Reference SNP(refSNP) Cluster Report: rs699512

Reference SNP(refSNP) Cluster Report: rs699512

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/130
Map to Genome Build:	36.3

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

HGVS Names
NM_000712.3:c.7G>A
NP_000703.2:p.Ala3Thr
NT_007819.16:g.43299722G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss76890288 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs699512 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
ss130080	TSC-CSHL\|TSC0103798	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	09/06/00	10/10/03	86	Genomic	95 %
ss1215856	KWOK\|OVLP-000804-177080	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	09/02/00	10/10/03	86	Genomic	97 %
ss1645184	KWOK\|OVLP-000925-506320	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	10/04/00	10/10/03	87	Genomic	97 %
ss2430838	SC_JCM\|AC005189.1_150003	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/03/00	10/10/03	92	Genomic	unknown
ss2986167	YUSUKE\|IMS-JST008169	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	05/24/01	10/25/06	96	Genomic	unknown
ss3187267	HGBASE\|SNP000572851	fwd/T	A/G	accgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagacc	07/09/01	10/10/03	98	Genomic	unknown
ss14547349	WUGSC_SSAHASNP\|chr7.NT_007819.14_43102880	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/05/03	11/22/03	120	Genomic	unknown
ss23143461	EGP_SNPS\|BLVRA-014451	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	05/13/04	05/16/04	126	Genomic	unknown
ss44788821	ABI\|hCV2584771	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	07/19/05	11/03/06	126	Genomic	unknown
ss65729139	ILLUMINA\|Human1-rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	10/10/06	10/10/06	127	Genomic	unknown
ss66592832	ILLUMINA\|HumanHap300v1.1_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/09/06	11/09/06	127	Genomic	unknown
ss66863410	EGP_SNPS\|BLVRA_014451	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/09/06	08/14/07	127	Genomic	unknown
ss67526847	ILLUMINA\|HumanHap550v1.1_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/14/06	11/14/06	127	Genomic	unknown
ss67894951	ILLUMINA\|HumanHap650Yv1.0_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/14/06	11/14/06	127	Genomic	unknown
ss69014576	PERLEGEN\|PGP00500212	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	01/30/07	08/14/07	127	Genomic	unknown
ss70901019	ILLUMINA\|HumanHap550v3.0__rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	04/20/07	03/31/08	130	Genomic	unknown
ss71496336	ILLUMINA\|HumanHap650Yv3.0_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	04/23/07	04/23/07	127	Genomic	unknown
ss74810849	AFFY\|SNP_M-184456	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	08/09/07	08/09/07	128	Genomic	unknown
ss74945769	ILLUMINA\|ILMN_Human_1M_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	08/28/07	08/29/07	129	Genomic	unknown
ss76890288	SI_EXO\|NT_007819.16_43299722	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	09/20/07	09/20/07	129	Genomic	unknown
ss79241638	ILLUMINA\|HumanHap300v2.0_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	04/18/07	11/18/07	130	Genomic	unknown
ss81264211	HGSV\|Cor18507_SNV_20070510.chr7_43584004	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/26/07	11/28/07	130	Genomic	unknown
ss81788458	HGSV\|Cor18555_SNV_20070510.chr7_43584004	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/27/07	12/01/07	130	Genomic	unknown
ss82383610	HGSV\|Cor19240_SNV_20070510.chr7_43584004	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	11/30/07	12/02/07	130	Genomic	unknown
ss83521393	KRIBB_YJKIM\|KHS481150	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	12/04/07	12/05/07	130	Genomic	unknown
ss93668922	BCMHGSC_JDW\|JWB-2302656	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	02/26/08	03/04/08	129	Genomic	unknown
ss98264566	HUMANGENOME_JCVI\|1103652559504	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	03/31/08	03/31/08	130	Genomic	unknown
ss105524448	BGI\|BGI_rs699512	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	09/10/08	06/17/09	130	Genomic	unknown
ss111897416	1000GENOMES\|CEU.trio.12.15.2008_1750322_chr7_43777289	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	12/15/08	12/17/08	130	Genomic	unknown
ss113670228	1000GENOMES\|NA19240_2008_12_16_1575552_chr7_43777289	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	12/18/08	12/18/08	130	Genomic	unknown
ss116054047	ILLUMINA-UK\|NA18507_000065209_NCBI36.1_chr7_43777289	fwd/T	A/G	cagtgaccgaaggaagagaccaagatgaat	cagaggtgagttctttacaaagaccagttt	01/16/09	01/16/09	130	Genomic	99 %

Fasta sequence (Legend)

 TTGTCCCCAT TTAAAAAGCC AGATAAAAAA CTGTCCTCTT CAAGCACCAG TTTTGGGAAG
 TGCATCCTTC CCATGGAGGC ATCCCGATTG CAGCTGCTCT TCCAATGTAG GAGACGGATC
 TGGGCTTGGA AATGCCCTTC TCTAAGGAAG CATTGCTGGT GTGACATCCC AGGGAAGTCA
 GCTACCACCA GCCCCAAAGT AGACACTGGC CTGGGTATCC TAGCTGGAAG GCACAGGTGG
 TGAAGGCATT TGGGAAACAT GAGAATGATG GGACAGGAAG CAGTGGGGGA GCATGGGGTG
 GCAAAGGGGA ATGTTTGCCT GGAGTTTGGG CAGGTGCCAC CAGGGACCTG AACCTCTGCT
 TTTGTCTTTA CAGTGACCGA AGGAAGAGAC CAAGATGAAT
 R
 CAGAGGTGAG TTCTTTACAA AGACCAGTTT AAGGGATGCT TTTCTTATTG TGTCCCTCAT
 TTCTCCTTTG CAGAGTCTCC ATTCCCTTTC AGAAACATCA GCACAAACTT GAGAACATTT
 CCCCTCTAGC CTACTGAAGT GCACGTGGTT CTGGGTGATG CAGGAAGAAC TAGGCCCCTC
 TGAGTTCTTA TCTGTGTCTG TCTGGCTTCA TTCGAACTTA CCCACTGCAG CTAATCCTGA
 AACAACACTC CCTAGCTCTG GCTAGTAGTG GGGCATGGAG GTTGCTGGGC CCAGATCCCT
 GCTTTGTGTT ATTCTGGAAA CACTTTCTCT GCATTGTCTC CTTGGTGCTC TCACTTCCAG
 TTCTTTGATG CATGGAGATG TCTAGCTCCT TATCCTTTTG

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_007819.16 ABBA01058194 AC073104 AC073104.4 AC073104.5

dbSNP Blast Analysis

UniGene Cluster ID
488143

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss23143461	PDR90	Global	174	IG	0.724	0.241	0.034	0.479	0.845	0.155

ss2986167	JBIC-allele		1502	AF					0.696	0.303

ss44788821	HapMap-CEU	European	120	IG	0.517	0.433	0.050	0.439	0.733	0.267

	HapMap-HCB	Asian	90	IG	0.556	0.378	0.067	1.000	0.744	0.256

	HapMap-JPT	Asian	88	IG	0.500	0.409	0.091	1.000	0.705	0.295

	HapMap-YRI	Sub-Saharan African	120	IG	0.967	0.033		1.000	0.983	0.017

	AoD_African_American		90	AF					0.920	0.080

	AoD_Caucasian		92	AF					0.770	0.230

	AoD_Chinese		90	AF					0.730	0.270

	AoD_Japanese		90	AF					0.600	0.400

ss66863410	HSP_GENO_PANEL		120	IG	0.667	0.283	0.050	0.527	0.808	0.192

	CEU_GENO_PANEL	European	120	IG	0.517	0.433	0.050	0.439	0.733	0.267

	AAM_GENO_PANEL	African American	124	IG	0.823	0.177		0.479	0.911	0.089

	CHB_GENO_PANEL	Asian	90	IG	0.556	0.378	0.067	1.000	0.744	0.256

	YRI_GENO_PANEL	Sub-Saharan African	120	IG	0.967	0.033		1.000	0.983	0.017

	JPT_GENO_PANEL	Asian	90	IG	0.489	0.422	0.089	1.000	0.700	0.300

ss69014576	HapMap-CEU	European	120	GF	0.517	0.433	0.050		0.733	0.267

	HapMap-HCB	Asian	90	GF	0.556	0.378	0.067		0.744	0.256

	HapMap-JPT	Asian	90	GF	0.511	0.400	0.089		0.711	0.289

	HapMap-YRI	Sub-Saharan African	120	GF	0.967	0.033			0.983	0.017