Reference SNP(refSNP) Cluster Report: rs1271251

Reference SNP(refSNP) Cluster Report: rs1271251

refSNP ID: rs1271251
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	87/129
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_138775.1:c.367+437A>C
NT_033899.7:g.10989471T>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1977202 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1271251 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
ss1977183	KWOK\|OVLP-000925-107243	fwd/B	G/T	aataaataaaaataaagttttaggaatctt	ggtagctacaggtgttctgctataaatatg	10/06/00	10/10/03	87	Genomic	89 %
ss1977202	KWOK\|OVLP-000925-114898	fwd/B	G/T	taaataaataaaaataaagtttaggatctt	ggtagctacaggtgttctgctataaatatg	10/06/00	10/10/03	92	Genomic	89 %
ss3517524	SC_JCM\|AP000823.2_4714	fwd/B	G/T	taaataaataaaaataaagtttaggatctt	ggtagctacaggtgttctgctataaatatg	09/24/01	10/10/03	100	Genomic	unknown

Fasta sequence (Legend)

 AAATAGGTGG CAAATGAATA TATGATTAGA TGTTTAAATC TAAGTTCATC TCAATACATC
 TCATTTTCAT GGGGCAGAAG TAATAATTCC TGTACAATTC TGTAAATCAA TATATAAAGC
 TATACTTATT TAATTAAATT ATTCAGTTCC TCAATCAGAC TATCCAGTGG CTATTGAACT
 GGGCAGCACA GACAGGAACA TTTCTACCAT CACAGGAAGT TCTACTGGAC AGCACCACCA
 TAAAGTTTTA GGAATCagcc gggcacggtg gctcacgcct gtaatcccag cactttggga
 ggccaaggca ggcggattac gaggtcagga gttcgaggcc agactggcca acacggtgaa
 accccatctc tactaaaaat acaaaaatta gccaggcatg gtggcacatg cctgtaatcc
 cagctactta ggaggctgag gcaggagaat tgcttgaacc cgggaggtgg aggttgcagt
 gagccgagat tgtgccattg cactccagcc tgggcaacaa gagcaaaact ctgtctcaaa
 aagcaaaaaa aaaaataaat aaataaaaaT AAAGTTTAGG ATCTT
 K
 GGTAGCTACA GGTGTTCTGC TATAAATATG AAGATGGGTA CATGATCATT GGGATCACGA
 TTCATTCTTA AGTGATTAAT TCAAAGCTCC GGGGTAGATA TGTGAAATAA ACTAGTAATG
 CAAACCCTCA TTATTAAATT TTGAAAAACA CAATTAGGCA GGAGGGTTCC AAAATAAGCC
 ATGTGCCTAA TAAATATATG

GeneView

GeneView via analysis of contig annotation: ALKBH8 alkB, alkylation repair homolog 8 (E. coli)

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_033899->NM_138775

function

HuRef

NW_001838042->NM_138775

function

Celera

NW_925173->NM_138775

function

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


reference	NT_033899->NM_138775->NP_620130	10989471	reverse	intron

HuRef	NW_001838042->NM_138775->NP_620130	13334556	forward	intron

Celera	NW_925173->NM_138775->NP_620130	17450761	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1271251 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_001838042.2	13334556	103352453	minus	A	alt_assembly_8	HuRef	HuRef	view	585
11	NW_925173.1	17450761	104581861	plus	T	alt_assembly_1	Celera	Celera	view	585
11	NT_033899.7	10989471	106932265	plus	T	ref_assembly	reference	reference	view	585

NCBI Resource Links

Submitter-Referenced
GenBank
AP000823.2 AP000889 AP000889.3 AP001823.2

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AP000889.6 AP001823.5	AP000823.2

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	G/T	T/T	HWP	G	T
ss1977202	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	0.017	0.983	1.000	0.008	0.992

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.005+/-0.049	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .