Reference SNP(refSNP) Cluster Report: rs4988441

Reference SNP(refSNP) Cluster Report: rs4988441

refSNP ID: rs4988441
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	113/129
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.*10G>A
NT_011520.11:g.22915834G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss6905585 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4988441 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
ss6905585	EGP_SNPS\|BIK-020474		fwd/T	A/G	ctgcacctgctgctcaagtgaggccccggc	gctcagggcggggctggccccacccccatg	03/05/03	01/23/04	113	Genomic			unknown

Fasta sequence (Legend)

 TCCCCCTCTC CTGAACTCCT TCCTTCTCTG GTCCCCTCGA GCTCCTTCCC AGTCCCCACC
 CTCCTGGGCT TCCCCTTGGC ACTCCGCTGT CACCCGTCTG GCCCCATTGC TGGGGCCTGC
 CCCGAGCCTG ACTCCTCTGC TTTGCTCCCA CAGGTGTCCT GCGAACAGGt gctgctggcg
 ctgctgctgc tgctggcgct gctgctgccg ctgctCAGCG GGGGCCTGCA CCTGCTGCTC
 AAGTGAGGCC CCGGC
 R
 GCTCAGGGCG GGGCTGGCCC CACCCCCATG ACCACTGCCC TGGAGGTGGC GGCCTGCTGC
 TGTTATCTTT TTAACTGTTT TCTCATGATG CCTTTTTATA TTTAAACCCC GAGATAGTGC
 TGGAACACTG CTGAGGTTTT ATACTCAGGT TTTTTGTTTT TTTTTTATTC CAGTTTTCGT
 TTTTTCTAAA AGATGAATTC CTATGGCTCT GCAATTGTCA CCGGTTAACT GTGGCCTGTG
 CCCAGGAAGA GCCAT

GeneView

GeneView via analysis of contig annotation: BIK BCL2-interacting killer (apoptosis-inducing)

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_011520->NM_001197

function

HuRef

NW_001838747->NM_001197

function

Celera

NW_927650->NM_001197

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function


reference	NT_011520->NM_001197->	22915834	forward	553	3' UTR

HuRef	NW_001838747->NM_001197->	345454	reverse	553	3' UTR

Celera	NW_927650->NM_001197->	615342	forward	553	3' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4988441 maps exactly once on NCBI human chromosome 22

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
22	NW_001838747.2	345454	26483718	minus	C	alt_assembly_8	HuRef	HuRef	view	255
22	NW_927650.1	615342	27435709	plus	G	alt_assembly_1	Celera	Celera	view	255
22	NT_011520.11	22915834	41855265	plus	G	ref_assembly	reference	reference	view	255

NCBI Resource Links

Submitter-Referenced
GenBank
AY245248

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AL022237.1 NC_000022.9	AC000406.2

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
ss6905585	PDR90	Global	154	IG	0.013	0.987	1.000	0.006	0.994

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.013+/-0.079	90	90	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 .