Reference SNP(refSNP) Cluster Report: rs7821248

Reference SNP(refSNP) Cluster Report: rs7821248

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/130
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_001128829.1:c.428C>T
NM_001128830.1:c.428C>T
NM_001128831.1:c.428C>T
NM_001738.1:c.428C>T
NM_001738.2:c.428C>T
NP_001122301.1:p.Ala143Val
NP_001122302.1:p.Ala143Val
NP_001122303.1:p.Ala143Val
NP_001729.1:p.Ala143Val
NT_008183.18:g.38123827G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss11925352 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7821248 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
ss11925352	WI_SSAHASNP\|chr8.NT_078037.1_271702	fwd/T	A/G	taactcaccttcatcaaaacaccaataact	ccaaaccatcagcctttgaggcagcttcag	07/04/03	10/25/06	116	Genomic	unknown
ss74820441	AFFY\|SNP_M-322979	fwd/T	A/G	taactcaccttcatcaaaacaccaataact	ccaaaccatcagcctttgaggcagcttcag	08/09/07	08/09/07	128	Genomic	unknown
ss74884225	ILLUMINA\|ILMN_Human_1M_rs7821248	fwd/T	A/G	taactcaccttcatcaaaacaccaataact	ccaaaccatcagcctttgaggcagcttcag	08/28/07	08/29/07	129	Genomic	unknown
ss86243369	CORNELL\|hCV25598381	fwd/B	C/T	taactcaccttcatcaaaacaccaataact	ccaaaccatcagcctttgaggcagcttcag	01/21/08	01/21/08	129	Genomic	unknown

Fasta sequence (Legend)

 AGCAGAGATA AAACCAAGCA ATAAAATACT AGGGAACTAT TTGTTCACCT GTAGTCATCG
 GTTAAATGGA AACTTTAAAA TAAGAAATTC TAAAATATAT GTTGCCTTAT TTCCTTCTAT
 TTTGAGGTCT AATTGGTAAG ACAGTGGAAG CAGAGCTGTG TAATTATCTG TAACTCACCT
 TCATCAAAAC ACCAATAACT
 R
 CCAAACCATC AGCCTTTGAG GCAGCTTCAG CAAGGCTGGA GTACTTTGCA GAATTCCAGT
 GAGCTACGTG AAGCTAAAAA TGATACTATG GTTAATTAAT TATTTATACC AGTGTGATGA
 AAAAAGATAA GTTATAAGTT AACTTGTTAC CATATGATGA TGTATCTTGG CTTAGATACA
 TAAAACTTAT GTGAACCTTT

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_078037

dbSNP Blast Analysis

UniGene Cluster ID
23118

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss11925352	HapMap-CEU	European	120	IG		1.000			1.000

	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	0.317	0.683	0.150	0.158	0.842

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.086+/-0.189	1130	952	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 .