NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs3748932                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.00002/2 (TOPMED)
HGVS Names
  • CM000664.2:g.100393544C>A
  • CM000664.2:g.100393544C>T
  • NC_000002.11:g.101010006C>A
  • NC_000002.11:g.101010006C>T
  • NC_000002.12:g.100393544C>A
  • NC_000002.12:g.100393544C>T
  • NG_028153.1:g.29125G>A
  • NG_028153.1:g.29125G>T
  • NM_004854.4:c.772G>A
  • NM_004854.4:c.772G>T
  • NP_004845.1:p.Asp258Asn
  • NP_004845.1:p.Asp258Tyr
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

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


  Submitter records for this RefSNP Cluster back to top
The submission ss68822533 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3748932 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
ss4934955YUSUKE|IMS-JST100725byFreqfwd/TA/Gaaccacagatggctagaccttcagtttgggaccacatcattcactgggtgacgtatgtag08/01/0211/22/03107Genomicunknown
ss68822533PERLEGEN|PGP04756364rev/BC/Tctacatacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctgtggtt01/30/0701/30/07127Genomicunknown
ss74855139ILLUMINA|ILMN_Human_1M_rs3748932fwd/TA/Gaaccacagatggctagaccttcagtttgggaccacatcattcactgggtgacgtatgtag08/28/0708/29/07129Genomicunknown
ss154265144ILLUMINA|Human610_Quadv1_B_rs3748932-128_B_R_1513901367rev/BC/Tctacatacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctgtggtt06/18/0906/20/09131Genomicunknown
ss159441974ILLUMINA|Human660W-Quad_v1_A_rs3748932-128_B_R_1513901367rev/BC/Tctacatacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctgtggtt07/06/0907/07/09131Genomicunknown
ss160635976ILLUMINA|HumanOmni1-Quad_v1-0_B_rs3748932-128_B_R_1513901367rev/BC/Tctacatacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctgtggtt08/04/0910/04/09131Genomicunknown
ss173622443ILLUMINA|Human1M-Duov3_B_rs3748932-128_B_R_1513901367rev/BC/Tctacatacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctgtggtt10/01/0910/04/09132Genomicunknown
ss480814036ILLUMINA|HumanOmni2.5-4v1_B_rs3748932-128_B_R_1777976790rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg01/30/1210/28/16137Genomicunknown
ss480829675ILLUMINA|HumanOmniExpress-12v1_C_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg01/30/1210/27/16137Genomicunknown
ss481758693ILLUMINA|HumanOmni1-Quad_v1-0_C_rs3748932-131_B_R_1865217238rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg01/30/1208/28/15146Genomicunknown
ss485201820ILLUMINA|HumanOmni2.5-4v1_D_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg01/30/1210/28/16137Genomicunknown
ss537187915ILLUMINA|HumanOmni5-4v1_B_rs3748932-131_B_R_1889936440rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg06/22/1208/28/15146Genomicunknown
ss778894407ILLUMINA|HumanOmni25Exome-8v1_A_rs3748932-131_B_R_1869436470rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/30/1307/09/15146Genomicunknown
ss783046902ILLUMINA|HumanOmni2.5-4v1_H_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/30/1307/28/15142Genomicunknown
ss784005688ILLUMINA|HumanOmniExpressExome-8v1_A_rs3748932-131_B_R_1889936440rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/31/1306/19/15146Genomicunknown
ss832304696ILLUMINA|HumanOmniExpress-12v1_H_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg09/17/1306/18/15144Genomicunknown
ss832953545ILLUMINA|Human660W-Quad_v1_C_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg09/18/1307/02/15142Genomicunknown
ss833544374ILLUMINA|Human660W-Quad_v1_H_rs3748932-131_B_R_1857475111rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg09/18/1307/02/15142Genomicunknown
ss834355574ILLUMINA|HumanOmni2.5-8v1_A_rs3748932-131_B_R_1869436470rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg09/18/1307/28/15146Genomicunknown
ss1752301408ILLUMINA|OmniExpressExome-8v1-1_B_rs3748932-131_B_R_2087478498rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/27/1506/09/15146Genomicunknown
ss1946047495ILLUMINA|HumanCoreExome-12v1-0_C_rs3748932-131_B_R_2087478498rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg10/29/1510/29/15147Genomicunknown
ss1958442880ILLUMINA|rs3748932-131_B_R_1889936440rev/BC/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg11/13/1511/13/15147Genomicunknown
ss2633648943ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs3748932-131_B_R_2131rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg02/02/1702/02/17151Genomicunknown
ss2633648944ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs3748932-131_B_R_20874784rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg02/02/1702/02/17151Genomicunknown
ss2710907486ILLUMINA|Consortium-OncoArray_15047405_A_rs3748932-131_B_R_2087478498rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg03/22/1703/22/17151Genomicunknown
ss2732874744GNOMAD|exomes_rs3748932rev/A/Ctacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/17/1705/17/17151Genomicunknown
ss2985180126AFFY|Axiom_PsorMich_Affx-17116311rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/24/1705/24/17151Genomicunknown
ss2985802148AFFY|Axiom_Smokesc1_Affx-17116311rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg05/24/1705/24/17151Genomicunknown
ss3021998067ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs3748932-138_B_R_2269196456rev/C/Ttacgtcacccagtgaatgatgtggtcccaaactgaaggtctagccatctg06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3748932|allelePos=65|totalLen=129|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GTTTGAAGAT TTCGTGCGCT ACCTCGGCGA TCCGAACCAC AGATGGCTAG
 ACCTTCAGTT TGGG
 D
 ACCACATCAT TCAC
 TGGGTGACGT ATGTAGAGCT CTGTGCTCCC TGTGAGATAA TGTACAGTGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022171.1
dbSNP Blast Analysis
UniGene Cluster ID
516370

  Population Diversity (Alleles in RefSNP orientation) Note: rs3748932 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
G/G
HWPA
G
ss4934955JBIC-allele 1502AF 0.002000000.99799997
ss68822533HapMap-CEUEuropean 118IG 1.00000000 1.00000000
HapMap-HCBAsian 86IG0.023255810.976744171.000000000.011627910.98837209
HapMap-JPTAsian 86IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 118IG 1.00000000 1.00000000
HAPMAP-CHBAsian 82IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.004+/-0.0450000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN