Reference SNP(refSNP) Cluster Report: rs3207079

Reference SNP(refSNP) Cluster Report: rs3207079

refSNP ID: rs3207079
Organism:	human (Homo sapiens)
Molecule Type:	cDNA
Created/Updated in build:	105/129
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_033296.1:c.351G>C
NP_150638.1:p.L117L
NT_006051.17:g.2730384G>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss24813855 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3207079 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
ss4437330	LEE\|e1524533		fwd/T	C/G	tgcgaagatggcagagatgctggtcgagct	gtctggcgaatagagaagagcgagtcgtcg	04/26/02	10/10/03	105	cDNA			unknown
ss24813855	SEQUENOM\|sqnm205833		fwd/T	C/G	tgcgaagatggcagagatgctggtcgagct	gtctggcgaatagagaagagcgagtcgtcg	06/18/04	08/05/04	126	cDNA			unknown

Fasta sequence (Legend)

 ACCCGAGTGG CGAAGCGGAC GAGAGAGTGT CGGAGTTGTG CGAGAAGGCT GAGGAGAAAG
 CCAAGGAGAT TGCGAAGATG GCAGAGATGC TGGTCGAGCT
 S
 GTCTGGCGAA TAGAGAAGAG CGAGTCGTCG TGAGCGCGGT CGGCGGTTTC CAGCCAATGG
 ATTCTGGTCA ACTGGTGGAG ATTGGCTGAC ACCCTGGAGA

GeneView

GeneView via analysis of contig annotation: MRFAP1 Mof4 family associated protein 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_006051->NM_033296

function

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


reference	NT_006051->NM_033296->NP_150638	2730385	forward	496	synonymous	C	Leu [L]	3	117
					contig reference	G	Leu [L]	3	117

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs3207079 maps exactly once on NCBI human chromosome 4

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
4	NW_921918.1	6544601	6544601	plus	G	alt_assembly_1	Celera	Celera	view	100
4	NW_001838898.1	512187	6574479	plus	G	alt_assembly_8	HuRef	HuRef	view	100
4	NT_006051.17	2730385	6693841	plus	G	ref_assembly	reference	reference	view	100

NCBI Resource Links

Submitter-Referenced
dbSTS	GenBank
sqnm205833	AL037610 Hs.272023

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank STS:
NM_033296.1	BV201115.1 BV201116.1

UniGene Cluster ID
406590 518608

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	C	G
ss24813855	CEPH		184	AF		0.020	0.980

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.039+/-0.134	0	0	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 .