Reference SNP(refSNP) Cluster Report: rs1256768

Reference SNP(refSNP) Cluster Report: rs1256768

refSNP ID: rs1256768
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	87/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NT_037887.4:g.4565274A>G
XM_296817.7:c.793A>G
XP_296817.7:p.I265V

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss43869674 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1256768 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
ss1921074	KWOK\|OVLP-000925-611422	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	10/06/00	04/07/04	87	Genomic	99 %
ss2483791	SC_JCM\|AC013282.5_9052	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	11/03/00	10/10/03	89	Genomic	unknown
ss21318603	SSAHASNP\|WGSA-200403-chr16.chr16.NT_010552.13_1966708	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	03/19/04	03/19/04	121	Genomic	unknown
ss43869674	ABI\|hCV3237707	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	07/18/05	11/03/06	126	Genomic	unknown
ss69336414	PERLEGEN\|PGP04622974	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	01/30/07	08/14/07	127	Genomic	unknown
ss74911307	ILLUMINA\|ILMN_Human_1M_rs1256768	fwd/T	A/G	accaccaagtaccttgaagctactcgtgcc	tccaggtctccgagcccgtccaaaaccccc	08/28/07	08/29/07	129	Genomic	unknown

Fasta sequence (Legend)

 CTTCTCTCCA GAATAAGTTT AAAACCATCC CCAAAACCGA GGACATGGTG CTCTGGAGTG
 GCCTTCATGA TGCCATGTTC ACCTCAGTGA GTGAGGAAGG AAGGGGAGGT TAGCAGGAAG
 CTGGGGAGCA GGCGGGTGGC TGACTGAGAG TGGGAGGCGG GGCTGGAAGC CAGCAGAGCC
 CCTCTGCCCC CTCTTCTGCA GGAAATTGGT TCATCACCAC TGGACCTGTG GCAGTCTGTA
 GAGCAGCTCC CAGAGGCTGC CCTGGCCCAG ACCACCAAGT ACCTTGAAGC TACTCGTGCC
 R
 TCCAGGTCTC CGAGCCCGTC CAAAACCCCC AGCTACTGCA GACTGTCTGG CATTATGAGG
 TCCCAGAGCT CCTCCCGGAG GGCTCATCTG CCCAAGCAGT TTCACTCAGC AGAGCCCAGG
 AGCCAGCGCA GCCTCCGGCC CTCACGCCTG AGTCTGCACC TGGGTGCACA ACTGAATTTG
 CACCTGGGCC TGCACCTGGG ACTGAACCTG TGCCAGGACT GGAGCTGGGG CTGGAGCTGG
 AGCCTGTGCC TGCCCTGGGG CCTGTCCCAG GGCCCAGTGT GACACCTGGG TCCTTGCCAG

GeneView

GeneView via analysis of contig annotation: LOC342346 Uncharacterized protein ENSP00000371449

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_037887->XM_296817

function

HuRef

NW_001838341->XM_001715874

function

Celera

NW_926018->XM_940260

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_037887->XM_296817->XP_296817	4565275	forward	793	missense	G	Val [V]	1	265
					contig reference	A	Ile [I]	1	265

HuRef	NW_001838341->XM_001715874->XP_001715926	1924082	forward	793	missense	A	Ile [I]	1	265
					contig reference	G	Val [V]	1	265

Celera	NW_926018->XM_940260->XP_945353	4549778	forward	793	missense	A	Ile [I]	1	265
					contig reference	G	Val [V]	1	265

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1256768 maps exactly once on NCBI human chromosome 16

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
16	NT_037887.4	4565275	4565275	plus	A	ref_assembly	reference	reference	view	300
16	NW_001838341.1	1924082	4592252	plus	G	alt_assembly_8	HuRef	HuRef	view	300
16	NW_926018.1	4549778	4834128	plus	G	alt_assembly_1	Celera	Celera	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010552 AC007606 AC023830 AC023830.4

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
XM_296817.7 XM_940260.2

UniGene Cluster ID
525906

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss1921074	CEPH		184	AF					0.730	0.270

ss43869674	HapMap-CEU	European	120	IG	0.600	0.333	0.067	0.655	0.767	0.233

	HapMap-HCB	Asian	90	IG	0.667	0.333		0.200	0.833	0.167

	HapMap-JPT	Asian	88	IG	0.864	0.136		0.655	0.932	0.068

	HapMap-YRI	Sub-Saharan African	120	IG	0.883	0.117		0.655	0.942	0.058

ss69336414	HapMap-CEU	European	120	GF	0.600	0.333	0.067		0.767	0.233

	HapMap-HCB	Asian	90	GF	0.667	0.333			0.833	0.167

	HapMap-JPT	Asian	90	GF	0.867	0.133			0.933	0.067

	HapMap-YRI	Sub-Saharan African	120	GF	0.883	0.117			0.942	0.058

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.232+/-0.249	270	210	270	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

Validated by: ILLUMINA

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .