Reference SNP(refSNP) Cluster Report: rs12387

Reference SNP(refSNP) Cluster Report: rs12387

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	52/130
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_003739.4:c.312G>A
NT_077567.3:g.5079685G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss2827707 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12387 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
ss14659	CGAP-GAI\|59162	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	08/23/99	04/07/04	52	cDNA		99 %
ss1524970	LEE\|402265	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	09/13/00	10/10/03	102	cDNA		unknown
ss2827707	TSC-CSHL\|TSC1005565	rev/B	C/T	atagaggtcaacatagtccaattgagcttt	ttcagtgagttttccaaggctggtcggacc	01/03/01	04/07/04	102	Genomic		unknown
ss3243082	YUSUKE\|IMS-JST053167	rev/B	C/T	atagaggtcaacatagtccaattgagcttt	ttcagtgagttttccaaggctggtcggacc	09/05/01	10/10/03	102	Genomic		unknown
ss3969814	SC_JCM\|AL391427.9_103760	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	09/25/01	10/10/03	102	Genomic		unknown
ss4415693	LEE\|e402265	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	04/26/02	10/10/03	106	cDNA		unknown
ss6903637	SNP500CANCER\|AKR1C3-02	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaarctcaattggactatgttgacctctat	02/14/03	04/07/04	113	Genomic		unknown
ss10618515	BCM_SSAHASNP\|chr10.NT_077567.2_2635662	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	06/29/03	10/10/03	116	Genomic		unknown
ss15595044	SC_SNP\|NT_077567.3_5079685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	11/17/03	11/22/03	120	Genomic		unknown
ss16252226	CGAP-GAI\|1503798	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	11/18/03	11/22/03	120	cDNA		unknown
ss16490854	CSHL-HAPMAP\|CSHL-HuAA-200402.chr10.NT_077567.3_5079685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	02/17/04	03/04/04	120	Genomic		unknown
ss20657595	SSAHASNP\|WGSA-200403-chr10.chr10.NT_077567.3_5079685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	03/18/04	03/18/04	121	Genomic		unknown
ss24075892	PERLEGEN\|afd2201840	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	08/10/04	09/13/04	123	Genomic		unknown
ss28503786	MGC_GENOME_DIFF\|BC001479x37551026-G5079685A	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	08/25/04	08/25/04	126	cDNA		unknown
ss46525898	CEPH\|G9-SN-E3S1	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	07/21/05	07/21/05	126	Genomic	A	100 %
ss65737155	ILLUMINA\|Human1-rs12387	fwd/B	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	10/10/06	10/10/06	127	Genomic		unknown
ss65983699	AFFY\|SNP_A-1726697	fwd/T	A/G	gaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacc	10/26/06	10/26/06	127	Genomic		unknown
ss66361131	AFFY\|SNP_A-1993140	fwd/T	A/G	tggaaaactcactgaa	aaagctcaattggact	10/29/06	08/14/07	127	Genomic		unknown
ss76079945	AFFY\|AFFY_6_1M_SNP_A-1993140	fwd/T	A/G	tggaaaactcactgaa	aaagctcaattggact	08/28/07	08/29/07	129	Genomic		unknown
ss78746592	HGSV\|Cor12878_SNV_20070510.chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	10/17/07	10/20/07	129	Genomic		unknown
ss80993037	HGSV\|Cor18507_SNV_20070510.chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	11/26/07	11/27/07	130	Genomic		unknown
ss81404493	KRIBB_YJKIM\|KHS30678	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	11/30/07	11/30/07	130	Genomic		unknown
ss86127569	HGSV\|Cor18517_SNV_20070510.chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	12/06/07	12/11/07	130	Genomic		unknown
ss88076330	BCMHGSC_JDW\|JWB-0227558	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	02/26/08	02/27/08	129	Genomic		unknown
ss97531591	HUMANGENOME_JCVI\|1103649847825	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	03/29/08	03/29/08	130	Genomic		unknown
ss109186342	1000GENOMES\|CEU.trio.12.15.2008_2283493_chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	12/15/08	12/16/08	130	Genomic		unknown
ss115290213	1000GENOMES\|NA19240_2008_12_16_2063765_chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	12/18/08	12/19/08	130	Genomic		unknown
ss118996722	ILLUMINA-UK\|NA18507_000008646_NCBI36.1_chr10_5129685	fwd/T	A/G	ggtccgaccagccttggaaaactcactgaa	aaagctcaattggactatgttgacctctat	01/21/09	01/22/09	130	Genomic		99 %

Fasta sequence (Legend)

 AAGCAACATA AATAGCTATT CTTAAGCATT GGGTTGAATG GATAGAAGAA TTAGACTGTT
 AAAATGAGTT GTAAACTCTA CTGAAGATAA TTCAGGTAAC ATCATAGTTA TTACTTAATA
 CTAATCTTTA CATTTTAAGA ATTTACTCCT ATCATTCAGT AGATGTACAA ACTATACATC
 CAACGTATAA TAAAGTTTAT AAGGATAGGT CAGAGCCAAA GGAATCATGA GAAGGAAGAG
 AATATGTTTG CCAGTGGTCA TAAATTTTGA AGCAGTAGGA AAATATCTAA ATACTAGATG
 GCACAAAGTA ATAAGATTTG CTCAAGCATT CATTCAAAAT CACCTCCATT CTTTAACCTC
 TGCAGCTTTG GTCCACTTTT CATCGACCAG AGTTGGTCCG ACCAGCCTTG GAAAACTCAC
 TGAA
 R
 AAAGCTCAAT TGGACTATGT TGACCTCTAT CTTATTCATT CTCCAATGTC TCTAAAGGTA
 TGCAGTTTGT ATGAGCATAA AATTGCGCTT CTGCTGTCAT TATAAACATT GTTTATCTGG
 ATAGTTGAAC AGAGCTTTTT ATTAGGAGGA TGTAGGGATT ATCACACAGA AGAAGAACCG
 TAAGTGGAAC ACCTAATTTC CTTTCTTTCG AGTAAATTTT GAA

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
S68288 AB032154 ABBA01035203 BC001479 BG547635 Hs.78183 NM_003739

dbSNP Blast Analysis

UniGene Cluster ID
78183

3D structure mapping
NP_003730

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss14659	POOLED_CEPH		188	AF					0.893	0.107

ss24075892	AFD_EUR_PANEL	European	48	IG	0.750	0.250		0.527	0.875	0.125

	AFD_AFR_PANEL	African American	46	IG	0.783	0.174	0.043	0.273	0.870	0.130

	AFD_CHN_PANEL	Asian	48	IG	0.583	0.417		0.200	0.792	0.208

ss2827707	AfAm	African American	12	IG	0.833	0.167		1.000	0.917	0.083

	Caucasian	European	24	IG	0.750	0.250		0.655	0.875	0.125

	Asian	Asian	12	IG	0.667	0.333		0.655	0.833	0.167

	CEPH	European	10	IG	1.000				1.000

	PDpanel	Global	46	IG	0.783	0.217		0.584	0.891	0.109

	CEPH		184	AF					0.890	0.110

	HapMap-CEU	European	120	IG	0.733	0.200	0.067	0.050	0.833	0.167

	HapMap-HCB	Asian	90	IG	0.667	0.311	0.022	0.752	0.822	0.178

	HapMap-JPT	Asian	88	IG	0.886	0.114		0.752	0.943	0.057

	HapMap-YRI	Sub-Saharan African	120	IG	0.833	0.167		0.527	0.917	0.083

	COHORT_CONSORTIUM_B		76	AF					0.816	0.184

	COHORT_CONSORTIUM_C		76	AF					0.868	0.132

	COHORT_CONSORTIUM_H		76	AF					0.944	0.056

	COHORT_CONSORTIUM_J		76	AF					0.868	0.132

	COHORT_CONSORTIUM_L		76	AF					0.908	0.092

ss3243082	JBIC-allele		1494	AF					0.894	0.106

ss66361131	HapMap-CEU	European	118	GF	0.746	0.186	0.068		0.839	0.161

	HapMap-HCB	Asian	90	GF	0.667	0.311	0.022		0.822	0.178

	HapMap-JPT	Asian	90	GF	0.867	0.133			0.933	0.067

	HapMap-YRI	Sub-Saharan African	120	GF	0.833	0.167			0.917	0.083

ss6903637	P1		202	GF	0.802	0.198		0.273	0.901	0.099

	CAUC1		60	GF	0.800	0.200		0.584	0.900	0.100

	AFR1		48	GF	0.792	0.208		0.584	0.896	0.104

	HISP1		46	GF	0.739	0.261		0.479	0.869	0.131

	PAC1		48	GF	0.875	0.125		0.752	0.938	0.062

ss76079945	ICMHP		4	IG	0.500	0.500			0.750	0.250