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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2015632          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NT_022184.14:g.31853802C>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 ss9937532 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2015632 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
ss69066TSC-CSHL|TSC0058447fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg09/06/0010/10/03108Genomicunknown
ss2668998TSC-CSHL|TSC0006100byFreqfwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg01/03/0104/07/0492Genomicunknown
ss3655605SC_JCM|AC018713.4_65943fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg09/24/0110/10/03100Genomicunknown
ss5522088TSC-CSHL|TSC0684731rev/TA/Gccaagggtgtctgggaaagagctactgactctgagctctgaaacagccacctgaactgca09/21/0210/10/03108Genomicunknown
ss5995593SC_JCM|NT_026239.7_3795198fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg01/10/0310/10/03111Genomicunknown
ss9937532BCM_SSAHASNP|chr2.NT_022184.12_31853801byFreqfwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg06/27/0304/07/04116Genomicunknown
ss17657336CSHL-HAPMAP|CSHL-HuCC-200402.chr2.NT_022184.13_31853801fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg02/19/0403/04/04120Genomicunknown
ss21557955SSAHASNP|WGSA-200403-chr2.chr2.NT_022184.13_31853801fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg03/20/0403/20/04121Genomicunknown
ss23221902PERLEGEN|afd1262433byFreqfwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg08/10/0409/13/04123Genomicunknown
ss44363433ABI|hCV1332430byFreqfwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg07/18/0511/03/06126Genomicunknown
ss68371349CSHL-HAPMAP|perlegen:assay:24709.1262433:1byFreqfwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg01/11/0701/16/07127NAunknown
ss78878806HGSV|Cor18507_SNV_20070510.chr2_52949520fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg10/19/0710/21/07129Genomicunknown
ss91164034BCMHGSC_JDW|JWB-1242353fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg02/26/0803/01/08129Genomicunknown
ss96397472HUMANGENOME_JCVI|1103658100305fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg03/26/0803/26/08130Genomicunknown
ss106089628BGI|BGI_rs2015632fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg09/13/0806/17/09130Genomicunknown
ss1095202191000GENOMES|CEU.trio.12.15.2008_380141_chr2_52891373fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg12/15/0812/16/08130Genomicunknown
ss117709476ILLUMINA-UK|NA18507_000079178_NCBI36.1_chr2_52891373fwd/BC/Ttgcagttcaggtggctgtttcagagctcagagtcagtagctctttcccagacacccttgg01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2015632|allelePos=382|totalLen=7425|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TAAAAAGAGT TCTCATTTTT GACTGCATGA AATCTGTATA AAGTAAGTCA CATCAATGTC
 TGTCTGCCCA AACCCCCTTT TAAGGAAGTT CTTGCTCAAG GATTCACATA TTCCAAGGAA
 AGTCAACCTG TATGCTGTTC TGTTATCTGT TCTTccagtt atcaattgta ttgtctacca
 cttccaagtc cattcttcat tgccagatct gcaataacag agatggaccc tgtaaatatc
 cttggtcaac tgtcacgttg ttaagtgctg tcattagagg gcagtagata aacagtacaa
 aaagaaaggg tttctcttct tggatctgag ctgttCCTCT TGCTAAGTTC CTGCAGTTCA
 GGTGGCTGTT TCAGAGCTCA G
 Y
 AGTCAGTAGC TCTTTCCCAG ACACCCTTGG AGACGAGGCA CATTCCTATG AACGCTTCTC
 TGAGAGACTG TTGGGAGGCC TTACAGCAAG TTATAAAAAC CGAAACTCCC AGTAGGCAAT
 tttccttgat gtcccaaaga gcagaattta caaaagtcct gctacaacat ctcagtaact
 tatctaccat cctttatcca tagttgttcc ctctccagac aggtctggat ctgagcccgg
 gatgggggag agctttaaca ttctgttcct tccttggtca ccagatctaa ccccagagct
 aaagcctact ctatatgtgc cacttcttta ctctttagaa ttctccctct tcttttctta
 ctaccaaatc caatcacgtg tcataattaa taATACttta aaaatatgta ttcagatata
 aatcacatac attcatcaag accaacttaa agggtacaat tcaatagttc tttagtatat
 tcacaagatt ttgcgacaat gacaaacatc taattccaaa acactttcac agtccaaaaa
 gaaatcctac acatgttaag cagccacacc ccattgtttc acctaccaac accttgcaac
 cattaatcta ctttttatct gtggatttct ttctctatgc ctattctgaa ggtttcatat
 aagtcaactc agacaatagg tagccttttg tgcctccttt cacatagcat agttttcaag
 gtacatccac gttttagcat gtggtagtac tttctttttg tgtgtggctg agtaatattc
 tattctgtga atataccaca tagtgtttta tcatcagttg atgaacattt gagttgtgtc
 tgctatttga ctgttacaaa taagactaca aagattcagg tacaagtttt tgtgtgaatg
 tgtattttta attctcttgg ttatatacct agaagtataa ttgctggctt atatggtaac
 tcaatgttta acatttaaag gaaagaccaa actgatttcc acatggctgt gccattttac
 atttatacat aacgccatgt atgaggatta caatttctct acatttttga caaGGttgag
 gaagtttcta taatttctag tttgttaagt gtttttttaa ctaaaaaaaa aatagaggtg
 ttgtattttg tcaaatgcat tttttcaatt agccaggtca tgtgcccttc ccctcctctc
 tcttaatatg atgtgtcaaa ttaattaatt tgtatatgtt gaaaaaatct gggattccta
 ggaaaaatcc cacttgatca tggtgtataa ttccttcata tgccgatgaa ttcagttcat
 ttgtcttttg ctgtgatttt tgcaaatata ttctcaagtt atattgatct gtagttttat
 tttctgttgg atctttaaat gtttggtagg attcactggt gaaatcatcc agtcctgggt
 tttcgatgtt gttggcagtt tcttattact aattcaatct cttgataaac ctgttgagtt
 tttctctctc ttcttcattc ggttttgata gtctgtgtct ttccaagaat ttgcccattt
 catcgacatt acctaatttg ttagcataca gcggtttgca gttttagaat ccttttcatt
 tttatagagc taatagtaat gtcccttttt tattcctgat tttagtaatg cgaattgtct
 aatttttcta ggtcaatctt gctaaaaatt tGATTTGGTT GTTTGCaaac aacttctgat
 ttcattgatt tttctctatt gtcttttgct cttctcttca attcatttat gtgctaatct
 ttgttacttc tttccttagg ttcgctttgg gcttaattta atttggtatt tcaaatttct
 taaaatgaaa gttagttatt aatttgaaac cttctctttg ggtgtctaga gctataaatt
 tcccttgagt actgctttgg gtgcatccta tagttttcca taggttgctt ttacttctat
 aagtctcaaa atattttcca ctttcctctg tgatttatta tttgactcat tggttattta
 ggagtatgtt gtttacattt aacatatttg tggcttttta aattttcctc ttattttcag
 ttttaatcca tcgcgatcag ataattactt tgtatggttt caattactat agatatattg
 aacctttttt gatggcctat tctagagaat gtttcacatg caactcaaga aaattctata
 ttcggccatt ttgagaatat catttgtaga tatgttttac atatagtttg tttacagtgc
 tttttatgtc ttctgatttc ttgctgatat tctcagtagt tagttgtttg agccattatt
 gaaagtagca tatataattt tccaattata gttactgaat tgtctattgt cccttcaatt
 ttacgttttt tgtcatatat ttaagaactc tttgttaggt aaaaacatgt ttacaaattt
 tatatcttct taagttgatc ttttcattgt aataaaatgt ccatctttgt atttagtaac
 attttttgtc ttaaagtcta ttttatcgga tattactgaa gctatctcaa gcactctttt
 tatgctattt gtatggtctg tctttttcta tttattttga acctatttgt gtcttttgtt
 ttttgagaca gagtctcaaa aaaggttttt tctaagtctg tgaaaaatga gactggtagt
 ttgataggaa tagcattaaa tctgtcgatt actttggaaa gtatgtccat ttcaatgtta
 ttgattcttc caatcaatga gcattaaatg gttttgcatt tgtttgtgtc atctgatttg
 ttttagcatt gttagagtac tccttgtagg atctttcacc tccttggtta actgtattcc
 tagatatttt agtttttgtt tccatggcta ttaaaaatgt gattccattc ttgttttggc
 tctcagcttg aatccttttg gtatacagaa atgctatgga tttttgtaca ttggtttttg
 taccttaaaa acttacggaa aatttttatc aattctagga tctttttgtt ggagtttcta
 gggttttctg agtaaagcgt catattgtta gtgaagagag ataatttgac ttccttttgt
 cctatttgga tgacttttat ttctttctct ggactgattt cccttgctag gatatccagt
 actgtgttga acgggactgg tgggagtggg catacttgtc ctgttcctgt ccttgagggg
 aatgcttcta gcttttgccc attcagtatg atgttttctg tgggtttgtc ctagatcgct
 cttattattt tgaagtatgt tcctttgaag cctaatttgt tgagggtttt tatcatgaag
 agatgatgga tttcactgaa agccttttct gtgtctattg agatgatcat atggtttctg
 tttttaattc tgtttgtgtg gtgaatcaca tttattgatt tgcatatgtt gaaccaactt
 cgcatcccag aaataaagcc tagttgattg ttgtgaatga actttttgat gtgttgcagg
 atttggttcg ctaatatttt gttgagaatt ttcgtgtcta tgttcatcaa ggatattggc
 ctgtagtttt ctttgtttgt ctttgccaaa tttcggtgtt aaggtgatgc tggcttcata
 gaataagtta gaaaggagtt tgtcctcctc gatttttttt cagaaaagtt ttaatagaac
 tgataatagc tcttctttgt atgtctggta gaattaagct gttaatccat ttggtccagg
 gccttttctg ttgtttggat ttatattact tattcaattt TGGAACTcaa tacttgagaa
 tatagttgca aaaatcacag caaaagacaa gtgaactgaa ttcatcaaca tatgaaggaa
 ttatatacca tgctcaagta ggaGTCACTG GAGTCACTGC TGATTCCtag gagtcattgc
 tggagggcta gtgtaatcct tagatggcat cacaacattc agatttttca tggtgccaga
 ttctcgtgct gatttattct catctggaga tggtggcatt cctaattttg tacatatatt
 aatgaagata gaattgtttt ttctttcact ttcctcactc cctaggggat gttactgtag
 agattgttga gtagggtttt tttgacttta tttctatatc cccgtgtaat tctgttggca
 ggttctatat tgggctgtgt ggtttgatct acaggcctgt agatggtact tataggtaag
 agacagctat agccaatatg gatggtcata tacttgatcc ttgcttactg gacgaagctc
 tctgttgcat caagtaatgg gcttatccat ggagtacaca gtggtttgag gtttctgctc
 atcccagggt ggggcaagat gggcaggtct ggaccaggca gtcctgctta cacatccccc
 aatggcaagt acaagcacca gaatggaggg ggacacagta ggtagcaacc aagtgcccca
 gaggtgtgtt taggcatgga gctgaagagc accttggccc caagctctct gcatgttggt
 ggggacgcta acctcctact ccagaaaagt gtgtgctcca gatgcctgga aatctgcata
 agtgtggagt gtagagggcc ctactacact acaatctatt cagagcaagg gtggggtgat
 tcagctggtt atccaggtga acaggtgctc cagatgcctg gagatcttcc tgagcataga
 gtggagagaa ccctgcttca ccacacctct gcacaggaag gatgggtggc tcaggccatc
 caggtgagta ggagctttga ctgcctagaa atctgcctgg aagtggaatg tagagggcct
 cactgtacca tgatctagag agcatatatt tgaatcatgc tttttattcc ttctactaat
 atctgccctt taatttgaaa tttaagccat atatatataa tgtaattagt tgtaaggtag
 gctctacacc tactatattg ctatttgttt tctgcagtta ttatggattt ttgttgtcac
 ctcttcctcc attattgtcc tattttatgt tagatagata ttttctattg taacacttta
 atattcttat ttaatttact tttttttaag ttttttagtt gttgtcttag ggattataat
 taacaactta atttacagta atctaattca ggttaatacc aacttaattg caataacata
