Reference SNP(refSNP) Cluster Report: rs7845601

Reference SNP(refSNP) Cluster Report: rs7845601

refSNP ID: rs7845601
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/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_002095.4:c.166+6939T>C
NT_007995.14:g.824785A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss11970526 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7845601 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
ss11970526	WI_SSAHASNP\|chr8.NT_007995.13_824785		fwd/T	A/G	cactattttgctatcacccatgagcaaaca	aagcatgctcttaaccaccacactacccct	07/04/03	10/25/06	116	Genomic			unknown

Fasta sequence (Legend)

 TACCTCTCTT ATTTATACTC TCAAAGGCTA AGATAACCAA GGCAGAAAGA CTGCCCCTCC
 CCCCATCCCC CCAAAAAAGG TCAAAAGATA GGGCCACTCA ACACCTGTTG AAATATGGCA
 GTTTTATTTC TTGGAATTCC AAGGGCTATA TAGATATTTT GTGACCCTAA CACTATTTTG
 CTATCACCCA TGAGCAAACA
 R
 AAGCATGCTC TTAACCACCA CACTACCCCT AAGTCAGAAA TGCCACTCCT GGAAATGTAT
 CCTAAGCACT TAGTTCAAAT GTACAAGCTC AAGGTACAAA GATTTTTTAC AATGGCATTA
 CTCAAAATAA CAAAAAATTG AAAATAACTA AGACTTTAAC TAAATGTGGC ACATCAACTT
 AATGAATTAT TAAAAAGCAA CTGAAGGCCA GGCACAGTGG CTCATGCCTG TCATCCCAGC
 ACTTTGGGAG GCCAAGGCGG ATGGATCACA AGGTCAGGAG CTCAAGACGA GCCTGGCCAA
 GATGGTGAAA CCCCGTCTAT ACTAAAAATA CAAAAGTTAG CCGGGCATGG TGGTGGGCAC
 CTATAATCCC AGCTACTCGG GAGGCTGAGG CAGGAGAACT GCTTGAACCC AGGAGGCAGA
 GGTTGCAGTG AGCCGAGATG ATGCCAATGC ACTCTAGCCT GGGTGACAGA GCAAGACTCC
 GTCTCAAAAA AAAAAAAAAA

GeneView

GeneView via analysis of contig annotation: GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa

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_007995->NM_002095

function

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


reference	NT_007995->NM_002095->NP_002086	824785	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7845601 maps exactly once on NCBI human chromosome 8

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
8	NW_923907.1	18030368	29462530	plus	A	alt_assembly_1	Celera	Celera	view	200
8	NT_007995.14	824785	30623553	plus	A	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007995

dbSNP Blast Analysis
GenBank HTGS Draft:
AF215848.3

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss11970526	HapMap-CEU	European	118	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	0.783	0.167	0.050	0.050	0.867	0.133

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.074+/-0.178	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .