Reference SNP(refSNP) Cluster Report: rs1794095

Reference SNP(refSNP) Cluster Report: rs1794095

refSNP ID: rs1794095
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	89/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001017524.2:c.381+62G>A
NM_012239.5:c.807+62G>A
NT_035113.6:g.170390C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss2660177 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1794095 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
ss2660177	SC_JCM\|U73637.1_14937		fwd/B	C/T	tgtccttttgagacaatgctaataaaatac	acttttccagatcaccccaacatctaactg	11/03/00	10/10/03	89	Genomic			unknown

Fasta sequence (Legend)

 CAGAGTGAGA CTCAATCTCa aaaaaaaaaa aaaaaaaaaG TGGGCAGCTG GAATTGGCTG
 AAGGGAGATT CATTTTCCCT ACATATTTCT ATATTGTCTT AAATTTTTTT ACAAGCATGT
 ATTGATTTTC TAATTTACAA ATAAAATGTT TCACACTATT ATTGTTCAAC TGTCCTTTTG
 AGACAATGCT AATAAAATAC
 Y
 ACTTTTCCAG ATCACCCCAA CATCTAACTG CAGAAGGACA ACCAACAGCA GGATAACTCA
 CCCGAATGTC CTCCCCTGGG AAGGGTCTTT GGCAGACTGT GCAGTTGGCA GAGCCAAGGT
 TCCATGAGCT TCAACCAGCT TTGAGGCAGG GATGCCCGAC ACTGAAATTC AAGCCAAAGC
 GAAGTGTTGC TGCCGCCTCC

GeneView

GeneView via analysis of contig annotation: SIRT3 sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)

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_035113->NM_001017524

function

reference

NT_035113->NM_012239

function

HuRef

NW_001838015->NM_001017524

function

HuRef

NW_001838015->NM_012239

function

Celera

NW_924951->NM_001017524

function

Celera

NW_924951->NM_012239

function

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


reference	NT_035113->NM_001017524->NP_001017524	170390	reverse	intron

reference	NT_035113->NM_012239->NP_036371	170390	reverse	intron

HuRef	NW_001838015->NM_001017524->NP_001017524	50041	reverse	intron

HuRef	NW_001838015->NM_012239->NP_036371	50041	reverse	intron

Celera	NW_924951->NM_001017524->NP_001017524	127825	forward	intron

Celera	NW_924951->NM_012239->NP_036371	127825	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1794095 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_001838015.1	50041	50041	plus	C	alt_assembly_8	HuRef	HuRef	view	200
11	NT_035113.6	170390	220390	plus	C	ref_assembly	reference	reference	view	200
11	NW_924951.1	127825	328761	minus	G	alt_assembly_1	Celera	Celera	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
U73637 AF015416

dbSNP Blast Analysis
GenBank HTGS Finished:
U73637.1

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	HWP	C
ss2660177	HapMap-CEU	European	120	IG	1.000		1.000

	HapMap-HCB	Asian	90	IG	1.000		1.000

	HapMap-JPT	Asian	90	IG	1.000		1.000

	HapMap-YRI	Sub-Saharan African	120	IG	1.000		1.000

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