Reference SNP(refSNP) Cluster Report: rs11695723

Reference SNP(refSNP) Cluster Report: rs11695723

refSNP ID: rs11695723
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:	C/T
Ancestral Allele:	T
Clinical Association:	unknown

HGVS Names
NM_000541.3:c.1102+1405T>C
NT_005120.15:g.185131T>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss16880845 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11695723 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
ss16880845	CSHL-HAPMAP\|CSHL-HuAA-200402.chr2.NT_005120.14_182911		fwd/B	C/T	agcttagttgacgggaaagaaaaacagatc	gtctaaatgagaactctccgtaggtatagg	02/17/04	03/04/04	120	Genomic			unknown

Fasta sequence (Legend)

 GTAAGAATAC AGAAAATACT AGAAAAGAGG GTCAGGCTGG GTTCCTGACA CCTCAGCTCA
 TTTGAATTAT AAATCTACTG GCTCTTGTAT GGATGCGAAA TGATGCAATA GTTGTATGAC
 TCTGAAAACA TATAAAAACC ACTAGACTGT CGACTGTGAA AAGGTAAATT GTATGATATA
 TGAATTTGAT CTCAATCATT CTCTTTCTAA AAAGGTAAAT GAAGCAGCAA AAATAATATA
 GGTGAAATCT CAGAAATTCT GAAGAAACAT TCTCTGCATC GAGGCAGCTT AGTTGACGGG
 AAAGAAAAAC AGATC
 Y
 GTCTAAATGA GAACTCTCCG TAGGTATAGG AATAAGGGAT ATTTTAAGTA AAAGTGGTAT
 AAACAAGCAG GGTTTATTTT TCTCATACTT TACAAATAGC TTTTCTATAT TGGTAGTGAA
 ATGCCGTTTA AACATTAGAA TGAGCCCCCA CTATTCATTT TAGGTTTTGT CTCAACAGTA
 CTTTGTTTCA AAATAGCTCT

GeneView

GeneView via analysis of contig annotation: SAG S-antigen; retina and pineal gland (arrestin)

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_005120->NM_000541

function

HuRef

NW_001838868->NM_000541

function

Celera

NW_921618->NM_000541

function

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


reference	NT_005120->NM_000541->NP_000532	185131	forward	intron

HuRef	NW_001838868->NM_000541->NP_000532	198704	forward	intron

Celera	NW_921618->NM_000541->NP_000532	38888423	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs11695723 maps exactly once on NCBI human chromosome 2

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
2	NW_001838868.1	198704	226053162	plus	T	alt_assembly_8	HuRef	HuRef	view	315
2	NW_921618.1	38888423	227973893	plus	T	alt_assembly_1	Celera	Celera	view	315
2	NT_005120.15	185131	233917116	plus	T	ref_assembly	reference	reference	view	315

NCBI Resource Links

Submitter-Referenced
GenBank
NT_005120

dbSNP Blast Analysis
GenBank mRNA:
BX537502.1

UniGene Cluster ID
32721

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 .