NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs1851939                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3817/47935 (TOPMED)
HGVS Names
  • CM000663.2:g.98993G>A
  • NC_000001.10:g.98993G>A
  • NC_000001.11:g.98993G>A
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 ss275679985 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1851939 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
ss2724216TSC-CSHL|TSC0791549fwd/TA/Gtgccactgtcaatagcctcagtagtgttaggttgcttttatttatttatttatttattta01/02/0110/10/0392Genomicunknown
ss131822474ENSEMBL|ENSSNP281053byFreqfwd/TA/Gtgccactgtcaatagcctcagtagtgttaggttgcttttatttatttatttatttattta12/08/0803/07/10131Genomicunknown
ss252863955BL|SNP17_1_88856fwd/TA/Gtgccactgtcaatagcctcagtagtgttaggttgcttttatttatttatttatttattta08/18/1008/18/10134Genomicunknown
ss275679985GMI|GMI_AK_SNP_145fwd/A/Gtgccactgtcaatagcctcagtagtgttaggttgcttttatttatttatttatttattta12/16/1012/16/10137Genomicunknown
ss283987248GMI|GMI_NA10851_SNP_14fwd/A/Gtgccactgtcaatagcctcagtagtgttaggttgcttttatttatttatttatttattta12/17/1012/17/10138Genomicunknown
ss1425684613DDI|DDI_rs1851939fwd/TA/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt11/04/1411/04/14144Genomicunknown
ss1917958572WEILL_CORNELL_DGM|SNV:chr1:98993fwd/TA/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt10/16/1510/16/15147Genomicunknown
ss2147483746USC_VALOUEV|NC_000001.10:g.98993G>Afwd/A/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt11/17/1611/17/16150Genomicunknown
ss2697373192GRF|rs1851939fwd/A/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt02/13/1702/13/17151Genomicunknown
ss2750607998GNOMAD|rs1851939fwd/A/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt05/17/1705/17/17151Genomicunknown
ss2986142741SWEGEN|NC_000001.10:g.98993G>Afwd/A/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt05/30/1705/30/17151Genomicunknown
ss3343271656CSHL|rs1851939fwd/A/Gctgtcaatagcctcagtagtgttaggttgcttttatttatttatttattt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1851939|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GCAGAGAAGA AAAGCCTCAA TAATTATTAT GACATGGCAT GTTAGGATAC CAAGTAAATT
 GCATTTGTAA AATGTGATTT TCTGTTGGTG TTCACTTCAG CTCTACTGAC ATTTGGTAAG
 TATTATTGAC TGACTGACTA ACTAATGTGG TCATTAGTCT TCATAAAGAA AGGCTCTCTA
 CAAAAACGGA GGGATGCCCT TTTTCTGGCA TTTAATACGT AAGAAATTGC CTCCAATAGA
 AACCAGAGTT GCCTGATTAC TATCAGCACA GGAGAAATGT ATTAATGTGC CTTTCTAGTA
 ACAGGTTTTT AGAAAGTCAA ATATAAACAA ATCTGTCTAT TTGTGTGTGT GCATGTGGTA
 GTGGGGAGGG AAGAAAAAAG GAGGGGGAGA GAAAGAGAAA TAAGAACCAA GTTTATTATA
 CTGTATTCAG GGGGAAAAAA TTTTCCCAAG GTCCTAACAG AAGAGCAAAG TGCCACTGTC
 AATAGCCTCA GTAGTGTTAG
 R
 GTTGCTTTTA TTTATTTATT TATTTATTTA TTTATTTATT TATTTATTTT TCCTTTTTTT
 TCTTTCTCTT TTTTTCTTCT TTTTTTTTTC TTTTCTTTCT TTTTTTTTTT TTTTTTTTTT
 TTTGGACAGA GTCTCACACT GTCACCTGGG CTGGAGTGCA TTGGTGCAAT CTCGACTCAC
 TGCAACTTCT GCCTCCCAGG TTCAAGTGAT TCTCCTGCCT CAGCCGCCCA AGTAGCTGGG
 ATTACAGGTG TCTGCCACCG TGCCTAGCTA ATTTTTTTGT ATTTTTAGTA GAGATGAGGT
 TTCACTATGT TGGCCAGGCT GGTCTCAAAC TCCTGACCTC ATGATCCACC CACGTTGGCC
 TCCCAAAGTG CTGGGATTAC AGGCGTGAGC CACCGCCCCT GGCCAGGATT GCTTTTACAG
 CCAGTCTTCA GGTGCCCACT GTAGGAACAA TGTCATTTAA CCCTCGGGAT TATTCTGTGC
 CAAATATGGA TAATGACTAA

  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
G/G
HWPA
G
ss131822474ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000
ENSEMBL_celera 4IG0.500000000.50000000 0.250000000.75000000
ss2724216ENSEMBL_Watson 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.375+/-0.2170000

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