Reference SNP(refSNP) Cluster Report: rs2271087

Reference SNP(refSNP) Cluster Report: rs2271087

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/130
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_003241.3:c.300G>C
NP_003232.2:p.Glu100Asp
NT_022517.17:g.44869291G>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss76900163 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2271087 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
ss3205773	YUSUKE\|IMS-JST065857	rev/B	C/G	agcccacccgccagcccagtgggtgctcac	tctttgccagactcattttgaagggttgcc	09/05/01	10/10/03	100	Genomic	unknown
ss23150978	PERLEGEN\|afd4526135	fwd/T	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	08/10/04	10/26/06	123	Genomic	unknown
ss48406439	APPLERA_GI\|hCV15959440	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	09/28/05	11/03/06	126	Genomic	unknown
ss68860333	PERLEGEN\|PGP04526135	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	01/30/07	08/14/07	127	Genomic	unknown
ss74816638	AFFY\|SNP_M-313091	fwd/T	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	08/09/07	08/09/07	128	Genomic	unknown
ss74859026	ILLUMINA\|ILMN_Human_1M_rs2271087	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	08/28/07	08/29/07	129	Genomic	unknown
ss76900163	SI_EXO\|NT_022517.17_44869291	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	09/20/07	09/20/07	129	Genomic	unknown
ss82870725	HGSV\|Cor18555_SNV_20070510.chr3_44904291	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	11/27/07	12/03/07	130	Genomic	unknown
ss92074741	BCMHGSC_JDW\|JWB-1587137	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	02/26/08	03/02/08	129	Genomic	unknown
ss111637620	1000GENOMES\|CEU.trio.12.15.2008_690823_chr3_44904291	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	12/15/08	12/17/08	130	Genomic	unknown
ss117069262	ILLUMINA-UK\|NA18507_000066798_NCBI36.1_chr3_44904291	fwd/	C/G	ggcaacccttcaaaatgagtctggcaaaga	gtgagcacccactgggctggcgggtgggct	01/18/09	01/18/09	130	Genomic	99 %

Fasta sequence (Legend)

 GAATGAGCAT GTGACAGAGG CAGGAGCTCT AGGGAGACCT GGATCTGATG GGTAAAAAGG
 GAGGACGTGG AGAGGAGGCA GGAAGCTCAT CTAAATTGAA CAGAAAACTA AAACTGGACA
 TGTGGGGCAG AAGGAGGCCC CTGCAGAATT AGAGGGGCTG GAGCCAGGGG ACAAATGAGC
 CTGGAAAGGA GGGGTGGGGG CTCCATGAGT GGGCAGTAGG TGGGCCCGAA CCAGAGGAGA
 TTGTCTTGGG GGTGGCCCAT GGCTGGGCCA ATGTTTTCCT TTGGGTGTCT CCAGGGCCGA
 ATCCTAGCAT CGCCAAACAC ACCCTGGTGG TGCTCGACCC GAGGACGCCC TCAGACCACT
 ACAACTGGCA GGCAACCCTT CAAAATGAGT CTGGCAAAGA
 S
 GTGAGCACCC ACTGGGCTGG CGGGTGGGCT GGCTGGCTTC TGGCGGAATG CTCCTAATGT
 GAGCAGCCCC TATCCCCTTC CTCACCTGTC AGCTGGTAAC ATGGTTTAAA GCCATCCACA
 GCACAGCATG ATAGAGGGGC CATGGCTCCA AATGTCTGTT TCCCCACTCA GCCTCCTCCA
 AGCACACAGT ATCGCTGTGG CCAAACCTCC TACATGTCAC CCTTCCCCTT TCCATTTCAA
 AGGGAACAAT GTTCACTGGA GGACATGAGC GGAGAGAAGT ACATAAAAAT AACCCATGGT
 TCCACCAACT AAGTTACCCA TCCTTCCTTC CAGGCTTTTT CTGTGTCATG GTCAAATACA
 AAATGGGGGT CCATCTCATG CTTCACTCAC TTGACAAGAC

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_022517.17

dbSNP Blast Analysis

UniGene Cluster ID
438265

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G	N
ss23150978	AFD_EUR_PANEL	European	44	IG	0.045	0.455	0.500	0.527	0.273	0.727

	AFD_AFR_PANEL	African American	42	IG	0.048	0.476	0.476	0.479	0.286	0.714

	AFD_CHN_PANEL	Asian	42	IG	0.524	0.476		0.200	0.762	0.238

	CHMJ	Asian	74	IG					0.757	0.162	0.081

ss48406439	HapMap-HCB	Asian	88	IG	0.727	0.250	0.023		0.852	0.148

	HapMap-JPT	Asian	84	IG	0.571	0.429			0.786	0.214

	HapMap-YRI	Sub-Saharan African	116	IG	0.017	0.345	0.638		0.190	0.810

	AGI_ASP population	multiple	76	IG	0.079	0.237	0.684	0.150	0.197	0.803

ss68860333	HapMap-CEU	European	120	GF	0.133	0.433	0.433		0.350	0.650

	HapMap-HCB	Asian	90	GF	0.733	0.244	0.022		0.856	0.144

	HapMap-JPT	Asian	90	GF	0.578	0.422			0.789	0.211

	HapMap-YRI	Sub-Saharan African	120	GF	0.017	0.333	0.650		0.183	0.817

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.500+/-0.011	541	441	189	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 .