Reference SNP(refSNP) Cluster Report: rs17040344

Reference SNP(refSNP) Cluster Report: rs17040344

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	123/130
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_182974.2:c.655C>T
NP_892019.2:p.Pro219Ser
NT_019501.13:g.1424926G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss76895127 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17040344 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
ss23600318	PERLEGEN\|afd2476493	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	08/10/04	09/13/04	123	Genomic	unknown
ss48425239	APPLERA_GI\|hCV25995255	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	09/28/05	11/03/06	126	Genomic	unknown
ss69305906	PERLEGEN\|PGP02476493	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	01/30/07	03/31/08	127	Genomic	unknown
ss74815836	AFFY\|SNP_M-310804	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	08/09/07	08/09/07	128	Genomic	unknown
ss74857655	ILLUMINA\|ILMN_Human_1M_rs17040344	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	08/28/07	08/29/07	129	Genomic	unknown
ss76895127	SI_EXO\|NT_019501.13_1424926	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	09/20/07	09/20/07	129	Genomic	unknown
ss115815619	ILLUMINA-UK\|NA18507_000145949_NCBI36.1_chr9_137655940	fwd/T	A/G	tgccataatagaaatctccctgtccaaacg	gatgcaagctgctgaggtcggcctcctctc	01/15/09	01/16/09	130	Genomic	99 %

Fasta sequence (Legend)

 AAGAAGAAAC ATTTATTTGG GAAGGATGTA AATTTGTATG TCTCTAAAAA ATGGAAGGTC
 TTAAGACTTC CCTCATTTAT AAGAAATTGC CGTGATTCAT TTATTCGTCA TAAACCTCAT
 GGCGTAATTC ATAATTTCCT CTGGGAATCA TGTGCGACCT TGACGTATTG GATCTGTGGA
 GGAGGAGAAA ATGCAAGATC CCAGCTGTAT GCTGGTGATA ACAGCTAGGT GGGTTTATTG
 AGGTAAAAAT ATTTGTTAAG GTGCTTTTCA TAAGTGCTAT TGAGTCCATT TTTGATGTCA
 TGAATAACTC CGTTCAGATA TTCTTTGATG AAGTCTAAAA TATTATGGGG TGTGCCACCA
 ACCATCAAGT TGCCATAATA GAAATCTCCC TGTCCAAACG
 R
 GATGCAAGCT GCTGAGGTCG GCCTCCTCTC ATAAGGGAAG TTCTTGGTGT TTCTGAAATA
 CCACCAGGCG TGGAGCTGGG CCACCAACGG GCCCAGGGTC TCCACCCCGA ACTCATTCTG
 GAAGACCTGG TTGGCAGCCA TGCTGAAGAG GAAGTCCACC TCGTCCTGGA TGTGACTGGC
 GATGTGTTCA CCCAGGCTCT TCACATGCAC CAGGGGGCCA TCGAGCCACC ACCTCTCGGT
 GCCCACTTTA AATGCTTTGA ACGTTCGAAG AGGACTGGGC TCTATGTCAG GCAGCTTGAA
 GAAGGCGTCC ACCATGATGT AGAAGATCAC TCGGTAGCCT GTCATGAAGT GCTTATTTGC
 GGAGTGTAGG AACGGCCTCA GGTACTCCTC TGCAAACCTA

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
NT_019501.13

dbSNP Blast Analysis

UniGene Cluster ID
522491

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss23600318	AFD_EUR_PANEL	European	48	IG		0.167	0.833	0.752	0.083	0.917

	AFD_AFR_PANEL	African American	46	IG	0.043	0.087	0.870	0.050	0.087	0.913

	AFD_CHN_PANEL	Asian	48	IG			1.000			1.000

ss48425239	HapMap-CEU	European	104	IG		0.077	0.923	1.000	0.038	0.962

	HapMap-HCB	Asian	90	IG			1.000			1.000

	HapMap-JPT	Asian	90	IG			1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG		0.017	0.983	1.000	0.008	0.992

	AGI_ASP population	multiple	66	IG		0.091	0.909	1.000	0.045	0.955

ss69305906	HapMap-CEU	European	120	GF	0.017	0.183	0.800		0.108	0.892

	HapMap-HCB	Asian	90	GF			1.000			1.000

	HapMap-JPT	Asian	90	GF			1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF		0.017	0.983		0.008	0.992

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.056+/-0.158	1298	1087	276	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 .