NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs2531228                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4097/51450 (TOPMED)
HGVS Names
  • CM000663.2:g.54043C>T
  • NC_000001.10:g.54043C>T
  • NC_000001.11:g.54043C>T
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 ss3548490 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2531228 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
ss3548490SC_JCM|AC005603.1_11669fwd/BC/Tttctaaaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatgtgtag09/24/0110/10/03100Genomicunknown
ss5883567SC_JCM|NT_004350.12_255655fwd/BC/Tttctaaaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatgtgtag01/10/0310/10/03111Genomicunknown
ss22989578BCM_SSAHASNP|BCM_HTWD_SNPS_200403.chr1.NT_077402.1_43906fwd/BC/Tttctaaaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatgtgtag03/22/0403/22/04124Genomicunknown
ss35461903SSAHASNP|TA-079.chr1_43906fwd/BC/Tttctaaaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatgtgtag03/11/05126Genomicunknown
ss144106983ENSEMBL|ENSSNP8842787fwd/BC/Tttctaaaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatgtgtag12/08/0810/20/09131Genomicunknown
ss1793705018HAMMER_LAB|Hsieh_6fwd/BC/Taaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatg07/15/1507/15/15146Genomicunknown
ss2750603534GNOMAD|rs2531228fwd/C/Taaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatg05/17/1705/17/17151Genomicunknown
ss2986141870SWEGEN|NC_000001.10:g.54043C>Tfwd/C/Taaaatgagaacattccaaaagtcaacatccaagtttattctaaatagatg05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2531228|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AGCCCTGAAC TGAGATTTGA CTTTACCTTG AGCTTTGTCA GTTTACGATG CTATTTCAGT
 TTTGTGCTCA GATTTGAGTG ATTGCAGGAA GAGAATAAAT TTCTTTAATG CTGTCAAGAC
 TTTAAATAGA TACAGACAGA GCATTTTCAC TTTTTCCTAC ATCTCTATTA TTCTAAAAAT
 GAGAACATTC CAAAAGTCAA
 Y
 CATCCAAGTT TATTCTAAAT AGATGTGTAG AAATAACAGT TGTTTCACAG GAGACTAATC
 GCCCAAGGAT ATGTGTTTAG AGGTACTGGT TTCTTAAATA AGGTTTTCTA GTCAGGCAAA
 AGATTCCCTG GAGCTTATGC ATCTGTGGTT GATATTTTGG GATAAGAATA AAGCTAGACA
 TGGTGAGGCA TATTCAATTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077402 AC005604 AC073186
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceT/T
HWPT
ss144106983ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0000

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