Reference SNP(refSNP) Cluster Report: rs9614462

Reference SNP(refSNP) Cluster Report: rs9614462

refSNP ID: rs9614462
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	119/129
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_148674.3:c.2962-236C>T
NT_011523.11:g.1021937G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44296171 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9614462 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
ss13370232	SC_SNP\|NT_011522.4_1017442	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	10/22/03	10/31/03	119	Genomic	unknown
ss19501581	CSHL-HAPMAP\|CSHL-HuDD-200402.chr22.NT_011522.4_1017442	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	02/20/04	03/04/04	120	Genomic	unknown
ss21864128	SSAHASNP\|WGSA-200403-chr22.chr22.NT_011522.4_1017442	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	03/20/04	03/20/04	121	Genomic	unknown
ss24571187	PERLEGEN\|afd0140834	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	08/10/04	09/13/04	123	Genomic	unknown
ss44296171	ABI\|hCV336544	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	07/18/05	11/03/06	126	Genomic	unknown
ss66330238	AFFY\|SNP_A-1920194	fwd/T	A/G	ttaatctgggtaaaga	caacaatttatacttc	10/29/06	10/29/06	127	Genomic	unknown
ss75316733	ILLUMINA\|ILMN_Human_1M_rs9614462	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	08/28/07	08/29/07	129	Genomic	unknown
ss76026334	AFFY\|AFFY_6_1M_SNP_A-1920194	fwd/T	A/G	ttaatctgggtaaaga	caacaatttatacttc	08/28/07	08/29/07	129	Genomic	unknown
ss83573368	HGSV\|Cor18956_SNV_20070510.chr22_44071768	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	11/30/07	12/05/07	130	Genomic	unknown
ss91941001	BCMHGSC_JDW\|JWB-1534594	fwd/T	A/G	tttcagctcattttttaatctgggtaaaga	caacaatttatacttcaccttcatttattt	02/26/08	03/02/08	129	Genomic	unknown

Fasta sequence (Legend)

 TGGGATGCTA CTTGCTGCAA TAAGAGCCTA AGGTGGGCCT CGATTTCTTG ATCAGACTGT
 AGAGCCTATT ATGGGCAAAG AACAACACTG ACTGGCATGG CATGTCTTTT ACATCCAGCA
 AGGTAGGGTG CGTGTGTGGG GCACTTCACC ATCCCAGGTC CCTGTGCATC CACTCCTTCT
 CTCCCCAAAG CCCTCTCTGA GCCTGGAGGT GCAGTCCTGC TGCAATATTT GTAGCTTCCT
 GAGTCGGCAG TGCTCTTTTC TTTGAACACA TTTCAGCTCA TTTTTTAATC TGGGTAAAGA
 R
 CAACAATTTA TACTTCACCT TCATTTATTT AAAAATATTC ATAATCTACT ATGTATTACA
 CTGAGGATTC AATGATGGAA GCTATTCAGT CTTTGCCTTT AAAGACTTAC AGGGAAGTCA
 GACATATAAA CTGGATTAAA AATTTTTTGT AAGAGACAGG TCTCACTCTG TTGCTCAGGC
 TGGTCTTGAG CTCCTGACCT TAAGCAATCC TCCCACTTCA GCCTCCCGAG TAGCTGGGAT
 TTAAACCAGC TTTTACAGCG AAGTGAAAAG ACTTCTAATA GGGCAAGCAT AGGTACTACG

GeneView

GeneView via analysis of contig annotation: SMC1B structural maintenance of chromosomes 1B

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_011523->NM_148674

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_011523->NM_148674->NP_683515	1021937	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs9614462 maps exactly once on NCBI human chromosome 22

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
22	NW_001838751.1	275592	28697356	plus	A	alt_assembly_8	HuRef	HuRef	view	300
22	NW_927650.1	2842267	29662634	plus	A	alt_assembly_1	Celera	Celera	view	300
22	NT_011523.11	1021937	44129895	plus	G	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011522

dbSNP Blast Analysis
GenBank HTGS Finished:
AL008718.23

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss24571187	AFD_EUR_PANEL	European	48	IG	0.167	0.375	0.458	0.403	0.354	0.646

	AFD_AFR_PANEL	African American	46	IG		0.130	0.870	0.752	0.065	0.935

	AFD_CHN_PANEL	Asian	48	IG	0.083	0.458	0.458	0.752	0.312	0.688

ss44296171	HapMap-CEU	European	118	IG	0.407	0.356	0.237		0.585	0.415

	HapMap-HCB	Asian	90	IG	0.089	0.333	0.578	0.439	0.256	0.744

	HapMap-JPT	Asian	90	IG	0.244	0.622	0.133	0.150	0.556	0.444

	HapMap-YRI	Sub-Saharan African	120	IG			1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.432+/-0.171	332	260	9	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .