Reference SNP(refSNP) Cluster Report: rs1050903

Reference SNP(refSNP) Cluster Report: rs1050903

refSNP ID: rs1050903
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/G
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001343.2:c.-71C>G
NT_006576.15:g.39367250G>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss24445773 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1050903 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
ss1525937	LEE\|428435	fwd/B	C/G	gtgtctgtgggaggttatgtttatttgaga	ttctccatcgggatcgcctggtgtcaccaa	09/13/00	05/16/04	86	cDNA	unknown
ss4416424	LEE\|e428435	fwd/B	C/G	gtgtctgtgggaggttatgtttatttgaga	ttctccatcgggatcgcctggtgtcaccaa	04/26/02	10/10/03	106	cDNA	unknown
ss16245965	CGAP-GAI\|1489716	fwd/B	C/G	gtgtctgtgggaggttatgtttatttgaga	ttctccatcgggatcgcctggtgtcaccaa	11/18/03	11/22/03	120	cDNA	unknown
ss24445773	PERLEGEN\|afd3110567	rev/T	C/G	ttggtgacaccaggcgatcccgatggagaa	tctcaaataaacataacctcccacagacac	08/10/04	09/13/04	123	Genomic	unknown

Fasta sequence (Legend)

 AGCCTATTCT GGCATAAAGT CTGGGTCTGC TGTGTTCTGA TCTCAATATG CCTCTAAACT
 CTGCCTACAG GTGTCTGTGG GAGGTTAT
 GTTTATTTGA GA
 S
 TTCTCCATCG GG
 ATCGCCTGGT GTCACCAAGT GTCCACTGGT ACTGAGGTTT GCTGCCTGCC TTCTTGCCAT
 GTCTAACGAA GTAGAAACAA GTGCAACC

GeneView

GeneView via analysis of contig annotation: DAB2 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)

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_006576->NM_001343

function

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


reference	NT_006576->NM_001343->	39367250	reverse	461	5' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1050903 maps exactly once on NCBI human chromosome 5

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
5	NW_922596.1	4992447	39281933	minus	G	alt_assembly_1	Celera	Celera	view	100
5	NW_001838933.1	3688713	39346102	minus	G	alt_assembly_8	HuRef	HuRef	view	100
5	NT_006576.15	39367250	39430250	minus	G	ref_assembly	reference	reference	view	100

NCBI Resource Links

Submitter-Referenced
GenBank
NC_000005.5 BM920741 Hs.81988

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank STS:
NM_001343.2	BV177709.1

UniGene Cluster ID
481980

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss1525937	CEPH		184	AF					0.670	0.330

ss24445773	AFD_EUR_PANEL	European	48	IG	0.583	0.292	0.125	0.200	0.729	0.271

	AFD_AFR_PANEL	African American	46	IG	0.870	0.130		0.752	0.935	0.065

	AFD_CHN_PANEL	Asian	48	IG	0.708	0.167	0.125	0.020	0.792	0.208

	HapMap-CEU	European	118	IG	0.627	0.305	0.068	0.403	0.780	0.220

	HapMap-HCB	Asian	88	IG	0.591	0.364	0.045	1.000	0.773	0.227

	HapMap-JPT	Asian	90	IG	0.711	0.244	0.044		0.833	0.167

	HapMap-YRI	Sub-Saharan African	120	IG	0.683	0.300	0.017	0.584	0.833	0.167

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.310+/-0.243	332	260	9	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 .