Reference SNP(refSNP) Cluster Report: rs17155937

Reference SNP(refSNP) Cluster Report: rs17155937

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	123/130
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_012328.1:c.407G>A
NP_036460.1:p.Arg136His
NT_007933.14:g.33397108G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48410167 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17155937 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
ss23427596	PERLEGEN\|afd0549083	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	08/10/04	09/13/04	123	Genomic	unknown
ss48410167	APPLERA_GI\|hCV25644729	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	09/28/05	11/03/06	126	Genomic	unknown
ss66468565	AFFY\|SNP_A-2262377	rev/B	C/T	gaaatgattttcaaaa	gcttcttggatccagt	10/29/06	03/31/08	127	Genomic	unknown
ss69025150	PERLEGEN\|PGP00549083	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	01/30/07	03/31/08	127	Genomic	unknown
ss74910657	ILLUMINA\|ILMN_Human_1M_rs17155937	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	08/28/07	08/29/07	129	Genomic	unknown
ss76273661	AFFY\|AFFY_6_1M_SNP_A-2262377	rev/B	C/T	gaaatgattttcaaaa	gcttcttggatccagt	08/28/07	08/30/07	129	Genomic	unknown
ss83215427	KRIBB_YJKIM\|KHS420813	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	11/30/07	12/04/07	130	Genomic	unknown
ss116242600	ILLUMINA-UK\|NA18507_000134639_NCBI36.1_chr7_108000768	fwd/T	A/G	gtcaaaaccaaaacactggatccaagaagc	ttttgaaaatcatttccagacacgccagga	01/16/09	01/17/09	130	Genomic	99 %

Fasta sequence (Legend)

 AAATTCTTCC CTAAAATAAT AGTATTCAGT TCACTTGCTT GAAGAGATTT GAATATATGT
 AATTTTGAAT ATTTTACCTT CAGTTACTAA AAATATTTTT GTCACTTTCA GCATATGAAA
 CACTCTCAGA TGCTAATAGA CGAAAAGAGT ATGATACACT TGGACACAGT GCTTTTACTA
 GTGGTAAAGG ACAAAGAGGT AGTGGAAGTT CTTTTGAGCA GTCATTTAAC TTCAATTTTG
 ATGACTTATT TAAAGACTTT GGCTTTTTTG GTCAAAACCA AAACACTGGA TCCAAGAAGC
 R
 TTTTGAAAAT CATTTCCAGA CACGCCAGGA TGGTGGTTCC AGTAGACAAA GGCATCATTT
 CCAAGAATTT TCTTTTGGAG GTGGATTATT TGATGACATG TTTGAAGATA TGGAGAAAAT
 GTTTTCTTTT AGTGGTTTTG ACTCTACCAA TCAGCATACA GTACAGACTG AAAATAGATT
 TCATGGATCT AGCAAGCACT GCAGGACTGT CACTCAACGA AGAGGAAATA TGGTTACTAC
 ATACACTGAC TGTTCAGGAC AGTAGTTCTT ATTCTATTCT CACTAAATCC AACTGGTTGA

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_000007.8

dbSNP Blast Analysis

UniGene Cluster ID
6790

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss23427596	AFD_EUR_PANEL	European	46	IG			1.000			1.000

	AFD_AFR_PANEL	African American	42	IG		0.143	0.857	0.752	0.071	0.929

	AFD_CHN_PANEL	Asian	46	IG			1.000			1.000

ss48410167	HapMap-CEU	European	120	IG			1.000			1.000

	HapMap-HCB	Asian	90	IG			1.000			1.000

	HapMap-JPT	Asian	90	IG			1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG	0.051	0.237	0.712	0.251	0.169	0.831

	AGI_ASP population	multiple	76	IG		0.079	0.921	1.000	0.039	0.961

ss66468565	HapMap-CEU	European	118	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	0.250	0.700		0.175	0.825

ss69025150	HapMap-CEU	European	120	GF			1.000			1.000

	HapMap-HCB	Asian	90	GF		0.022	0.978		0.011	0.989

	HapMap-JPT	Asian	90	GF			1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.050	0.250	0.700		0.175	0.825

ss76273661	ICMHP		10	IG			1.000			1.000

Concordant Genotype	Total Sample	A/A	A/G	G/G
ss23427596	71		3	64
ss48410167	906	5	84	637
ss66468565	267
ss69025150	268	3	25	240
ss76273661	5

RefSNP Genotype Summary	Total Individual	A/A	A/G	G/G
rs17155937	969	5	89	699

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
5170	ss48410167	G/G	CSHL-HAPMAP	HapMap-HCB	NA18566	CH18566	r27_ch7_CHB_perlegen:genotyping_1.0.0	3597721
5170	ss66468565	C/C	CSHL-HAPMAP	HapMap-HCB	NA18566	CH18566	chr7-HapMap-HCB
5170	ss69025150	A/G	CSHL-HAPMAP	HapMap-HCB	NA18566	CH18566	chr7-HapMap-HCB
5280	ss48410167	A/A	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	r27_ch7_YRI_affymetrix:genomewidesnp_6.0	3597721
5280	ss66468565	C/T	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	chr7-HapMap-YRI
5280	ss69025150	A/A	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	chr7-HapMap-YRI

Genotype data submitted for	984	samples from	969	individuals	Individual with multiple genotypes submission:	276

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 .