Reference SNP(refSNP) Cluster Report: rs671

Reference SNP(refSNP) Cluster Report: rs671

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	36/130
Map to Genome Build:	36.3
Citation:	PubMed

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

HGVS Names
NM_000690.2:c.1510G>A
NP_000681.2:p.Glu504Lys
NT_009775.16:g.2811275G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss22886662 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs671 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	Ancestral Allele	Success Rate
ss676	WIAF\|WIAF-1442	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgg	01/23/99	10/10/03	36	Genomic		unknown
ss3177110	WICVAR\|WI-21616	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtcacagtcaaagtgcctc	06/28/01	04/07/04	102	cDNA		unknown
ss5586234	SNP500CANCER\|ALDH2-06	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	09/26/02	04/07/04	113	Genomic		unknown
ss6312391	RIKENSNPRC\|ssj0008061	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	01/15/03	10/10/03	111	Genomic		unknown
ss6396276	KIDDLAB\|SI000734O	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	02/10/03	04/07/04	111	Genomic	G	unknown
ss22886662	IMCJ-GDT\|IMCJ-ALDH2_11-AG	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	03/22/04	10/26/06	121	Genomic		unknown
ss23975064	PERLEGEN\|afd4140194	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	08/10/04	09/13/04	123	Genomic		unknown
ss69120732	PERLEGEN\|PGP04140194	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	01/30/07	08/14/07	127	Genomic		unknown
ss74897004	ILLUMINA\|ILMN_Human_1M_rs671	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	08/28/07	08/29/07	129	Genomic		unknown
ss80753382	KRIBB_YJKIM\|KHS1000009	fwd/T	A/G	ttgggcgagtacgggctgcaggcatacact	aagtgaaaactgtgagtgtgggacctgctg	11/26/07	11/26/07	130	Genomic		unknown

Fasta sequence (Legend)

 AAAAATAAAA TAAAGACTTT GGGGCAATAC AGGGGGTCCT GGGAGTGTAA CCCATAACCC
 CCAAGAGTGA TTTCTGCAAT CTCGTTTCAA ATTACAGGGT CAACTGCTAT GATGTGTTTG
 GAGCCCAGTC ACCCTTTGGT GGCTACAAGA TGTCGGGGAG TGGCCGGGAG TTGGGCGAGT
 ACGGGCTGCA GGCATACACT
 R
 AAGTGAAAAC TGTGAGTGTG GGACCTGCTG GGGGCTCAGG GCCTGTTGGG GCTTGAGGGT
 CTGCTGGTGG CTCGGAGCCT GCTGGGGGAT TGGGGTCTGT TGGGGGCTCG GGGCCTGCCA
 GAGGTTCAGG ACCTGCCGGG GACTCAGGGC CTGCTGGAAG TTCAGGACCT GCTGGGGATC
 AGGGCCTGCC AGGGATTTAG G

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
dbSTS	GenBank
G44358	NT_009775.11

dbSNP Blast Analysis

UniGene Cluster ID
436437

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss22886662	HapMap-CEU	European	120	IG			1.000			1.000

	HapMap-HCB	Asian	90	IG		0.311	0.689	0.251	0.156	0.844

	HapMap-JPT	Asian	88	IG	0.068	0.318	0.614	0.584	0.227	0.773

	HapMap-YRI	Sub-Saharan African	118	IG			1.000			1.000

ss23975064	AFD_EUR_PANEL	European	48	IG			1.000			1.000

	AFD_AFR_PANEL	African American	46	IG			1.000			1.000

	AFD_CHN_PANEL	Asian	48	IG		0.458	0.542	0.150	0.229	0.771

ss3177110	MITOGPOP6	multiple	62	IG		0.129	0.871	0.752	0.065	0.935

ss5586234	P1		196	GF	0.010	0.061	0.929	0.050	0.041	0.960

	CAUC1		58	GF			1.000			1.000

	AFR1		48	GF			1.000			1.000

	HISP1		44	GF			1.000			1.000

	PAC1		46	GF	0.043	0.261	0.696	0.655	0.174	0.826

ss6396276	PO000009J		96	AF					0.270	0.730

ss69120732	HapMap-CEU	European	118	GF			1.000			1.000

	HapMap-HCB	Asian	90	GF		0.311	0.689		0.156	0.844

	HapMap-JPT	Asian	90	GF	0.067	0.333	0.600		0.233	0.767

	HapMap-YRI	Sub-Saharan African	118	GF			1.000			1.000

ss80753382	KHP1		174	AF					0.167	0.833

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict	Additional Freq. Data
	0.130+/-0.219	857	618	280	0	ALFRED: The Allele Frequency Database

Validation Summary:

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

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Revised: May 25, 2006 1:38 PM .