Reference SNP(refSNP) Cluster Report: rs3847648

Reference SNP(refSNP) Cluster Report: rs3847648

refSNP ID: rs3847648
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	108/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_001017524.2:c.753+219C>T
NM_012239.5:c.1179+219C>T
NT_035113.6:g.158613G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss5378743 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3847648 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
ss132787	TSC-CSHL\|TSC0108717	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctgttt	09/06/00	10/10/03	108	Genomic	unknown
ss5378119	TSC-CSHL\|TSC1483505	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctgttt	09/20/02	10/10/03	108	Genomic	unknown
ss5378743	TSC-CSHL\|TSC1482085	rev/B	C/T	aaatagatgctaacaggccaagcagggaca	ggtccagacactcagggctgatgagtctgt	09/20/02	10/25/06	108	Genomic	unknown
ss5951326	SC_JCM\|NT_009407.7_4174	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctgttt	01/10/03	10/10/03	111	Genomic	unknown
ss67713525	ILLUMINA\|HumanHap650Yv1.0_rs3847648	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctattt	11/14/06	11/14/06	127	Genomic	unknown
ss71363710	ILLUMINA\|HumanHap650Yv3.0_rs3847648	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctattt	04/23/07	04/23/07	127	Genomic	unknown
ss75355658	ILLUMINA\|ILMN_Human_1M_rs3847648	fwd/T	A/G	acagactcatcagccctgagtgtctggacc	tgtccctgcttggcctgttagcatctattt	08/28/07	08/29/07	129	Genomic	unknown

Fasta sequence (Legend)

 gtctcaggta tgcctttatg agcagccaga gaacagacta atacaCTGGT GAAATCCCCT
 TTGGACAGTG TTACACCTGC CTGTAATCAT GACACTGGAC TTTAAATGCT TAATGCTACC
 ACCTCCCATT GAAAACCCTT AATATCAAGG CTACACATGC TACATGATTC TTATGGGAAA
 CTGCATTTTC TGTAACTTCA CTTGTTTATA GGCGGTTTGA AATCTCTTAG AAAGCATCAA
 GGCTCTTTGG CTTTCCTCAG CGGATTATAA TTGATCAATG GCTCTCATAC CAATTACTTC
 CGAAAAGCAT CACTCATGTA GCCTTCATCC CACATAGATG CAGAGAACTT TAGCTTCTCA
 AAGTTCTTTA ACCCGTATCA TCTTAGAATC ACATACCAGG CCTTAGAGGG ACACTGTTGG
 CTGCTTTATT TTAGGGAGTG AAGGTAACGC CTATAGTCTG TTAAGAATAC AGACTCATCA
 GCCCTGAGTG TCTGGACC
 R
 TGTCCCTGCT TGGCCTGTTA GCATCTATTT CCTCATCTCT AAATGGAGGT ATTGAAAGTA
 ACACCCAGTC AGGTCCAGGT AGTGCCTGGT GCAGGATTCA CAGCATCATC AGCTATTACT
 GTTACTGTGT TAACCAACGG GGCTCCATAT CAGGTGGACC ATACCCTAGA GCAGTGAGAA
 GGGCAGCCCC TTGGATGGTC CTCCTCAGCA GTCTGTACCT TCCCAGTTTC CCGCTGCACA
 AGGTCTCGCA TCTCTTCTGT CCAGCCCAGA AGCTCCACTA GGCTTTCCAC GCTGTGAAG

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

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


reference	NT_035113->NM_001017524->NP_001017524	158613	reverse	intron

reference	NT_035113->NM_012239->NP_036371	158613	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs3847648 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	38631	38631	plus	G	alt_assembly_8	HuRef	HuRef	view	498
11	NT_035113.6	158613	208613	plus	G	ref_assembly	reference	reference	view	498
11	NW_924951.1	139313	340249	minus	C	alt_assembly_1	Celera	Celera	view	498

NCBI Resource Links

Submitter-Referenced
GenBank
NT_009407.7

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AF015416.1 U73637.1	AP006283.1

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss5378743	HapMap-CEU	European	118	IG		0.085	0.915	0.752	0.042	0.958

	HapMap-HCB	Asian	76	IG	0.184	0.368	0.447	0.200	0.368	0.632

	HapMap-JPT	Asian	80	IG	0.125	0.400	0.475	0.584	0.325	0.675

	HapMap-YRI	Sub-Saharan African	110	IG		0.164	0.836	0.527	0.082	0.918

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.291+/-0.247	270	210	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP, NCBI

UNKNOWN

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Revised: May 25, 2006 1:38 PM .