Reference SNP(refSNP) Cluster Report: rs16929374

Reference SNP(refSNP) Cluster Report: rs16929374

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_000550.1:c.977G>A
NM_000550.2:c.977G>A
NP_000541.1:p.Arg326His
NT_008413.17:g.12692334G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48423877 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs16929374 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
ss23414456	PERLEGEN\|afd0864131	fwd/T	A/G	ctggaaatgtggccagaccaatggtgcaac	tcttcctgaaccacaggatgtcgctcagtg	08/10/04	09/13/04	123	Genomic	unknown
ss48423877	APPLERA_GI\|hCV25605557	rev/B	C/T	cactgagcgacatcctgtggttcaggaaga	gttgcaccattggtctggccacatttccag	09/28/05	03/31/08	126	Genomic	unknown
ss69283004	PERLEGEN\|PGP00864131	fwd/T	A/G	ctggaaatgtggccagaccaatggtgcaac	tcttcctgaaccacaggatgtcgctcagtg	01/30/07	01/30/07	127	Genomic	unknown
ss74818418	AFFY\|SNP_M-317528	fwd/T	A/G	ctggaaatgtggccagaccaatggtgcaac	tcttcctgaaccacaggatgtcgctcagtg	08/09/07	08/09/07	128	Genomic	unknown
ss74879869	ILLUMINA\|ILMN_Human_1M_rs16929374	fwd/T	A/G	ctggaaatgtggccagaccaatggtgcaac	tcttcctgaaccacaggatgtcgctcagtg	08/28/07	08/29/07	129	Genomic	unknown
ss76796349	AFFY\|AFFY_6_1M_SNP_A-8657935	rev/B	C/T	ctgtggttcaggaaga	gttgcaccattggtct	08/28/07	08/30/07	130	Genomic	unknown

Fasta sequence (Legend)

 GATTCTTTTT TTTCCTTCAG ATACTTTTAT GTATCTCATA TCTACTTGAT TCAAAGAAAT
 GGGACATGGT AACTTAGATT TTCTCATTTT AATGCTACCA AGTATGCATT TTTAAATTTT
 CTTTTCTACC AAGGAAAACC TATATTTCAT ATTCATGCTA TGTATAAAGT TTTAAAGAGC
 GACAATAAGA ACTCCAAACA TTGTGTAAAT GTTTCCACAT CCCATTTTTT TCTGCAGGCA
 CCGAGGATGG GCCAATTAGG AGAAATCCAG CTGGAAATGT GGCCAGACCA ATGGTGCAAC
 R
 TCTTCCTGAA CCACAGGATG TCGCTCAGTG CTTGGAAGTT GGTTTATTTG ACACGCCTCC
 TTTTTATTCC AACTCTACAA ACAGTTTCCG AAACACAGTG GAAGGCAAGT AAATGAAATC
 AGTATTTTTA AAAGATCTAG TTATCAGAGA AAACTGAATT ATTCAAAAGC AAGTTTCTTT
 GAGAAGGCTT TGAATAGTAT ATTAATCCTG TGTGTTTATG TGAATGAGAT TTTCTATTAT
 GATACACCTG CTTGAAAAAG GAACTTTCTT AAAAAGAAGA GTCAACCATG AAGCTCTTTT

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_000009.9

dbSNP Blast Analysis

UniGene Cluster ID
270279

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss23414456	AFD_EUR_PANEL	European	48	IG		1.000			1.000

	AFD_AFR_PANEL	African American	46	IG	0.087	0.913	1.000	0.043	0.957

	AFD_CHN_PANEL	Asian	48	IG		1.000			1.000

ss48423877	HapMap-CEU	European	116	IG		1.000			1.000

	HapMap-HCB	Asian	88	IG		1.000			1.000

	HapMap-JPT	Asian	86	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	116	IG	0.017	0.983		0.009	0.991

	AGI_ASP population	multiple	76	IG	0.026	0.974	1.000	0.013	0.987

ss69283004	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	0.017	0.983		0.008	0.992

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.010+/-0.068	963	779	15	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 .