Reference SNP(refSNP) Cluster Report: rs55817950

Reference SNP(refSNP) Cluster Report: rs55817950

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	129/130
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
NG_000004.3:g.243880C>T
NG_007938.1:g.8801C>T
NM_000777.2:c.82C>T
NP_000768.1:p.Arg28Cys
NT_007933.14:g.24508097G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss105439418 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs55817950 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
ss75257699	ILLUMINA\|ILMN_Human_1M_SNP132-2	fwd/T	A/G	ttcccagtctcttaaaaagtccatgtgtac	ggtcccatatctacaaagtgaaacagaaat	08/28/07	08/29/07	129	Genomic	unknown
ss105434719	AFFY_DM3_1\|DMET3B14765	rev/B	C/T	atttctgtttcactttgtagatatgggacc	gtacacatggactttttaagagactgggaa	09/03/08	09/03/08	130	Genomic	unknown
ss105439418	SNP500CANCER\|CYP3A5-10	rev/B	C/T	atttctgtttcactttgtagatatgggacc	gtacayatgnactttttaagagactgggaa	09/05/08	09/05/08	130	Genomic	unknown

Fasta sequence (Legend)

 GTTGCCCAGG CTGTTCTCAA ACTCCTGGGC TCAAGCAATT TGCCAGTCTT GGCCTCACAG
 AGGCTGAGAT TACAGGCATG ATCCACTGCA CCCAGTCCCA CCATTTCTGA AAATGTGAAA
 CCTCAGAACT CCCTCCCAAG GAGGGGCATT TTTACTGATG GAACTAAGCT GATGTTTGCA
 AYCATAAGAA GCAAAAGAGG AAGCTCAAGC AACTCACCTG ACGATAGGAC AAAACATTTC
 CCAACAAAGG CAGAGGTGTG GGCCCTGGAA TTCCCAGTCT CTTAAAAAGT NCATRTGTAC
 R
 GGTCCCATAT CTACAAAGTG AAACAGAAAT CAGGTCACAG GGATTGTGAC TTTATAGATC
 AGAGGGCTGG TGAGTTACTC AGGAACTGGA ATGGTCAAGA GAGGGAGGTA ATATGTACAR
 ATAAATAATA ACAGCAACTC CAACATCAGK AATTGCATTC ACTCATCAGG TCCTTTCCTG
 ACTATTCTGA GACCCCTGAA AAGTCTCAAT GATTAGCTGA AAGCAGCTGA AGTNCTTCAT
 AGTCCCAATC CTGGAGTGAA TACTTGATAA ATGTCCTCAA ATGCTCCTGA GAGGTTCAGG

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

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
ss105439418	P1		204	GF	0.020	0.980		0.010	0.990

	CAUC1		62	GF		1.000			1.000

	AFR1		48	GF	0.083	0.917		0.042	0.958

	HISP1		46	GF		1.000			1.000

	PAC1		48	GF		1.000			1.000

	P3		558	GF	0.004	0.996		0.002	0.998

	CAUC3		132	GF		1.000			1.000

	AFR3		150	GF		1.000			1.000

	HISP3		98	GF		1.000			1.000

	PAC3		178	GF	0.011	0.989		0.006	0.994

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.008+/-0.062	0	0	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 .