Reference SNP(refSNP) Cluster Report: rs12286811

Reference SNP(refSNP) Cluster Report: rs12286811

refSNP ID: rs12286811
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	120/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NG_000007.3:g.48842C>T
NM_000559.2:c.316-287C>T
NT_009237.17:g.4057245G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss18712929 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12286811 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
ss18712929	SC_SNP\|SC-CHR9-12_NA17119-200402.chr11.NT_009237.16_4033944		fwd/T	A/G	aaacacacgctgacacacacacacacacgc	cgcgcgcacacacacacacacacacagagc	02/20/04	03/04/04	120	Genomic			unknown

Fasta sequence (Legend)

 TGGCCTCCAG ATAACTACAC ACCAAGCTTC CACCCAGAAT CAAGCCTATG TTAACTTCCC
 TCAAAGCCTG AGATTTTGCC TTCCCATTAA ATGCAGGTAG TTGTTCCCCT TCAAGCACTA
 GTCACTGGCC ATAATTTAAA TCTTGCTATC TTCTTGCCAC CATGAACCCT GTATGTTGTA
 GGCTGAAGAC GTTAAAAGAA acacacgctg acacacacac acacacgc
 R
 cgcgcgcaca cacacacaca cacacaGAGC TGACTTTCAA AATCTACTCC AGCCCAAATG
 TTTCAATTGT TCCTCACCCC TGGACATACT TTGCCCCCAT CTGGAATTAA AGGATATAAG
 TTTGTAATGA AGCATTAGCA GCATTTTATA TGTGTCCAGC TGATATAGGA ATAGCCTTAG
 CAATGTATGT TTGGCCACCA AAGTTCCCCA CTTTGACTGA GCCAAT

GeneView

GeneView via analysis of contig annotation: HBG1 hemoglobin, gamma A

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_009237->NM_000559

function

HuRef

NW_001838021->NM_000559

function

Celera

NW_925006->NM_000559

function

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


reference	NT_009237->NM_000559->NP_000550	4057245	reverse	intron

HuRef	NW_001838021->NM_000559->NP_000550	898549	reverse	intron

Celera	NW_925006->NM_000559->NP_000550	888995	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs12286811 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_001838021.1	898549	4929174	plus	G	alt_assembly_8	HuRef	HuRef	view	228
11	NT_009237.17	4057245	5226580	plus	G	ref_assembly	reference	reference	view	228
11	NW_925006.1	888995	5388671	plus	G	alt_assembly_1	Celera	Celera	view	228

NCBI Resource Links

Submitter-Referenced
GenBank
NT_009237

dbSNP Blast Analysis
GenBank HTGS Finished:
AC104389.8 NC_000011.8

Population Diversity

There is no frequency data.

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 .