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Reference SNP (refSNP) Cluster Report: rs2232032                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0017/206 (ExAC)
T=0.0056/28 (1000 Genomes)
T=0.0062/81 (GO-ESP)
T=0.0058/734 (TOPMED)
HGVS Names
  • CM000676.2:g.74356940C>T
  • NC_000014.8:g.74823643C>T
  • NC_000014.9:g.74356940C>T
  • NM_018228.2:c.157C>T
  • NP_060698.2:p.Leu53Phe
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 ss169936670 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2232032 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
ss3179289GENAISSANCE|GEN972byFreqfwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc07/19/0109/05/1498Genomicunknown
ss69162116PERLEGEN|PGP04749064byFreqfwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc01/30/0708/14/07127Genomicunknown
ss74855126ILLUMINA|ILMN_Human_1M_rs2232032fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc08/28/0708/29/07129Genomicunknown
ss159729625SEATTLESEQ|C14orf115-73893396fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc07/10/0907/10/09131Genomicunknown
ss169936670COMPLETE_GENOMICS|NA19240_36_chr14_73893396fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc10/01/0910/01/09132Genomicunknown
ss173195650ILLUMINA|Human1M-Duov3_B_rs2232032-127_T_R_1513895324rev/TA/Ggggccaccgagtccacttccagcacctggagccagggcctccctcccggcaggtggggag10/01/0910/03/09132Genomicunknown
ss2115391631000GENOMES|YRI.trio.3.2010_1230133_chr14_73893396fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc03/29/1003/30/10132Genomicunknown
ss342391774NHLBI-ESP|ESP2500-chr14-74823643byFreqfwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc03/25/1109/05/14134Genomicunknown
ss4638993561000GENOMES|20101123_snps_10066586_chr14_74823643fwd/C/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc07/20/1107/20/11135Genomicunknown
ss4910724351000GENOMES|20110521_exome_580233_chr14_74823643fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc02/10/1202/22/12137Genomicunknown
ss491487299EXOME_CHIP|nonsyn_203525_chr_14_74823643fwd/BC/Tctccccacctgccgggagggaggccctggctccaggtgctggaagtggactcggtggccc03/05/1203/05/12137Genomicunknown
ss491690375CLINSEQ_SNP|SNV-chr14-73893396fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt03/06/1203/12/12137Genomicunknown
ss537057968ILLUMINA|HumanOmni5-4v1_B_rs2232032-131_T_R_1908337478fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt06/22/1208/29/15146Genomicunknown
ss564187723TISHKOFF|snp_chr14_74823643fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt11/22/1211/23/12138Genomicunknown
ss780703052ILLUMINA|HumanOmni25Exome-8v1_A_exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/30/1307/10/15146Genomicunknown
ss783377412ILLUMINA|HumanOmniExpressExome-8v1_A_exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/31/1306/18/15146Genomicunknown
ss1067547127JMKIDD_LAB|HGDP_exomes_chr14_74823643fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt07/09/1407/09/14142Genomicunknown
ss13516340281000GENOMES|PHASE3_V1_64889022fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt08/16/1408/16/14142Genomicunknown
ss1632076168EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_14_74823643_35919628fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt03/04/1503/04/15144Genomicunknown
ss1675070201EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_14_74823643_35919628fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt03/04/1503/04/15144Genomicunknown
ss1691556464EVA_EXAC|EVA_EXAC_6837176fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt03/04/1503/04/15144Genomicunknown
ss1752141929ILLUMINA|OmniExpressExome-8v1-1_B_exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/27/1506/09/15146Genomicunknown
ss1917890595ILLUMINA|HumanExome-12v1-1_B_exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt10/16/1510/16/15147Genomicunknown
ss1946381119ILLUMINA|HumanCoreExome-12v1-0_C_exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt10/29/1510/29/15147Genomicunknown
ss1959566646ILLUMINA|exm1114568-0_T_R_1922785530fwd/BC/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt11/13/1511/13/15147Genomicunknown
ss2203286712HUMAN_LONGEVITY|HLI-14-74356940-C-Tfwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt11/18/1611/18/16150Genomicunknown
ss2633171357ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2232032-131_T_R_19083374fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt02/02/1702/02/17151Genomicunknown
ss2740831439GNOMAD|exomes_rs2232032fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/17/1705/17/17151Genomicunknown
ss2749171931GNOMAD|coding_rs2232032fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/17/1705/17/17151Genomicunknown
ss2929495536GNOMAD|rs2232032fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt05/23/1705/23/17151Genomicunknown
ss3021583595ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1114568-0_T_R_1922785530fwd/C/Tcacctgccgggagggaggccctggctccaggtgctggaagtggactcggt06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2232032|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GGGAGAAAGT GCAGGAGTGG ACAGGGCACC TTTGCTAGTC ATCATCTGGG CACTTCGACC
 TGACTACTGC CCCTTTATCT TTTGCCCTGG CAGGATGACT TCTCGGAACC AGCTGGTGCA
 GAAGGTGCTG CAGGAGCTGC AGGAAGCAGT GGAGTGCGAA GGCCTGGAGG GTCTCATAGG
 TGCTTCCTTG GAGGCCAAGC AGGTCCTGTC TTCCTTCACT CTCCCCACCT GCCGGGAGGG
 AGGCCCTGGC
 Y
 TCCAGGTGCT GGAAGTGGAC TCGGTGGCCC TGAGCCTGTA TCCAGAAGAT GCTCCACGGA
 ACATGCTGCC GCTGGTGTGC AAGGGGGAGG GCAGCCTGCT GTTCGAGGCG GCCAGCATGC
 TGCTGTGGGG TGACGCAGGC CTCAGCCTGG AGCTGCGGGC CCGCACCGTG GTAGAGATGC
 TGCTGCACAG ACACTACTAC CTCCAGGGCA TGATCGACTC CAAAGTGATG CTGCAGGCCG
 TGCGCTACTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000014.7
dbSNP Blast Analysis
UniGene Cluster ID
196530

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1351634028EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.981099960.01890000
AMR 694AF 0.995700000.00430000
SAS 978AF 1.00000000
ss1691556464ExAc_Aggregated_Populations121412AF 0.998303290.00169670
ss169936670YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss3179289HapMap-CEUEuropean 222IG0.981981990.01801802 1.000000000.990991000.00900901
HapMap-JPTAsian 172IG0.988372090.01162791 1.000000000.994186040.00581395
HapMap-YRISub-Saharan African 220IG0.945454540.05454545 1.000000000.972727300.02727273
HAPMAP-ASW 98IG0.979591850.02040816 1.000000000.989795920.01020408
HAPMAP-LWK 180IG0.988888860.01111111 1.000000000.994444430.00555556
HAPMAP-MEX 100IG0.940000000.06000000 1.000000000.970000030.03000000
HAPMAP-MKK 286IG0.965034960.03496503 1.000000000.982517480.01748252
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss342391774ESP_Cohort_Populations 4550GF0.985934080.01406593 0.751830000.992967010.00703297
ss491690375CSAgilent 1199GF0.997999970.00200000 1.000000000.999000010.00100000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0410000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN