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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11804428          
refSNP ID: rs11804428
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_182752.3:c.471-374A>C
NT_004321.17:g.859470A>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 ss17345796 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11804428 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
ss17345796CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_004321.15_850465fwd/TA/Caggtcaggagtttgagaccagcctgaccaaatggataaaccctgtctctactaaaaatac02/19/0403/04/04120Genomicunknown
ss41200975ABI|hCV26892521fwd/TA/Caggtcaggagtttgagaccagcctgaccaaatggataaaccctgtttctactaaaaatac07/16/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11804428|allelePos=501|totalLen=919|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=126
 CAGGCACcag tggtgcagtc ttggttcact gcatcctcca cctcctaggc ttaagtgatc
 ctctcacctc agcctcccaa gtagctagga ctacaggtgc ccgccaccac acccagctaa
 tttttgtatt ttttgtagag atggggtttt gctaggttgc ccaggctgtt ctcaaactcc
 tgggctcaag agatccgccc attttggcct cccaaagcgc tgggattata gatgtcagcc
 accgtgccca gccAGTATTC CTGTTTATTA ATTTTTAATC ATGTAAAGAT TACCAAAATA
 ATACATTTAA TAACCAAAAT ATACCTAATT TGTCATATTT ATACCCACAG TATTTAAAGC
 AATTGTTAGT GGAGATTGAA GTTACTACTA AAAACCACAG GCCggccagg cacggtggct
 cacgcctgta atcccagcac cttgggaggc tgaggcgggc ggatcacctg aggtcaggag
 tttgagacca gcctgaccaa
 M
 atggataaac cctgtctcta ctaaaaatac aaaattagct gggtgtggtg gtgcatgcct
 gtaatcccag ctactccgga ggctgagttg ggagaatcgc ttgaacccag gaggtggagg
 atgcagcgag ccaacatcag gccactacac tcaagcctgg gcaacaagag caaaactcca
 tctcaaaaaa taaaaataaa taaaaacaaa aaTAAAAACT ACAAGCCGTT TTCCATTGTG
 ATATGTCATA GGTCTTTTCT GTAAACGTGT GCTTTTTGCT GTCATATTCT CCTAACTGAT
 GAGACTGTCA GATTGTCCAT GAGAGCACTG TGGCCTGCCA TGCTAAGTCT GGCTATTTCT
 TCTGACTTTT CAGGCGAGAA GGTTTTGGGA TTCGAATTCA GTGGGACAAG CAAAGTCG

  GeneView back to top
GeneView via analysis of contig annotation: TPRG1L tumor protein p63 regulated 1-like
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_004321->NM_182752
svfunction
HuRefNW_001838618->NM_182752
svfunction
CeleraNW_923572->NM_182752
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004321->NM_182752->NP_877429859470forwardintron
HuRefNW_001838618->NM_182752->NP_877429299035reverseintron
CeleraNW_923572->NM_182752->NP_877429368137forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11804428 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_923572.13681372798811plusAalt_assembly_1CeleraCeleraview500
1NW_001838618.22990352840107minusTalt_assembly_8HuRefHuRefview500
1NT_004321.178594703533550plusAref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321
dbSNP Blast Analysis
GenBank HTGS Finished:
AL513320.30 NC_000001.9

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .