Reference SNP(refSNP) Cluster Report: rs2073817

Reference SNP(refSNP) Cluster Report: rs2073817

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:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_001134707.1:c.1841G>A
NM_007101.3:c.1841G>A
NP_001128179.1:p.Arg614His
NP_009032.2:p.Arg614His

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48407693 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2073817 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
ss2988266	YUSUKE\|IMS-JST000399	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	05/24/01	10/10/03	96	Genomic	unknown
ss3182760	HGBASE\|SNP000568344	fwd/T	A/G	gtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgact	07/09/01	10/10/03	98	Genomic	unknown
ss3962643	SC_JCM\|AL365494.2_8368	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	09/25/01	10/10/03	100	Genomic	unknown
ss48407693	APPLERA_GI\|hCV15810748	rev/B	C/T	ctgacagtcaggtcactctcggtgccccca	ggtggttgagcatgcacgtgtacacggtgg	09/28/05	11/03/06	126	Genomic	unknown
ss65726184	ILLUMINA\|Human1-rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	10/10/06	10/10/06	127	Genomic	unknown
ss66643188	ILLUMINA\|HumanHap300v1.1_rs2073817	fwd/B	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	11/09/06	11/09/06	127	Genomic	unknown
ss67222545	ILLUMINA\|HumanHap550v1.1_rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	11/14/06	11/14/06	127	Genomic	unknown
ss67617005	ILLUMINA\|HumanHap650Yv1.0_rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	11/14/06	11/14/06	127	Genomic	unknown
ss68384058	CSHL-HAPMAP\|sanger:assay:4245049:1	rev/B	C/T	ctgacagtcaggtcactctcggtgccccca	ggtggttgagcatgcacgtgtacacggtgg	01/11/07	01/16/07	127	NA	unknown
ss69305274	PERLEGEN\|PGP00847644	rev/B	C/T	ctgacagtcaggtcactctcggtgccccca	ggtggttgagcatgcacgtgtacacggtgg	01/30/07	08/14/07	127	Genomic	unknown
ss70700836	ILLUMINA\|HumanHap550v3.0__rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	04/20/07	03/30/08	130	Genomic	unknown
ss71266899	ILLUMINA\|HumanHap650Yv3.0_rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	04/23/07	04/23/07	127	Genomic	unknown
ss75516826	ILLUMINA\|ILMN_Human_1M_rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	08/28/07	08/29/07	129	Genomic	unknown
ss79112685	ILLUMINA\|HumanHap300v2.0_rs2073817	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	04/18/07	11/18/07	130	Genomic	unknown
ss83966039	KRIBB_YJKIM\|KHS586634	fwd/T	A/G	ccaccgtgtacacgtgcatgctcaaccacc	tgggggcaccgagagtgacctgactgtcag	12/04/07	12/06/07	130	Genomic	unknown
ss94184491	BCMHGSC_JDW\|JWB-2657540	rev/B	C/T	ctgacagtcaggtcactctcggtgccccca	ggtggttgagcatgcacgtgtacacggtgg	02/26/08	03/06/08	129	Genomic	unknown
ss109119699	1000GENOMES\|CEU.trio.12.15.2008_2266446_chr9_135549281	rev/B	C/T	ctgacagtcaggtcactctcggtgccccca	ggtggttgagcatgcacgtgtacacggtgg	12/15/08	12/16/08	130	Genomic	unknown

Fasta sequence (Legend)

 ATTTCAAGAA GAAAGAAGCT TCCTTCCCGC AAGGGTGACG GTGATGGGAT GTCCTGCCCA
 TGGCCAGTCC TCTCTGGGTC ATTAAGCTGA AATGGCATCC CTGGGCTGAG GAGCTCTCCA
 GGTCACCTCC CAGTAGGGCA TCCTGTCTGG GGGTTATCCA GCCTCCGTGA CAAGGAGCTG
 CCCCTGTGAG CGGCCCTGGG GAAACTGAGG CAGCACAGAC CCGGCTGGGG CCTCAGCACA
 GACCCGGCTT CCTTCTCCCT CTCGCAGGCT CCACCGTGTA CACGTGCATG CTCAACCACC
 R
 TGGGGGCACC GAGAGTGACC TGACTGTCAG CCGCCTGGCA CCCAGCCACC AGGCCTCCCC
 GCTGGCCCCC GCCTTTGAAG GTATGGGATG CCTCTGTGCA CACGGCGCTG TGACTGCGGC
 CTGCTCTGTG GACTGGTGGT TGTGGACAGG GCAGGATGGA CGGGATGGGC TGCTGACGGC
 AGCTCTGTCA TTAGCTGTTG TGCCCGCTGT GGTCAGAGCT GGGAGATTAG AGGTCTCGTT
 TCAGGCTAAA TGGGGGCTTT GTTCAGGCGG CATTGCTGGA GCTCCCAGTA CTCAGTGATT

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_000009.9 AC000388

dbSNP Blast Analysis

UniGene Cluster ID
198003

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48407693	HapMap-CEU	European	120	IG	0.200	0.383	0.417	0.150	0.392	0.608

	HapMap-HCB	Asian	90	IG	0.156	0.556	0.289	0.403	0.433	0.567

	HapMap-JPT	Asian	88	IG	0.068	0.500	0.432	0.317	0.318	0.682

	HapMap-YRI	Sub-Saharan African	118	IG	0.085	0.492	0.424	0.343	0.331	0.669

	AGI_ASP population	multiple	74	IG	0.135	0.378	0.486	0.439	0.324	0.676

ss69305274	HapMap-CEU	European	120	GF	0.133	0.533	0.333		0.400	0.600

	HapMap-HCB	Asian	90	GF	0.111	0.600	0.289		0.411	0.589

	HapMap-JPT	Asian	90	GF	0.067	0.556	0.378		0.344	0.656

	HapMap-YRI	Sub-Saharan African	120	GF	0.083	0.567	0.350		0.367	0.633

Concordant Genotype	Total Sample	A/A	A/G	G/G
ss48407693	1223

RefSNP Genotype Summary	Total Individual	A/A	A/G	G/G
rs2073817	1246

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
170	ss48407693	T/T	CSHL-HAPMAP	HapMap-CEU	NA07000	CEPH1340.10	r27_ch9_CEU_illumina:human_1m_beadchip
185	ss48407693	C/C	CSHL-HAPMAP	HapMap-CEU	NA07055	CEPH1341.12	r27_ch9_CEU_illumina:human_1m_beadchip
199	ss48407693	C/C	CSHL-HAPMAP	HapMap-CEU	NA12056	CEPH1344.12	r27_ch9_CEU_illumina:human_1m_beadchip
225	ss48407693	C/C	CSHL-HAPMAP	HapMap-CEU	NA12043	CEPH1346.11	r27_ch9_CEU_illumina:human_1m_beadchip
226	ss48407693	C/C	CSHL-HAPMAP	HapMap-CEU	NA12044	CEPH1346.12	r27_ch9_CEU_illumina:human_1m_beadchip
344	ss48407693	T/T	CSHL-HAPMAP	HapMap-CEU	NA12716	CEPH1358.11	r27_ch9_CEU_illumina:human_1m_beadchip
362	ss48407693	T/T	CSHL-HAPMAP	HapMap-CEU	NA11994	CEPH1362.15	r27_ch9_CEU_illumina:human_1m_beadchip
411	ss48407693	T/T	CSHL-HAPMAP	HapMap-CEU	NA12156	CEPH1408.13	r27_ch9_CEU_illumina:human_1m_beadchip
464	ss48407693	C/C	CSHL-HAPMAP	HapMap-CEU	NA12003	CEPH1420.09	r27_ch9_CEU_illumina:human_1m_beadchip
5132	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA18500	YOR004.01	r27_ch9_YRI_illumina:human_1m_beadchip
5140	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA19099	YOR105.02	r27_ch9_YRI_illumina:human_1m_beadchip
5166	ss48407693	T/T	CSHL-HAPMAP	HapMap-HCB	NA18552	CH18552	r27_ch9_CHB_illumina:human_1m_beadchip
5180	ss48407693	C/C	CSHL-HAPMAP	HapMap-HCB	NA18623	CH18623	r27_ch9_CHB_illumina:human_1m_beadchip
5184	ss48407693	C/T	CSHL-HAPMAP	HapMap-HCB	NA18579	CH18579	r27_ch9_CHB_illumina:human_1m_beadchip
5189	ss48407693	T/T	CSHL-HAPMAP	HapMap-HCB	NA18592	CH18592	r27_ch9_CHB_illumina:human_1m_beadchip
5223	ss48407693	C/C	CSHL-HAPMAP	HapMap-JPT	NA18971	JA18971	r27_ch9_JPT_illumina:human_1m_beadchip
5235	ss48407693	C/C	CSHL-HAPMAP	HapMap-JPT	NA19007	JA19007	r27_ch9_JPT_illumina:human_1m_beadchip
5241	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA18506	YOR009.01	r27_ch9_YRI_illumina:human_1m_beadchip
5243	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA18507	YOR009.03	r27_ch9_YRI_illumina:human_1m_beadchip
5245	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA18858	YOR012.02	r27_ch9_YRI_illumina:human_1m_beadchip
5256	ss48407693	C/T	CSHL-HAPMAP	HapMap-YRI	NA18854	YOR018.01	r27_ch9_YRI_illumina:human_1m_beadchip
5294	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA19160	YOR056.03	r27_ch9_YRI_illumina:human_1m_beadchip
5295	ss48407693	C/C	CSHL-HAPMAP	HapMap-YRI	NA19221	YOR058.01	r27_ch9_YRI_illumina:human_1m_beadchip

Genotype data submitted for	1246	samples from	1246	individuals	Individual with multiple genotypes submission:	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 .