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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs8024732          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_198141.2:c.131A>G
NP_937784.2:p.Gln44Arg
NT_010194.16:g.13361275A>G
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 ss43796713 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8024732 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
ss12310524WI_SSAHASNP|chr15.NT_010194.15_13360329byFreqfwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga07/04/0310/21/04116Genomicunknown
ss19312682CSHL-HAPMAP|CSHL-HuDD-200402.chr15.NT_010194.16_13361275fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga02/20/0403/04/04120Genomicunknown
ss19998585CSHL-HAPMAP|CSHL-HuFF-200402.chr15.NT_010194.16_13361275fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga02/21/0403/04/04120Genomicunknown
ss21241878SSAHASNP|WGSA-200403-chr15.chr15.NT_010194.16_13361275fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga03/19/0403/19/04121Genomicunknown
ss23365504PERLEGEN|afd3549429byFreqfwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga08/10/0409/13/04123Genomicunknown
ss28509310MGC_GENOME_DIFF|BC059406x37540936-A13361275Gfwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga08/25/0408/25/04126cDNAunknown
ss43796713ABI|hCV1865623byFreqfwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga07/18/0511/03/06126Genomicunknown
ss65729718ILLUMINA|Human1-rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga10/10/0610/10/06127Genomicunknown
ss66693298ILLUMINA|HumanHap300v1.1_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga11/09/0611/09/06127Genomicunknown
ss67861704ILLUMINA|HumanHap550v1.1_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga11/14/0611/14/06127Genomicunknown
ss68010400ILLUMINA|HumanHap650Yv1.0_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga11/14/0611/15/06127Genomicunknown
ss69174799PERLEGEN|PGP03549429byFreqfwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga01/30/0703/31/08127Genomicunknown
ss70965439ILLUMINA|HumanHap550v3.0__rs8024732rev/BC/Ttcatctgttgtgactgaatccaataatgccgataggtggacttcttggaaagccactgtt04/20/0703/31/08130Genomicunknown
ss71574996ILLUMINA|HumanHap650Yv3.0_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga04/23/0704/23/07127Genomicunknown
ss75599548ILLUMINA|ILMN_Human_1M_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga08/28/0708/29/07129Genomicunknown
ss78350128HGSV|Cor12878_SNV_20070510.chr15_40358010fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga10/17/0710/19/07129Genomicunknown
ss79278561ILLUMINA|HumanHap300v2.0_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga04/18/0711/18/07130Genomicunknown
ss83648932HGSV|Cor19240_SNV_20070510.chr15_40358010fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga11/30/0712/05/07130Genomicunknown
ss84771565KRIBB_YJKIM|KHS805080fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga12/04/0712/07/07130Genomicunknown
ss90137022BCMHGSC_JDW|JWB-0847803fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga02/26/0802/29/08129Genomicunknown
ss96753849HUMANGENOME_JCVI|1103645596007fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga03/27/0803/27/08130Genomicunknown
ss106424851BGI|BGI_rs8024732fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga09/15/0806/18/09130Genomicunknown
ss1087691821000GENOMES|CEU.trio.12.15.2008_3152546_chr15_40358010fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga12/15/0812/16/08130Genomicunknown
ss1140866831000GENOMES|NA19240_2008_12_16_2828284_chr15_40358010fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga12/18/0812/18/08130Genomicunknown
ss118203919ILLUMINA-UK|NA18507_000026161_NCBI36.1_chr15_40358010fwd/TA/Gaacagtggctttccaagaagtccacctatcggcattattggattcagtcacaacagatga01/20/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8024732|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CCATCTCAAG AAAGATAAGA TGTCATCCTT TGAGCAACGT TATAATAATC AATTGTATTA
 GTATTCTTAC TAATACTCAT CTTATTAGCA TTCTAATAAT AAAGTTCCTG ATTAGCACTT
 TATTATAGTA CTAATACTGT TTGTGCCCTG AAATTCACTG AATATCATAG TGAATTTTAA
 TGACTTCCAC ATGATAATAT AGTCTTTTGG ATACTGACAA TCACAAATAA TTATCAAGCA
 TCTGCATACT CCGTATCTAT AGGCGTCAGA AACAGTGGCT TTCCAAGAAG TCCACCTATC
 R
 GGCATTATTG GATTCAGTCA CAACAGATGA AGACAGCACC AGGTTCCAAA TCATCAATGA
 AGCAAGTAAG GTGAGATGGA AGTATTTTCT ACAGAGAATA ATTTGTTTCT GTATTTATTG
 GGCCTGAATG AAGTAAATTA AAGCTATGTA TGCTTCAAAA ATAAACCTCG TTAGAAAAGG
 AATATCAGCC TTTTAGTGAT TAGTGGCTCA CGCCTGTAAT CCCAGCACTC TGGGAGGCAG
 AAGTGGGCAG ATTGCTCGAG CCCAGGAGTT CGAGACCAGC CTGGGTAACA TGGCGAAAAC

  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_010194 ABBA01038379 BC059406
dbSNP Blast Analysis
UniGene Cluster ID
143261

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss12310524 CHMJ Asian 74 IG 0.149 0.851
ss23365504 AFD_EUR_PANEL European 48 IG 0.208 0.792 0.584 0.104 0.896
AFD_AFR_PANEL African American 46 IG 0.217 0.565 0.217 0.584 0.500 0.500
AFD_CHN_PANEL Asian 48 IG 0.042 0.208 0.750 0.439 0.146 0.854
ss43796713 HapMap-CEU European 120 IG 0.017 0.167 0.817 0.584 0.100 0.900
HapMap-HCB Asian 90 IG 0.289 0.711 0.273 0.144 0.856
HapMap-JPT Asian 90 IG 0.200 0.800 0.479 0.100 0.900
HapMap-YRI Sub-Saharan African 120 IG 0.467 0.433 0.100 1.000 0.683 0.317
AoD_African_American 90 AF 0.510 0.490
AoD_Caucasian 92 AF 0.130 0.870
AoD_Chinese 90 AF 0.150 0.850
AoD_Japanese 90 AF 0.140 0.860
ss69174799 HapMap-CEU European 120 GF 0.183 0.817 0.092 0.908
HapMap-HCB Asian 90 GF 0.289 0.711 0.144 0.856
HapMap-JPT Asian 90 GF 0.200 0.800 0.100 0.900
HapMap-YRI Sub-Saharan African 120 GF 0.467 0.433 0.100 0.683 0.317
Concordant Genotype Total Sample A/A A/G G/G
ss23365504 71 6 23 42
ss43796713 1206 198 418 565
ss69174799 269 43 77 149
ss96753849 1 1
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs8024732 1264 211 443 607
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
548 ss43796713 A/A CSHL-HAPMAP HapMap-CEU NA12763 CEPH1447.12 r27_ch15_CEU_illumina:human_1m_beadchip
548 ss69174799 A/G CSHL-HAPMAP HapMap-CEU NA12763 CEPH1447.12 chr15-HapMap-CEU
Genotype data submitted for1279 samples from1264 individualsIndividual with multiple genotypes submission:276

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .