Reference SNP(refSNP) Cluster Report: rs7266947

Reference SNP(refSNP) Cluster Report: rs7266947

refSNP ID: rs7266947
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/C
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NT_011387.8:g.26128911A>C
XM_378973.5:c.392T>G
XP_378973.3:p.L131R

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10957511 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7266947 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss10957511	BCM_SSAHASNP\|chr20.NT_011387.8_26128912	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	06/30/03	10/10/03	116	Genomic	unknown
ss14392690	WI_SSAHASNP\|chr20.NT_011387.8_26128912	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	11/05/03	11/22/03	119	Genomic	unknown
ss14832135	SC_SNP\|NT_011387.8_26128912	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	11/12/03	11/22/03	119	Genomic	unknown
ss16892197	CSHL-HAPMAP\|CSHL-HuAA-200402.chr20.NT_011387.8_26128912	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	02/17/04	03/04/04	120	Genomic	unknown
ss19474840	CSHL-HAPMAP\|CSHL-HuDD-200402.chr20.NT_011387.8_26128912	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	02/20/04	03/04/04	120	Genomic	unknown
ss91677980	BCMHGSC_JDW\|JWB-1435076	fwd/T	A/C	gtcccgcggcgccccgcctgggacgccgga	ggccctcggcacccaccaagacctgcctca	02/26/08	03/02/08	129	Genomic	unknown

Fasta sequence (Legend)

 ATCGGCGGGC GGCGGGCGGG GAAGGGGGCG CAGACAGGCA AGGGCCGGGG ACCGCGAGGG
 CAAGGGCACC TGGGAGCCCG CAGAGGGGCG GCTGAGGGAG AAACCTCAGG CATGGCCGGG
 CCACCAGGAA AACACGGCCG CGGGATCCCA CCGCCACAGA CACGAGGGCG GTCCCGCGGC
 GCCCCGCCTG GGACGCCGGA
 M
 GGCCCTCGGC ACCCACCAAG ACCTGCCTCA CGAGCCCCTG GTCCCGCCAC CGGGGCCCCG
 AAGCGACCAC AGCCACAAAC TCAACGCCAG GGCCACATCG CTCGTGATTC TCGTCCATCC
 TCCGACCCGG TCCCGCTCCG GGAGACCGGC GCGCCCCCAC CGTGGGACGC TTTCCCAGGG
 CCAGGCGGCC CGACCACGTG

GeneView

GeneView via analysis of contig annotation: LOC284801 hypothetical protein LOC284801

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->XM_378973

function

HuRef

NW_001838662->XM_001714287

function

Celera

NW_927317->XM_944897

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->XM_378973->XP_378973	26128912	reverse	392	missense	G	Arg [R]	2	131
					contig reference	T	Leu [L]	2	131

HuRef	NW_001838662->XM_001714287->XP_001714339	187818	forward	392	missense	G	Arg [R]	2	131
					contig reference	T	Leu [L]	2	131

Celera	NW_927317->XM_944897->XP_949990	26062571	reverse	392	missense	G	Arg [R]	2	131
					contig reference	T	Leu [L]	2	131

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7266947 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_001838662.2	187818	26074955	minus	T	alt_assembly_8	HuRef	HuRef	view	200
20	NT_011387.8	26128912	26136912	plus	A	ref_assembly	reference	reference	view	200
20	NW_927317.1	26062571	26205395	plus	A	alt_assembly_1	Celera	Celera	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011387

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank HTGS Finished:
XM_378973.4 XM_944897.2	AL121904.13 NC_000020.9

UniGene Cluster ID
370699

Population Diversity

There is no frequency data.

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 .