Reference SNP(refSNP) Cluster Report: rs8111674

Reference SNP(refSNP) Cluster Report: rs8111674

refSNP ID: rs8111674
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_001040134.1:c.269+542G>A
NM_002579.2:c.269+542G>A
NT_011255.14:g.668236G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12470513 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8111674 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
ss12470513	WI_SSAHASNP\|chr19.NT_011255.13_668236		fwd/T	A/G	gtggcaatccctgtgggggctgggaccaaa	gcctggagtttccggcgggcgggaggccca	07/04/03	10/25/06	116	Genomic			unknown

Fasta sequence (Legend)

 AGCTCGTGGG TCCCTGGAGC TGGGTGTTGC CGGCATTGGC CTCCCTGGGG GCTTCCTGGC
 GCCAGCCCAG CTGGCGGGCA AGCGCTCCCA TGGTTCGAAC GGGATGGATG CAGAGCAGCT
 GGGCCCGCAG GAAGCTCGGG CGGGGGCAGG AAGGGGACAG GATGGGGAAA GTGGCAATCC
 CTGTGGGGGC TGGGACCAAA
 R
 GCCTGGAGTT TCCGGCGGGC GGGAGGCCCA GGCTGTGCTC GGGGGCAGCA GGGTCAGGGT
 GGAGGGAAGT GACGACCAAG ATTCCAAACG TCTGCCCTGG CCAGGGAAGG TGCCCAGAGG
 CGGGAGGCCG GCCGGATCAC ACGGACCTCG CAGGCCCTTC CCAGACGCTG GGTTCTGACC
 CCGTGGGGGC CCCTCCCTGC

GeneView

GeneView via analysis of contig annotation: PALM paralemmin

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_011255->NM_001040134

function

reference

NT_011255->NM_002579

function

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


reference	NT_011255->NM_001040134->NP_001035224	668236	forward	intron

reference	NT_011255->NM_002579->NP_002570	668236	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs8111674 maps exactly once on NCBI human chromosome 19

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
19	NW_927140.1	88186	88186	minus	C	alt_assembly_1	Celera	Celera	view	200
19	NW_001838476.1	487429	498230	plus	G	alt_assembly_8	HuRef	HuRef	view	200
19	NT_011255.14	668236	679236	plus	G	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011255

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss12470513	HapMap-CEU	European	120	IG		1.000			1.000

	HapMap-HCB	Asian	90	IG		1.000			1.000

	HapMap-JPT	Asian	88	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG	0.102	0.898	0.752	0.051	0.949

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.028+/-0.116	270	210	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .