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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28384673          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_004152.2:c.149C>T
NP_004143.1:p.Ser50Phe
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 ss32479362 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28384673 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
ss32479362EGP_SNPS|OAZ1-003580byFreqfwd/BC/Tgctgcctcgtgacctgcatcatcttcagttcagggtctccctccactgctgtagtaaccc01/06/0511/02/06125Genomicunknown
ss66858900EGP_SNPS|OAZ1_003580byFreqfwd/BC/Tgctgcctcgtgacctgcatcatcttcagttcagggtctycctccactgctgtagtaaccc11/09/0612/16/06127Genomicunknown
ss74870616ILLUMINA|ILMN_Human_1M_rs28384673fwd/BC/Tgctgcctcgtgacctgcatcatcttcagttcagggtctccctccactgctgtagtaaccc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28384673|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 AGGTTGGGCT GTCCTGGGCG GCGCCGCCCG AGGAGTCGGG GCTCAGTGAC CGCTGCCCTT
 GTAGGTGCTT GGGGCAGGCG TTGGAGCTGC CTTCGGGAAG CCTCGGGGGT GTGGGACCGG
 GTGGGCCCCT GCCTGGGCGG GGCGGGGTCT TCTGGCCGAG GCAGGGGTGG GGATGTGCTG
 AAGGCCGCCC GGGCGCCCTG GAGGGGTCTC CGCCCGGAGC CTGGCGCTGC CTCGTGACCT
 GCATCATCTT CAGTT
 Y
 CAGGGTCTCC CTCCACTGCT GTAGTAACCC GGGTCCGGGG CCTCGGTGGT GCTCCTGATG
 CCCCTCACCC ACCCCTGAAG ATCCCAGGTG GGCGAGGGAA TAGTCAGAGG GATCACAATC
 TTTCAGCTAA CTTATTCTAC TCCGTGAGTA TGGGGCCGGG CCTGCTGGGG CTGCTCTGGG
 GCCACAGGTA CTTTCTTGTG CACCTTGCTG CCCGTACCTG TGATTGAATG TAATCGTGGG
 AACCCTGAGT TTCAT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
AY865622
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss32479362 PDR90 Global 172 IG 0.965 0.035 1.000 0.983 0.017
ss66858900 HSP_GENO_PANEL 120 IG 1.000 1.000
CEU_GENO_PANEL European 120 IG 1.000 1.000
AAM_GENO_PANEL African American 122 IG 1.000 1.000
CHB_GENO_PANEL Asian 90 IG 0.844 0.156 0.584 0.922 0.078
YRI_GENO_PANEL Sub-Saharan African 120 IG 1.000 1.000
JPT_GENO_PANEL Asian 90 IG 0.933 0.067 1.000 0.967 0.033

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.031+/-0.120 990 847 209 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .