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dbSNP
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Reference SNP (refSNP) Cluster Report: rs2821574                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbySubmitterwith2hit
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.00002/3 (TOPMED)
HGVS Names
  • CM000683.2:g.13015459A>G
  • CM000683.2:g.13015459A>T
  • NC_000021.8:g.14387780A>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 ss5409599 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2821574 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
ss2411554TSC-CSHL|TSC0460221rev/BA/Tctgctctggagcacagagaagagggcaggcccaacagtaagtgaggagaggccaagccca06/14/0110/10/03110Genomicunknown
ss3995631PERLEGEN|P00199480fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag09/26/0110/10/03100Genomicunknown
ss5169108TSC-CSHL|TSC0442706fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag09/19/0210/10/03110Genomicunknown
ss5409599TSC-CSHL|TSC1418785fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag09/20/0210/10/03110Genomicunknown
ss5443155TSC-CSHL|TSC1349532fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag09/20/0210/10/03110Genomicunknown
ss5974197SC_JCM|NT_011512.6_49651fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag01/10/0310/10/03111Genomicunknown
ss6652899WI_SSAHASNP|NT_011512.7_49651fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag02/12/0310/10/03111Genomicunknown
ss10985026BCM_SSAHASNP|chr21.NT_011512.8_49651fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag06/30/0310/10/03117Genomicunknown
ss13401127SC_SNP|NT_011512.8_49651fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag10/23/0310/31/03119Genomicunknown
ss14785334SC_SNP|NT_011512.9_49651fwd/TA/Ttgggcttggcctctcctcacttactgttgggcctgccctcttctctgtgctccagagcag11/12/0311/22/03119Genomicunknown
ss2969711629GNOMAD|rs2821574fwd/A/Tttggcctctcctcacttactgttgggcctgccctcttctctgtgctccag05/23/1705/23/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2821574|allelePos=491|totalLen=989|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 ATTGTAAATG CCATGCTAAA GTCTGGAACA TTTCTACAAA ATTCAGTTTA GCAAATATTT
 GTTAAGACTT CAGTCAAAGC CTTTTACAAC TGCACTGCTC TAGGTTTTGA GGACTCAAAA
 TAATCTCTGC TCACAAACCA GACATGCAGA CAAATAAGGT TCTATGTATT AAGGTCAATA
 ATAGAATTTT GCTGAAGACA AAATATTATC GCAGACACAA aaaaattagc cagacatggt
 ggcaggtgcc tgtaatccaa gctactcagg aggctaagga aggagaatag cttgaaccca
 ggaggcagag gttgcagtga gccaagatca catcactgca ctcatcttgg gcaacagagt
 gagacttcat ctcaaaaaaa aaaaaaaTCT TGATTCCTTT ATCCCCTGTG CTTCACAGCA
 TTCAGAGTCT TCCATATTTT CTGGGAGTTT CTTGGTTAGT TGGGCTTGGC CTCTCCTCAC
 TTACTGTTGG
 D
 GCCTGCCCTC TTCTCTGTGC TCCAGAGCAG ATCATGTTTT CTCTACTCAG TTCCCTCTAG
 TGAGGAGACT CATTCCACTT TCACCCCCAC CTTAGCACCA AGCACCATTA ATTCAAGACC
 ACTATGTGGA GGAGATAAGG GAGAATTACA TCCCACGAAG AGCAGCAAAa tgcataaaca
 tgcatatata tacacacata tgcatgtata tgcacatata cacacatata catatatatg
 catatataca tacacacata tatacacgta tacacatata cacacacaca catatataca
 tgcatataTT GCCACCACTA TCCTGAATCT CCTCATTTTT TCCCATCAGA AGGAATTTCT
 CCACCCCACC CTACCATTTT CTTGGAACTT CTAGTCTCTC TCACATTATT AATTCTACAC
 CTGGGGCTGC CTTGCCCCCT CTTGCTAACT GCCTGGTGGT AACTTGGCAC TCCACTTAGT
 TACTACTTAA CGTTACAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512.6
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbySubmitterwith2hit
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN