Reference SNP(refSNP) Cluster Report: rs34716552

Reference SNP(refSNP) Cluster Report: rs34716552

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:	C/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_018706.5:c.1048A>G
NP_061176.3:p.Asn350Asp
NT_077569.2:g.6496468A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48422691 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34716552 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
ss48422691	APPLERA_GI\|hCV25604876	fwd/B	C/T	cactcccaccaattctgaaatgtgggagat	ggacagcgtgaatgtttcaggaacaatccc	09/28/05	11/03/06	126	Genomic	unknown
ss69070766	PERLEGEN\|PGP17791393	rev/T	A/G	gggattgttcctgaaacattcacgctgtcc	atctcccacatttcagaattggtgggagtg	01/30/07	03/31/08	127	Genomic	unknown
ss119036576	ILLUMINA-UK\|NA18507_000018769_NCBI36.1_chr10_12173578	rev/T	A/G	gggattgttcctgaaacattcacgctgtcc	atctcccacatttcagaattggtgggagtg	01/21/09	01/22/09	130	Genomic	99 %

Fasta sequence (Legend)

 AAGATCGTGC TGCTGCACTA CAGGCTGGGT GACAGAGCAA GACTCCATCT CAAAAAATTA
 ATTAATTAAT TAATTAATTA AATGAAAGGA GGGATAACCA GTGAGGCTCA TTGTTCTGTG
 TGCACCAGAG GTTTCCCTAG GAATTCCATG TCGGCTTCAG CAATATCAGT TCCTCCCTGT
 GTTACGTACC AATATCACTG CAGTATAAAG AAGACCTTCC TCTTTCAGCT GGAGTGGTGT
 AACCCAGCTG GTTATTAACA ATCAAATGCA CACTCCCACC AATTCTGAAA TGTGGGAGAT
 Y
 GGACAGCGTG AATGTTTCAG GAACAATCCC TTGACCACAG AAAGAAGCAT CACCATGGAC
 CTAAATCATG AGGCAAGGGG AGCGGGTGGG GAGAAAAGAA ACATAAGGGA TTAAGAAATC
 TAGGTTTTCA GGTTGGAATA ACTTTTTTTT TTTTTTTTTT TTGAGACAGA GTCTTGCTCT
 TTCGCCCAGG CTGGAGTGAA ATGGCACGAT CTCAGCTCAC TGCATCCTCT GCCTCCCGGG
 TTCAAGTGAT TCTCCTGCCT CAGCTTCCCT AGTAGCTGGG ATTATAGGCA TGCACCACCA

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_000010.8

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss48422691	AGI_ASP population	multiple	78	IG		0.051	0.949	1.000	0.026	0.974

ss69070766	HapMap-CEU	European	120	GF			1.000			1.000

	HapMap-HCB	Asian	90	GF		0.022	0.978		0.011	0.989

	HapMap-JPT	Asian	90	GF			1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.017	0.050	0.933		0.042	0.958

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.032+/-0.122	39	39	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 .