NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs201488854                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0151/1897 (TOPMED)
HGVS Names
  • CM000663.2:g.84133A>T
  • NC_000001.10:g.84133A>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 ss275679950 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201488854 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
ss275679950GMI|GMI_AK_SNP_110fwd/A/Taaagactccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacataaagaa12/16/1012/16/10137Genomicunknown
ss974768823EVA-GONL|EVA-GONL_rs201488854fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata04/23/1404/23/14142Genomicunknown
ss1584129269EVA_DECODE|EVA_DECODE_1_73996_7_rs201488854fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata03/02/1503/02/15144Genomicunknown
ss1917958447WEILL_CORNELL_DGM|SNV:chr1:84133fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata10/16/1510/16/15147Genomicunknown
ss2697373129GRF|rs201488854fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata02/13/1702/13/17151Genomicunknown
ss2750606510GNOMAD|rs201488854fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata05/17/1705/17/17151Genomicunknown
ss2986142446SWEGEN|NC_000001.10:g.84133A>Tfwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata05/30/1705/30/17151Genomicunknown
ss3343271632CSHL|rs201488854fwd/A/Tctccttcagatacaaactaaaaaacctagaaagtaactcaaaaccacata10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201488854|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 TTGACAGCAG AGAGCTCATT ATAAACCATG GGTGCCAGAA GAGCTTAGGA TGACATTTTA
 AAGTTCTGAA AGAAAAAAAC ACTGTCAACC AAAAATTCTA TAACTTGGAA GATGCCCCTT
 CAAGTATTAA GGATAAATTA CACATTCCCA GATTAAAAAA AAGAAAGAGA GAGAGAGAGA
 AAGAGAAAGA AAGAAAGAGA AAGAAAGAAA GAAAGAAAGA AAGAAAGAAA GAAAGAAAGA
 AGAGAAAGAA AGAAAGAAGA AAGAGAAAGA AAGAAAGAAA GAGAGAGAGA AAGAGAGAGA
 AAGAAAAAGA AGGAAAGAAA GAAAGAAAGA AAAAAGAAAG AAAAAGAAAG AAAGAAAGAA
 AGAAAGAAAG AAAGAAAGAA AGAAAGAAAG AAAGAAAGAA AGAAAGAAAA GCAAGCAAGC
 TTTAAAAGTT CATGTTTGGT AGGCTGTACT TCAAGATACA CTTTTAAAAA AAAGACTCCT
 TCAGATACAA ACTAAAAAAC
 W
 CTAGAAAGTA ACTCAAAACC ACATAAAGAA ATAACTCCAG TAAAGATAAC TACATAGGTA
 AATATAAAAG CAATTATCAC ATTTTTTGTA AGTCTTTTTT AATATTCTAT ATGTTTTAAA
 ACAAATGTGT AAAATAATGA CTATAAATCT ATGTTAATGA AGCATGATGT ATACAGATGT
 GGTTTGTGAA ATTACCAACA TAAAGAAATT CATAGGAAAC TAAATAATAA TAGAGATTTT
 GTATACTATT GAAGTTGTTT CAATTTACTC TAAATTGTTC CAAATTAAGA ATGTTAATTG
 TAAATCCCCA TGGTAACCAC TAAGTTAATA TCTTTTGAAA ATACAGAAAA GGAAAGCACA
 GGGTAAACAC AGTGATATGC TACAAAATAG CAACTAAACA CAAAAGAAGG CGATAATTGA
 GGAAATTAGG AACAAAGGAG GTATAAGACA TACAGAAAAC AAAAGCAAAA TGGTAGGAGT
 AAGCCCCTCT TTATCAGTAA

  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
byClusterUNKNOWNUNKNOWNUNKNOWN