NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs200279319                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0002/22 (TOPMED)
HGVS Names
  • CM000663.2:g.10231C>A
  • NC_000001.10:g.10231C>A
  • NC_000001.11:g.10231C>A
  • NR_046018.2:n.-1643C>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 ss275679843 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs200279319 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
ss275679843GMI|GMI_AK_SNP_3fwd/A/Cccctaaccctaaccctaaccctaaccctaaccctaaccctaaccctaaaccctaaaccct12/16/1012/16/10137Genomicunknown
ss2697372854GRF|rs200279319fwd/A/Caccctaaccctaaccctaaccctaaccctaaccctaaccctaaaccctaa02/13/1702/13/17151Genomicunknown
ss2750600849GNOMAD|rs200279319fwd/A/Caccctaaccctaaccctaaccctaaccctaaccctaaccctaaaccctaa05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs200279319|allelePos=231|totalLen=731|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 TAACCCTAAC CCTAACCCTA ACCCTAACCC TAACCCTAAC CCTAACCCTA ACCCTAACCC
 TAACCCTAAC CCTAACCCTA ACCCTAACCC TAACCCTAAC CCTAACCCAA CCCTAACCCT
 AACCCTAACC CTAACCCTAA CCCTAACCCC TAACCCTAAC CCTAACCCTA ACCCTAACCT
 AACCCTAACC CTAACCCTAA CCCTAACCCT AACCCTAACC CTAACCCTAA
 M
 CCCTAACCCT AACCCTAAAC CCTAAACCCT AACCCTAACC CTAACCCTAA CCCTAACCCC
 AACCCCAACC CCAACCCCAA CCCCAACCCC AACCCTAACC CCTAACCCTA ACCCTAACCC
 TACCCTAACC CTAACCCTAA CCCTAACCCT AACCCTAACC CCTAACCCCT AACCCTAACC
 CTAACCCTAA CCCTAACCCT AACCCTAACC CCTAACCCTA ACCCTAACCC TAACCCTCGC
 GGTACCCTCA GCCGGCCCGC CCGCCCGGGT CTGACCTGAG GAGAACTGTG CTCCGCCTTC
 AGAGTACCAC CGAAATCTGT GCAGAGGACA ACGCAGCTCC GCCCTCGCGG TGCTCTCCGG
 GTCTGTGCTG AGGAGAACGC AACTCCGCCG GCGCAGGCGC AGAGAGGCGC GCCGCGCCGG
 CGCAGGCGCA GACACATGCT AGCGCGTCGG GGTGGAGGCG TGGCGCAGGC GCAGAGAGGC
 GCGCCGCGCC GGCGCAGGCG

  NCBI Resource Links back to top
Submitter-Referenced
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
UNKNOWNUNKNOWNUNKNOWN