Reference SNP(refSNP) Cluster Report: rs34525967

Reference SNP(refSNP) Cluster Report: rs34525967

refSNP ID: rs34525967
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:	C/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_014742.2:c.1335C>G
NP_055557.2:p.P445P
NT_028392.5:g.941744C>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48429717 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34525967 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
ss48429717	APPLERA_GI\|hCV25620113		fwd/	C/G	gaagccgaagtagtagcccaagtagacgag	ggcagggagatcccgaaccacatgcacagc	09/28/05	11/03/06	126	Genomic			unknown

Fasta sequence (Legend)

 GGATGACACC AAGTCTGCCT ACAACCTGGT CACCTTGATC TTGGAGTGAA GTTAAGCTTT
 CATAAACTCT ATTAGAGCCG GCTGAAGCGG CAGGAACTCT GGTTGCCGCA CCCTTCTGGT
 GGCGGAGGGG GGCGTACCCT CTTCCACGTT CCCCTGCTCT TGCCTCTGCT GGAGGACTCA
 CCCCACAAAT CGGTTCATGT ACCACCGCTG CTCGGGGATC TGCCGGGGAA TCTGGTTGGT
 GCGCACAGGG TTGTCATATG GCTGCTTTCG GAAGCCGAAG TAGTAGCCCA AGTAGACGAG
 S
 GGCAGGGAGA TCCCGAACCA CATGCACAGC AGAGCCACCA TGGTGGGAAA GGGCACCTGT
 AGACATGGCA CCATGAGGCC CCCACGAGGC CCTGATGCCC GGGATGGGGG CTGCGCAAGG
 GGGAGGGGAC CTTCTGGGCT CCACAGAAGG AGAGGCGACT TGTGCAGCAG AAGCACACTC
 CCTGCCCCCA CCACAGGGCT CCTGGCCAGA ATCTCTTGAG GCTGACCCCA GCCCTGATCT
 GGACTCCCAG TGAAGAAGGC ACCTCAGCAT CCCAGAGGAG CTCACCATCC AGGGAGGAAG

GeneView

GeneView via analysis of contig annotation: TM9SF4 transmembrane 9 superfamily protein member 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_028392->NM_014742

function

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


reference	NT_028392->NM_014742->NP_055557	941745	forward	1372	synonymous	G	Pro [P]	3	445
					contig reference	C	Pro [P]	3	445

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs34525967 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	NW_927339.1	1005143	27502034	minus	C	alt_assembly_1	Celera	Celera	view	300
20	NW_001838664.2	4145540	27534450	plus	G	alt_assembly_8	HuRef	HuRef	view	300
20	NT_028392.5	941745	30209314	minus	C	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank HTGS Finished:
NM_014742.2	AL049539.21

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/G	G/G	HWP	C	G
ss48429717	AGI_ASP population	multiple	78	IG	0.051	0.949	1.000	0.026	0.974

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.050+/-0.150	39	39	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 .