Reference SNP(refSNP) Cluster Report: rs3087366

Reference SNP(refSNP) Cluster Report: rs3087366

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	102/130
Map to Genome Build:	36.3

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

HGVS Names
NM_001127218.1:c.908A>G
NM_006230.1:c.908A>G
NM_006230.2:c.908A>G
NP_001120690.1:p.Asn303Ser
NP_006221.1:p.Asn303Ser
NT_007819.16:g.43644783T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss4479012 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3087366 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
ss4318902	UWGC\|pold2-e7+f47		fwd/T	A/G	acgtgatgccaggcgagtttgatcccacca	ttacacgctcccccagcagcccctccaccc	11/16/01	10/10/03	102	Genomic			unknown
ss4479012	EGP_SNPS\|POLD2-008903		fwd/T	A/G	acgtgatgccaggcgagtttgatcccacca	ttacacgctcccccagcagcccctccaccc	06/06/02	01/23/04	106	Genomic			unknown

Fasta sequence (Legend)

 AGCCAGCGTG GAGGCTGTTA AGATGCTGGA TGAGATCCTC CTGCAGCTGA GCGTGAGCGA
 GCTGGGGGCT GGAGGGGTGA TGGGGATTGC AGTCTTCAAA GCTGCCACTG GGCAACAGAA
 GGCAGGCAGG AGGGCAGGGG GAGTGGCCGG AGTTGGTGTA GGGGGCTCCT TCGGGGCCCT
 GTGAGCTCTC CCTGCCCTGT GCCTTCCAGG CCTCAGTGCC CGTGGACGTG ATGCCAGGCG
 AGTTTGATCC CACCA
 R
 TTACACGCTC CCCCAGCAGC CCCTCCACCC CTGCATGTTC CCGCTGGCCA CTGCCTACTC
 CACGCTCCAG CTGGTCACCA ACCCCTACCA GGCCACCATT GATGGAGTCA GGTAGCTGGC
 ACAGCCACAC TTCAGTCTGA CCCAGCCTTT TGCCTCAGGA GGCACAAAGA AGGGAGGGGA
 GGGAGGGCCC AGGAAGGTGG CAGGGCTGCA GAGGCCCACC TAGCATCTGT TCCTTCTCTC
 TGGGGCATCC CCACA

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
dbSTS	GenBank
G73235	AY116646

dbSNP Blast Analysis

UniGene Cluster ID
306791

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	HWP	A	G
ss4318902	NIHPDR	Global	164	IG	0.988	0.012	1.000	0.994	0.006

ss4479012	PDR90	Global	178	IG	0.989	0.011	1.000	0.994	0.006

	HapMap-CEU	European	120	IG	1.000			1.000

	HapMap-HCB	Asian	90	IG	1.000			1.000

	HapMap-JPT	Asian	88	IG	1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.005+/-0.051	615	499	82	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	YES

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Revised: May 25, 2006 1:38 PM .