Reference SNP(refSNP) Cluster Report: rs458098

Reference SNP(refSNP) Cluster Report: rs458098

refSNP ID: rs458098
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	80/129
Map to Genome Build:	36.3

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

HGVS Names
NM_013255.3:c.1173+1700A>C
NT_007933.14:g.56171336A>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss617573 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs458098 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
ss617573	SC_JCM\|AC018642.4_150174		fwd/B	G/T	ttaaaaatggcaaatagcttttaagcatgt	tgtatcgtatagctttctcatatttttatc	07/12/00	04/07/04	80	Genomic			unknown

Fasta sequence (Legend)

 gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtTTAAATCT TTTTGCTTGA TTACCATTAT
 TCCTGGAAAA CCACACAAAG CAACATCAAG GAAAGCTTGA GAACTAAACC GCCACTATGT
 TCTTAAGAAA TCCAGATGTC tttaaatttt attttttaaa tatgttaaaa ttaaaaatGG
 CAAATAGCTT TTAAGCATGT
 K
 TGTATCGTAT AGCTTTCTCA TATTTTTATC AAATTTGAAC ATTGTGTTAA ATCCTAAATT
 GTCATGAACA CCACAAGCTA TTTTTGGAGT GTCATAAACA CTACAAGTGT AAGTTCTAAC
 TTATAGCTTT ATTTGTATGA AATAGAATAG CAAATGCAGG ATTATACAGA TTACTTGCTC
 ACTATTACAG GGATAGTTGT

GeneView

GeneView via analysis of contig annotation: MKLN1 muskelin 1, intracellular mediator containing kelch motifs

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_013255

function

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


reference	NT_007933->NM_013255->NP_037387	56171336	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs458098 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_001839071.2	214310	125440204	plus	T	alt_assembly_8	HuRef	HuRef	view	200
7	NW_923640.1	28634181	125875430	minus	A	alt_assembly_1	Celera	Celera	view	200
7	NT_079596.2	30499689	130464121	minus	A	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	200
7	NT_007933.14	56171336	130774996	minus	A	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
AC018642 AC009783 AC023774

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	T/T	HWP	T
ss617573	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	1.000		1.000

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