Reference SNP(refSNP) Cluster Report: rs3094270

Reference SNP(refSNP) Cluster Report: rs3094270

refSNP ID: rs3094270
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	103/129
Map to Genome Build:	36.3

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

HGVS Names
NM_002308.3:c.444+798C>A
NM_009587.2:c.445-379C>A
NT_010799.14:g.707166C>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss4329629 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3094270 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
ss4329629	SC_JCM\|AB040130.1_5681		fwd/T	A/C	gggaagattagggtatgctggacccacatt	ccacagggcaccagcagctgggtgggagct	02/19/02	10/10/03	103	Genomic			unknown

Fasta sequence (Legend)

 TGGTGGAGGT ctgcagtcct ggctactcaa gaggctgagg tgggagaatt gcttgagccc
 aggaattaga gttctgtctg ggcaaaacag cagacctgtc tccaaaaCTT TGtttaaata
 taaataataa ataaaCTAAA TAGGTCAGGA GATACCATAC CTGTGAAAAT GGGAAGATTA
 GGGTATGCTG GACCCACATT
 M
 CCACAGGGCA CCAGCAGCTG GGTGGGAGCT GCTGTTACCC TTTGGCATTC GAGGCTGCTC
 CCTGAGATCA GCGAAGCACA CAGTAGGACC CTCAGCAAAT CTGGCCTTCT CGCCCTTTGG
 TCCTCATCTC TCATTCCCTC CTTCCCTGAC TCTCTCCCCC GCGGGTGGTA GGGGAGGGAA
 GAGCTGGAGG GAGACCGCAC

GeneView

GeneView via analysis of contig annotation: LGALS9 lectin, galactoside-binding, soluble, 9

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_010799->NM_002308

function

reference

NT_010799->NM_009587

function

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


reference	NT_010799->NM_002308->NP_002299	707166	forward	intron

reference	NT_010799->NM_009587->NP_033665	707166	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs3094270 maps exactly once on NCBI human chromosome 17

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
17	NW_001838430.2	4429011	22177310	minus	G	alt_assembly_8	HuRef	HuRef	view	200
17	NW_926750.1	698448	22831978	plus	C	alt_assembly_1	Celera	Celera	view	200
17	NT_010799.14	707166	22994299	plus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
AB040130 AC068106

dbSNP Blast Analysis

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 .