Reference SNP(refSNP) Cluster Report: rs8043515

Reference SNP(refSNP) Cluster Report: rs8043515

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/130
Map to Genome Build:	36.3

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

HGVS Names
NM_198141.2:c.31C>G
NP_937784.2:p.Leu11Val
NT_010194.16:g.13359104C>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss90137008 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8043515 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
ss12345868	WI_SSAHASNP\|chr15.NT_010194.15_13358158	fwd/B	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	07/04/03	10/25/06	116	Genomic	unknown
ss20006536	CSHL-HAPMAP\|CSHL-HuFF-200402.chr15.NT_010194.16_13359104	fwd/B	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	02/21/04	03/04/04	120	Genomic	unknown
ss21236871	SSAHASNP\|WGSA-200403-chr15.chr15.NT_010194.16_13359104	fwd/B	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	03/19/04	03/19/04	121	Genomic	unknown
ss69174798	PERLEGEN\|PGP04772189	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	01/30/07	03/31/08	127	Genomic	unknown
ss83639807	HGSV\|Cor18555_SNV_20070510.chr15_40355839	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	11/27/07	12/05/07	130	Genomic	unknown
ss90137008	BCMHGSC_JDW\|JWB-0847796	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	02/26/08	02/29/08	129	Genomic	unknown
ss96753843	HUMANGENOME_JCVI\|1103645596001	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	03/27/08	03/27/08	130	Genomic	unknown
ss106424847	BGI\|BGI_rs17857488	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	09/15/08	06/18/09	130	Genomic	unknown
ss108769163	1000GENOMES\|CEU.trio.12.15.2008_3152541_chr15_40355839	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	12/15/08	12/16/08	130	Genomic	unknown
ss114086625	1000GENOMES\|NA19240_2008_12_16_2828277_chr15_40355839	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	12/18/08	12/18/08	130	Genomic	unknown
ss118203908	ILLUMINA-UK\|NA18507_000026156_NCBI36.1_chr15_40355839	fwd/	C/G	taaatttctcaaaatgtctttttatttagt	ttgaagatgaagctgtagataaaaacattt	01/20/09	01/20/09	130	Genomic	99 %

Fasta sequence (Legend)

 TTTTCCCATT ACTTTTGGAG TAATCCCAGA ACCTGATGTT TTGTTGTTTA CCTCAGAGGG
 TTTACAAAAG GCTATTGTTC TGCAACATAA TGTGCTATTA TGTTATACTG TGGCCGTGAC
 ACAATTTTGC ATTGCAGAAT AGACTCCAAA GGTTTATTTT GCATGTTCAT ACTGTCGTTA
 GAGAAGGTAC AAAAGTTGGA TTCACAAGCC CTGTGTGAAA TAAATTTCTC AAAATGTCTT
 TTTATTTAGT
 S
 TTGAAGATGA AGCTGTAGAT AAAAACATTT TCAGAGACTG TAACAAGATC GCATTTTACA
 GGTAAGGAAA ATAAATATAG TAGCTAGATC AAAACATCTC TGACAGTATT TCAAAATTGA
 TGCTTATTAA ATTTTTGGAA CTGATAGACT TTCCAAGGAA AGGATAATTT AATAATTAAG
 GAAATCATCA GACAGGAGAC TCACTTTTAA CTTTATACAT TTACTCCTGA AGTATTTAAA
 TTTTTCAATA

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_010194 ABBA01038379

dbSNP Blast Analysis

UniGene Cluster ID
143261

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss12345868	HapMap-CEU	European	120	IG			1.000			1.000

	HapMap-HCB	Asian	90	IG		0.111	0.889	0.752	0.056	0.944

	HapMap-JPT	Asian	90	IG		0.111	0.889	0.752	0.056	0.944

	HapMap-YRI	Sub-Saharan African	120	IG	0.017	0.167	0.817	0.584	0.100	0.900

ss69174798	HapMap-CEU	European	120	GF			1.000			1.000

	HapMap-HCB	Asian	90	GF		0.133	0.867		0.067	0.933

	HapMap-JPT	Asian	90	GF		0.111	0.889		0.056	0.944

	HapMap-YRI	Sub-Saharan African	120	GF	0.017	0.167	0.817		0.100	0.900

Concordant Genotype	Total Sample	C/C	C/G	G/G
ss69174798	269	1	25	243
ss90137008	524	1	25	242
ss96753843	1			1

RefSNP Genotype Summary	Total Individual	C/C	C/G	G/G
rs8043515	526	1	25	244

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
5170	ss69174798	C/G	CSHL-HAPMAP	HapMap-HCB	NA18566	CH18566	chr15-HapMap-HCB
5170	ss90137008	G/G	CSHL-HAPMAP	HapMap-HCB	NA18566	CH18566	r27_ch15_CHB_perlegen:genotyping_1.0.0

Genotype data submitted for	526	samples from	526	individuals	Individual with multiple genotypes submission:	270

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 .