Reference SNP(refSNP) Cluster Report: rs3212057

Reference SNP(refSNP) Cluster Report: rs3212057

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	105/130
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_001100118.1:c.281G>A
NM_001100119.1:c.281G>A
NM_005432.3:c.281G>A
NP_001093588.1:p.Arg94His
NP_001093589.1:p.Arg94His
NP_005423.1:p.Arg94His
NT_026437.11:g.85173218C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss105434899 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3212057 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
ss4472428	EGP_SNPS\|XRCC3-010371		fwd/T	A/G	tgggctgcccggtgctggacgcgctgctcc	cggtggcctgcccctggacggcatcactga	05/15/02	04/07/04	105	Genomic			unknown
ss105434899	SNP500CANCER\|XRCC3-07		fwd/T	A/G	tgggctgcccggtgctggacgcgctgctcc	cggtggcctgcccctggacggcatcactga	09/05/08	09/05/08	130	Genomic			unknown

Fasta sequence (Legend)

 GGGCTCCCCC TGACTCTGCA TCTCAGGTGC ACCCGCCCTT CCCGGCTGGG CCCCCCTCCC
 TGCCCTCAGC ACCTTGCTCA CCCCCATGAC CGCAGGCACY TGTGCTCCAG CCACACTGCA
 CCTGGCACAG GCAGGCTGAC CRTGCCTCCC GCAGTCCCCA GCCCTGCCCG CAGGCCCAGG
 AGAGTCAGGC CTGACACTAT CCCTGCCCTT TAGCACTGCA GCTGCACCAG CAGAAGGAGC
 GGTTCCCCAC GCAGCACCAG CGCCTGAGCC TGGGCTGCCC GGTGCTGGAC GCGCTGCTCC
 R
 CGGTGGCCTG CCCCTGGACG GCATCACTGA GCTGGCCGGA CGCAGCTCGG CAGGGAAGAC
 CCAGCTGGCG CTGCAGCTCT GCCTGGCTGT GCAGTTCCCG CGGCAGCACG GAGGCCTGGA
 GGCTGGTGAG TGGCCACCCC TTCCGTGGGG TCTGGGCAGG TGGGCGGCCC CTGCTTTGTG
 TGGGRCAGCT TTCCGTTGAG GTGGGGCAGT GGCCGCCTCT TGCGCTGTTC CTACCATTGC
 GTCTCCCTCC TTCTCACCCT GATTGCCCTC GCTCCTTCCA GAACAGGGAG GGGGAAGTGA

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
GenBank
AF508041

dbSNP Blast Analysis

UniGene Cluster ID
549075

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss105434899	P1		202	GF		0.010	0.990		0.005	0.995

	CAUC1		62	GF			1.000			1.000

	AFR1		48	GF		0.042	0.958		0.021	0.979

	HISP1		44	GF			1.000			1.000

	PAC1		48	GF			1.000			1.000

ss4472428	PDR90	Global	156	IG	0.013	0.038	0.949	0.001	0.032	0.968

	HapMap-CEU	European	120	IG			1.000			1.000

	HapMap-HCB	Asian	88	IG			1.000			1.000

	HapMap-JPT	Asian	88	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
	0.014+/-0.083	615	499	0	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 .