Reference SNP(refSNP) Cluster Report: rs2274329

Reference SNP(refSNP) Cluster Report: rs2274329

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/130
Map to Genome Build:	36.3

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

HGVS Names
NM_001215.2:c.209G>C
NP_001206.2:p.Gly70Ala
NT_021937.18:g.3546818G>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss76896670 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2274329 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
ss3210074	YUSUKE\|IMS-JST070158	fwd/B	C/G	acccctccttgaaggggctcaatatgacag	ctatgagacccaggcaggggagttccccat	09/05/01	10/10/03	100	Genomic	unknown
ss48420282	APPLERA_GI\|hCV16181593	fwd/	C/G	acccctccttgaaggggctcaatatgacag	ctatgagacccaggcaggggagttccccat	09/28/05	11/03/06	126	Genomic	unknown
ss68758123	PERLEGEN\|PGP04749249	fwd/	C/G	acccctccttgaaggggctcaatatgacag	ctatgagacccaggcaggggagttccccat	01/30/07	08/14/07	127	Genomic	unknown
ss76896670	SI_EXO\|NT_021937.18_3546818	fwd/	C/G	acccctccttgaaggggctcaatatgacag	ctatgagacccaggcaggggagttccccat	09/20/07	09/20/07	129	Genomic	unknown
ss107980468	1000GENOMES\|CEU.trio.12.15.2008_11333_chr1_8932038	fwd/	C/G	acccctccttgaaggggctcaatatgacag	ctatgagacccaggcaggggagttccccat	12/15/08	12/15/08	130	Genomic	unknown

Fasta sequence (Legend)

 CATTGATTTC AAAACACTGT CTTGCTCCCA GGGCCAGCAG TTGCCACAGG AAAGTTAGAG
 GTTAGCACCA AAGCCCCCCA AACACCAGAG TCCTTGGAGT TGACCTCGTT GTCTTTTTGG
 CCTCCTTCTG GGGGACCTGC TTCTGCTTTC TGGAAGGTGC CTCCGTGGGT CCCCGCCCAG
 CAGGCCCTGG CCTCTGGCCT CTGGCCTGGT GAGGTTCCTC CAGAGTGGGC GCAGCCAGGC
 AGCCCCTTGA ACTGTGTCTT TCCTGTCTTA GAAGGGGCAC TGGACGAAGC GCACTGGCCA
 CAGCACTACC CCGCCTGTGG GGGCCAGAGA CAGTCGCCTA TCAACCTACA GAGGACGAAG
 GTGCGGTACA ACCCCTCCTT GAAGGGGCTC AATATGACAG
 S
 CTATGAGACC CAGGCAGGGG AGTTCCCCAT GGTCAACAAT GGCCACACAG GTAAGAGGAA
 GGGGTGGTGA GGGGCTCCAG TCCATGGGCA GCCTGCAGGG GAAGGCAGGT TACACGTGTC
 CCTGCCAGGA ATGGCTTGCA CAGAGACACA GAGCACGGCC TCAGAGCTGG AGGCCTCGAA
 CATGAGGGTC GAACATGAGG GCTGACTGGC CCCGAAACCT AGTGGCTCTT CCAGAGAGGG
 CAGCATCCAT CTTTCGACTC AACTCCCTGC TGGTCCCTTC CTGCAGCGTT ATCCTCTTAC
 CCGAGCTCAC CCAACCCACC CAGCAGGTGA CAGGCAGGAC AGGCCGTGCT GCTGAAGCCA
 CCCTTCCCAC GGGGGCTTTC TGTCCATCAC CTTGGGTCAG

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_021937.18

dbSNP Blast Analysis

UniGene Cluster ID
100322

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss48420282	HapMap-CEU	European	112	IG	0.018	0.161	0.821	0.527	0.098	0.902

	AGI_ASP population	multiple	72	IG		0.111	0.889	0.752	0.056	0.944

ss68758123	HapMap-CEU	European	120	GF		1.000			0.500	0.500

	HapMap-HCB	Asian	90	GF		1.000			0.500	0.500

	HapMap-JPT	Asian	90	GF		1.000			0.500	0.500

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			0.500	0.500

Concordant Genotype	Total Sample	C/C	C/G	G/G
ss48420282	38		4	32
ss76896670	106		12

RefSNP Genotype Summary	Total Individual	C/C	C/G	G/G
rs2274329	212		16	32

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
150	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10846	CEPH1334.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
151	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10847	CEPH1334.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
157	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12144	CEPH1334.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
158	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12145	CEPH1334.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
159	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12146	CEPH1334.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
160	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12239	CEPH1334.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
169	ss76896670	C/C	CSHL-HAPMAP	HapMap-CEU	NA06994	CEPH1340.09	r27_ch1_CEU_perlegen:genotyping_1.0.0
170	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA07000	CEPH1340.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
172	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA07056	CEPH1340.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
175	ss76896670	C/C	CSHL-HAPMAP	HapMap-CEU	NA06991	CEPH1341.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
184	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA07034	CEPH1341.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
185	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA07055	CEPH1341.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
188	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10851	CEPH1344.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
199	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12056	CEPH1344.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
200	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12057	CEPH1344.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
203	ss76896670	C/C	CSHL-HAPMAP	HapMap-CEU	NA07348	CEPH1345.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
215	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10857	CEPH1346.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
225	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12043	CEPH1346.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
226	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12044	CEPH1346.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
229	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10859	CEPH1347.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
238	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11881	CEPH1347.14	r27_ch1_CEU_perlegen:genotyping_1.0.0
239	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11882	CEPH1347.15	r27_ch1_CEU_perlegen:genotyping_1.0.0
242	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10854	CEPH1349.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
252	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11839	CEPH1349.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
253	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11840	CEPH1349.14	r27_ch1_CEU_perlegen:genotyping_1.0.0
254	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10856	CEPH1350.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
255	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10855	CEPH1350.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
262	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11829	CEPH1350.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
263	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11830	CEPH1350.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
264	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11831	CEPH1350.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
265	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11832	CEPH1350.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
344	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12716	CEPH1358.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
348	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10860	CEPH1362.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
349	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10861	CEPH1362.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
361	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11993	CEPH1362.14	r27_ch1_CEU_perlegen:genotyping_1.0.0
362	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11994	CEPH1362.15	r27_ch1_CEU_perlegen:genotyping_1.0.0
363	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA11995	CEPH1362.16	r27_ch1_CEU_perlegen:genotyping_1.0.0
374	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12234	CEPH1375.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
399	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10830	CEPH1408.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
400	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10831	CEPH1408.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
408	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12154	CEPH1408.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
409	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12236	CEPH1408.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
410	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12155	CEPH1408.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
411	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12156	CEPH1408.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
429	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10835	CEPH1416.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
439	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12249	CEPH1416.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
456	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA10838	CEPH1420.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
464	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12003	CEPH1420.09	r27_ch1_CEU_perlegen:genotyping_1.0.0
465	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12004	CEPH1420.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
466	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12005	CEPH1420.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
467	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12006	CEPH1420.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
524	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12740	CEPH1444.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
535	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12750	CEPH1444.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
536	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12751	CEPH1444.14	r27_ch1_CEU_perlegen:genotyping_1.0.0
537	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12752	CEPH1447.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
538	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12753	CEPH1447.02	r27_ch1_CEU_perlegen:genotyping_1.0.0
545	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12760	CEPH1447.09	r27_ch1_CEU_perlegen:genotyping_1.0.0
546	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12761	CEPH1447.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
547	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12762	CEPH1447.11	r27_ch1_CEU_perlegen:genotyping_1.0.0
548	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12763	CEPH1447.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
576	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12812	CEPH1454.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
577	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12813	CEPH1454.13	r27_ch1_CEU_perlegen:genotyping_1.0.0
579	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12815	CEPH1454.15	r27_ch1_CEU_perlegen:genotyping_1.0.0
610	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12864	CEPH1459.01	r27_ch1_CEU_perlegen:genotyping_1.0.0
618	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12872	CEPH1459.09	r27_ch1_CEU_perlegen:genotyping_1.0.0
619	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12873	CEPH1459.10	r27_ch1_CEU_perlegen:genotyping_1.0.0
621	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12875	CEPH1459.12	r27_ch1_CEU_perlegen:genotyping_1.0.0
623	ss76896670	G/G	CSHL-HAPMAP	HapMap-CEU	NA12878	CEPH1463.02	r27_ch1_CEU_perlegen:genotyping_1.0.0

Genotype data submitted for	212	samples from	212	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 .