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Reference SNP (refSNP) Cluster Report: rs202153551                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:maternal
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.0001/12 (ExAC)
T=0.0001/15 (TOPMED)
HGVS Names
  • CM000685.2:g.18650466C>T
  • NC_000023.10:g.18668586C>T
  • NC_000023.11:g.18650466C>T
  • NG_008475.1:g.229862C>T
  • NG_008659.3:g.31983G>A
  • NM_000330.3:c.185-3134G>A
  • NM_001037343.1:c.2854C>T
  • NM_003159.2:c.2854C>T
  • NP_001032420.1:p.Arg952Ter
  • NP_003150.1:p.Arg952Ter
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 ss491575373 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs202153551 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
ss491575373EXOME_CHIP|stopgl_291599_chr_X_18668586fwd/BC/Taagaagcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccagtcctg03/05/1203/06/12137Genomicunknown
ss538296856CHWRETT|CDKL5: c.2854C>Tfwd/BC/Taagaagcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccagtcctg08/08/1208/08/12137Genomicunknown
ss662717005SSMP|X_18668586fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag12/14/1202/14/15138Genomicunknown
ss780765123ILLUMINA|HumanOmni25Exome-8v1_A_exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/30/1307/09/15146Genomicunknown
ss783444415ILLUMINA|HumanOmniExpressExome-8v1_A_exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/31/1306/19/15146Genomicunknown
ss1694468953EVA_EXAC|EXAC_0.3.X:g18668586c>tfwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag03/04/1503/04/15144Genomicunknown
ss1752802273ILLUMINA|OmniExpressExome-8v1-1_B_exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/27/1506/09/15146Genomicunknown
ss1917716311ILLUMINA|HumanExome-12v1-1_B_exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag10/16/1510/16/15147Genomicunknown
ss1945969527ILLUMINA|HumanCoreExome-12v1-0_C_exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag10/29/1510/29/15147Genomicunknown
ss1958178850ILLUMINA|exm1630345-0_T_R_1922048282fwd/BC/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag11/13/1511/13/15147Genomicunknown
ss2486497621TOPMED|X_18668586_C/Tfwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag11/20/1611/20/16150Genomicunknown
ss2745324045GNOMAD|exomes_rs202153551fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/17/1705/17/17151Genomicunknown
ss2746082406GNOMAD|coding_rs202153551fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/17/1705/17/17151Genomicunknown
ss2976937070GNOMAD|rs202153551fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/23/1705/23/17151Genomicunknown
ss2985481524AFFY|Axiom_PsorMich_Affx-52307276fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag05/24/1705/24/17151Genomicunknown
ss3022993174ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1630345-0_T_R_1922048282fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag06/28/1706/28/17151Genomicunknown
ss3606391785TOPMED|TOPMed_freeze_5?chrX:18,650,466fwd/C/Tgcctcacactccgtgcgtcccaaacgagcccttcatcgtccaatctccag10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs202153551|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CGTGTGTCCA GACGTGGATG CTGTACTTAC TCCCCAGGGA AGGTGACGCT CTCACTGTCA
 CCTTGGCTTC AGCTGGTGTC TGGGAGCCGA TGCCTGCCTC CCGGGCCCCA AGCTTCATTC
 CACTGCCCTC TGAATATTTT CCAGGAGAAT ACTTCTGCTG TGGTGACCCA AAGAAGCCTC
 ACACTCCGTG CGTCCCAAAC
 Y
 GAGCCCTTCA TCGTCCAATC TCCAGTCCTG CTCCCTATCC AGTACTCCAG GTCCGAGGCA
 CTTCCATGTG CCCGACACTC CAGGTCCGAG GCACTGATGC TTTCAGCTGC CCAACCCAGC
 AATCCGGTAA GCAGAGACTC TAGACCGGTG GGGCTCAGCC TGGGCTGTAC CTCGGAATTG
 CCCGAGGAGC TGTAGAAATG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1694468953ExAc_Aggregated_Populations121412AF 0.999876440.00012355

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0120000

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

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