Reference SNP(refSNP) Cluster Report: rs4646422

Reference SNP(refSNP) Cluster Report: rs4646422

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	111/130
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
NG_008431.1:g.5423C>T
NM_000499.2:c.134G>A
NM_000499.3:c.134G>A
NP_000490.1:p.Gly45Asp
NT_010194.16:g.45805623C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48293666 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4646422 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
ss6311571	RIKENSNPRC\|ssj0003953	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	01/15/03	10/10/03	111	Genomic	unknown
ss28515446	NEBERTDW\|g.45805623C>T	rev/B	C/T	agggtcagcatgtgcccaatcagaggccag	cccatggccctggtggattcttcaggcctt	09/14/04	09/14/04	126	Genomic	unknown
ss32475116	BIOVENTURES\|BV01002	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	12/10/04		125	Genomic	unknown
ss48293666	SNP500CANCER\|CYP1A1-70	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	08/19/05	11/03/06	126	Genomic	unknown
ss69357097	EGP_SNPS\|CYP1A1-004392	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	02/16/07	03/31/08	127	Genomic	unknown
ss74814096	AFFY\|SNP_M-305579	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	08/09/07	08/09/07	128	Genomic	unknown
ss75263353	ILLUMINA\|ILMN_Human_1M_rs4646422	fwd/T	A/G	aaggcctgaagaatccaccagggccatggg	ctggcctctgattgggcacatgctgaccct	08/28/07	08/29/07	129	Genomic	unknown
ss76861333	CGM_KYOTO\|1385	rev/B	C/T	agggtcagcatgtgcccaatcagaggccag	cccatggccctggtggattcttcaggcctt	09/12/07	09/12/07	129	cDNA	unknown
ss84156050	PHARMGKB_AB_DME\|PS206234_PA150024627_301	rev/B	C/T	agggtcagcatgtgcccaatcagaggccag	cccatggccctggtggattcttcaggcctt	12/06/07	12/10/07	130	Genomic	unknown
ss84386268	HGSV\|Cor18555_SNV_20070510.chr15_72802358	rev/B	C/T	agggtcagcatgtgcccaatcagaggccag	cccatggccctggtggattcttcaggcctt	11/27/07	12/07/07	130	Genomic	unknown

Fasta sequence (Legend)

 CCCACCTCAC CCTCTTCTTC ATGCCCAGTA AGCAGTTCTG GTGGAAAGGT TTCCCCTTTC
 CCTGACACTC TAGATATTGG CTTTTCTCAT CCCCCAATCT GACGGCTTGA CTTTTTTTCT
 TCCTGCACCT TCTCTCAGCA GCCACCTCCA AGATCCCTAC ACTGATCATG CTTTTCCCAA
 TCTCCATGTC GGCCACGGAG TTTCTTCTGG CCTCTGTCAT CTTCTGTCTG GTATTCTGGG
 TAATCAGGGC CTCAAGACCT CAGGTCCCCA AAGGCCTGAA GAATCCACCA GGGCCATGGG
 R
 CTGGCCTCTG ATTGGGCACA TGCTGACCCT GGGAAAGAAC CCGCACCTGG CACTGTCAAG
 GRTGAGCCAG CAGTATGGGG ACGTGCTGCA GATCCGAAYT GGCTCCACAC CCGTGGTGGT
 GCTGAGCGGC CTGGACACCA TCYGGCAGGC CCTGGTGCGG CAGGGCGAYG ATTTCAAGGG
 NNGGCCYKAC CTCTACACCT TCACCCTCAT CAGTAATGGT CAGAGCATGT CCTTCAGCCC
 AGACTCTGGA CCRGTGTGGS CTGCCCGCCG GCGCCTGGCC CAGAATGGCC TGAAAAGTTT

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
X04300.1

dbSNP Blast Analysis

UniGene Cluster ID
72912

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48293666	P1		204	AF		0.059	0.941	0.752	0.029	0.971

	CAUC1		62	AF			1.000			1.000

	AFR1		48	AF			1.000			1.000

	HISP1		46	AF			1.000			1.000

	PAC1		48	AF		0.250	0.750	0.527	0.125	0.875

	HapMap-CEU	European	116	IG			1.000			1.000

	HapMap-HCB	Asian	88	IG		0.295	0.705		0.148	0.852

	HapMap-JPT	Asian	86	IG	0.023	0.256	0.721		0.151	0.849

	HapMap-YRI	Sub-Saharan African	116	IG			1.000			1.000

ss69357097	EGP_YORUB-PANEL	Sub-Saharan African	24	AF						1.000

	EGP_HISP-PANEL	Hispanic	44	AF						1.000

	EGP_CEPH-PANEL	European	44	AF						1.000

	EGP_AD-PANEL	African American	30	AF						1.000

	EGP_ASIAN-PANEL	Asian	46	AF					0.152	0.848

ss84156050	PA150024628		352	AF					0.057	0.943

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.089+/-0.191	610	494	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	YES

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .