Reference SNP(refSNP) Cluster Report: rs2303312

Reference SNP(refSNP) Cluster Report: rs2303312

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_020299.3:c.259C>T
NP_064695.2:p.Pro87Ser
NT_007933.14:g.59263564C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss83046387 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2303312 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
ss3249847	YUSUKE\|IMS-JST059932	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	09/05/01	10/10/03	100	Genomic	unknown
ss76877646	CGM_KYOTO\|719982	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	09/12/07	09/12/07	129	cDNA	unknown
ss83046387	HGSV\|Cor18956_SNV_20070510.chr7_133673939	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	11/30/07	12/04/07	130	Genomic	unknown
ss95210583	CNG\|29945407	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	03/13/08	03/13/08	129	Genomic	unknown
ss104470075	BGI\|BGI_rs2303312	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	06/08/08	06/18/09	130	Genomic	unknown
ss104869136	KRIBB_YJKIM\|KHS1261454	fwd/B	C/T	ttgcagttgtggcccactttctttgagaga	cccttgtgaggaaagcctttgagaagaccc	07/10/08	07/10/08	130	Genomic	unknown

Fasta sequence (Legend)

 CATTGAGGTG CTGAGCCCTG GTGATGTTCC ACACTGTGTC GTGGATCTTA ATCAGCTTTG
 TTACAAATGG CTTGTGGTGG GTTAGATGAG GATGCAAATC AAAAAGCAGG GACAATGAGT
 ACAATGTGGC CCTTCCTTTT CCCAGTATTA ATAGCTCATT GCTACACTCT TTGCAGTTGT
 GGCCCACTTT CTTTGAGAGA
 Y
 CCCTTGTGAG GAAAGCCTTT GAGAAGACCC TCAAGGACCT GAAGCTGAGC TATCTGGACG
 TCTATCTTAT TCACTGGCCA CAGGGATTCA AGGTTTAAGA CACTCTCTTT CTCAGCCTCT
 AGTTTCTGAG CAGGTGCCAG AAAATAGTAG CTGCACCAGG GCTGTGGGGT GGTGTGGACT
 GGGGCAGGAG GCCTTGCATT

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_007933.14

dbSNP Blast Analysis

UniGene Cluster ID
116724

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss3249847	JBIC-allele		1302	AF					0.766	0.234

	HapMap-CEU	European	118	IG	0.966	0.034			0.983	0.017

	HapMap-HCB	Asian	90	IG	0.533	0.444	0.022		0.756	0.244

	HapMap-JPT	Asian	90	IG	0.600	0.333	0.067		0.767	0.233

	HapMap-YRI	Sub-Saharan African	120	IG	1.000				1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.192+/-0.243	1034	863	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .