Reference SNP(refSNP) Cluster Report: rs2230682

Reference SNP(refSNP) Cluster Report: rs2230682

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:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_006509.2:c.1347C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48420017 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230682 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
ss3177840	WICVAR\|WI-18776	fwd/B	C/T	ggccatcctggaccacttcctgcccaacca	ggctcaggcccgttcctcccgccgtcagcc	06/28/01	04/07/04	98	cDNA	unknown
ss48420017	APPLERA_GI\|hCV15853232	fwd/B	C/T	ggccatcctggaccacttcctgcccaacca	ggctcaggtgggtcccagctacacataagc	09/28/05	11/03/06	130	Genomic	unknown
ss50402682	RSG_UW\|RELB-034345	fwd/B	C/T	ggccatcctggaccacttcctgcccaacca	ggctcaggtgggtcccagctacacataagc	02/02/06	02/02/06	130	Genomic	unknown

Fasta sequence (Legend)

 TGTCCCTGGT ATCTCCTTAA CAGACAGCTA CGGCGTGGAC AAGAAGCGGA AACGGGGGAT
 GCCCGACGTC CTTGGGGAGC TGAACAGCTC TGGTGTGTGC CCTCTGCCCC TTTCCACCCC
 CATCCCCAGG TTCTGGGGAG GGGACAGCTG ACCCCACTGC CCTGTCCCAC CCCAGGCTGG
 GGAGGAAGGG CTGTCGGGGA ACAGGGGTCC TCATCTCTGC CTTCCCTCAG ACCCCCATGG
 CATCGAGAGC AAACGGCGGA AGAAAAAGCC GGCCATCCTG GACCACTTCC TGCCCAACCA
 Y
 GGCTCAGGTG GGTCCCAGCT ACACATAAGC CCCTGTCCCC TGGGTGGGCA GAGGGTAAGT
 GGCAGCCCTG CTTTTCTGGC CTCTTCACGC CCTCCAAGAG CAGCCACAAG GCGAGTCACT
 CAGCACTTAG CCAGCAACAT AGAGTAGAAA GAATGAGGGC TTTGGAGACA GAATGGAAGT
 TCTGATCTCT TCTGGGCCAT TTCCTTGCTA TGTGAACTTC ATTAAGTTGT TCTACCTCTC
 AGAGCCTCAG GGACTCCTTT GAAAAGGCCC AGTACATACT TAGCTCAGTG GTGTTTTAAA

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
NM_006509

dbSNP Blast Analysis

UniGene Cluster ID
307905

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	HWP	C	T
ss3177840	MITOGPOP6	multiple	62	IG	0.935	0.065	1.000	0.968	0.032

ss48420017	AGI_ASP population	multiple	78	IG	0.949	0.051	1.000	0.974	0.026

ss50402682	JAR_CEPH-PANEL	European	46	IG	0.957	0.043	1.000	0.978	0.022

	JAR_YORUB-PANEL	Sub-Saharan African	48	IG	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.042+/-0.138	86	86	0	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 .