Reference SNP(refSNP) Cluster Report: rs2227914

Reference SNP(refSNP) Cluster Report: rs2227914

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	98/130
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_007068.2:c.598A>G
NP_008999.2:p.Met200Val
NT_011520.11:g.18325121T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss16342361 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2227914 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
ss3172529	WIAF-CSNP\|WIAF-10399	fwd/T	A/G	tatgcacgtgcatatactagtgaacatcag	tggagctacttgattatgtagcagcaaagt	06/19/01	04/07/04	98	cDNA	unknown
ss6903786	SNP500CANCER\|DMC1-01	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	02/14/03	04/07/04	116	Genomic	unknown
ss16342361	EGP_SNPS\|DMC1-033551	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	01/13/04	04/07/04	120	Genomic	unknown
ss23648944	PERLEGEN\|afd4344261	rev/B	C/T	actttgctgctacataatcaagtagctcca	ctgatgttcacctgatgggaaatgcagtga	08/10/04	09/13/04	123	Genomic	unknown
ss65827513	KRIBB_YJKIM\|KHS3302	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	10/17/06	11/15/06	127	Genomic	unknown
ss66861451	EGP_SNPS\|DMC1_033551	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	11/09/06	12/16/06	127	Genomic	unknown
ss69272445	PERLEGEN\|PGP04344261	rev/B	C/T	actttgctgctacataatcaagtagctcca	ctgatgttcacctgatgggaaatgcagtga	01/30/07	08/14/07	127	Genomic	unknown
ss74809704	AFFY\|SNP_M-182720	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	08/09/07	08/09/07	128	Genomic	unknown
ss74879119	ILLUMINA\|ILMN_Human_1M_rs2227914	fwd/T	A/G	tcactgcatttcccatcaggtgaacatcag	tggagctacttgattatgtagcagcaaagt	08/28/07	08/29/07	129	Genomic	unknown
ss76474555	AFFY\|AFFY_6_1M_SNP_A-8335585	rev/B	C/T	taatcaagtagctcca	ctgatgttcacctgat	08/28/07	08/30/07	129	Genomic	unknown

Fasta sequence (Legend)

 CACCATGTTG GCAAGGCTGG TCTTGAACTC CTGACCCCAA GTGATCCACC TGCCTCGGCC
 TCCCAAAGTG TTGGGATTAT AGGCATGAGC CACCATGCCC TGCTGCAATA ATATTTAATA
 AAGTCATCAA TAATTAAGAA AATCCTTCAA GGAATTTATT TTGCCTGGCT CCCAAGAATA
 TGAATGATCT TAGCCTCTGC TTCTTTCAAC TTTTATAACA TTTTCTCACT GCATTTCCCA
 TCAGGTGAAC ATCAG
 R
 TGGAGCTACT TGATTATGTA GCAGCAAAGT TCCATGAAGA AGCTGGCATC TTCAAGCTAT
 TGGTACAAGC TTTTAAATAT TGCTTTCACA GAGCTATTTA GCATAATATT TTTCTTCTAT
 TGATCTCTAT TCAAATAACG TCTTCCTTCA ATTTCCAAAT GCATGTTTAT TTTTACATTA
 ATCCTGTGTA GATTATCGAT TCAATAATGG CACTTTTTCG AGTGGATTTC AGTGGCCGTG
 GGGAGTTGGC CGAAC

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_011520.8

dbSNP Blast Analysis

UniGene Cluster ID
339396

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss16342361	PDR90	Global	180	IG	0.944	0.056		1.000	0.972	0.028

	HapMap-CEU	European	120	IG	1.000				1.000

	HapMap-HCB	Asian	90	IG	1.000				1.000

	HapMap-JPT	Asian	88	IG	1.000				1.000

	HapMap-YRI	Sub-Saharan African	120	IG	0.600	0.333	0.067	0.655	0.767	0.233

ss23648944	AFD_EUR_PANEL	European	48	IG	1.000				1.000

	AFD_AFR_PANEL	African American	46	IG	0.739	0.261		0.479	0.870	0.130

	AFD_CHN_PANEL	Asian	48	IG	1.000				1.000

ss3172529	WIAF-CSNP-MITOGPOP5	multiple	48	IG	0.833	0.125	0.042	0.150	0.896	0.104

ss65827513	KHP1		158	AF			1.000			1.000

ss66861451	HSP_GENO_PANEL		120	IG	0.967	0.033		1.000	0.983	0.017

	CEU_GENO_PANEL	European	120	IG	1.000				1.000

	AAM_GENO_PANEL	African American	124	IG	0.839	0.161		0.527	0.919	0.081

	CHB_GENO_PANEL	Asian	90	IG	1.000				1.000

	YRI_GENO_PANEL	Sub-Saharan African	120	IG	0.600	0.333	0.067	0.655	0.767	0.233

	JPT_GENO_PANEL	Asian	90	IG	1.000				1.000

ss6903786	P1		198	GF	0.949	0.051		1.000	0.975	0.025

	CAUC1		62	GF	1.000				1.000

	AFR1		48	GF	0.833	0.167		0.752	0.917	0.083

	HISP1		42	GF	0.952	0.048		1.000	0.976	0.024

	PAC1		46	GF	1.000				1.000

ss69272445	HapMap-CEU	European	120	GF	1.000				1.000

	HapMap-HCB	Asian	90	GF	1.000				1.000

	HapMap-JPT	Asian	90	GF	1.000				1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.600	0.333	0.067		0.767	0.233

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.204+/-0.246	1158	974	279	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	YES	YES

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Revised: May 25, 2006 1:38 PM .