Reference SNP(refSNP) Cluster Report: rs2066459

Reference SNP(refSNP) Cluster Report: rs2066459

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	94/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NG_008648.1:g.64902G>A
NM_000534.3:c.605G>A
NM_000534.4:c.605G>A
NM_001128144.1:c.605G>A
NP_000525.1:p.Arg202Lys
NP_001121616.1:p.Arg202Lys
NT_005403.16:g.40918129G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss7986900 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2066459 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss2978053	UWGC\|pms1-e5+f23	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	01/30/01	10/10/03	94	Genomic	unknown
ss3188881	HGBASE\|SNP000064705	fwd/T	A/G	taggcagttatttggcagaaaagca	agtatcagatcacaagatggctctc	07/23/01	10/10/03	98	cDNA	unknown
ss7986900	EGP_SNPS\|PMS1-071534	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	04/04/03	05/16/04	114	Genomic	unknown
ss68838587	PERLEGEN\|PGP04771034	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	01/30/07	08/14/07	127	Genomic	unknown
ss74813652	AFFY\|SNP_M-289715	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	08/09/07	08/09/07	128	Genomic	unknown
ss74869129	ILLUMINA\|ILMN_Human_1M_rs2066459	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	08/28/07	08/29/07	129	Genomic	unknown
ss76703649	AFFY\|AFFY_6_1M_SNP_A-8564971	fwd/T	A/G	atttggcagaaaagca	agtatcagatcacaag	08/28/07	08/30/07	129	Genomic	unknown
ss86345056	CANCER-GENOME\|27339	fwd/T	A/G	gtccctaggcagttatttggcagaaaagca	agtatcagatcacaagatggctctcatgtc	01/25/08	01/25/08	129	Genomic	unknown

Fasta sequence (Legend)

 GAGAAAACCA AGGTAAAGGG AAGTTAAATA GATGGTACAC TGCAACATAT ACAGCTTTTA
 AAATTCAGAA CCAGAGTTTC TTCTGTCAGA CCTCATAGCT CATGAATCTC TTCTAAGTGA
 TACTGAAATT TTAAGCTGAG GATGAATGCA AAATATAGGA ATAAAATACT GACTTCTTGA
 GTTTAGTAAA TCTAAATTGT ATTAAAAGTT ATCTATATCA TTTTTGTCCC TAGGCAGTTA
 TTTGGCAGAA AAGCA
 R
 AGTATCAGAT CACAAGATGG CTCTCATGTC AGTTCTGGGG ACTGCTGTTA TGAACAATAT
 GGAATCCTTT CAGTACCACT CTGAAGAATC TCAGGTATAC TGCAAAAACA TTCTCAGATA
 ATTCTGATTT ACTCATGAAG CTGTTCACAT ATTTCCCTTT GGGGGAGTTA CAGTGGCAAG
 AGGTTAGTCT TTTAATATTT TAATCAAATA TGTGTGTAAG GTAAAACAGT CAATACAGAG
 CTTATGTTAA ACCTC

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
dbSTS	GenBank
G67535	NM_000534,AC

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss2978053	NIHPDR	Global	72	IG	0.028	0.972	1.000	0.014	0.986

ss68838587	HapMap-CEU	European	120	GF	0.067	0.933		0.033	0.967

	HapMap-HCB	Asian	90	GF		1.000			1.000

	HapMap-JPT	Asian	90	GF		1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			1.000

ss7986900	PDR90	Global	180	IG	0.011	0.989	1.000	0.006	0.994

	CEPH		184	AF				0.070	0.930

	HapMap-CEU	European	120	IG	0.067	0.933	1.000	0.033	0.967

	HapMap-HCB	Asian	90	IG		1.000			1.000

	HapMap-JPT	Asian	88	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.018+/-0.094	1214	1043	36	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 .