Reference SNP(refSNP) Cluster Report: rs4732062

Reference SNP(refSNP) Cluster Report: rs4732062

refSNP ID: rs4732062
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	111/129
Map to Genome Build:	36.3

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

HGVS Names
NM_004342.5:c.-41-4489G>A
NM_033138.2:c.-41-4489G>A
NM_033157.2:c.-41-4489G>A
NT_007933.14:g.59594835G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss14541682 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4732062 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
ss6522626	WI_SSAHASNP\|NT_007933.10_59589297	fwd/T	A/G	gggcaggagttggggaggggggaatatatg	aaactctgtactctctattcgctttttttc	02/12/03	10/10/03	111	Genomic	unknown
ss14541682	WUGSC_SSAHASNP\|chr7.NT_007933.13_59586251	fwd/T	A/G	gggcaggagttggggaggggggaatatatg	aaactctgtactctctattcgctttttttc	11/05/03	10/25/06	120	Genomic	unknown
ss74831667	AFFY\|SNP_M-588612	fwd/T	A/G	gggcaggagttggggaggggggaatatatg	aaactctgtactctctattcgctttttttc	08/09/07	08/09/07	128	Genomic	unknown
ss81812316	HGSV\|Cor18956_SNV_20070510.chr7_134005210	fwd/T	A/G	gggcaggagttggggaggggggaatatatg	aaactctgtactctctattcgctttttttc	11/30/07	12/01/07	130	Genomic	unknown
ss84369973	HGSV\|Cor18517_SNV_20070510.chr7_134005210	fwd/T	A/G	gggcaggagttggggaggggggaatatatg	aaactctgtactctctattcgctttttttc	12/06/07	12/07/07	130	Genomic	unknown

Fasta sequence (Legend)

 cttaatgtaa actatgaact ttagttaatc ataatgcatg aatactggtt tgtcaattgg
 aacaaatgta ccacactact gcaagatgtt CCTAagtttc ctagggctgc cataacaaag
 taccacacac tagttggtct ataataacag taatttcttg tcccactgtt acggagagtt
 gaagtttgaa atggaggtgt cagcatggcc aggctccctc tgaaggcact ggggaagggt
 ttgtcccatt tctctttctc agctttctgg tggccttagg tcttccttgt ctccattttc
 tcatggcatc tcaccatgtc ttcacattat ctcccctctg tgtttgtctg tctctgtgcc
 aaatttcccc ttttcataag gacaccatca tattggataa gggaccaccc taatcacctc
 atcttgacta catctgcaaa gactctatct ccaaatGCag gagaaaatgt gggcaggagt
 tggggagggg ggaatatatg
 R
 aaactctgta ctctctattc gctttttttc tgctctaaga aataagtcta ttcattAAAA
 atgttaaagg cttaaaaaac agcctgccac atagtacata ttcaataaat gttagttCCT
 TTTGGATGCT GCATTAACTT ATTCAGTGCC CCTGACACAA CAGATTTTAT TCTTCTTGCA
 TTCCAAGATC AATACTGGCA CTGCCCAAAA AGTAGATAAG ACTTAGCTTC TTCCACATGG
 CCTTGTCCCT AAGTGTTGAG TGCTGGGTTA GCCACCTGCT CACAAACATC TCCTGCCTTG
 ACTGCATTTA CAC

GeneView

GeneView via analysis of contig annotation: CALD1 caldesmon 1

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_007933->NM_004342

function

reference

NT_007933->NM_033138

function

reference

NT_007933->NM_033157

function

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


reference	NT_007933->NM_004342->NP_004333	59594835	forward	intron

reference	NT_007933->NM_033138->NP_149129	59594835	forward	intron

reference	NT_007933->NM_033157->NP_149347	59594835	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4732062 maps exactly once on NCBI human chromosome 7

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
7	NW_001839072.1	3195436	128850049	plus	A	alt_assembly_8	HuRef	HuRef	view	500
7	NW_923640.1	32044140	129285389	plus	G	alt_assembly_1	Celera	Celera	view	500
7	NT_079596.2	33927855	133892287	plus	G	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	500
7	NT_007933.14	59594835	134198495	plus	G	ref_assembly	reference	reference	view	500

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007933

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss14541682	HapMap-CEU	European	120	IG	0.483	0.450	0.067	0.527	0.708	0.292

	HapMap-HCB	Asian	90	IG	0.978	0.022		1.000	0.989	0.011

	HapMap-JPT	Asian	90	IG	0.844	0.156		0.584	0.922	0.078

	HapMap-YRI	Sub-Saharan African	120	IG	0.500	0.500		0.010	0.750	0.250

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.287+/-0.247	270	210	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .