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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1050955          
refSNP ID: rs1050955
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NT_007933.14:g.25965520G>A
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss17183296 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1050955 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss1526056LEE|431100fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa09/13/0010/10/0386cDNAunknown
ss3172282PGA-UW-FHCRC|SERPINE1-013605byFreqfwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa06/19/0104/07/0498Genomicunknown
ss4394738LEE|ge431100fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa04/25/0210/10/03106cDNAunknown
ss4416515LEE|e431100fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa04/26/0210/10/03106cDNAunknown
ss16256341CGAP-GAI|1512605rev/BC/Tttacatgtttatttatcaaaagtgaaaaagatacaattcaacacaatttcaatagcattt11/18/0311/22/03121cDNAunknown
ss17183296CSHL-HAPMAP|CSHL-HuAA-200402.chr7.NT_007933.13_25964828byFreqfwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa02/17/0410/26/06120Genomicunknown
ss22573046SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_25964828fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa03/21/0403/21/04121Genomicunknown
ss44797616ABI|hCV7610269fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa07/19/0507/19/05126Genomicunknown
ss66892241ILLUMINA|HumanHap550v1.1_rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa11/14/0611/14/06127Genomicunknown
ss66997325ILLUMINA|HumanHap650Yv1.0_rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa11/14/0611/14/06127Genomicunknown
ss68086418ILLUMINA|HumanHap250Sv1.0_rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa12/06/0612/07/06127Genomicunknown
ss70488220ILLUMINA|HumanHap550v3.0__rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa04/20/0703/30/08130Genomicunknown
ss71012562ILLUMINA|HumanHap650Yv3.0_rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa04/23/0704/23/07127Genomicunknown
ss74937155ILLUMINA|ILMN_Human_1M_rs1050955fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa08/28/0708/29/07129Genomicunknown
ss76675490AFFY|AFFY_6_1M_SNP_A-8536790rev/BC/Tatcaaaagtgaaaaagatacaattcaacacaa08/28/0708/30/07130Genomicunknown
ss83674024KRIBB_YJKIM|KHS516275fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa12/04/0712/05/07130Genomicunknown
ss83824890HGSV|Cor18956_SNV_20070510.chr7_100375895fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa11/30/0712/05/07130Genomicunknown
ss85616225HGSV|Cor19129_SNV_20070510.chr7_100375895fwd/TA/Gaaatgctattgaaattgtgttgaattgtatctttttcacttttgataaataaacatgtaa12/06/0712/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1050955|allelePos=201|totalLen=701|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGGGAGAATT GCACACAGAT GTGAAATGAA TGTAATCTAA TAGAAGCCTA ATCAGCCCAC
 CATGTTCTCC ACTGAAAAAT CCTCTTTCTT TGGGGTTTTT CTTTCTTTCT TTTTTGATTT
 TGCACTGGAC GGTGACGTCA GCCATGTACA GGATCCACAG GGGTGGTGTC AAATGCTATT
 GAAATTGTGT TGAATTGTAT
 R
 CTTTTTCACT TTTGATAAAT AAACATGTAA AAATGTTTCa aaaaaataat aaaataaata
 aataCGAAGA ATATGTCAGG ACAGTCACTG CCTTCACCTT CTCCATTTCA CACCGGTGGT
 ACAAGAAATC AGAAGCCTAg gccaggtgtg gtggttcatg cctgtaatcc cagcactttg
 ggaagccgag gtgggtggat cacctaaggt caggagtttg agaccagcct ggacaacatg
 gtgaaacccc gtctctacta aaaatacaaa aattagccgg gcgtggtggc tggcgcctgt
 aatcccagct actcgggagg ctgaggcagg agaatcactt gaagccagga ggcagaggtt
 gcagtgagct gagattgcat cactgaactc caggctgggt ggcagagcga gactccctct
 caaaaaaCAA CAACTACAAA GACAACAACA AACCCAGAAT CAAAATCCTG TTGGTCCATA
 GACCTCATGG GTGGAAGAGA

  GeneView back to top
GeneView via analysis of contig annotation: SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_007933->NM_000602
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007933->NM_000602->NP_00059325965520forward3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1050955 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839067.2133039595375658minusCalt_assembly_8HuRefHuRefview200
7NW_923618.119217095790839plusGalt_assembly_1CeleraCeleraview200
7NT_079596.2176415100140847plusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view200
7NT_007933.1425965520100569180plusGref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933 AI355792 Hs.82085
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss17183296HapMap-CEUEuropean 120IG 0.333 0.667 0.150 0.167 0.833
HapMap-HCBAsian 90IG 0.244 0.556 0.200 0.479 0.522 0.478
HapMap-JPTAsian 90IG 0.111 0.600 0.289 0.150 0.411 0.589
HapMap-YRISub-Saharan African 120IG 0.083 0.233 0.683 0.050 0.200 0.800
ss3172282PGA-AFRICAN-PANELAfrican American 48IG 0.500 0.500 0.150 0.250 0.750
PGA-EUROPEAN-PANELEuropean 46IG 0.043 0.348 0.609 1.000 0.217 0.783

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.413+/-0.18930823690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .