Reference SNP(refSNP) Cluster Report: rs3737512

Reference SNP(refSNP) Cluster Report: rs3737512

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	107/130
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_014177.2:c.235G>A
NP_054896.2:p.Gly79Ser
NT_025028.13:g.19607124G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48407031 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3737512 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
ss4923511	YUSUKE\|IMS-JST082751	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	07/24/02	10/10/03	107	Genomic	unknown
ss23524280	PERLEGEN\|afd4584871	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	08/10/04	09/13/04	123	Genomic	unknown
ss48407031	APPLERA_GI\|hCV25633352	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	09/28/05	11/03/06	126	Genomic	unknown
ss66616430	ILLUMINA\|HumanHap300v1.1_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	11/09/06	11/09/06	127	Genomic	unknown
ss67298046	ILLUMINA\|HumanHap550v1.1_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	11/14/06	11/14/06	127	Genomic	unknown
ss67702602	ILLUMINA\|HumanHap650Yv1.0_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	11/14/06	11/14/06	127	Genomic	unknown
ss69220232	PERLEGEN\|PGP04584871	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	01/30/07	03/31/08	127	Genomic	unknown
ss70776675	ILLUMINA\|HumanHap550v3.0__rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	04/20/07	03/30/08	130	Genomic	unknown
ss71352770	ILLUMINA\|HumanHap650Yv3.0_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	04/23/07	04/23/07	127	Genomic	unknown
ss74808449	AFFY\|SNP_M-180104	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	08/09/07	08/09/07	128	Genomic	unknown
ss75429135	ILLUMINA\|ILMN_Human_1M_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	08/28/07	08/29/07	129	Genomic	unknown
ss79163601	ILLUMINA\|HumanHap300v2.0_rs3737512	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	04/18/07	11/18/07	130	Genomic	unknown
ss84161154	KRIBB_YJKIM\|KHS647958	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	12/04/07	12/06/07	130	Genomic	unknown
ss114647820	1000GENOMES\|NA19240_2008_12_16_3198142_chr18_69967258	fwd/T	A/G	ggaccgagcccccgaaaagcaaaggaggat	gcagcaaacaagtgtctgtgcacaggagtc	12/18/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 AGTGAACCCT AAAGCTTTCC TAATTGTAGT TAGCATCGTC CCTAAGCGGA ACGATTTTCC
 GTGAACATGA TTTGTACTTT TCTACGAGCC GTACAGTATA CGGAGAAGCT GCACAGGTCC
 TCGGCAAAGC GATTGCTTTT GCCATACATC GTGCTTAACA AAGCGTGCTT GAAGACTGAG
 CCCAGTTTGA GATGTGGGCT TCAATATCAA AAGAAAACGC TGCGACCTAG ATGTATTCTT
 GGAGTCACCC AGAAAACCAT CTGGACGCAG GGACCGAGCC CCCGAAAAGC AAAGGAGGAT
 R
 GCAGCAAACA AGTGTCTGTG CACAGGAGTC AGAGAGGGGG AACCGCCGTC CCAACATCAC
 AAAAAGGTAA AAAGGAGTAC TTTAATGATT GGGCTTTCAA CAGACATGAC AAGAGCTGCC
 AATGCCCTTT TATACCAAGT TCACTGCTAA AGGTGAAAAA GCAATTCACA TGAATTTTTA
 AAAACCGTTT AAACATAATT TAGAACTAGA ACATATAGAT CTACAGTTTT CTTCACAGAT
 TGGAACTCAG ATGTGAAAGT TGATCTTGAA TTTGATATAA CTTTTTTTCA TTATGTTTGG

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
NC_000018.8

dbSNP Blast Analysis

UniGene Cluster ID
532835

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss23524280	AFD_EUR_PANEL	European	48	IG		0.125	0.875	0.752	0.062	0.938

	AFD_AFR_PANEL	African American	44	IG		0.455	0.545	0.200	0.227	0.773

	AFD_CHN_PANEL	Asian	48	IG		0.125	0.875	0.752	0.062	0.938

ss48407031	HapMap-CEU	European	120	IG		0.100	0.900	0.752	0.050	0.950

	HapMap-HCB	Asian	90	IG		0.222	0.778	0.403	0.111	0.889

	HapMap-JPT	Asian	88	IG	0.045	0.341	0.614	1.000	0.216	0.784

	HapMap-YRI	Sub-Saharan African	120	IG	0.050	0.317	0.633	1.000	0.208	0.792

	AGI_ASP population	multiple	72	IG	0.028	0.083	0.889	0.050	0.069	0.931

ss4923511	JBIC-allele		1502	AF					0.164	0.836

ss69220232	HapMap-CEU	European	120	GF		0.383	0.617		0.192	0.808

	HapMap-HCB	Asian	90	GF		0.467	0.533		0.233	0.767

	HapMap-JPT	Asian	90	GF		0.511	0.489		0.256	0.744

	HapMap-YRI	Sub-Saharan African	120	GF		0.517	0.483		0.258	0.742

Concordant Genotype	Total Sample	A/A	A/G	G/G
ss23524280	70		16	53
ss48407031	1173	31	283	841

RefSNP Genotype Summary	Total Individual	A/A	A/G	G/G
rs3737512	1299	31	299	884

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
150	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA10846	CEPH1334.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
157	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12144	CEPH1334.10	r27_ch18_CEU_illumina:human_1m_beadchip	851330
159	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12146	CEPH1334.12	r27_ch18_CEU_illumina:human_1m_beadchip	851330
161	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA07029	CEPH1340.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
174	ss48407031	N/N	CSHL-HAPMAP	HapMap-CEU	NA07048	CEPH1341.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
175	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA06991	CEPH1341.02	r27_ch18_CEU_illumina:human_1m_beadchip	851330
184	ss48407031	N/N	CSHL-HAPMAP	HapMap-CEU	NA07034	CEPH1341.11	r27_ch18_CEU_illumina:human_1m_beadchip	851330
187	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA06985	CEPH1341.14	r27_ch18_CEU_illumina:human_1m_beadchip	851330
238	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA11881	CEPH1347.14	r27_ch18_CEU_illumina:human_1m_beadchip	851330
252	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA11839	CEPH1349.13	r27_ch18_CEU_illumina:human_1m_beadchip	851330
361	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA11993	CEPH1362.14	r27_ch18_CEU_illumina:human_1m_beadchip	851330
366	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA10863	CEPH1375.02	r27_ch18_CEU_illumina:human_1m_beadchip	851330
374	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12234	CEPH1375.12	r27_ch18_CEU_illumina:human_1m_beadchip	851330
399	ss23524280	G/G	PERLEGEN	AFD_EUR_PANEL	NA10830		71_IND_CHR_18
399	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA10830	CEPH1408.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
410	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12155	CEPH1408.12	r27_ch18_CEU_illumina:human_1m_beadchip	851330
411	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12156	CEPH1408.13	r27_ch18_CEU_illumina:human_1m_beadchip	851330
429	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA10835	CEPH1416.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
457	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA10839	CEPH1420.02	r27_ch18_CEU_illumina:human_1m_beadchip	851330
524	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12740	CEPH1444.02	r27_ch18_CEU_illumina:human_1m_beadchip	851330
545	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12760	CEPH1447.09	r27_ch18_CEU_illumina:human_1m_beadchip	851330
547	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12762	CEPH1447.11	r27_ch18_CEU_illumina:human_1m_beadchip	851330
548	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12763	CEPH1447.12	r27_ch18_CEU_illumina:human_1m_beadchip	851330
565	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12801	CEPH1454.01	r27_ch18_CEU_illumina:human_1m_beadchip	851330
576	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12812	CEPH1454.12	r27_ch18_CEU_illumina:human_1m_beadchip	851330
618	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12872	CEPH1459.09	r27_ch18_CEU_illumina:human_1m_beadchip	851330
619	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12873	CEPH1459.10	r27_ch18_CEU_illumina:human_1m_beadchip	851330
623	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12878	CEPH1463.02	r27_ch18_CEU_illumina:human_1m_beadchip	851330
637	ss48407031	G/G	CSHL-HAPMAP	HapMap-CEU	NA12892	CEPH1463.16	r27_ch18_CEU_illumina:human_1m_beadchip	851330
5153	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18561	CH18561	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5154	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18562	CH18562	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5159	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18542	CH18542	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5160	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18545	CH18545	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5161	ss48407031	A/G	CSHL-HAPMAP	HapMap-HCB	NA18572	CH18572	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5163	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18609	CH18609	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5164	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18550	CH18550	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5166	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18552	CH18552	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5176	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18621	CH18621	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5179	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18573	CH18573	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5180	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18623	CH18623	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5187	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18633	CH18633	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5189	ss48407031	G/G	CSHL-HAPMAP	HapMap-HCB	NA18592	CH18592	r27_ch18_CHB_illumina:human_1m_beadchip	851330
5200	ss48407031	A/A	CSHL-HAPMAP	HapMap-JPT	NA18949	JA18949	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5201	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18948	JA18948	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5210	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18961	JA18961	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5211	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18972	JA18972	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5220	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18980	JA18980	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5227	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18991	JA18991	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5231	ss48407031	G/G	CSHL-HAPMAP	HapMap-JPT	NA18998	JA18998	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5232	ss48407031	A/A	CSHL-HAPMAP	HapMap-JPT	NA19000	JA19000	r27_ch18_JPT_illumina:human_1m_beadchip	851330
5240	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA18504	YOR005.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5247	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA18515	YOR013.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5250	ss48407031	N/N	CSHL-HAPMAP	HapMap-YRI	NA18521	YOR016.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5252	ss48407031	N/N	CSHL-HAPMAP	HapMap-YRI	NA18522	YOR016.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5254	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA18870	YOR017.02	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5258	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA18853	YOR018.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5261	ss48407031	N/N	CSHL-HAPMAP	HapMap-YRI	NA18856	YOR023.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5270	ss48407031	N/N	CSHL-HAPMAP	HapMap-YRI	NA19092	YOR040.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5271	ss48407031	A/A	CSHL-HAPMAP	HapMap-YRI	NA19103	YOR042.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5273	ss48407031	A/A	CSHL-HAPMAP	HapMap-YRI	NA19101	YOR042.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5275	ss48407031	A/G	CSHL-HAPMAP	HapMap-YRI	NA19137	YOR043.02	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5276	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19138	YOR043.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5278	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19201	YOR045.02	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5280	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5286	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19211	YOR050.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5293	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19159	YOR056.02	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5295	ss48407031	A/G	CSHL-HAPMAP	HapMap-YRI	NA19221	YOR058.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5297	ss48407031	A/A	CSHL-HAPMAP	HapMap-YRI	NA19223	YOR058.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5303	ss48407031	A/A	CSHL-HAPMAP	HapMap-YRI	NA19141	YOR071.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5304	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19154	YOR072.01	r27_ch18_YRI_illumina:human_1m_beadchip	851330
5309	ss48407031	G/G	CSHL-HAPMAP	HapMap-YRI	NA19144	YOR074.03	r27_ch18_YRI_illumina:human_1m_beadchip	851330

Genotype data submitted for	1314	samples from	1299	individuals	Individual with multiple genotypes submission:	15

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 .