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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28661751          
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/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001925.1:c.22G>C
NP_001916.1:p.Ala8Pro
NT_023736.16:g.6781810C>G
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 ss48419270 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28661751 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
ss35452620SSAHASNP|TA-079.chr8_6781810fwd/C/Gggacctggagggctaccaagagaatagcaggaggagggcgataatcctcatggctggggt03/11/05125Genomicunknown
ss48419270APPLERA_GI|hCV25959610byFreqfwd/C/Gggacctggagggctaccaagagaatagcaggaggagggcgataatcctcatggctggggt09/28/0511/03/06126Genomicunknown
ss69038462PERLEGEN|PGP17792418byFreqfwd/C/Gggacctggagggctaccaagagaatagcaggaggagggcgataatcctcatggctggggt01/30/0703/31/08127Genomicunknown
ss74874579ILLUMINA|ILMN_Human_1M_rs28661751fwd/C/Gggacctggagggctaccaagagaatagcaggaggagggcgataatcctcatggctggggt08/28/0708/29/07129Genomicunknown
ss1127836381000GENOMES|CEU.trio.12.15.2008_1919061_chr8_6781810fwd/C/Gggacctggagggctaccaagagaatagcaggaggagggcgataatcctcatggctggggt12/15/0812/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28661751|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 TCTCTATTCA GTTTGGAGAT AAGAAAATCG AGGCCCAGAG ATGGTAAGTA AAGCCACCTA
 AGTGACATCC ACCATTGAGA TGTGATTCCA GAGCCCATCT CCCATCCGTC TCTCTAGACT
 CGGTAGCTTT TTTATGCTGG CCTCTCTCAC CTGAAACCTG AAGAGCAGAG CTTTTATCCC
 ATGCAAAGGA AATAGATATG TCCTGGTCTT CTGGCCCACG CTGCTCCTGG CCTGGAGCCT
 CATCACCTCT TGCCTGGAGT GGGCCTGCCC GGACCTGGAG GGCTACCAAG AGAATAGCAG
 S
 GAGGAGGGCG ATAATCCTCA TGGCTGGGGT GACCTGGAGG AGGGAGAGCA GGAGCAGCTG
 TGTGGGGAGG GAGAAGCCAG CTTGGATTTA TAGCTTTGCT GGGAGAAGGC ACAGAGATAA
 GAAACCTTTG GCCTTCTGAG TGAGAGGAGG TGTGCATTTT GTTAGAGAGG ATGCCGACTC
 CTATTGGCCT TGACATCCCT GGAATGCTCC TCTGCTCTCC CAGCTTTCTT CACAGGAAGC
 TCTATGTTTA GTGTCTGTGC TAGGTTGAAG TTGATGGTGA TGATGAGGAC CCTGGCATTT

  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
NC_000008.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 HWP C
 G
ss48419270 AGI_ASP population multiple 74 IG 0.811 0.189 0.527 0.905 0.095
ss69038462 HapMap-CEU European 120 GF 0.667 0.333 0.833 0.167
HapMap-HCB Asian 90 GF 0.622 0.378 0.811 0.189
HapMap-JPT Asian 90 GF 0.822 0.178 0.911 0.089
HapMap-YRI Sub-Saharan African 120 GF 0.833 0.167 0.917 0.083

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.220+/-0.248 39 39 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .