Reference SNP(refSNP) Cluster Report: rs2070956

Reference SNP(refSNP) Cluster Report: rs2070956

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	96/130
Map to Genome Build:	36.3

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

HGVS Names
NM_000147.3:c.29C>G
NP_000138.2:p.Pro10Arg
NT_004610.18:g.7019090G>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48410970 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2070956 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
ss2984398	YUSUKE\|IMS-JST006078	fwd/T	C/G	cgatgcgggctccggggatgaggtcgcggc	ggcgggtcccgcgctgttgctgctgctgct	05/24/01	10/10/03	96	Genomic	unknown
ss3186056	HGBASE\|SNP000571640	fwd/T	C/G	cgggctccggggatgaggtcgcggc	ggcgggtcccgcgctgttgctgctg	07/09/01	10/10/03	98	Genomic	unknown
ss4228414	SC_JCM\|AL590728.9_112126	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	10/15/01	10/10/03	101	Genomic	unknown
ss4369442	SC_JCM\|AL590728.10_112218	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	02/19/02	10/10/03	103	Genomic	unknown
ss12993120	SC_SNP\|NT_004391.15_535095	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	10/22/03	10/31/03	119	Genomic	unknown
ss13457771	WI_SSAHASNP\|chr1.NT_079488.1_1280	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccacatcg	10/31/03	11/10/03	123	Genomic	unknown
ss20554915	SSAHASNP\|WGSA-200403-chr1.chr1.NT_079488.1_1280	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccacatcg	03/18/04	03/18/04	123	Genomic	unknown
ss23856305	PERLEGEN\|afd3978273	rev/B	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	08/10/04	09/13/04	123	Genomic	unknown
ss28477322	KYUGEN\|QH06420	fwd/	C/G	cgatgygggctccggggatgaggtcgcggc	ggcgggtcccgcgctgttgctgctgctgct	07/29/04	11/02/06	126	Genomic	unknown
ss48410970	APPLERA_GI\|hCV12007470	rev/	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	09/28/05	11/03/06	126	Genomic	unknown
ss74875293	ILLUMINA\|ILMN_Human_1M_rs2070956	fwd/	C/G	cgatgcgggctccggggatgaggtcgcggc	ggcgggtcccgcgctgttgctgctgctgct	08/28/07	08/29/07	129	Genomic	unknown
ss77339846	HGSV\|Cor12156_SNV_20070510.chr1_23940054	rev/	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	10/09/07	10/12/07	129	Genomic	unknown
ss82365655	HGSV\|Cor18555_SNV_20070510.chr1_23940054	rev/	C/G	agcagcagcagcaacagcgcgggacccgcc	gccgcgacctcatccccggagcccgcatcg	11/27/07	12/02/07	130	Genomic	unknown

Fasta sequence (Legend)

 GCCTTGCTCA CCTCCACGAT TTAACCTCGC AGTTAAGTCC CTTTTCAAGG TTTTTATTCG
 TCCTTCAGCG AAGCGCTGTC AACGCCTCCC TGCGTCTTTC CCTTCTTGAG CACCAGAGGG
 CGCTCCTCCG ACCCGAGGAG GAAGCGACTC GGGCCAACCT GTCCAGGTTG TCCCACCCCT
 TTTTCCTTCC GGGCCAATCG TTAGTCAGAG TGGGCGGAGC CGCCCGCGGG CACCTGCGCG
 TTAAGAGTGG GCCGCGTCGC TGAGGGGTAG CGATGCGGGC TCCGGGGATG AGGTCGCGGC
 S
 GGCGGGTCCC GCGCTGTTGC TGCTGCTGCT CTTCCTCGGA GCGGCCGAGT CGGTGCGTCG
 GGCCCAGCCT CCGCGCCGCT ACACCCCAGA CTGGCCGAGC CTGGATTCTC GGCCGCTGCC
 GGCCTGGTTC GACGAAGCCA AGTTCGGGGT GTTCATCCAC TGGGGCGTGT TCTCGGTGCC
 CGCCTGGGGC AGCGAGTGGT TCTGGTGGCA CTGGCAGGGC GAGGGGCGGC CGCAGTACCA
 GCGCTTCATG CGCGACAACT ACCCGCCCGG CTTCAGCTAC GCCGACTTCG GACCGCAGTT

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_079488 AL590609

dbSNP Blast Analysis

UniGene Cluster ID
370858

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss23856305	AFD_EUR_PANEL	European	48	IG	0.792	0.167	0.042	0.251	0.875	0.125

	AFD_AFR_PANEL	African American	44	IG	0.727	0.273		0.479	0.864	0.136

	AFD_CHN_PANEL	Asian	48	IG	0.583	0.417		0.200	0.792	0.208

ss28477322	CP		156	AF					0.860	0.140

	JPK3		200	AF					0.790	0.210

ss48410970	HapMap-HCB	Asian	90	IG			1.000			1.000

	HapMap-JPT	Asian	88	IG			1.000			1.000

	AGI_ASP population	multiple	74	IG	0.757	0.243		0.403	0.878	0.122

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.498+/-0.033	285	264	0	0

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 .