Reference SNP(refSNP) Cluster Report: rs574365

Reference SNP(refSNP) Cluster Report: rs574365

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	83/130
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
NM_025163.2:c.796G>A
NP_079439.2:p.Ala266Thr

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss117448862 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs574365 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
ss745761	SC_JCM\|AC021072.8_113300	fwd/T	A/G	cgggaggccctggtgctgctccctggggcg	ccctcacagcagcggtgtttgtggccacgg	07/27/00	08/14/07	83	Genomic	unknown
ss4918866	YUSUKE\|IMS-JST086471	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	cgccccagggagcagcaccagggcctcccg	07/24/02	10/10/03	108	Genomic	unknown
ss6795924	WI_SSAHASNP\|NT_029928.8_898526	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	02/12/03	05/16/04	123	Genomic	unknown
ss11545990	WI_SSAHASNP\|chr3.NT_029928.10_1294706	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	07/03/03	10/10/03	123	Genomic	unknown
ss14203478	BCM_SSAHASNP\|chr3.NT_029928.11_1294706	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	11/05/03	11/22/03	123	Genomic	unknown
ss20165780	CSHL-HAPMAP\|CSHL-HuFF-200402.chr3.NT_029928.11_1294706	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	02/21/04	03/04/04	123	Genomic	unknown
ss22031287	SSAHASNP\|WGSA-200403-chr3.chr3.NT_029928.11_1294706	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	03/20/04	03/20/04	123	Genomic	unknown
ss35412424	SSAHASNP\|TA-079.chr3_198163282	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	03/11/05		126	Genomic	unknown
ss65728537	ILLUMINA\|Human1-rs574365	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	10/10/06	10/10/06	127	Genomic	unknown
ss86240686	CORNELL\|hCV1666715	rev/T	A/G	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	01/21/08	01/21/08	129	Genomic	unknown
ss105798116	BGI\|BGI_rs574365	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	cgccccagggagcagcaccagggcctcccg	09/12/08	06/17/09	130	Genomic	unknown
ss117448862	ILLUMINA-UK\|NA18507_000257762_NCBI36.1_chr3_198159369	rev/B	C/T	ccgtggccacaaacaccgctgctgtgaggg	tgccccagggagcagcaccagggcctcccg	01/18/09	01/19/09	130	Genomic	99 %

Fasta sequence (Legend)

 ACTCCTCTTC ACGTGGCTGC TGGTGCTGGT ATCCTCCCAT GTAACGTGGG GCCCTACACG
 CAAGGAGCCG GCGCCGGGTC CACGGTGGCG CAGCTGGCTT CTTGGAGGCA TTGTGGCTGC
 TGGCTTCTTC AACCGGCCCA CCTTTCTGGC CTTTGCTGTG GTCCCCCTCT ACCTCTGGGG
 CACTCGTGGA GCCACAAACC CTGGTTTGAA GTCTCTGACC CGGGAGGCCC TGGTGCTGCT
 CCCTGGGGCA
 R
 CCCTCACAGC AGCGGTGTTT GTGGCCACGG ACAGCTGGTA TTTCTCCAGC CCCGCTACAT
 CCAGGAACCT TGTCCTGACA CCTGTCAACT TCTTGCACTA CAACCTGAAT CCCCAAAACC
 TGGCGAGACA TGGCACGCAC GCGCGGCTCA CTCACCTGGC AGTCAACGGC TTCCTGCTCT
 TCGGGGTGCT GCATGCCCAG GCCCTGCAGG CTGCGTGGCA ACGGCTGCAA GTCGGCCTCC
 AGGCCTCTGC

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
NT_029928 AC009861

dbSNP Blast Analysis

UniGene Cluster ID
518403

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss6795924	CEPH		184	AF					0.560	0.440

ss745761	HapMap-CEU	European	116	IG	0.500	0.345	0.155		0.672	0.328

	HapMap-HCB	Asian	90	IG	0.889	0.089	0.022		0.933	0.067

	HapMap-JPT	Asian	88	IG	0.727	0.250	0.023		0.852	0.148

	HapMap-YRI	Sub-Saharan African	118	IG	0.864	0.119	0.017		0.924	0.076

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.269+/-0.249	0	0	0	0

Validation Summary:

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

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Revised: May 25, 2006 1:38 PM .