Reference SNP(refSNP) Cluster Report: rs7263802

Reference SNP(refSNP) Cluster Report: rs7263802

refSNP ID: rs7263802
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/129
Map to Genome Build:	36.3

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

HGVS Names
NT_011333.5:g.372877A>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10951336 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7263802 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
ss10951336	BCM_SSAHASNP\|chr20.NT_011333.5_372877		fwd/B	A/T	gcattaccgacagccgaggaaattgggtta	taaagccggatactgcggcggggccgcggg	06/30/03	10/25/06	116	Genomic			unknown

Fasta sequence (Legend)

 TGAAGAAATA AAAGTGGAAA TTAGCAGAAA CCAGTATTAG GCATATGTCT TTATGAATAA
 GACTTAACCA TACACTTGAT TTTGCAAGTA CAGAAGGCCC TGTGGAATGT ATTAATCAGA
 GTTAAACGCT GTAGACAGGC GCGTTGCAGG GCGGCGGCCC TCTCCCCTTG GCATTACCGA
 CAGCCGAGGA AATTGGGTTA
 W
 TAAAGCCGGA TACTGCGGCG GGGCCGCGGG GCGCAAACCG GCGCGGACAG ATGGGTCCCC
 GGGGGCACCC TGCCCGGCTC CCTGGATCCC GGATGGTGGC AGAGCTGGGA GCTGCGCAGG
 ACGGGCACTG CGCAGCGCAT CTCCGTTCAC ACCCGGCGGG GCACGGGGCC CGCAGCAGCT
 TACTCACCCG TAGCCCGGCC

GeneView

GeneView via analysis of contig annotation: BHLHB4 basic helix-loop-helix domain containing, class B, 4

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_011333->NM_080606

function

HuRef

NW_001838671->NM_080606

function

Celera

NW_927339->NM_080606

function

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


reference	NT_011333->NM_080606->NP_542173	372877	reverse	3' near gene

HuRef	NW_001838671->NM_080606->NP_542173	374153	reverse	3' near gene

Celera	NW_927339->NM_080606->NP_542173	31816004	reverse	3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7263802 maps exactly once on NCBI human chromosome 20

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
20	NW_927339.1	31816004	58312895	plus	A	alt_assembly_1	Celera	Celera	view	200
20	NW_001838671.1	374153	58353499	plus	A	alt_assembly_8	HuRef	HuRef	view	200
20	NT_011333.5	372877	61106691	plus	A	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011333

dbSNP Blast Analysis
GenBank HTGS Finished:
AL121673.41 NC_000020.9

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/T	HWP	A	T
ss10951336	HapMap-CEU	European	110	IG	1.000			1.000

	HapMap-HCB	Asian	82	IG	1.000			1.000

	HapMap-JPT	Asian	86	IG	0.977	0.023	1.000	0.988	0.012

	HapMap-YRI	Sub-Saharan African	112	IG	0.929	0.071	1.000	0.964	0.036

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.025+/-0.110	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 .