Reference SNP(refSNP) Cluster Report: rs17850652

Reference SNP(refSNP) Cluster Report: rs17850652

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:	C/T
Ancestral Allele:	T
Clinical Association:	unknown

HGVS Names
NG_008601.1:g.65470A>G
NM_020320.2:c.872G>A
NM_020320.3:c.872A>G
NP_064716.2:p.Lys291Arg
NT_007299.12:g.26059437T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48427218 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17850652 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
ss28504954	MGC_GENOME_DIFF\|BC010420x29740881-T26059437C	fwd/B	C/T	tgaagaatagtaacctgatcatacattgtt	tcagtaggagtcctttactctccagcaact	08/25/04	08/25/04	123	cDNA	unknown
ss48427218	APPLERA_GI\|hCV25751393	rev/T	A/G	agttgctggagagtaaaggactcctactga	aacaatgtatgatcaggttactattcttca	09/28/05	11/03/06	126	Genomic	unknown
ss68983004	PERLEGEN\|PGP17792721	fwd/B	C/T	tgaagaatagtaacctgatcatacattgtt	tcagtaggagtcctttactctccagcaact	01/30/07	03/31/08	127	Genomic	unknown
ss74864819	ILLUMINA\|ILMN_Human_1M_rs17850652	fwd/B	C/T	tgaagaatagtaacctgatcatacattgtt	tcagtaggagtcctttactctccagcaact	08/28/07	08/29/07	129	Genomic	unknown

Fasta sequence (Legend)

 CTTTTTTCAG TTATATCATT ATCAGGTTAT ATGACCTTAA GTAGGTCACT TATATTTTCT
 GTGCTTCAGT TCCCAGCCTT ATAAAAAACA AGTAACATCC TTTCTCCAAG CCTGAACAGC
 TTTTGCTATG GAAGCAAAAT ACAGAATGTG GGAAAGTACT CTGAACAGGA AAAAGCACTA
 TAAAAAATCC CAAGAAAGCT GCACATTGCA TTCTGTTGTC CTTACTCAAA GGATACATCA
 ATAACAATTT CAAAGAACAA ATAATTTTAC TGAAGAATAG TAACCTGATC ATACATTGTT
 Y
 TCAGTAGGAG TCCTTTACTC TCCAGCAACT TTAAGACCTC TTGAGATTTT TCACGATAAA
 ATGATTCTCC TGAATATTCA TCAAAATATA CTCCCAGACG CTAAAAGAGT TCAGAAACAA
 AAAGACAAAG AAATGTTAAT TGAATCTCCT ATTCTTACCC TAAGGCAAAA TTAAGGATGC
 TCTACCACCT GTCACACACA TGAACACAAT AAAAATTAAA TCAAGGGCTG AGTGTGGTGG
 CTCATGCCCA TAATCCCAGC ACTTTGGGAG GCTGAGGCAG GAGGATCACT TGCGCCCAGG

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_000006.9 BC010420

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
ss48427218	AGI_ASP population	multiple	76	IG		0.105	0.895	0.752	0.053	0.947

ss68983004	HapMap-CEU	European	120	GF	0.017	0.100	0.883		0.067	0.933

	HapMap-HCB	Asian	90	GF		0.133	0.867		0.067	0.933

	HapMap-JPT	Asian	90	GF		0.133	0.867		0.067	0.933

	HapMap-YRI	Sub-Saharan African	120	GF	0.017	0.217	0.767		0.125	0.875

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.145+/-0.227	1245	1040	270	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 .