Reference SNP(refSNP) Cluster Report: rs34810717

Reference SNP(refSNP) Cluster Report: rs34810717

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_016734.1:c.964G>A
NP_057953.1:p.Ala322Thr
NT_008413.17:g.36872049C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48424611 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34810717 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
ss48424611	APPLERA_GI\|hCV25609951		fwd/T	A/G	ctccccgggtaccctccacacgtccccccc	ctggacagggcagctactcagcaccgacgc	09/28/05	11/03/06	126	Genomic			unknown
ss69289753	PERLEGEN\|PGP17793087		rev/B	C/T	gcgtcggtgctgagtagctgccctgtccag	gggggggacgtgtggagggtacccggggag	01/30/07	03/31/08	127	Genomic			unknown

Fasta sequence (Legend)

 TCCCTGACTC TGTTCTTGCT GAGTGGAGCG AGGGTGGCTG GAGATGTGTG TGCATGAGTG
 TGTGTGTGTG TGTGTGTGTG TGTGTATGTG TGTTTGTGAG AGCGTGTGAG CGACAGGGGG
 GAGCTGGGGG CACATTGCCG TTCAGCGTCC AAACGTGACA AATGTGCAGA AGCGTCCAGG
 GAGCTGTGGA CATGAGCGGC TGGCCGCGAA GATGCTCACC CTGTGATTTG TTGCTTTGAT
 TCCTCAGGCC GTGACTTGGC GAGCACGACC CTCCCCGGGT ACCCTCCACA CGTCCCCCCC
 R
 CTGGACAGGG CAGCTACTCA GCACCGACGC TGACAGGGAT GGTGCCTGGT GAGTTTGCAC
 TGTCGGCGTC TCCACAGCAG GCAGCGGACG GGGTTTCGGT GGGGGGACAT CCCCCCCCAA
 ACAGCCTGGG TGACCTCTAC GCTTCTGAGA AGCGGACCTG AATAAATCAG GCAGAGGTCT
 GCACTCTCTG CAGCTGGGCC TGCAGTGGGC CCTGGACCAG CCAGCAGCGG CACCAGGGAG
 GACACCGGGG GCGAGGGGAG GGTCTTTGAC TGTCACTCAA ACAGGCCTTG TTGGCCACGT

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
NC_000009.9

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss48424611	AGI_ASP population	multiple	76	IG	0.053	0.947	1.000	0.026	0.974

ss69289753	HapMap-CEU	European	120	GF	1.000			0.500	0.500

	HapMap-HCB	Asian	90	GF	1.000			0.500	0.500

	HapMap-JPT	Asian	90	GF	1.000			0.500	0.500

	HapMap-YRI	Sub-Saharan African	120	GF	1.000			0.500	0.500

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.489+/-0.072	38	38	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

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Revised: May 25, 2006 1:38 PM .