Reference SNP(refSNP) Cluster Report: rs4672

Reference SNP(refSNP) Cluster Report: rs4672

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	52/130
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_001135208.1:c.20G>A
NM_004470.3:c.20G>A
NM_057092.2:c.20G>A
NP_001128680.1:p.Arg7Gln
NP_004461.2:p.Arg7Gln
NP_476433.1:p.Arg7Gln

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss39886556 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4672 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
ss5294	DEBNICK\|cSNP-18	fwd/T	A/G	cgaggagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	06/04/99	10/10/03	52	cDNA	unknown
ss10699	CGAP-GAI\|52367	fwd/T	A/G	cgaggagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	08/23/99	10/10/03	52	cDNA	99 %
ss1555019	LEE\|1438840	fwd/T	A/G	tggactgagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	09/13/00	10/10/03	126	cDNA	unknown
ss4436250	LEE\|e1438840	fwd/T	A/G	tggactgagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	04/26/02	10/10/03	126	cDNA	unknown
ss16242917	CGAP-GAI\|1483110	rev/B	C/T	ctcaggcagatggacagtactgtcaggacc	ggaaccagctcagcctcatgtctctcctcg	11/18/03	11/22/03	126	cDNA	unknown
ss20825221	SSAHASNP\|WGSA-200403-chr11.chr11.NT_033903.6_9182921	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	03/19/04	03/19/04	126	Genomic	unknown
ss24790172	SEQUENOM\|sqnm94714	rev/B	C/T	ctcaggcagatggacagtactgtcaggacc	ggaaccagctcagcctcatgtctcagtcca	06/18/04	11/02/06	126	cDNA	unknown
ss39886556	ABI\|hCV2981254	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	07/16/05	08/14/07	126	Genomic	unknown
ss75269364	ILLUMINA\|ILMN_Human_1M_rs4672	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	08/28/07	08/29/07	129	Genomic	unknown
ss86270294	CORNELL\|hCV2981254	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	01/21/08	01/21/08	129	Genomic	unknown
ss97484557	HUMANGENOME_JCVI\|1103649706836	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	03/29/08	03/29/08	130	Genomic	unknown
ss110577014	1000GENOMES\|CEU.trio.12.15.2008_2560050_chr11_63766455	fwd/T	A/G	cccacagagacatgaggctgagctggttcc	ggtcctgacagtactgtccatctgcctgag	12/15/08	12/17/08	130	Genomic	unknown

Fasta sequence (Legend)

 AAGGTATGGG GGTGAGCAAA GGGGCGGGTC CCTGGCTGCT GTGGCCTCCC CTGACCCCCT
 CCCCCCGCTG CTGGGGTCCT CGGCCAAGCC CCCTTCTCAC TGGACTGGTA AGTGTGGCCC
 CGGAGCCCGG GGGAGAGGGC GGTGACCCGG GACAAAGGGG ATCCCCCGGG GCAAGGAAGA
 TACAGTGGCG GTGGAACCCT CCTGTTACCT ACCCGTGTTC CATACTCTCC CTGCCCTCCC
 CCACGTTCAG TCGGTCGGTC GGGGTCTGTG CCCACAGAGA CATGAGGCTG AGCTGGTTCC
 R
 GGTCCTGACA GTACTGTCCA TCTGCCTGAG CGCCGTGGCC ACGGCCACGG GGGCCGAGGG
 CAAAAGGAAG CTGCAGATCG GGGTCAAGAA GCGGGTGGAC CACTGTCCCA TCAAATCGCG
 CAAAGGGGAT GTCCTGCACA TGCACTACAC GGTGAGTGGG TTGGGCGGGC CTTTTGGGAG
 TGGGTGGGGC TTCCGAGGAC CAGAGAGTGC TTGGGAGTCT GGTTCTCCAT AAGCCAGGTA
 GGTGACCTTG GGCAAGTCCC CTCTCGCCTC TAAGCCAGTT TCCATGGTTC TGCCTTGCCC

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
dbSTS	GenBank
sqnm94714	NT_033903 ABBA01003291 BU956728 Hs.227729 NM_004470

dbSNP Blast Analysis

UniGene Cluster ID
227729

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss24790172	CEPH		184	AF				0.040	0.960

ss39886556	HapMap-CEU	European	110	IG	0.091	0.909		0.045	0.955

	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		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.024+/-0.107	779	635	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 .