Reference SNP(refSNP) Cluster Report: rs11557049

Reference SNP(refSNP) Cluster Report: rs11557049

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	120/130
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
NM_002603.1:c.149G>A
NM_002603.2:c.149G>A
NM_002604.1:c.227G>A
NM_002604.2:c.227G>A
NP_002594.1:p.Gly50Glu
NP_002595.1:p.Gly76Glu
NT_008183.18:g.18545364C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss108094145 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11557049 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
ss16263003	CGAP-GAI\|1526175	fwd/T	A/G	taggagatgtacgtgtaaggagccgagcag	atttgaatcagaaagaagaggttctcaccc	11/18/03	11/22/03	120	cDNA	unknown
ss69050884	PERLEGEN\|PGP04763403	rev/B	C/T	gggtgagaacctcttctttctgattcaaat	ctgctcggctccttacacgtacatctcctg	01/30/07	03/31/08	127	Genomic	unknown
ss74965109	ILLUMINA\|ILMN_Human_1M_rs11557049	fwd/T	A/G	taggagatgtacgtgtaaggagccgagcag	atttgaatcagaaagaagaggttctcaccc	08/28/07	08/29/07	129	Genomic	unknown
ss86247347	CORNELL\|hCV25628546	rev/T	A/G	gggtgagaacctcttctttctgattcaaat	ctgctcggctccttacacgtacatctcctg	01/21/08	01/21/08	129	Genomic	unknown
ss108094145	1000GENOMES\|CEU.trio.12.15.2008_2004656_chr8_66854565	rev/B	C/T	gggtgagaacctcttctttctgattcaaat	ctgctcggctccttacacgtacatctcctg	12/15/08	12/15/08	130	Genomic	unknown

Fasta sequence (Legend)

 CTGAGATTTT GTGAACCCTT TTGAATAAAT CAGCTCTTAA CTACCTGTTC CACATATATG
 ATCAGTGGGC TGTTACTTAT GAATATGATA CCACACGGAC CTTTGTTGCA TATGGAAGCT
 TCTTCCCGAA TGACAACCTT CTAAACTTAT GTTTTATTCT TGATTCTGTC CAGGAGATGT
 ACGTGTAAGG AGCCGAGCAG
 R
 ATTTGAATCA GAAAGAAGAG GTTCTCACCC ATATATTGAT TTTCGTATTT TCCACTGTAA
 GTGTTGGTAG ACATGAAGTT TCTCGGATTT TCACTACAAA TTTTAATAAA ATTACACAGT
 TTTCCAAGGG AAAAAGAATA CCAGAAAAAA AACTCTATTA TGTTTGGAAT GTTTTTAAAA
 CCTAGGTCAT GTAAATGACA

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_000008.9 AW572922

dbSNP Blast Analysis

UniGene Cluster ID
527119

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss69050884	HapMap-CEU	European	120	GF	0.017	0.133	0.850		0.083	0.917

	HapMap-HCB	Asian	90	GF			1.000			1.000

	HapMap-JPT	Asian	90	GF			1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF			1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.046+/-0.145	959	809	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 .