Reference SNP(refSNP) Cluster Report: rs17500724

Reference SNP(refSNP) Cluster Report: rs17500724

refSNP ID: rs17500724
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	123/129
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_001100161.1:c.2265-370G>A
NM_001100162.1:c.2241-370G>A
NM_015024.4:c.2238-370G>A
NT_023666.17:g.226947G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss24652306 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17500724 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
ss24652306	PERLEGEN\|afd1882849		fwd/T	A/G	cttttacaaattaggaagtctaactttact	acttcatacccttgtgaagattatttcaaa	08/10/04	08/21/04	123	Genomic			unknown

Fasta sequence (Legend)

 CCAGCCTGGG CGACAGAGCG AGACTCCATC TCAAAAAAAA ATAAATAATA ATAATAATAA
 TAATAAACAG CTTTTACAAA TTAGGAAG
 TCTAACTTTA CT
 R
 ACTTCATACC CT
 TGTGAAGATT ATTTCAAATC CAGGTGCCTC TTTAATAGTT ATGTAAAGGA AATGAGCTGA
 TCCCATATAA TACCATAGAA GTGATGAA

GeneView

GeneView via analysis of contig annotation: XPO7 exportin 7

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_023666->NM_001100161

function

reference

NT_023666->NM_001100162

function

reference

NT_023666->NM_015024

function

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


reference	NT_023666->NM_001100161->NP_001093631	226947	forward	intron

reference	NT_023666->NM_001100162->NP_001093632	226947	forward	intron

reference	NT_023666->NM_015024->NP_055839	226947	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs17500724 maps exactly once on NCBI human chromosome 8

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
8	NW_001839127.1	228454	20395353	plus	G	alt_assembly_8	HuRef	HuRef	view	100
8	NW_923907.1	9382553	20814715	plus	G	alt_assembly_1	Celera	Celera	view	100
8	NT_023666.17	226947	21908579	plus	G	ref_assembly	reference	reference	view	100

NCBI Resource Links

Submitter-Referenced
GenBank
NC_000008.6

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
ss24652306	AFD_EUR_PANEL	European	48	IG	0.042	0.958	1.000	0.021	0.979

	AFD_AFR_PANEL	African American	46	IG		1.000			1.000

	AFD_CHN_PANEL	Asian	48	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.014+/-0.082	71	50	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 .