Reference SNP(refSNP) Cluster Report: rs4988415

Reference SNP(refSNP) Cluster Report: rs4988415

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	113/130
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_001197.3:c.55G>A
NP_001188.1:p.Glu19Lys
NT_011520.11:g.22910596G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss6905550 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4988415 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss6905550	EGP_SNPS\|BIK-015233		fwd/T	A/G	agagacatcttgatggagaccctcctgtat	agcagctcctggaacccccgaccatggagg	03/05/03	01/23/04	113	Genomic			unknown
ss74864797	ILLUMINA\|ILMN_Human_1M_rs4988415		fwd/T	A/G	agagacatcttgatggagaccctcctgtat	agcagctcctggaacccccgaccatggagg	08/28/07	08/29/07	129	Genomic			unknown

Fasta sequence (Legend)

 ACTTGCCCAG AGGCACACAG CCAGCATGTA GCAGGATTCA TGCCTGTGGG AGCTGGGGTT
 GGGGGATATT GACGGCTTTA GCGGATCAAA AGAGCTGGTG AGTAGGGCTA TACAATCTGG
 GGGTCATCCT GTGAGAGAGC CCCCAGACTG CTCAGTTCTT AGGGGTCCAG TCATATGCTG
 TCTTTTTGCC CCAGAGGAGA AATGTCTGAA GTAAGACCCC TCTCCAGAGA CATCTTGATG
 GAGACCCTCC TGTAT
 R
 AGCAGCTCCT GGAACCCCCG ACCATGGAGG TTCTTGGCAT GACTGACTCT GAAGAGGACC
 TGGACCCTAT GGAGGACTTC GATTCTTTGG AATGCATGGA GGGCAGGTAG GTCCCCATGG
 CCTGCCCTAC CCCCTGCCTG ATAGTGACTT CAGGGGTGGG CTGGATGAGC AGACCTTCTG
 TGAGCGGGGG AGCGCCTGCA GATGCCTCCC AGGCAGGGCC TCCGAGAGGA AGATTTCCCG
 GATGTGGGCA TGGAG

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
AY245248

dbSNP Blast Analysis

UniGene Cluster ID
475055

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss6905550	PDR90	Global	176	IG	0.011	0.989	1.000	0.006	0.994

	HapMap-CEU	European	116	IG		1.000			1.000

	HapMap-HCB	Asian	88	IG		1.000			1.000

	HapMap-JPT	Asian	86	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	116	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.003+/-0.041	692	549	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

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Revised: May 25, 2006 1:38 PM .