NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs6682921                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterwith2hit
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0020/251 (TOPMED)
HGVS Names
  • CM000663.2:g.20245G>A
  • NC_000001.10:g.20245G>A
  • NC_000001.11:g.20245G>A
  • NR_024540.1:n.205-1879C>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 ss275679877 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6682921 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
ss9862376BCM_SSAHASNP|chr1.NT_077402.1_10108fwd/TA/Gcatgcagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatcttgtag06/28/0311/06/03116Genomicunknown
ss35254508SSAHASNP|TA-079.chr1_10108fwd/TA/Gcatgcagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatcttgtag03/11/05126Genomicunknown
ss81561183HGSV|Cor18555_SNV_20070510.chr1_10108fwd/TA/Gcatgcagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatcttgtag11/27/0711/30/07130Genomicunknown
ss95868665HUMANGENOME_JCVI|1104753393914rev/BC/Tctacaagattttgttagaagccgtcaaaatctgctgactcgagatgcactgtgctgcatg03/24/0807/01/08144Genomicunknown
ss275679877GMI|GMI_AK_SNP_37fwd/A/Gcatgcagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatcttgtag12/16/1012/16/10144Genomicunknown
ss647514775SSMP|1_20245fwd/TA/Gagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatct12/14/1202/09/15144Genomicunknown
ss1966667264GENOMED|rs6682921fwd/TA/Gagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatct02/16/1602/16/16147Genomicunknown
ss2750602395GNOMAD|rs6682921fwd/A/Gagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatct05/17/1705/17/17151Genomicunknown
ss2986141595SWEGEN|NC_000001.10:g.20245G>Afwd/A/Gagcacagtgcatctcgagtcagcagattttgacggcttctaacaaaatct05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6682921|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GAGCACCATC TCCTTCCAGT GAGGAAGCGG GACCACCACC CAGCGTGTGC TCCATCTTTT
 CTGGCTGGGG AGAGGCCTTC ATCTGCTGTA AAGGGTCCTC CAGCACAAGC TGTCTTAATT
 GACCCTAGTT CCCAGGGCAG CCTCGTTCTG CCTTGGGTGC TGACACGACC TTCGGTAGGT
 GCATAAGCTC TGCATTCGAG GTCCACAGGG GCAGTGGGAG GGAACTGAGA CTGGGGAGGG
 ACAAAGGCTG CTCTGTCCTG GTGCTCCCAC AAAGGAGAAG GGCTGATCAC TCAAAGTTGC
 GAACACCAAG CTCAACAATG AGCCCTGGAA AATTTCTGGA ATGGATTATT AAACAGAGAG
 TCTGTAAGCA CTTAGAAAAG GCCGCGGTGA GTCCCAGGGG CCAGCACTGC TCGAAATGTA
 CAGCATTTCT CTTTGTAACA GGATTATTAG CCTGCTGTGC CCGGGGAAAA CATGCAGCAC
 AGTGCATCTC GAGTCAGCAG
 R
 ATTTTGACGG CTTCTAACAA AATCTTGTAG ACAAGATGGA GCTATGGGGG TTGGAGGAGA
 GAACATATAG GAAAAATCAG AGCCAAATGA ACCACAGCCC CAAAGGGCAC AGTTGAACAA
 TGGACTGATT CCAGCCTTGC ACGGAGGGAT CTGGCAGAGT CCATCCAGTT CATTCAACAC
 CTGGTTAGAA AACTGGGGCC AGCACACAGG GGAAGGGTAA GCTGGTTTCA TGATCGAATC
 AAGGCTCAGA CAATTTTTAA AGGCCAGAGG GTAGACTGCA ATCACCAAGA TGAAATTTAC
 AAGGAACAAA TGTGAAGCCC AACATTTAGG TTTTAAAAAT CAAGCGTATA AATACAGAAG
 GTGGAGGGAA CTTGCTTTAG ACACAGTTCA GGTGAAGAAA GACCTGGAAA CTTCTGTTAA
 CTATAAGCTC AGTAGGGGCT AAAAGCATGT TAATCGGCAT AAAAAGGCAA TGAGATCTTA
 GGGCACACAG CTCCCCGCCC

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
HWPA
G
ss95868665J. Craig Venter 2IG1.00000000 0.500000000.50000000

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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN