Reference SNP(refSNP) Cluster Report: rs2230055

Reference SNP(refSNP) Cluster Report: rs2230055

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/C
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_002177.1:c.283C>A
NP_002168.1:p.Arg95Ser
NT_008413.17:g.21131287G>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10532940 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230055 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
ss3177147	WICVAR\|WI-16875	fwd/T	A/C	cagcagatcttcagcctcttccacacagag	gctcctctgctgcctggaacatgaccctcc	06/28/01	04/07/04	98	cDNA	unknown
ss4936502	YUSUKE\|IMS-JST102417	rev/B	G/T	ggagggtcatgttccaggcagcagaggagc	ctctgtgtggaagaggctgaagatctgctg	08/01/02	10/10/03	108	Genomic	unknown
ss10532940	BCM_SSAHASNP\|chr9.NT_008413.15_21131288	rev/B	G/T	ggagggtcatgttccaggcagcagaggagc	ctctgtgtggaagaggctgaagatctgctg	06/29/03	10/10/03	116	Genomic	unknown
ss68375216	CSHL-HAPMAP\|sanger:assay:4251222:1	rev/B	G/T	ggagggtcatgttccaggcagcagaggagc	ctctgtgtggaagaggctgaagatctgctg	01/11/07	01/11/07	127	NA	unknown

Fasta sequence (Legend)

 AGAACCATGG CCTACTTAGC AGGAACACCT TGGTGCTTCT GCACCAAATG AGGAGAATCT
 CCCCTTTCTT GTGTCTCAAG GACAGAAGAG ACTTCAGGTT CCCCCAGGAG ATGGTAAAAG
 GGAGCCAGTT GCAGAAGGCC CATGTCATGT CTGTCCTCCA TGAGATGCTG CAGCAGATCT
 TCAGCCTCTT CCACACAGAG
 M
 GCTCCTCTGC TGCCTGGAAC ATGACCCTCC TAGACCAACT CCACACTGGA CTTCATCAGC
 AACTGCAACA CCTGGAGACC TGCTTGCTGC AGGTAGTGGG AGAAGGAGAA TCTGCTGGGG
 CAATTAGCAG CCCTGCACTG ACCTTGAGGA GGTACTTCCA GGGAATCCGT GTCTACCTGA
 AAGAGAAGAA ATACAGCGAC

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_023966.1

dbSNP Blast Analysis

UniGene Cluster ID
73010

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	C/C	HWP	A	C
ss10532940	HapMap-CEU	European	120	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG		1.000			1.000

ss3177147	MITOGPOP6	multiple	28	IG	0.071	0.929	0.001	0.071	0.929

ss4936502	JBIC-allele		1498	AF				0.097	0.902

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.015+/-0.085	362	246	2	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 .