 aaaatgtatc tcctctatag ctccattttc tctctccttt agagtgttat cacaaattat
 attctatgac gtgcccatta acaaagatta ataattgatt tatgtaggtg tcttttaaat
 cagataaaaa aatttaaaaa caaaaaatat atttatactg ttttatattt acttaagaag
 ctatttttgc tggtgccatt taattctttg tgtgaattta aattactttc tagtgtcctt
 tcatttcagc ttgatgtact ccttttggct ttctttcgga gcaggtctgc aagcaataga
 ctatctcaag ttttttgttt gttgtttttt aaatctggga atatcttaat ttcttcttca
 tttttgaaga ataggttttt tttatttgaa atttttagtt gacaaatttt tggtttatta
 gcactgtaaa tattgtatcc cactgccatt ttctgcctgc gttgttctgg tgagtaatca
 gctgttaatc ttattgatca taccttgaat gagattagtt ctttctctct tgctgctttc
 aacattgtct gtctcttttt ggtagtttca ctgtagcgag gctaggtata gttcccttga
 atttgtccta taaatgagct taaaactttc aaaatctgat ttttaagaaa gatactaatc
 tacattggct attatatctc aaatattatt tttgttcctt tttctctctt tttttctaga
 actcccatta tgcataaggt ggtacatttg atggtatccc acagctcctg aagctctgtt
 tatttttctt catttatttt ttctttagat tctcagacta gatcatcctg atagaccaat
 cttcaaagtc actgattctt ttttctctta aattctgctc ttcatcccct ccagtgaatt
 tttatttcat ttattgtagt tttatcttca gaatttatat ttgattcatt tttataaatt
 atgtctttat tgagactatt catttggtga gacattgttc tcttactttg cttcagaaca
 tggttttgag aatatgattt catttaactt ttaaatatat tttatgtagc tgatttaaag
 cacaataagt cctgtatctc agccttatca gggacagttt ctattttttt ttttttcctg
 agcgttggac attttttaaa aaaatttctt tgcatgtcct gtatttttta ttgtaattag
 atttggaatt ttgttacaca cacaaaaaca ttttaaatat tctaaaatgt ggcaactctg
 gaaatcaagt ctgctcctct taagagttta ctgttgttgc tccttgttgt agtagttgtt
 tgtttactga tttctctaaa ctactaattc tataaattat ttattctttg gcatatgtgg
 tcattgaagt ctctaaatgg ttatttagga atcatctaaa taataagtag acagaaattt
 ccttaattct tgcaatcaat atggagcatg ccttgaacac tcagcctgat ggtttacaac
 tctgccttag ctttcactta ctgcttgggc agagtaggca ggtcattctg aagtgagagc
 ctaagggtct tctcaggtct ttcatgcaca tatccaaagg cctacacatt cactcatgta
 cctagattct caagaatatg acagaacttt taaaaataaa caccgcctgg tgcaaccctt
 ttatgatttt ccagaattct gaaaaaaatc tccaacaact ccttaaggtt ttttttttaa
 tctatgtagg gttaaagttt caacagttct ttctccacta ttttcactga catcaATCCA
 TAGTTAACAA TTCTTTATTT TAA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_026239.7 ABBA01075230 AC019196
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss23221902 AFD_EUR_PANEL European 48 IG 0.333 0.667 0.343 0.167 0.833
AFD_AFR_PANEL African American 46 IG 0.130 0.435 0.435 1.000 0.348 0.652
AFD_CHN_PANEL Asian 48 IG 0.042 0.542 0.417 0.251 0.312 0.688
ss2668998 TSC_42_AA 82 AF 0.440 0.560
TSC_42_C 84 AF 0.250 0.750
TSC_42_A 82 AF 0.260 0.740
ss44363433 AoD_Chinese 90 AF 0.390 0.610
AoD_Japanese 90 AF 0.180 0.820
ss9937532 HapMap-CEU European 120 IG 0.017 0.183 0.800 0.752 0.108 0.892
HapMap-HCB Asian 90 IG 0.044 0.311 0.644 1.000 0.200 0.800
HapMap-JPT Asian 90 IG 0.044 0.356 0.600 1.000 0.222 0.778
HapMap-YRI Sub-Saharan African 120 IG 0.317 0.600 0.083 0.050 0.617 0.383

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.413+/-0.189 582 459 15 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: ILLUMINA, PERLEGEN
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .