Reference SNP(refSNP) Cluster Report: rs1052344

Reference SNP(refSNP) Cluster Report: rs1052344

refSNP ID: rs1052344
Organism:	human (Homo sapiens)
Molecule Type:	cDNA
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:	Not available
Clinical Association:	unknown

HGVS Names

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss24817357 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1052344 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
ss1528600	LEE\|492988	fwd/B	C/G	ctgcatgttgtacaggggggacgtggtccc	aaagatgtcaacgcggccatcgccaccatc	09/13/00	10/10/03	86	cDNA	unknown
ss4418392	LEE\|e492988	fwd/B	C/G	ctgcatgttgtacaggggggacgtggtccc	aaagatgtcaacgcggccatcgccaccatc	04/26/02	10/10/03	106	cDNA	unknown
ss24817357	SEQUENOM\|sqnm215776	fwd/B	C/G	ctgcatgttgtacaggggggacgtggtccc	aaagatgtcaacgcggccatcgccaccatc	06/18/04	08/05/04	124	cDNA	unknown

Fasta sequence (Legend)

 CCAATGCCTG CTTCGAGCCA GCCAATCAGA TGGTCAAGTG TGACCCTCGC CACGGCAAGT
 ACATGGCCTG CTGCATGTTG TACAGGGGGG ACGTGGTCCC
 S
 AAAGATGTCA ACGCGGCCAT CGCCACCATC AAGACCAAGC GCACCATCCA GTTTGTAGAT
 TGGTGCCCAA CTGGATTTAA GGTGGGCATT AACTACCAGC

GeneView

GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1052344 was not linked to the human genome 36.3 because it aligned to more than 2 locations on the genome.

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
13	NW_001838069.1	556211	556211	minus	C	alt_assembly_8	HuRef	HuRef	view	100
13	NW_925473.1	548311	813087	minus	C	alt_assembly_1	Celera	Celera	view	100
13	NT_024524.13	731148	18649148	minus	C	ref_assembly	reference	reference	view	100
2	NW_001838859.2	17457659	124231697	minus	G	alt_assembly_8	HuRef	HuRef	view	100
2	NT_022135.15	20946163	131954711	plus	C	ref_assembly	reference	reference	view	100
Un	NW_924467.1	556	unplaced	plus	C	alt_assembly_1	Celera	Celera	view	100

NCBI Resource Links

Submitter-Referenced
dbSTS	GenBank
sqnm215776	AL044269 Hs.98102

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank STS:	GenBank mRNA:
NM_006001.1 NM_080386.2 NM_207312.2	BV204618.1	BC011721.2

UniGene Cluster ID
349695 503749

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	C	G
ss24817357	CEPH		184	AF		0.130	0.870

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.226+/-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 .