Reference SNP(refSNP) Cluster Report: rs2292955

Reference SNP(refSNP) Cluster Report: rs2292955

refSNP ID: rs2292955
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_014427.3:c.1092+140C>G
NM_153636.1:c.867+140C>G
NT_010542.15:g.1213921C>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss82181926 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2292955 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss3235818	YUSUKE\|IMS-JST045903		fwd/T	C/G	tcctctcccccatcctctctccccaacctc	cccttccccgtctctcagcccctccccaga	09/05/01	10/10/03	100	Genomic			unknown
ss82181926	HGSV\|Cor18555_SNV_20070510.chr16_88180805		rev/	C/G	tctggggaggggctgagagacggggaaggg	gaggttggggagagaggatgggggagagga	11/27/07	12/02/07	130	Genomic			unknown

Fasta sequence (Legend)

 GGGGGCGGCA TGGGGCGGGG CCATGGACTC ACGGTGAAGT GGATCTGGCA GCCGCCCATG
 ATATAGTCCA GGAAGGAGTA CACCCTGTGG AACTTCCGGC CGGCGGAGTC AGCGTCCACC
 CCCGCCAGGG ACACTGAGGC CAGTGCCAGC TGGGATCCAG GCCTGCCTCC CGCAGGCAGC
 CCAGTCCCTC TGGGGTGCCA CCCTCCTCTC CTCTCCCCCA TCCTCTCTCC CCAACCTC
 S
 CCCTTCCCCG TCTCTCAGCC CCTCCCCAGA CGTGCTGGGG CCCACCAGGC CTCTGGTTGA
 GGGTCCATCC AACAATCAGA GGGAGGCAGC GGAAGCCCCT CTTGTGGGTG GGGAGGCTTC
 GGGCACAGCC ACCTCTCACC TTGAGGTCAG CCAGGACGAC CACTCCTGAG TTCTTATAAC
 TGCGTCTCTT CTGCTTGTAT TTGGGGTTCA CACAGTCCCA CTGGGCC

GeneView

GeneView via analysis of contig annotation: CPNE7 copine VII

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_010542->NM_014427

function

reference

NT_010542->NM_153636

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_010542->NM_014427->NP_055242	1213921	forward	intron

reference	NT_010542->NM_153636->NP_705900	1213921	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2292955 maps exactly once on NCBI human chromosome 16

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
16	NW_001838336.2	518969	75347613	plus	G	alt_assembly_8	HuRef	HuRef	view	60
16	NT_010542.15	1213921	88180805	minus	C	ref_assembly	reference	reference	view	60
Un	NW_923599.1	1755	unplaced	plus	G	alt_assembly_1	Celera	Celera	view	60

NCBI Resource Links

Submitter-Referenced
GenBank
AC068559.1

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	C	G
ss3235818	JBIC-allele		1478	AF		0.352	0.647

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.456+/-0.141	0	0	0	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 .