Reference SNP(refSNP) Cluster Report: rs1051270

Reference SNP(refSNP) Cluster Report: rs1051270

refSNP ID: rs1051270
Organism:	human (Homo sapiens)
Molecule Type:	cDNA
Created/Updated in build:	86/129
Map to Genome Build:	36.3

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

HGVS Names
NM_003081.2:c.281+196A>T
NM_130811.1:c.198A>T
NP_570824.1:p.Q66H
NT_011387.8:g.10213842A>T
NT_011387.8:g.10213843A>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1526668 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1051270 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
ss1526668	LEE\|446617		fwd/B	A/T	actggaacgcattgaggaagggatggacca	atcaataaggacatgaaagaagcagaaaag	09/13/00	10/10/03	86	cDNA			unknown
ss4416943	LEE\|e446617		fwd/B	A/T	actggaacgcattgaggaagggatggacca	atcaataaggacatgaaagaagcagaaaag	04/26/02	10/10/03	106	cDNA			unknown

Fasta sequence (Legend)

 TTGGATGAAC AAGGAGAACA ACTGGAACGC ATTGAGGAAG GGATGGACCA
 W
 ATCAATAAGG ACATGAAAGA AGCAGAAAAG AATTTGACGG ACCTAGGAAA

GeneView

GeneView via analysis of contig annotation: SNAP25 synaptosomal-associated protein, 25kDa

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_011387->NM_003081

function

reference

NT_011387->NM_130811

function

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


reference	NT_011387->NM_003081->NP_003072	10213843	forward		intron

reference	NT_011387->NM_130811->NP_570824	10213843	forward	410	missense	T	His [H]	3	66
					contig reference	A	Gln [Q]	3	66

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1051270 maps exactly once on NCBI human chromosome 20

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
20	NT_011387.8	10213843	10221843	plus	A	ref_assembly	reference	reference	view	50
20	NW_001838652.1	10225600	10225600	plus	A	alt_assembly_8	HuRef	HuRef	view	50
20	NW_927317.1	10201005	10343829	plus	A	alt_assembly_1	Celera	Celera	view	50

NCBI Resource Links

Submitter-Referenced
GenBank
L19760 Hs.84389

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank mRNA:
NM_130811.1	AK223617.1 D21267.1 L19761.1

UniGene Cluster ID
167317

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	HWP	A	T
ss1526668	CEPH		184	AF			1.000

	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
		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

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Revised: May 25, 2006 1:38 PM .