Reference SNP(refSNP) Cluster Report: rs503830

Reference SNP(refSNP) Cluster Report: rs503830

refSNP ID: rs503830
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	83/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001013703.2:c.595-132A>G
NT_010194.16:g.11038246A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss40597718 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs503830 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
ss673841	SC_JCM\|AC025168.4_84797	fwd/B	C/T	gaatgtttacaagtgaaataaaattgaact	aacttttaatcgtttaaaatagctagaagg	07/27/00	10/10/03	83	Genomic	unknown
ss10773801	BCM_SSAHASNP\|chr15.NT_010194.15_11037300	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	06/30/03	10/10/03	116	Genomic	unknown
ss17534891	CSHL-HAPMAP\|CSHL-HuCC-200402.chr15.NT_010194.16_11038246	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	02/19/04	05/16/04	120	Genomic	unknown
ss21256282	SSAHASNP\|WGSA-200403-chr15.chr15.NT_010194.16_11038246	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	03/19/04	03/19/04	121	Genomic	unknown
ss40597718	ABI\|hCV565588	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	07/17/05	11/02/06	126	Genomic	unknown
ss76875843	CGM_KYOTO\|718177	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	09/12/07	09/12/07	129	cDNA	unknown
ss77187506	HGSV\|Cor12156_SNV_20070510.chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	10/09/07	10/11/07	129	Genomic	unknown
ss81503101	HGSV\|Cor18555_SNV_20070510.chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	11/27/07	11/30/07	130	Genomic	unknown
ss81941099	HGSV\|Cor18956_SNV_20070510.chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	11/30/07	12/01/07	130	Genomic	unknown
ss82066532	HGSV\|Cor19240_SNV_20070510.chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	11/30/07	12/02/07	130	Genomic	unknown
ss84476853	HGSV\|Cor18517_SNV_20070510.chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	12/06/07	12/07/07	130	Genomic	unknown
ss90132365	BCMHGSC_JDW\|JWB-0845840	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	02/26/08	02/29/08	129	Genomic	unknown
ss108757636	1000GENOMES\|CEU.trio.12.15.2008_3149726_chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	12/15/08	12/16/08	130	Genomic	unknown
ss114066548	1000GENOMES\|NA19240_2008_12_16_2825749_chr15_38034981	rev/T	A/G	ccttctagctattttaaacgattaaaagtt	agttcaattttatttcacttgtaaacattc	12/18/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 CAGAAATCCC AGGGACTTAC CTAGACCTTC CTGAGGAGTT TGCCCGATGT TTACCATTTC
 CTACAAAGTC AGGAGAGCCT CCATGTAGAA TGGCAGCCGT TCTGTGTCCT CCTGGGTCCT
 TCTTAGAGGT ATGATCTTGG TTTGACAAAC TAGCAATTTC CAAACGTTCC TAGAACAAGA
 AAAGTAAAAC TTACTTTAGA TGTAAGTCAT ACATGGAAGA AAATCATGGT ACATAATTAT
 TAATTCAGTA TAGAATGCAA ATTTTAAGCT GAATGTTTAC AAGTGAAATA AAATTGAACT
 Y
 AACTTTTAAT CGTTTAAAAT AGCTAGAAGG AGGATATTGA ATGTTTCCAA CACAAAGAAA
 TGCTAAATAT TTGCAGTGAC GGATGTGCTA ATTACCCTGA TCCGATCACT ATACATTATA
 TGTATCAAAA CTTCACTATA TACTCCATGA ATATATACAA CTATTATTGG TCAATTAAAA
 AATAAAATTA AAAAAATGTT AATGCCTAAA TATGTACTGG CTCAAGAACT GAAGTCCAGG
 TTATGGTTTC AAGAAAATGT AAATTTTATA AATGAAAATG CTTAGAATCT TGCAATAGTG

GeneView

GeneView via analysis of contig annotation: EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4

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_010194->NM_001013703

function

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


reference	NT_010194->NM_001013703->NP_001013725	11038246	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs503830 maps exactly once on NCBI human chromosome 15

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
15	NW_925840.1	7293737	17010968	minus	G	alt_assembly_1	Celera	Celera	view	300
15	NW_001838214.2	3627208	17091804	plus	C	alt_assembly_8	HuRef	HuRef	view	300
15	NT_010194.16	11038246	38034981	minus	A	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010194.16 AC012138

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss17534891	CEPH		184	AF					0.670	0.330

ss40597718	HapMap-CEU	European	106	IG	0.302	0.547	0.151	0.403	0.575	0.425

	HapMap-HCB	Asian	78	IG	0.949	0.051		1.000	0.974	0.026

	HapMap-JPT	Asian	72	IG	1.000				1.000

	HapMap-YRI	Sub-Saharan African	104	IG	1.000				1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.227+/-0.249	270	210	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .