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Reference SNP (refSNP) Cluster Report: rs77331792                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1945/24428 (TOPMED)
HGVS Names
  • CM000663.2:g.20144G>A
  • CM000663.2:g.20144G>T
  • NC_000001.10:g.20144G>A
  • NC_000001.11:g.20144G>A
  • NC_000001.11:g.20144G>T
  • NR_024540.1:n.205-1778C>A
  • NR_024540.1:n.205-1778C>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 ss252863949 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs77331792 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
ss131629865ENSEMBL|ENSSNP135fwd/TA/Gacttagaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagcatttct12/08/0810/14/09131Genomicunknown
ss252863949BL|SNP11_1_10007fwd/TA/Gacttagaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagcatttct08/18/1008/18/10147Genomicunknown
ss647514771SSMP|1_20144fwd/TA/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca12/14/1202/09/15147Genomicunknown
ss1425684530DDI|DDI_rs143346096fwd/TA/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca11/04/1411/04/14147Genomicunknown
ss1917958162WEILL_CORNELL_DGM|SNV:chr1:20144fwd/TA/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca10/16/1510/16/15147Genomicunknown
ss1966667263GENOMED|rs143346096fwd/TA/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca02/16/1602/16/16147Genomicunknown
ss2697372926GRF|rs143346096fwd/A/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca02/13/1702/13/17151Genomicunknown
ss2750602360GNOMAD|rs143346096fwd/A/G/Tgaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca05/17/1705/17/17151Genomicunknown
ss2986141580SWEGEN|NC_000001.10:g.20144G>Afwd/A/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca05/30/1705/30/17151Genomicunknown
ss3343271494CSHL|rs143346096fwd/A/Ggaaaaggccgcggtgagtcccagggccagcactgctcgaaatgtacagca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs77331792|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GCCTTGGGTG CTGACACGAC CTTCGGTAGG TGCATAAGCT CTGCATTCGA GGTCCACAGG
 GGCAGTGGGA GGGAACTGAG ACTGGGGAGG GACAAAGGCT GCTCTGTCCT GGTGCTCCCA
 CAAAGGAGAA GGGCTGATCA CTCAAAGTTG CGAACACCAA GCTCAACAAT GAGCCCTGGA
 AAATTTCTGG AATGGATTAT TAAACAGAGA GTCTGTAAGC ACTTAGAAAA GGCCGCGGTG
 AGTCCCAGGG
 D
 CCAGCACTGC TCGAAATGTA CAGCATTTCT CTTTGTAACA GGATTATTAG CCTGCTGTGC
 CCGGGGAAAA CATGCAGCAC AGTGCATCTC GAGTCAGCAG GATTTTGACG GCTTCTAACA
 AAATCTTGTA GACAAGATGG AGCTATGGGG GTTGGAGGAG AGAACATATA GGAAAAATCA
 GAGCCAAATG AACCACAGCC CCAAAGGGCA CAGTTGAACA ATGGACTGAT TCCAGCCTTG
 CACGGAGGGA

  NCBI Resource Links back to top
Submitter-Referenced
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
ss131629865ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-00000

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