Reference SNP(refSNP) Cluster Report: rs34085048

Reference SNP(refSNP) Cluster Report: rs34085048

refSNP ID: rs34085048
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/129
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_024083.2:c.952G>A
NP_076988.1:p.V318M
NT_010663.14:g.181037G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48401439 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34085048 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
ss48401439	APPLERA_GI\|hCV29479620		fwd/T	A/G	ctctgcctccagcccgtggaccgggagccc	tggaccgggagccggtggtgtgccaccccg	09/28/05	11/03/06	126	Genomic			unknown

Fasta sequence (Legend)

 TGTGCCCTGC TGGGGAGCAG GGGCTCAGCA TCAGGTCTGG TGCACTGACT GGGAGAGGGG
 GGTCTCCAGC CCTGGACAGG CTCTGAGTGG GGTGGGGTCC CCCAGCTGCT GTGCCCAGCC
 CTGCCCCCAG GACCTGGCCT TGGCCCTGCG CTGGCCGGGG CCAGGGAGGG AGTGGGCCCA
 GCTCCCAAGT CTGTGTGACC ACCTCGGCTG GGGCACTGAC AGCCCGGGGT GCGGAGGGCC
 CAGCCCGTGA CACCCGCCGT CAGCCGCGCC CTCTGCCTCC AGCCCGTGGA CCGGGAGCCC
 R
 TGGACCGGGA GCCGGTGGTG TGCCACCCCG ACCTGGAGGA GCGGCTGCAG GCCTGGCCAG
 CGGAGCTGCC TGATGAGTTC TTTGAGCTGA CGGTGGACGA CGTGAGAAGA CGCTTGGCCC
 AGCTCAAGAG TGAGCGGTGG GTGCCCCCTC AGTGCCTCCC GGCATCTTCG CGCCAGGGTT
 TGCCCCATCG GGTGCTTGTG CTGCCCGCTG TCCCCAGTGC CAGCACTGGC TCCCGGCCCA
 GGTCCCTGAC AGGCTGCCCT TAACAGGACC TCAGAGGGTT GGGGCCCAGG GAGGGGCGTC

GeneView

GeneView via analysis of contig annotation: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1

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_010663->NM_024083

function

HuRef

NW_001838459->NM_024083

function

Celera

NW_926918->NM_024083

function

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


reference	NT_010663->NM_024083->NP_076988	181038	forward	1049	missense	A	Met [M]	1	318
					contig reference	G	Val [V]	1	318

HuRef	NW_001838459->NM_024083->NP_076988	214493	forward	1049	missense	A	Met [M]	1	318
					contig reference	G	Val [V]	1	318

Celera	NW_926918->NM_024083->NP_076988	17076677	forward	1049	missense	A	Met [M]	1	318
					contig reference	G	Val [V]	1	318

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs34085048 maps exactly once on NCBI human chromosome 17

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
17	NW_001838459.1	214493	75367564	plus	G	alt_assembly_8	HuRef	HuRef	view	300
17	NW_926918.1	17076677	76571276	plus	G	alt_assembly_1	Celera	Celera	view	300
17	NT_010663.14	181038	77560220	plus	G	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC137723.6 NC_000017.9	AC105341.2

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48401439	AGI_ASP population	African American	64	IG	0.094	0.125	0.781	0.005	0.156	0.844

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.264+/-0.250	32	32	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 .