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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2231203          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
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_003689.2:c.764G>A
NM_003689.2:c.919G>A
NP_003680.2:p.Gly307Ser
NP_003680.2:p.Ser255Asn
NT_004610.18:g.2457862C>T
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 ss118541896 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2231203 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
ss3178400GENAISSANCE|GEN83byFreqfwd/TA/Gaacagcctgtgggccgcttctttgggaatactgggctgagacctacaggaatcggtgagc07/19/0108/14/0798Genomicunknown
ss1101419951000GENOMES|NA19240_2008_12_16_24977_chr1_19506107rev/BC/Tgctcaccgattcctgtaggtctcagcccagtattcccaaagaagcggcccacaggctgtt12/16/0812/17/08130Genomicunknown
ss118541896ILLUMINA-UK|NA18507_000024060_NCBI36.1_chr1_19506107rev/BC/Tgctcaccgattcctgtaggtctcagcccagtattcccaaagaagcggcccacaggctgtt01/21/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2231203|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTGACCCACA GATGCCCAGC CCAGAATTTA TGAAGCAGGG AGGGTTTGAC AAGAGGCTGG
 GCTGTGTTCT TCAGCCCCTC CTGGGTCCCT GCCCCTCCCC TAGACCAGAG CCCTGAGGGA
 TGTGGCAGCT TCTGGGGCAC TCTGGGGCCA GGGGCTGATT GCTGCCTTCC CGCAGGGGGC
 CTGCTGACTG GCAAGTACAA GTATGAGGAC AAGGACGGGA AACAGCCTGT GGGCCGCTTC
 TTTGGGAATA
 R
 CTGGGCTGAG ACCTACAGGA ATCGGTGAGC CGGGGGTGGG CTTGGTGAGG ATGGCTGGGG
 TGGGGTCAAA TCTATGTGGA ATGAAGTCCT GGGCTGTTCC TGAGGTAAGA CCTTCCTTTG
 CTGTTTGCAT CTCCTCCCCT GCATTGCTTC AGGAATTCCC AAGCCCTCTG TGGGTTTTCT
 TGTTGTCTTG AGACCTCTGG GGGGGAAATG AGGATCCCTG GATGTTGGGG TCTTGAAGTC
 ATAGCTCGTT

  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
AL035413.19
dbSNP Blast Analysis
UniGene Cluster ID
512807

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss3178400 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 0.017 0.207 0.776 0.121 0.879

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.067+/-0.170 525 409 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 .