Reference SNP(refSNP) Cluster Report: rs5951

Reference SNP(refSNP) Cluster Report: rs5951

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	52/130
Map to Genome Build:	36.3

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

HGVS Names
NM_005139.2:c.56G>A
NP_005130.1:p.Ser19Asn
NT_016354.18:g.4042095G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48422416 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5951 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
ss7560	WIAF-CSNP\|WIAF-11200	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	07/15/99	04/07/04	52	Genomic	unknown
ss48422416	APPLERA_GI\|hCV11313697	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	09/28/05	11/03/06	126	Genomic	unknown
ss67786093	ILLUMINA\|HumanHap650Yv1.0_rs5951	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	11/14/06	11/14/06	127	Genomic	unknown
ss68902912	PERLEGEN\|PGP04038112	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	01/30/07	08/14/07	127	Genomic	unknown
ss71436525	ILLUMINA\|HumanHap650Yv3.0_rs5951	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	04/23/07	04/23/07	127	Genomic	unknown
ss74810223	AFFY\|SNP_M-183584	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	08/09/07	08/09/07	128	Genomic	unknown
ss75374873	ILLUMINA\|ILMN_Human_1M_rs5951	fwd/T	A/G	gaggaacagtaagagattatccagacttta	cccatcagtggatgctgaagctattcagaa	08/28/07	08/29/07	129	Genomic	unknown
ss76759825	AFFY\|AFFY_6_1M_SNP_A-8621175	fwd/T	A/G	gattatccagacttta	cccatcagtggatgct	08/28/07	08/30/07	129	Genomic	unknown

Fasta sequence (Legend)

 GAAGTTAGTT TGCCCCACAC CCAGGAATGA GCAAAGACAG CCAGCCTGTG AGGCTAGAAG
 CAAGATGGAG TCAACCATGT CAGATTTCTC TTACTGTCAT AATTTTCCAA AGGCAATTTC
 AGAGCCACTC CTGAAGTGGT AGGAAGGTGT GCGAATTATG GGTTTGTCAT ATGCCTCTCA
 TATGCATGAA GGAATATGCA TATGTAATAC AAGAAAGATG TCATTTTGAA CCAATGGGAC
 TTTCAAGTAT TTCCTTCTAG GTTGGACACC GAGGAACAGT AAGAGATTAT CCAGACTTTA
 R
 CCCATCAGTG GATGCTGAAG CTATTCAGAA AGCAATCAGA GGAATTGGTG AGTGATATTT
 TACAATTCCT TTCTTAATGT TGAAGCAAAT CAGGCAAGTT ACAATCTAAA AGTTCAGTTT
 GCTCAGATTG GCTTACTCAA TTTAATAAAT TGTCAGGAAT TTTCTAAAAT TGTGAAATAA
 CGAGGAAATA TATAGAGAAC CCAGTTTTAT TAAATCTTAA CATTTATCAT ATTTACTTAA
 TATTAAAAAT TACCACTGAT ACTAGTGGTC TAGGGGAGAT CCCCAAATGC CGGGGGAATC

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
NC_000004.9

dbSNP Blast Analysis

UniGene Cluster ID
480042

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss48422416	HapMap-CEU	European	120	IG		1.000			1.000

	HapMap-HCB	Asian	90	IG		1.000			1.000

	HapMap-JPT	Asian	82	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG	0.150	0.850	0.584	0.075	0.925

	AGI_ASP population	multiple	78	IG	0.026	0.974	1.000	0.013	0.987

ss68902912	HapMap-CEU	European	120	GF		1.000			1.000

	HapMap-HCB	Asian	90	GF		1.000			1.000

	HapMap-JPT	Asian	90	GF		1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.150	0.850		0.075	0.925

ss7560	WIAF-CSNP-POP1		108	AF				0.025	0.975

	CEPH		184	AF					1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.041+/-0.137	908	730	270	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	YES	UNKNOWN

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Revised: May 25, 2006 1:38 PM .