTCCTTGTGG CTGGGATTGT GGGTCCCATG AAAAGTCATA
 GAACACTGTG GGCCACTCCA TTCCAGAGGA TAAAAACCAC AGCAAGCGGG CCCTGAGAGA
 ACTGAGTGGG AACCACCACC AACCATCAGG CTAGCAAGGG AAGGCCTCAT GGAGGAAGGG
 GTTCCAGAAT TGCAGCAGGT AGGGACGGAG GGGAGGGCAT CCCACATGGG GACAGGCATG
 TCCAAAGGCC CAGAAACTAg gcctggcaca gtggctcatg cctgtaatcc cagcacttta
 tgaggccaag gcgggcagac cactggaggt caggagttga agaccagcct ggccaacacg
 gtgaaacccc atctctacta aaaatacaaa aactagctgg gtgtggtggc acatgcctgt
 aatcccagct actcaggagg ctgaggcaag agaattgctt gaacctagga gg
 Y
 ggaggttcca gtgagccaag atcacaccac cgtactccag cctggactac agagacagac
 tctatctcaa aaaaaaaaaa aaaaaaaaGA GAGAGAGAGA GAAATAAAAA TTTGTtggat
 ggatgatgga tggatggatg gatggatgga tggatggatg gatggatgga tggatggata
 gaAAGGTAGA TGAGAAAATG GCCAGGAgag gggtgggtgt atggatgggg gcggtgaatg
 ggaggataat tggagggata tgggaaggcg atggtgctat ggactgaatt gtgtccccca
 caaagttcat atgttaaatg tgttgaaacc ctaaccccag tgtgactgta tttggagata
 ggacttttag gagataatta aggttaaatg aggtcataag gatggggccc taatccaggg
 ggattggtgg catatatgaa gagggggaaa gagagagaaa gagagagaga gatcgatctt
 cccaccatga gaagactgcc atctgcaagc caagaagaca gccctcacca gaaaccaaat
 cctccaaaaa ccttgatctt ggaccttcaa gcctccagaa ctgtaagaaa taaatgtcta
 ttgtttaggt cacccagact acagtatttt gttatggcag ccccagcaaa ctaatacaga
 tggatggatg gatagtggct agatgggaag aaaaatggaA AGGGGATGGG AGgggtgggt
 tggtgagtgg ttaaaaagat gggtgggtgg gcaggtactt ggatgggtgg gtgggtgagg
 ggggcaggta cttggatggg tgggtggatg gCCGACCAGT GAAGCACTGA AAAAACCAGG
 GGACCCACCT AATAGATCAT TCAAAATCAA CACTAAACCA AAAATAAAAG CAAGAAAGTC
 CAATAGCATC CAACCCACTA CTTTTGCCCA TACAATGAAT ACTTTGAATC ATTGTTGGAA
 ATACAAATCA AAATCAAATA CAAAA

  GeneView back to top
GeneView via analysis of contig annotation: TNFRSF8 tumor necrosis factor receptor superfamily, member 8
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_021937->NM_001243
svfunction
HuRefNW_001838534->NM_001243
svfunction
CeleraNW_923572->NM_001243
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_021937->NM_001243->NP_0012346684678forwardintron
HuRefNW_001838534->NM_001243->NP_0012341118718forwardintron
CeleraNW_923572->NM_001243->NP_0012348829933forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1201111 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_923572.1882993311260607minusGalt_assembly_1CeleraCeleraview472
1NW_001838534.1111871811301384minusGalt_assembly_8HuRefHuRefview472
1NT_021937.18668467812069898minusGref_assemblyreferencereferenceview472

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC023251.3 AL357835 AL357835.3
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL357835.11 NC_000001.9 AC023251.3

  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 .