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dbSNP
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Reference SNP (refSNP) Cluster Report: rs201888535                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/CTA (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:-=0.3718/1862 (1000 Genomes)
-=0.2431/30523 (TOPMED)
HGVS Names
  • CM000663.2:g.63736_63738delCTA
  • NC_000001.10:g.63736_63738delCTA
  • NC_000001.11:g.63736_63738delCTA
  • NG_004423.3:g.821_823delCTA
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 ss287939195 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201888535 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
ss287939195GMI|GMI_AK_INDEL_10fwd/-/CTAcatgcatgtttctctacgtgtggcctttccctaagtcattggataaattttttgccatca12/20/1012/22/11137Genomicunknown
ss4987637601000GENOMES|20110316_indels_chr1_63735_63737fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc03/19/1203/19/12137Genomicunknown
ss550899109LUNTER|YRI_1_53599-53601fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc11/21/1211/21/12138Genomic95 %
ss550903083LUNTER|CEU_1_53599-53601fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc11/21/1211/21/12138Genomic95 %
ss552738961LUNTER|JPTCHB_1_53599-53601fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc11/21/1211/21/12138Genomic95 %
ss663198146SSMP|indel_1_63736fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc12/18/1202/09/15144Genomicunknown
ss666079955BILGI_BIOE|indel_1_63736-63738fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc12/26/1212/26/12138Genomicunknown
ss974768773EVA-GONL|EVA-GONL_rs201888535fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc04/23/1404/23/14142Genomicunknown
ss13676452161000GENOMES|PHASE3_V1_373byFreqfwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc08/16/1408/07/15142Genomicunknown
ss1573867000EVA_GENOME_DK|EVA_GENOME_DK_gatk_indels_rs201888535fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc02/19/1502/19/15144Genomicunknown
ss2750604475GNOMAD|rs201888535fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc05/17/1705/17/17151Genomicunknown
ss2986142050SWEGEN|NC_000001.10:63736_63738delfwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc05/30/1705/30/17151Genomicunknown
ss3063573409MCHAISSO|HG005145fwd/-/CTAatgtttctctacgtgtggcctttccctaagtcattggataaattttttgc09/15/1709/15/17151Genomic92 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201888535|allelePos=501|totalLen=1001|taxid=9606|snpclass=2|alleles='-/CTA'|mol=Genomic|build=151
 TTGCATGATA CAAAAGTTCT TTATCCATGT TATGGGAGGA GTTGAAATGG TGCTGCTGAT
 AGTCATGGCA TATGATAGGT ACACTGCGAT CTGCAAGCCT CTCCACTATC CAACTATTAT
 GAATCCCAAA ATGTGCATGT TTTTGGTAGC AGCAGCTTGG GTCATTGGGG TGATTCATGC
 TATGTCTCAG TTTGTTTTTG TCATAAATTT ACCCTTCTGT GGCCCTAATA ATGTGGGGAG
 CTTTTATTGT GATTTTCCTC GGGTTATTAA ACTTGCATGC ATGGACACTT ATGGGCTAGA
 ATTTGTGGTC ACTGCCAACA GTGGATTCAT ATCGATGGGC ACCTTCTTTT TCTTAATTGT
 ATCATACATT TTTATTCTGG TCACTGTCCA ACGACATTCC TCAAATGATT TATCCAAAGC
 ATTCTTCACT TCGTCGGCTC ACATCACCGT AGTGGTTTTG TTTTTTGCTC CATGCATGTT
 TCTCTACGTG TGGCCTTTCC
 N
 CTAAGTCATT GGATAAATTT TTTGCCATCA TGAACTTTGT TGTCACCCCT GTCGTAAATC
 CTGCCATCTA TACTTTAAGG AACAAAGATA TGAAGTTTGC AATGAGAAGG CTGAATCAAC
 ATATTTTAAA TTCTATGGAG ACGACATAAC ACATTTGGTT GATGAGAGCA CAGGATAAAT
 GCCATGGACC ATCAAGACTC CTGTGATCAC CATGATCACT ATGGAACGCG CACATTTTTA
 GTATTGCCTG AAAAAACTGA AAAATCTGCA AAAAGGATGC ATTAAATCTA AGAATTGTAT
 TTCAGATAAA GTTGCAACAT TTTTTGTTAA TCATAAAAAG TATATATTTC TATCTAATGT
 GTGTATCTAA TTAACAGCAA TGACTACCTT TAATTTTGAT GTAGTTATTT TATATCTGTA
 TATAAGCACA TACACATATA TATGACCTAG GTTTATTTAT CAGTATTTTT ATGCTGATAA
 TAAGCATCAC TGGAAATTAA

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

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWP-
CTA
ss1367645216EAS 1008AF 0.729200010.27079999
EUR 1006AF 0.338999990.66100001
AFR 1322AF 0.107400000.89260000
AMR 694AF 0.299700020.70030004
SAS 978AF 0.445800010.55420005

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.467+/-0.1240000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN