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Reference SNP (refSNP) Cluster Report: rs73891536                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/150
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:somatic
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0003/31 (ExAC)
HGVS Names
  • NC_000021.8:g.11098732C>T
  • NC_000021.9:g.10413725G>A
  • NM_182482.2:c.-15G>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 ss283456577 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs73891536 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
ss117448552ILLUMINA-UK|NA18507_000000188_NCBI36.1_chr21_10120603fwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac01/19/0901/19/09130Genomic99 %
ss133073907ENSEMBL|ENSSNP1938464byFreqfwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac12/08/0803/07/10131Genomicunknown
ss138279852ENSEMBL|ENSSNP6472567fwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac05/15/0905/17/09131Genomicunknown
ss156655237GMI|GMI_SNP_38086829fwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac06/24/0906/25/09131Genomicunknown
ss255835430BL|SNP3849_21_10120603fwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac08/20/1008/20/10134Genomicunknown
ss283456577GMI|GMI_AK_SNP_7776998fwd/C/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac12/16/1012/16/10137Genomicunknown
ss287491675GMI|GMI_NA10851_SNP_3504466fwd/C/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac12/17/1012/17/10138Genomicunknown
ss537712200YSAMUELS|NC_000021.7:g.10120603C>Tfwd/BC/Tccactccagccgccatcttactgctccggcgccatcttactgctccagccccactcctac07/17/1207/17/12137Genomicunknown
ss1694107332EVA_EXAC|EVA_EXAC_9578343fwd/C/Tccagccgccatcttactgctccggcgccatcttactgctccagccccact03/04/1503/04/15144Genomicunknown
ss1849930203YSAMUELS|YSAMUELS_snp_30031fwd/BC/Tccagccgccatcttactgctccggcgccatcttactgctccagccccact09/09/1510/21/15147Genomicunknown
ss2158597381USC_VALOUEV|NC_000021.8:g.11098732C>Tfwd/C/Tccagccgccatcttactgctccggcgccatcttactgctccagccccact11/17/1611/17/16150Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs73891536|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=150
 AGCTAATAAT GCCCCTAATT CCCCACCACC TTCCGCTGGC AGTGCACGAC GGCACACACA
 ACCTGCCTCC AACCCCCCAC CACCTTAGGC AGTGTAGACT CTGATAGCGC AGCAAACCTG
 CCCCACTGCC AGCAATTCAA CACCTGATAG TGCCACCCAC CAGCCCCCCA CGGCAGGGAG
 TGCAGCTCCA AAAGCACACC AAACCCGCTC CCCCACCACC CCGCAAGCAG GCAGTGCAGC
 CGCAGAGAGC ACACCTACCC TGCCACCTTT CTACTACTCT AACAGAGATG CAGTCTCCGT
 CACCACTACC AACCGTAGCC AGGCGAGCCG CGGTGGCCAA GGCTGCAGCC TCCAGCGTTG
 GGCACAGTCC CCACCTTCTC CTAGATCTCT AGCCGGTCAA GAGCAGCTCC AGCTGCCAGC
 CACCCTCCTA CCACTCAGGC TGTACTCCTA CCACTCCAGC CGCCATCTTA CCACTCCAGC
 CGCCATCTTA CTGCTCCGGC
 Y
 GCCATCTTAC TGCTCCAGCC CCACTCCTAC CGCTCAGGCC GCCCTCCTAA CACTCCAGCT
 GCGCTGCCAT CTCTGTTGCC ACCACCATCC AGAGCGAGAC GAGCCACGGT GTTACAGGCT
 CCAGCCTCCA ACTCCCCCTT CTCCTGGTCC TCTAAGCCGG GAACAGAGCA GCTCAGCGGG
 AGATACCAGA GACCCTAAAC TGGCGTGAGG CCTGCTCGGC ATGCACATGG GGTTACGCGC
 ATGGTTTCTG GACTACATGT TCTGATTGGG TGAGAGAAAA TCTCTAGGCC TTCTCTGATT
 GGACTTTATT TTCATACTCT AATTGGTTGT CCTAAGACTT TCATCCAATC AGAACATGAT
 AACAAAGTCC AATCAGAGTA GGCCTCCGGG CTTTCTCTTA TCCAATCCTG GAAAGTGTAG
 TCCACGAACC GCATATGCAT AACTTCAGTA CATAAATGGG GCTGAAGAAG AGTCAGGCTG
 TTCCAGGTTC TTCTGTGTCT

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

  Population Diversity (Alleles in RefSNP orientation) Note: rs73891536 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss117448552YRI 2IG 1.00000000 0.500000000.50000000
ss133073907ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 6IG0.333333340.333333340.33333334 0.500000000.50000000
ss138279852ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1694107332ExAc_Aggregated_Populations121166AF 0.999744180.00025585

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0166600

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

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