Reference SNP(refSNP) Cluster Report: rs607070

Reference SNP(refSNP) Cluster Report: rs607070

refSNP ID: rs607070
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	83/129
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_006185.2:c.-103+2206G>A
NT_033927.7:g.2012047C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss38760140 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs607070 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
ss779158	SC_JCM\|AP002513.1_141663	fwd/T	A/G	accaaaaggtgttgtccagactcaaaatga	tactttctagaatgagatcattcccaaagt	07/27/00	10/10/03	83	Genomic	unknown
ss4246232	SC_JCM\|AP002490.4_167476	rev/B	C/T	actttgggaatgatctcattctagaaagta	tcattttgagtctggacaacaccttttggt	10/15/01	10/10/03	101	Genomic	unknown
ss38760140	ABI\|hCV17933	rev/B	C/T	actttgggaatgatctcattctagaaagta	tcattttgagtctggacaacaccttttggt	07/16/05	11/02/06	126	Genomic	unknown

Fasta sequence (Legend)

 GGGAAGAATG CCTTGAAATA AGACTTGAAT TCTAGAACTT TTAGGATGAG GGCAAAGCCC
 TGCTCAGGTG GCTGAACAGA GCTGATCAGG GGCTGTTTGG ACAGCTGTGT CTAATTGATA
 AAACTATGAT CAGAAGATAT TAGGTTTGTG CAAAAGTAAT TGCAGTTATT GCCATTGAAA
 GTAATGGCAA AAACCACAGT TACTTTTGCA TTAACCTAAT ATATGGTGTG GTCATTTAAT
 TTAGCCTCTT ACCCAGTGTA CACTAAACAT ACCAAAAGGT GTTGTCCAGA CTCAAAATGA
 R
 TACTTTCTAG AATGAGATCA TTCCCAAAGT CAATCCATCT CTAAGTTGAA CAATTCTAAT
 TGATAATTAT TATTTTGTAG CTGGGCATGG TGGCTTGCCC TGTCATCCCA ACTACTCTGG
 AGGCTGAGGC AGGAGGAGCA GGCGGGAGAA TGGCTTGAGC CCAGGAGTTC TTAGCTAGCC
 TGGGCAACAG AGTGAGACCC CAACACAATT AAAATATGTT TATTGTTTTG TATTGTTAGT
 GATTATTTCA TTTTACCCAT GTATGTCTAC TGTTTGCTTT TTCACTATTT TTCCTTGCAT

GeneView

GeneView via analysis of contig annotation: NUMA1 nuclear mitotic apparatus protein 1

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: LOC727727 hypothetical LOC727727

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_033927->NM_006185

function

HuRef

NW_001838028->XM_001713623

function

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


reference	NT_033927->NM_006185->NP_006176	2012047	reverse	intron

HuRef	NW_001838028->XM_001713623->XP_001713675	15892725	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs607070 maps exactly once on NCBI human chromosome 11

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
11	NW_001838028.2	15892725	68082912	plus	G	alt_assembly_8	HuRef	HuRef	view	300
11	NW_925106.1	17439341	69091265	minus	C	alt_assembly_1	Celera	Celera	view	300
11	NT_033927.7	2012047	71466946	minus	C	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
AP002513 AP002490 AP002513

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AP002490.4	AP002513.2

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss38760140	HapMap-CEU	European	120	IG			1.000			1.000

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

	HapMap-JPT	Asian	90	IG	0.022	0.467	0.511	0.150	0.256	0.744

	HapMap-YRI	Sub-Saharan African	120	IG			1.000			1.000

	AoD_African_American		90	AF					0.010	0.990

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.202+/-0.245	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 .