Reference SNP(refSNP) Cluster Report: rs7818605

Reference SNP(refSNP) Cluster Report: rs7818605

refSNP ID: rs7818605
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_006283.1:c.278-12866G>A
NT_007995.14:g.8984563G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss11920280 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7818605 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
ss11920280	WI_SSAHASNP\|chr8.NT_008251.13_711486	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	07/04/03	10/21/04	116	Genomic	unknown
ss14897902	PERLEGEN\|PS01903252	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	11/13/03	04/07/04	119	Genomic	unknown
ss22666359	SSAHASNP\|WGSA-200403-chr8.chr8.NT_008251.14_726439	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	03/21/04	03/21/04	121	Genomic	unknown
ss23459217	PERLEGEN\|afd1903252	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	08/10/04	09/13/04	123	Genomic	unknown
ss44904842	ABI\|hCV30395577	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	07/19/05	07/19/05	126	Genomic	unknown
ss65972894	AFFY\|SNP_A-1746815	rev/B	C/T	gaaacaggcctagaatccttcttag	aagcacaaaaatatcttcttaccca	10/26/06	10/26/06	127	Genomic	unknown
ss93871443	BCMHGSC_JDW\|JWB-2454012	fwd/T	A/G	ggttttgggtaagaagatatttttgtgctt	ctaagaaggattctaggcctgtttcttact	02/26/08	03/05/08	129	Genomic	unknown

Fasta sequence (Legend)

 TAGCTCTAGA ATTAATTGAG GGGGGGCTCT CTAGCATGAT TGAGTCATGG TCTGCCtgtg
 tgtgtgtgta tgtgtgtgtg tgtgagagag agagaaagag agagagggag agagagagaA
 AATAAATTCC ATCCCTCTGT CTTGGGAGGA GAAAGAGGGA TGGGGCTGGC TAGGTTGAGG
 ATGGGGTCCT GTGATGAAAT GGAAGCAGAG GAGAAGTGGG TAGAAGGGGA CTTGGTTTTG
 GGTAAGAAGA TATTTTTGTG CTT
 R
 CTAAGAAGGA TTCTAGGCCT GTTTCTTACT GCTCAGTAGA CTGTGTTCAT GTATCAGTGG
 CTAACCTGTA CTTGTGGAAT ATGCGGTTCT CTTCTATACc agttctctga ttctccagcc
 ccagctgggt tttcaaaaac tcagttctat tctgatactt actttctcga gttagcctca
 gactccacag gcttaagggc tcaatctcac aaaactgctc tcgcttcaga tgctaattgc
 aagtcccaga tcccagtcat ctgcacttgt gtctgacttg gctacaaatt ttggagtttt
 cataccctcg cccaggtttg ataattcatt agaataactc cgagaattca ggaaaatgct
 aaagtttact ggtttgttat aaaggataca actcagaaat agccacatgg aagagctggg
 tgtaaggagt gtgcagagct tccatgccct ctctgggaat gccattctcc atgcacatct
 aagcgtttgc cagcccacaa gctctctgaa gctcatactt ccgagagttt ttataacttg
 gtcttcagcc cccttccctt ccccagagat ggaggtggag agggctgaaa attcccatct
 tctaatcatg catttggtct ttctggtcgt cagcccccat cctgaagcca cttggATATG
 AGATATTGTT TATGTGTTTT GAGGTCAGAA AGAGAGCCAG CGTGTGTATG TGAGAATACA
 GGAGACTTGT CCAAATTCTG GCAGCT

GeneView

GeneView via analysis of contig annotation: TACC1 transforming, acidic coiled-coil containing protein 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_007995->NM_006283

function

HuRef

NW_001839128->NM_006283

function

Celera

NW_923907->NM_006283

function

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


reference	NT_007995->NM_006283->NP_006274	8984563	forward	intron

HuRef	NW_001839128->NM_006283->NP_006274	111379	reverse	intron

Celera	NW_923907->NM_006283->NP_006274	26185347	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7818605 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_001839128.2	111379	37199627	minus	C	alt_assembly_8	HuRef	HuRef	view	263
8	NW_923907.1	26185347	37617509	plus	G	alt_assembly_1	Celera	Celera	view	263
8	NT_007995.14	8984563	38783331	plus	G	ref_assembly	reference	reference	view	263

NCBI Resource Links

Submitter-Referenced
GenBank
NT_008251

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
ss11920280	HapMap-CEU	European	120	IG	0.100	0.600	0.300	0.100	0.400	0.600

	HapMap-HCB	Asian	90	IG	0.067	0.422	0.511	0.752	0.278	0.722

	HapMap-JPT	Asian	88	IG	0.023	0.273	0.705	1.000	0.159	0.841

	HapMap-YRI	Sub-Saharan African	120	IG	0.083	0.483	0.433	0.439	0.325	0.675

ss14897902	AfAm	African American	12	IG		0.333	0.667	0.655	0.167	0.833

	Caucasian	European	22	IG		0.455	0.545	0.343	0.227	0.773

	Asian	Asian	10	IG		0.600	0.400	0.343	0.300	0.700

	CEPH	European	12	IG	0.167	0.333	0.500	0.584	0.333	0.667

	PDpanel	Global	46	IG	0.087	0.261	0.652	0.273	0.217	0.783

ss23459217	AFD_EUR_PANEL	European	48	IG	0.042	0.542	0.417	0.251	0.312	0.688

	AFD_AFR_PANEL	African American	46	IG	0.043	0.565	0.391	0.200	0.326	0.674

	AFD_CHN_PANEL	Asian	48	IG	0.125	0.250	0.625	0.150	0.250	0.750

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.412+/-0.191	377	304	15	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 .