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Reference SNP (refSNP) Cluster Report: rs312262805                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/144
Map to Genome Build:107/Weight
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000023.10:g.13764603G>A
  • NC_000023.10:g.13764603G>T
  • NC_000023.11:g.13746484G>A
  • NC_000023.11:g.13746484G>T
  • NG_008872.1:g.16772G>A
  • NG_008872.1:g.16772G>T
  • NM_003611.2:c.654+29G>A
  • NM_003611.2:c.654+29G>T
  • XM_005274599.1:c.675+29G>A
  • XM_005274599.1:c.675+29G>T
  • XM_005274599.2:c.675+29G>A
  • XM_005274599.2:c.675+29G>T
  • XM_005274600.1:c.675+29G>A
  • XM_005274600.1:c.675+29G>T
  • XM_005274601.1:c.654+29G>A
  • XM_005274601.1:c.654+29G>T
  • XM_005274602.1:c.675+29G>A
  • XM_005274602.1:c.675+29G>T
  • XM_005274602.2:c.675+29G>A
  • XM_005274602.2:c.675+29G>T
  • XM_005274603.1:c.675+29G>A
  • XM_005274603.1:c.675+29G>T
  • XM_005274603.2:c.675+29G>A
  • XM_005274603.2:c.675+29G>T
  • XM_005274604.1:c.654+29G>A
  • XM_005274604.1:c.654+29G>T
  • XM_005274604.2:c.654+29G>A
  • XM_005274604.2:c.654+29G>T
  • XM_005274605.1:c.654+29G>A
  • XM_005274605.1:c.654+29G>T
  • XM_005274606.1:c.510+29G>A
  • XM_005274606.1:c.510+29G>T
  • XM_005274606.2:c.510+29G>A
  • XM_005274606.2:c.510+29G>T
  • XM_005274607.1:c.234+29G>A
  • XM_005274607.1:c.234+29G>T
  • XM_005274607.3:c.234+29G>A
  • XM_005274607.3:c.234+29G>T
  • XM_005274608.1:c.234+29G>A
  • XM_005274608.1:c.234+29G>T
  • XM_005274609.1:c.-1286+29G>A
  • XM_005274609.1:c.-1286+29G>T
  • XM_011545591.1:c.675+29G>A
  • XM_011545591.1:c.675+29G>T
  • XM_011545592.1:c.462+29G>A
  • XM_011545592.1:c.462+29G>T
  • XM_011545593.1:c.675+29G>A
  • XM_011545593.1:c.675+29G>T
  • XM_011545594.1:c.333+29G>A
  • XM_011545594.1:c.333+29G>T
  • XM_011545595.1:c.333+29G>A
  • XM_011545595.1:c.333+29G>T
  • XM_011545596.1:c.675+29G>A
  • XM_011545596.1:c.675+29G>T
  • XM_011545597.1:c.234+29G>A
  • XM_011545597.1:c.234+29G>T
  • XR_247288.1:n.1007+29G>A
  • XR_247288.1:n.1007+29G>T
  • XR_247288.2:n.1014+29G>A
  • XR_247288.2:n.1014+29G>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 ss713643439 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs312262805 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
ss713643439NHLBI-ESP|ESP6500SI-chrX-13764603fwd/BG/Taggtaagctttatcttgttactgtaaacaaagtgatgtttttgtttgtcttctaaagtct02/20/1302/20/13138Genomicunknown
ss715578279GENEREVIEWS|NM_003611.2:c.654+29G>Afwd/TA/Gaggtaagctttatcttgttactgtaaacaaagtgatgtttttgtttgtcttctaaagtct03/05/1303/05/13137Genomicunknown
ss1694460421EVA_EXAC|EXAC_0.3.X:g13764603g>tfwd/G/Tagctttatcttgttactgtaaacaaagtgatgtttttgtttgtcttctaa03/04/1503/04/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs312262805|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=144
 TCTTTAGAAA TAAAGCTAAA TGAGTATAAG AGAGAAATAG AAGAGCAACT TCGGGCAGAA
 ATGTGTCAAA AGGTAAGCTT TATCTTGTTA CTGTAAACAA
 D
 AGTGATGTTT TTGTTTGTCT TCTAAAGTCT TAACCATAGG TATATGGGAA AATATCTAGA
 ACTTTTAATA ACGAATGGGA TACTGTACTG TTGTGCAAAT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
311200

  Population Diversity (in rs orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPG
T
ss1694460421ALL121264AF 1.000 0.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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