Reference SNP(refSNP) Cluster Report: rs9332000

Reference SNP(refSNP) Cluster Report: rs9332000

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	119/130
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_001268.2:c.713G>A
NM_001268.2:c.787G>A
NP_001259.1:p.Ala263Thr
NP_001259.1:p.Gly238Glu
NT_024524.13:g.30064905C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12588353 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9332000 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss12588353	EGP_SNPS\|CHC1L-014759		fwd/T	A/G	gtcctgagtggatttttttccttccaggtc	cctgtggctacgcacacacattagtattaa	08/20/03	03/31/08	119	Genomic			unknown
ss74898629	ILLUMINA\|ILMN_Human_1M_rs9332000		fwd/T	A/G	gtcctgagtggatttttttccttccaggtc	cctgtggctacgcacacacattagtattaa	08/28/07	08/29/07	129	Genomic			unknown

Fasta sequence (Legend)

 TACCCCTTGA TTTCTGTGAG TATTAAAGCT CTAGTGAACT GGGGCAGGTG CTCACGCCAG
 GGTACTCATG GCAATCTTAC TGCAATTCTG GCCCACATGT TCTGGAAGGA TGTTGGTTAA
 CTTAATGCTT GCCTCTCCTA CGGGTAGGCT GCCTCTTCCT TTTTTTTTCA TTTTTGATTC
 TTAACCTACT TTGTGGAAGC AGTGAAATAA TTACTTATAT TTGCAGTCCT GAGTGGATTT
 TTTTCCTTCC AGGTC
 R
 CCTGTGGCTA CGCACACACA TTAGTATTAA CAGATGAAGG CCAAGTGTAT GCTTGGGGCG
 CCAATTCTTA TGGGCAGTTG GGCACTGGCA ATAAAAGCAA CCAGTCCTAT CCTACTCCTG
 TCACTGTGGA AAAGGACAGG TAACACGGGC ATTTTCACAG TCCCCACACT GGTCTTTGGT
 GATTGTGATT AAACAGGACT TAGATATATA GAGAATGGTG GGGAATGTAC TGCTAGTGTT
 AGAATATTAT TTAAC

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

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
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

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

Integrated Maps:

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

Resource

Submitter-Referenced
GenBank
AY341245

dbSNP Blast Analysis

UniGene Cluster ID
25447

3D structure mapping
NP_001259

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss12588353	PDR90	Global	166	IG	0.012	0.988	1.000	0.006	0.994

	HapMap-CEU	European	116	IG		1.000			1.000

	HapMap-HCB	Asian	88	IG		1.000			1.000

	HapMap-JPT	Asian	86	IG	0.023	0.977		0.012	0.988

	HapMap-YRI	Sub-Saharan African	116	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.007+/-0.059	878	762	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	YES

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Revised: May 25, 2006 1:38 PM .