Reference SNP(refSNP) Cluster Report: rs3814621

Reference SNP(refSNP) Cluster Report: rs3814621

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	107/130
Map to Genome Build:	36.3

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

HGVS Names
NM_014753.2:c.1654T>C
NP_055568.2:p.Ser552Pro

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss74815519 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3814621 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
ss5001033	YUSUKE\|IMS-JST174921	fwd/T	A/G	tcacacggtcactctggcaattagctggtg	cagccctgctttactaccttctccagcagc	08/12/02	10/25/06	107	Genomic	unknown
ss69077318	PERLEGEN\|PGP04758997	rev/B	C/T	gctgctggagaaggtagtaaagcagggctg	caccagctaattgccagagtgaccgtgtga	01/30/07	03/31/08	127	Genomic	unknown
ss74815519	AFFY\|SNP_M-310122	fwd/T	A/G	tcacacggtcactctggcaattagctggtg	cagccctgctttactaccttctccagcagc	08/09/07	03/31/08	128	Genomic	unknown

Fasta sequence (Legend)

 TCAGCTGTGC AATGCCCAGA ATCGAAAGTG GGGAGAGCTG CTTTCTTCAT CAGCAAAGAC
 TTCTCCAGAT TCACACGGTC ACTCTGGCAA TTAGCTGGTG
 R
 CAGCCCTGCT TTACTACCTT CTCCAGCAGC CTTTGATCCT GAAATGCCCT TCTCTCCTGC
 AGTGCAGTCC TCTTCTTCAC TGCTTTCATC AGCTTCCTCC

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_030071.1

dbSNP Blast Analysis

UniGene Cluster ID
10848

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	HWP	A	G
ss5001033	HapMap-CEU	European	116	IG	1.000			1.000

	HapMap-HCB	Asian	88	IG	0.932	0.068	1.000	0.966	0.034

	HapMap-JPT	Asian	86	IG	0.977	0.023	1.000	0.988	0.012

	HapMap-YRI	Sub-Saharan African	116	IG	1.000			1.000

ss69077318	HapMap-CEU	European	120	GF	1.000			1.000

	HapMap-HCB	Asian	90	GF	0.933	0.067		0.967	0.033

	HapMap-JPT	Asian	90	GF	0.978	0.022		0.989	0.011

	HapMap-YRI	Sub-Saharan African	120	GF	1.000			1.000

ss74815519	HapMap-CEU	European	116	IG	1.000			1.000

	HapMap-HCB	Asian	88	IG	0.932	0.068		0.966	0.034

	HapMap-JPT	Asian	86	IG	0.977	0.023		0.988	0.012

	HapMap-YRI	Sub-Saharan African	116	IG	1.000			1.000

Concordant Genotype	Total Sample	A/A	A/G
ss74815519	524	257	4

RefSNP Genotype Summary	Total Individual	A/A	A/G
rs3814621	525	257	4

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
5286	ss74815519	A/A	CSHL-HAPMAP	HapMap-YRI	NA19211	YOR050.01	r27_ch10_YRI_bcm:genotype_0002

Genotype data submitted for	525	samples from	525	individuals	Individual with multiple genotypes submission:	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 .