Reference SNP(refSNP) Cluster Report: rs1051225

Reference SNP(refSNP) Cluster Report: rs1051225

refSNP ID: rs1051225
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/129
Map to Genome Build:	36.3
Citation:	PubMed

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

HGVS Names

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss52067575 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1051225 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
ss1526588	LEE\|444860	fwd/T	A/G	tccttcagcctgtggccacctctggggcac	atgggggctccccactgcccagtctgcccc	09/13/00	10/10/03	86	cDNA	unknown
ss4394855	LEE\|ge444860	fwd/T	A/G	tccttcagcctgtggccacctctggggcac	atgggggctccccactgcccagtctgcccc	04/25/02	10/10/03	106	cDNA	unknown
ss4416891	LEE\|e444860	fwd/T	A/G	tccttcagcctgtggccacctctggggcac	atgggggctccccactgcccagtctgcccc	04/26/02	10/10/03	106	cDNA	unknown
ss13032240	SC_SNP\|NT_030584.9_125567	rev/B	C/T	ggggcagactgggcagtggggagcccccat	gtgccccagaggtggccacaggctgaagga	10/22/03	10/31/03	119	Genomic	unknown
ss13503465	SC_JCM\|chr1.NT_030584.10_125567	rev/B	C/T	ggggcagactgggcagtggggagcccccat	gtgccccagaggtggccacaggctgaagga	10/31/03	11/07/03	119	Genomic	unknown
ss24817041	SEQUENOM\|sqnm214742	fwd/T	A/G	tccttcagcctgtggccacctctggggcac	atgggggctccccactgcccagtctgcccc	06/18/04	08/05/04	123	cDNA	unknown
ss41338792	ABI\|hCV2190603	rev/B	C/T	ggggcagactgggcagtggggagcccccat	gtgccccagaggtggccacaggctgaagga	07/16/05	07/17/05	126	Genomic	unknown
ss52067575	SI_EXO\|NT_004610.17_125567	rev/B	C/T	ggggcagactgggcagtggggagcccccat	gtgccccagaggtggccacaggctgaagga	03/29/06	03/29/06	127	Genomic	unknown
ss87260108	BCMHGSC_JDW\|JWB-0017096	rev/B	C/T	ggggcagactgggcagtggggagcccccat	gtgccccagaggtggccacaggctgaagga	02/26/08	02/26/08	130	Genomic	unknown

Fasta sequence (Legend)

 TGCTACTTTT CATCCTCAAA ACACTCCCAT CACCAGAGTT GGGGGAGGGG CAGCGGTTCC
 CATCACCCAG CTCCACCCTG ACCCTGCCTC CTTCCTGCCC CCAATAGCTG ACCTCTGTCG
 GGACAAGTTC TCCAAATGTG GCGTGATGGC CAGCAGCGGC CTGTGCCAAT CCGTGGCGGC
 CTCCTGTGCC AGGAGCTGTG GGAGCTGCTA GGGTGGTGCT GGCATCCTGA GTCCTGGCCC
 TCCTGGGATC TGGGGCCCTC GGGCCCTGCC TGACCTGGTG CTTTTTTCCC CATCCCCATG
 TTCCTTTTAT TCTGTAAAAA GTTAGTGGAC TGCAGCCCTG GGGGTTGCAG GCTGCGGTGC
 CTCAGGCCCC TCCTTCAGCC TGTGGCCACC TCTGGGGCAC
 R
 ATGGGGGCTC CCCACTGCCC AGTCTGCCCC TCGGGTTGGG GGAGTATCCC AGGCCTCTCT
 GTGGGACCTG GGCCCCTGAC GGGCCTTCTC AGCCCGTTTT GAGGACAGAC AGTCCCCCGA
 GGTAGGCTAC ATCCCCCCAC CCCAGCTGGT CTGCTTGGAT TTCCTACAGC CCCCGTGGGC
 ATGGACCACC TTTATTTTAT ACAAAATTAA AAACAAGTTT TTACAAAAGA TCAAGTCACT
 TTTTCGGTGG AGAGCACAGA GGGGCCAGCC AAGTGCCCCC AACGCGGACT GTCCTGAGAG
 GCTCCTGACC CCTTGGAGTG AACGATCTGC TCAGGTGCCC TGTGCTTCCG CAGTCCCAGC
 CCCACCGCCT TACCCGCCGG CTCCAGCTCT GCCCTGCCCA

GeneView

GeneView via analysis of contig annotation: MFAP2 microfibrillar-associated protein 2

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

HuRef

NW_001838572->NM_002403

function

HuRef

NW_001838572->NM_017459

function

Celera

NW_927841->NM_002403

function

Celera

NW_927841->NM_017459

function

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


HuRef	NW_001838572->NM_002403->	102684	reverse	841	3' UTR

HuRef	NW_001838572->NM_017459->	102684	reverse	856	3' UTR

Celera	NW_927841->NM_002403->	100006	reverse	841	3' UTR

Celera	NW_927841->NM_017459->	100006	reverse	856	3' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: See all two hits of rs1051225 on the NCBI human genome map
!WARNING: Several map positions found! The map position is found by blasting with the contig sequences.

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
1	NW_001838572.1	102684	15545307	minus	T	alt_assembly_8	HuRef	HuRef	view	400
1	NW_927841.1	100006	15623563	minus	C	alt_assembly_1	Celera	Celera	view	400
1	NT_004610.18	125567	17173812	minus	T	ref_assembly	reference	reference	view	400
1	NT_004836.17	11739461	245048295	plus	A	ref_assembly	reference	reference	view	400

NCBI Resource Links

Submitter-Referenced
dbSTS	GenBank
sqnm214742	NT_030584 Hs.83551

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank HTGS Finished:	GenBank HTGS Draft:
NM_002403.2 NM_017459.1	AL049569.13	AL928903.3 BX284623.2

UniGene Cluster ID
389137

Population Diversity

	Sample Ascertainment				Genotypes	Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	HWP	A	G
ss24817041	CEPH		184	AF		0.550	0.450

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.495+/-0.050	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 .