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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2032283          
refSNP ID: rs2032283
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:94/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_198996.2:c.1359-13554G>A
NT_011512.10:g.1156826C>T
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 ss16136068 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2032283 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
ss2941205TSC-CSHL|TSC1105632byFreqfwd/BC/Tgaagaagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaacacctat01/26/0104/07/0494Genomicunknown
ss16136068SC_SNP|NT_011512.9_1156826byFreqfwd/BC/Tgaagaagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaacacctat11/18/0310/26/06120Genomicunknown
ss24225866PERLEGEN|afd0003909byFreqfwd/BC/Tgaagaagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaacacctat08/10/0409/13/04123Genomicunknown
ss44271577ABI|hCV11724843fwd/BC/Tgaagaagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaacacctat07/18/0507/18/05126Genomicunknown
ss66007773AFFY|SNP_A-1732328fwd/BC/Tagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaaca10/26/0610/26/06127Genomicunknown
ss66098414AFFY|SNP_A-1968972byFreqfwd/BC/Ttgattgtaactttcaaggaccacacatgaatt10/27/0608/14/07127Genomicunknown
ss76062083AFFY|AFFY_6_1M_SNP_A-1968972fwd/BC/Ttgattgtaactttcaaggaccacacatgaatt08/28/0708/29/07129Genomicunknown
ss91771279BCMHGSC_JDW|JWB-1469601fwd/BC/Tgaagaagaatgtcctgattgtaactttcaaggaccacacatgaattcagccaacacctat02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2032283|allelePos=2000|totalLen=3775|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TTATGTTATG CCCTCATTAG AGCCTCCCCT TGCAGAGACT CCTAACTACT CATCCAGTGA
 GAAGGTGTGG TTCACACAGG AAAATGGGTG TTATCAAAAA GGAGGCTGGT GGAAGTTTTC
 AGATGGGGAG GCGTGCCATT CCAGAAGCCA TTGCCCCCCA ATTTATAATG CAGTTTCACC
 AAGGAACACA CATGGGGAAG ACAGCTTTAG AAATTCTCGT AGGGCAATAT TTCTATGTGC
 CATGCCTAAC TGCCATCACT CGAGCCATCT GTGAGCAGTG TGTTACTTGC ATCCAGAATA
 ACCTAAGGAA AGGGCCTACT CAGACCCCAG GAATTCAGGA AACAGGAGCA GTGCCATGTG
 AAAACCTGCT TGTAAACTTT ACCAAACTGC CTCAGGCTGG AGGCTGTCAG TACATATTAG
 TGTTTGCACC TTTTCAGGGT GGATCAAGGC ATTCCCCACC AGGACAGAAA AGGCATGAGA
 AATAACCAGG ATATTATTAA AAGATATTAT TCTTAGATTT AGAATGCCTC TACCTTTAGG
 CTCGGACAAC AGACCAGCTT TTGTAGCAGA AGTAGTACAG CAACTGACTC AGATCTTATA
 GATTAAATGA AAACTGCATA CAGCCTATCA ACCACAAAGT TCTGGAAAGG TTGAGAGAAT
 GAACAAGACA CCGAAACAAC TGTTGAAGAA GTTTTGCCAA GAGACTCATT TAAGATGGGA
 TCAGGTATTA CCCATGGTCC TTCTCTGAGT CAGGTGTACC CCTACTACAT TAAACGGGTA
 TTCACCCTAT GAGATAGTGT ACAGCCGACC AACTGCACTT ATATCTCAGG TAAAAGGAAA
 TTTAAAGGAA ATTGGAGAAC TGACCCTAAG AAGACAAATG CAGGCATTAG GTGAGGTAAT
 ACAAGAAGTA CAAGGGTGGG TAAGAGAAAC AATACCTGTT AGCCTTACAG ATGCAATACA
 TCCCTTTAAA CCTGCTGACT CTGTGTGGGT TAAACGCTGG AATCCTACCA CCCTCGGGCC
 CTTATGGGAT GGCCCCCATA TTGTAATCAT GTCTACCCCT ACCACTGTTA AAGTTGCAAG
 TATTACACCT TGGATCCATC ACAGCCGACA AACCTGCAGC CTCAGTTCAA GACCAGTGGA
 CAAGTCAGCA AGATCCAGAT CATCCAACTC GACTGATCTT GCGGAGGAAC CAAGGCACAG
 CAGAAAAAGA TGACTGCCCT GCCCCAACCA CACCAGAGGC TGGTTGGTAA ATGCACTGAT
 GAAGCTTGAG GAAACGTCAA GCCCTGCTCT AGTCACACAA CAGGAAGCTG ACTAGTCTAC
 GCATGGCTGA AGCCTGAGGA AGTTGGTGCT AGATAAGTAA ATGTGGATTA AATTTGCAAG
 TGTAGTTATA CTATTGCTTA TACTGATTGT TTTGCTGTCA TGCTATCTTT GCAATTGCTA
 TCAAACTTGT TGCCCAGGAG GATGCCTGTG CATAGTGTAA ACTTGATCAC AGTAGTGACA
 ATAATGCTAA CAGGCACGGG AGGAAACCAA GATAATTGTC ATCATTATAT GATAGAAGCT
 TGGTTTGGTA AAGGTATAAC AAAAACCCTG TTATATCAAA CTTATTATTA GTGTACAGGA
 ATCCCCTGGG GACATGTGTT TATAATCAAA CCAGCTACTC TGTCTATGAC CCAAGTCATG
 GGCAACCTCA AGTATGTTAT GATCTAGGCC TCCTACCCTA CAACTTTTGG TTTGAAATTC
 AAATAGGGAA ACCTTTGTTA CCCACATATG CCAATCCTAA TAACGTTGGA ACTGGGAAAC
 TCATAAGCAA AACACGGGTA TTACCTTATT CACATAAAGA ATCAGTTTCT ATATATTTTG
 ATGCCTGTCA GGCTGCACAC CTCAGCAACC TAATCCAGGA GAAGTCTGCA AGAACTTAGG
 ACAAGAAAGA GTCAGCAGTA AGGCTGCTAA GATCATAATA GAAGAACCAG AAGAAGAATG
 TCCTGATTGT AACTTTCAA
 Y
 GGACCACACA TGAATTCAGC CAACACCTAT ATACAGGGGG AGTAGCTCTG CTTGCCAGCC
 AAAAAGCAAA GATTGGTTGT GTGACTAACA CATGCAACCC CCTTAATTTG ACCATATTAA
 AGCCAAACAT ACCTTTTTGG ACTAAAGGAC ATCAAGGAGA GCTAAGCTTT GATCAAGAAA
 GAGCAAACCT AGGTGTTTCA TTGGTCATTA TTAAAAAGAC TCAATGAGCT AAAGTTCAAG
 TCAGTCCAAT GTCACAGTTC AGATTTTTCA GATCCTTCAA TAAACATTTT AACCCCAAGG
 ATCCAAAAGT TCAGATTCCA CCAATGTCAG CCAAGAACCT ATTTACTCAG CTAGCTGAAA
 GTATTGCTAC TAATCTTTGA GTCACCTCAT GTTATGTATA TGAAAGTACC AGTATAAGTA
 ACCAATGGCC CTGGGAGGCT AGAAAACTAA TGCCACAAGA TAACTTCACC ATACTGGAAT
 TTGTTACAAG GTTCAATGTA TATCCAAGTG TCTGTCTATT AAAAACCCCT ATCATTGGAA
 GATACTGCAT AGCATGATAG GAAAAGACTT TCAGACTCCC GTAGGAGATA CAACCTGTTT
 AGATCAGCAA TATTTTGAAG AGTCTAAGAA CAAGACACAG TGGAGAAGCT TCATAGACAA
 TTCCTCTGTA TCAGATTTTA ACCCTCTCTC TCAGTTTCCA GCGCTGAATC AGTTGTGGTA
 TCAACTAGAC ACTACAAATG TTTGGAGAGC ACCATCAGGA CTATATTGGA TCTGTAAGAC
 AAAAGCCTAC CAACTATTGC CCGAGAAGTG GACTGGAGCC TGTGTGTTAG GGACAATAAG
 ACCATCCTTC CTCTTGCTCC CACCAAAACA AGGGAAGATT TAAGTTACCC AGTCTATAAT
 GAAGAAAGAA AAAGGACCAG AAGAAACATC TTTACTCAGA TAAGTACTGT AGAAAAGATA
 AACACAAACA TAAAGAAGGA CATTAAGATA GGTAGCTGGA AAGATAACAA ATGGCCTCCT
 GAAAGAATTA TCAAATGCTA TGGGCCAGCT AAGTGGGCCC AAGATGGATC ATGAGTCTAC
 CGCACCCCTA TTTACATGTG AAACCAAATT ATAAGATTGC AAAGCAGTAC TAGAGATCAT
 AGTCAATAAG ACAGCTCGAG CCGTGGATCT GTTAGCCATA CAAGCCACTC AAATGAGAGA
 CACTATATAC CAAAATAGGC TAGCATTAGA CTACCTCCTG GCCTCAGGAG GAGTTTGTGG
 CAAGCTTAAT TTAACCAACT GTTCCTCACA AATCAATGAT AATAGAAGAG CTGTTATGGA
 AATTACTGCC AGAATGCGGA GGTTGGCCCA TGTCCCAGTC CAGACTTGGT CCAGGTGGAG
 CCCAAACTCA CTTTTTGGAG GATGGTTCTC ATGGTTTGGA GGCTTTAAAA CTTTGATAAT
 TGGTTTTGTA GCTATAATTG GAGGATGTCT AATACTGCCT TGTCTTTTAC CTCTCCTCTT
 CAGAAGCATC CAGTCTACTA TTGAAGCAAT AGTGGACCGA AAAACTACCA CCAAAATGAT
 GGTGCTACAA AAATACCAAC CGATCCCCTG GGAAGAATAT GTGCCTACAC AGGAAGAGAT
 AAACGATTAT GGTGCTCTTT ATTAATCTAC ATTTATAGCG AGCACCAAAG GGGGAGATGA
 AGAAAGAATT CATGAATTTT ACAAGTATAA TCAAAGACAA GACATTTTTA CTTTTTCCTT
 CAAAAGCTAA GTGTAGTGTA GCAACCTCAC CCACC

  GeneView back to top
GeneView via analysis of contig annotation: LIPI lipase, member I
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_011512->NM_198996
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011512->NM_198996->NP_9453471156826reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2032283 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
21NW_927384.1137308652185plusCalt_assembly_1CeleraCeleraview1999
21NW_001838706.1294825865411plusCalt_assembly_8HuRefHuRefview1999
21NT_011512.10115682614416826plusCref_assemblyreferencereferenceview1999

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512
dbSNP Blast Analysis
GenBank HTGS Finished:
AL160451.2 AP001347.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss16136068HapMap-CEUEuropean 120IG 0.700 0.300 0.200 0.850 0.150
HapMap-HCBAsian 90IG 0.400 0.444 0.156 1.000 0.622 0.378
HapMap-JPTAsian 90IG 0.356 0.489 0.156 0.655 0.600 0.400
HapMap-YRISub-Saharan African 120IG 0.867 0.133 0.933 0.067
ss24225866AFD_EUR_PANELEuropean 48IG 0.792 0.167 0.042 0.251 0.875 0.125
AFD_AFR_PANELAfrican American 46IG 0.870 0.130 0.752 0.935 0.065
AFD_CHN_PANELAsian 48IG 0.250 0.625 0.125 0.200 0.562 0.438
ss2941205AfAmAfrican American 12IG 1.000 1.000
CaucasianEuropean 24IG 0.667 0.333 0.527 0.833 0.167
AsianAsian 12IG 0.167 0.667 0.167 0.439 0.500 0.500
CEPHEuropean 12IG 0.500 0.333 0.167 0.584 0.667 0.333
PDpanelGlobal 48IG 0.792 0.167 0.042 0.251 0.875 0.125
ss66098414HapMap-CEUEuropean 118GF 0.695 0.305 0.847 0.153
HapMap-HCBAsian 90GF 0.400 0.444 0.156 0.622 0.378
HapMap-JPTAsian 90GF 0.356 0.489 0.156 0.600 0.400
HapMap-YRISub-Saharan African 120GF 0.867 0.133 0.933 0.067

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.346+/-0.2313803072750

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .