Reference SNP(refSNP) Cluster Report: rs769242

Reference SNP(refSNP) Cluster Report: rs769242

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/130
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_001237.3:c.487G>A
NP_001228.1:p.Val163Ile

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48429743 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs769242 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
ss869797	UUGC\|CCNA2_snp8	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	08/18/00	04/07/04	86	Genomic	unknown
ss3754085	SC_JCM\|AC032015.2_101239	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	09/25/01	10/10/03	100	Genomic	unknown
ss4478779	EGP_SNPS\|CCNA2-004160	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	06/06/02	04/03/09	106	Genomic	unknown
ss5586326	SNP500CANCER\|CCNA2-01	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	09/26/02	04/07/04	113	Genomic	unknown
ss6675009	WI_SSAHASNP\|NT_016354.13_11430278	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	02/12/03	10/10/03	111	Genomic	unknown
ss11661184	WI_SSAHASNP\|chr4.NT_016354.15_47237348	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	07/03/03	10/10/03	116	Genomic	unknown
ss22037164	SSAHASNP\|WGSA-200403-chr4.chr4.NT_016354.16_47237348	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	03/20/04	03/20/04	121	Genomic	unknown
ss35032461	WUGSC_SNP\|63B13o1	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	02/01/05		125	Genomic	unknown
ss48429743	APPLERA_GI\|hCV8834024	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	09/28/05	11/03/06	126	Genomic	unknown
ss66094988	AFFY\|SNP_A-1958152	rev/B	C/T	ttttcatcttctaata	aattgacatgtccata	10/27/06	08/14/07	127	Genomic	unknown
ss66863041	EGP_SNPS\|CCNA2_004160	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	11/09/06	08/14/07	127	Genomic	unknown
ss68909964	PERLEGEN\|PGP04751739	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	01/30/07	08/14/07	127	Genomic	unknown
ss74863971	ILLUMINA\|ILMN_Human_1M_rs769242	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	08/28/07	08/29/07	129	Genomic	unknown
ss76053980	AFFY\|AFFY_6_1M_SNP_A-1958152	rev/B	C/T	ttttcatcttctaata	aattgacatgtccata	08/28/07	08/29/07	130	Genomic	unknown
ss77158661	HGSV\|Cor12156_SNV_20070510.chr4_123099822	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	10/09/07	10/11/07	129	Genomic	unknown
ss78060357	HGSV\|Cor12878_SNV_20070510.chr4_123099822	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	10/17/07	10/17/07	129	Genomic	unknown
ss81437375	KRIBB_YJKIM\|KHS63560	fwd/T	A/G	gagtcaccacatactatggacatgtcaatt	tattagaagatgaaaagccagtgagtgtta	11/30/07	11/30/07	130	Genomic	unknown
ss86345928	CANCER-GENOME\|749	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	01/25/08	01/25/08	129	Genomic	unknown
ss92755507	BCMHGSC_JDW\|JWB-1845169	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	02/26/08	03/03/08	129	Genomic	unknown
ss98858681	HUMANGENOME_JCVI\|1103654534316	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	04/01/08	04/02/08	130	Genomic	unknown
ss105858681	BGI\|BGI_rs769242	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	09/12/08	06/18/09	130	Genomic	unknown
ss108293826	1000GENOMES\|CEU.trio.12.15.2008_1074228_chr4_122961667	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	12/15/08	12/15/08	130	Genomic	unknown
ss110514207	1000GENOMES\|NA19240_2008_12_16_970498_chr4_122961667	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	12/16/08	12/17/08	130	Genomic	unknown
ss117169815	ILLUMINA-UK\|NA18507_000166980_NCBI36.1_chr4_122961667	rev/B	C/T	taacactcactggcttttcatcttctaata	aattgacatgtccatagtatgtggtgactc	01/18/09	01/18/09	130	Genomic	99 %

Fasta sequence (Legend)

 TAAGATAATA CCTGATTCTC ATTTTCCTGT TAGGGGCCTA CCAATATGTT TTTTTTTTTT
 TCCCTCATTA ACTAAAATCA TTCCAAAGTT CTATGTACAG AGATACTGAG ACTAGGGTAA
 AATATTCTAC ATATTTTGTC ATGAGAAGCT CTTTTTAGTT TGAAGAAATA AGTGCTTTGT
 TAATATGAGA TTCCTTCCAT GGCAGTCATT TTTAGCTATT AAACTAAATA GGCAAACAAT
 TAATTTAATC ATATCTTTTG AATTGTCCCA GAGTCACCAC ATACTATGGA CATGTCAATT
 R
 TATTAGAAGA TGAAAAGCCA GTGAGTGTTA ATGAAGTACC AGACTACCAT GAGGATATTC
 ACACATACCT TAGGGAAATG GAGGTAAAGG TTCTCTGAAT CCAGTTTGTA TAATGTATTT
 GTTAAATGTG GCTAAATGAA ATTGAGAGGA TAATGTTTAA ATTTTTAAAC TAATGAATTA
 TTCTAATGCT ACAGTTAAGT TTATAGCATG TAGCCTCTCG TAATTAATGG TAAAATAATC
 TAATTGCAGT TTTTACACTA GAATAATTTT AACACTATAA ATAATTTTCT CAATAGGTTA

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_016354.13 ABBA01044731 AC079341 NM_001237 X68303

dbSNP Blast Analysis

UniGene Cluster ID
85137

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss4478779	PDR90	Global	170	IG	0.071	0.929	0.752	0.035	0.965

ss48429743	HapMap-CEU	European	120	IG	0.083	0.917	0.752	0.042	0.958

	HapMap-HCB	Asian	90	IG	0.156	0.844	0.584	0.078	0.922

	HapMap-JPT	Asian	88	IG	0.136	0.864	0.655	0.068	0.932

	HapMap-YRI	Sub-Saharan African	120	IG		1.000			1.000

	AGI_ASP population	multiple	70	IG	0.029	0.971	1.000	0.014	0.986

ss5586326	P1		204	GF	0.039	0.961	1.000	0.019	0.980

	CAUC1		62	GF	0.032	0.968	1.000	0.016	0.984

	AFR1		48	GF		1.000			1.000

	HISP1		46	GF	0.043	0.957	1.000	0.022	0.979

	PAC1		48	GF	0.083	0.917	1.000	0.042	0.959

	CEPH		184	AF					1.000

ss66094988	HapMap-CEU	European	118	GF	0.085	0.915		0.042	0.958

	HapMap-HCB	Asian	90	GF	0.156	0.844		0.078	0.922

	HapMap-JPT	Asian	90	GF	0.133	0.867		0.067	0.933

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			1.000

ss66863041	HSP_GENO_PANEL		120	IG	0.033	0.967	1.000	0.017	0.983

	CEU_GENO_PANEL	European	120	IG	0.083	0.917	0.752	0.042	0.958

	AAM_GENO_PANEL	African American	122	IG	0.016	0.984	1.000	0.008	0.992

	CHB_GENO_PANEL	Asian	90	IG	0.156	0.844	0.584	0.078	0.922

	YRI_GENO_PANEL	Sub-Saharan African	120	IG		1.000			1.000

	JPT_GENO_PANEL	Asian	90	IG	0.133	0.867	0.655	0.067	0.933

ss68909964	HapMap-CEU	European	120	GF	0.083	0.917		0.042	0.958

	HapMap-HCB	Asian	90	GF	0.156	0.844		0.078	0.922

	HapMap-JPT	Asian	90	GF	0.133	0.867		0.067	0.933

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			1.000

ss76053980	ICMHP		10	IG		1.000			1.000

ss869797	NIH90	Global	178	IG	0.067	0.933	0.752	0.034	0.966

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.067+/-0.171	1301	1151	360	0

Validation Summary:

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

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Revised: May 25, 2006 1:38 PM .