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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17550360          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
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_019851.1:c.616G>A
NP_062825.1:p.Asp206Asn
NT_030737.9:g.4695620C>T
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 ss48423713 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17550360 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
ss28476617EGP_SNPS|FGF20-011024byFreqfwd/TA/Ggatccagaaagagttccagaattgtacaagacctactgatgtacacttgaagtgcgatag07/27/0408/05/04123Genomicunknown
ss48423713APPLERA_GI|hCV25607776fwd/TA/Ggatccagaaagagttccagaattgtacaagacctactgatgtacacttgaagtgcgatag09/28/0511/30/05126Genomicunknown
ss66860736EGP_SNPS|FGF20_011024byFreqfwd/TA/Ggatccagaaagagttccagaattgtacaagacctactgatgtacacttgaagtgcgatag11/09/0612/16/06127Genomicunknown
ss74885303ILLUMINA|ILMN_Human_1M_rs17550360fwd/TA/Ggatccagaaagagttccagaattgtacaagacctactgatgtacacttgaagtgcgatag08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17550360|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 ATAGAGTTGA AACTTGTAAG GAAATTATCT CAAAGGTATT TTTTTAAAAA ATAATAGTTA
 TCTTCTCTCT TTCAGGAGAA ACTTACTTCC GAATGCATCT TTAGGGAGCA GTTTGAAGAG
 AACTGGTATA ACACCTATTC ATCTAACATA TATAAACATG GAGACACTGG CCGCAGGTAT
 TTTGTGGCAC TTAACAAAGA CGGAACTCCA AGAGATGGCG CCAGGTCCAA GAGGCATCAG
 AAATTTACAC ATTTCTTACC TAGACCAGTG GATCCAGAAA GAGTTCCAGA ATTGTACAAG
 R
 ACCTACTGAT GTACACTTGA AGTGCGATAG TGACATTATG GAAGAGTCAA ACCACAACCA
 TTCTTTCTTG TCATAGTTCC CATCATAAAA TAATGACCCA AGCAGACGTT CAAAATATTA
 AAGTCTATTT TCTACTGAGA GACTGGATTT GGAAAGAATA TTGAGAAAAA AAACCAAAAA
 AAATCTTGAC TAGAAATAGA TCATGATCAC TCTTTATATG TGGATTAAGT TCCCTTAGAT
 ACATTGGATT AGTCCTTACC AGTAGACTGA AGCCAAAAAT CTGTTAAACT GTGGATAATG

  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
AY696296
dbSNP Blast Analysis
UniGene Cluster ID
199905

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss28476617 PDR90 Global 166 IG 0.048 0.952 1.000 0.024 0.976
ss48423713 AGI_ASP population multiple 58 IG 0.034 0.966 1.000 0.017 0.983
ss66860736 HSP_GENO_PANEL 54 IG 0.037 0.963 1.000 0.019 0.981
CEU_GENO_PANEL European 68 IG 1.000 1.000
AAM_GENO_PANEL African American 124 IG 0.081 0.919 0.752 0.040 0.960
CHB_GENO_PANEL Asian 90 IG 1.000 1.000
YRI_GENO_PANEL Sub-Saharan African 120 IG 0.183 0.817 0.439 0.092 0.908
JPT_GENO_PANEL Asian 24 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.061+/-0.163 1278 1073 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 .