Reference SNP(refSNP) Cluster Report: rs34638261

Reference SNP(refSNP) Cluster Report: rs34638261

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/130
Map to Genome Build:	36.3

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

HGVS Names
NM_001005783.1:c.43G>A
NM_016527.2:c.43G>A
NP_001005783.1:p.Glu15Lys
NP_057611.1:p.Glu15Lys
NT_019273.18:g.15831436G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48427809 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34638261 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
ss48427809	APPLERA_GI\|hCV25999542	fwd/T	A/G	tgtttgacagactttcaggcccatgcgcga	agcagctgtctaagtcaactcgggatttta	09/28/05	11/03/06	126	Genomic	unknown
ss68779496	PERLEGEN\|PGP17791632	fwd/T	A/G	tgtttgacagactttcaggcccatgcgcga	agcagctgtctaagtcaactcgggatttta	01/30/07	03/31/08	127	Genomic	unknown
ss85327735	HGSV\|Cor19129_SNV_20070510.chr1_119635793	fwd/T	A/G	tgtttgacagactttcaggcccatgcgcga	agcagctgtctaagtcaactcgggatttta	12/06/07	12/09/07	130	Genomic	unknown
ss111084951	1000GENOMES\|NA19240_2008_12_16_140248_chr1_119725274	fwd/T	A/G	tgtttgacagactttcaggcccatgcgcga	agcagctgtctaagtcaactcgggatttta	12/16/08	12/17/08	130	Genomic	unknown

Fasta sequence (Legend)

 AATACTCAGA AGGCCAAATA ATCAGGATTT GGGAATGGGA ATGGGAATGG GAGAATGGAA
 GGGTGGACGA TTACTCTCTG CCTTCTGGCT TAGGGATCAC TGGCTTTAGC AATAACTCTG
 TTAAGATAAG AATACAGGGA GACCAATGTT GAATCCAAAC AATTTCATAC TGCAGCTTCC
 CCTTCATTTC CTTTTCTGCA TCTGAAGTGT TCTCACTGGG TTTGGTTTGG TTTTGTTTTC
 TCCTTGGAAG GTCCAGAAAT GTCCTTGGTG TGTTTGACAG ACTTTCAGGC CCATGCGCGA
 R
 AGCAGCTGTC TAAGTCAACT CGGGATTTTA TTGAAGGTGG AGCAGATGAC AGCATCACGC
 GGGATGACAA CATTGCAGCA TTTAAAAGGT GTGGTCTTCT GTAGCCTGTC TATTGTTAGG
 TTAAGGTGCA CTGGTGGAGA GCAACTTGGA CAGTAGTAGT CCTGGTTTCT GCCTCCAAAA
 AACACAGATC ACTCAAGACC TAATAATGTG GATGATTTTG TTGTTGTTTT GGTTTGTTAG
 GGCAGGGGAG GGAGGGCTGA TGGGAAGATG GAAAAAGAGG GAATTTCTGT TATAGCCAGC

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_000001.8

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48427809	AGI_ASP population	multiple	78	IG		0.077	0.923	1.000	0.038	0.962

ss68779496	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	0.050	0.150	0.800		0.125	0.875

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.070+/-0.173	309	249	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 .