NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs806721                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
NA
HGVS Names
  • CM000663.2:g.41981A>G
  • NC_000001.10:g.41981A>G
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 ss1038417 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs806721 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
ss1038417KWOK|OVLP-000804-514527fwd/BC/Tcctgtggctttgactctcctgccatcaatgcttggccattaaactatccaaagatgcata09/02/0010/10/0386Genomic97 %
ss2363797TSC-CSHL|TSC0791632rev/TA/Gtatgcatctttggatagtttaatggccaagcattgatggcaggagagtcaaagccacagg06/14/0110/10/03108Genomicunknown
ss3800514SC_JCM|AC073186.2_97555rev/TA/Gtatgcatctttggatagtttaatggccaagcattgatggcaggagagtcaaagccacagg09/25/0110/10/03100Genomicunknown
ss162980536COMPLETE_GENOMICS|NA19240_36_chr1_31844rev/TA/Gtatgcatctttggatagtttaatggccaagcattgatggcaggagagtcaaagccacagg09/29/0909/29/09132Genomicunknown
ss165980806COMPLETE_GENOMICS|NA20431_36_chr1_31844rev/TA/Gtatgcatctttggatagtttaatggccaagcattgatggcaggagagtcaaagccacagg09/30/0909/30/09132Genomicunknown
ss553708518TISHKOFF|snp_chr1_41981rev/TA/Gatctttggatagtttaatggccaagcattgatggcaggagagtcaaagcc11/22/1211/22/12142Genomicunknown
ss1793704868HAMMER_LAB|Hsieh_1rev/TA/Gatctttggatagtttaatggccaagcattgatggcaggagagtcaaagcc07/15/1507/15/15146Genomicunknown
ss2624264576SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV10rev/A/Gatctttggatagtttaatggccaagcattgatggcaggagagtcaaagcc01/06/1701/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs806721|allelePos=405|totalLen=705|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AGAAGAAAAC AGGAAGAAAC AAATGTACAC TTCTTATTTA TGTTTCTTAT CTTACTGTAT
 ACTCCAAGCA TAGTATTAAT GAGCAGAGTT GAGAACCTGA CTCAGCCACT TATGCTTGCA
 CAATAGGCTC TTGAATAAAG TAGTGATAAG TGTCAAGTAT TAAGGTTTTG CATGGGTAAT
 TCAGCATGAT CTCTTATCAT TAAGGCAGTT CTAGCTACAG CCTCTGTTGA ATGTTTGACC
 TTTCAGAAAC AGTCATAGAT GTTCAGCCCT TGACATGAtt gaggcattca attggcaacg
 taatggcaca ttgtttaccc tctctacagt ggaagaatag caatttgttc ttactgggat
 aaatgtgttt tccacctgtg gctttgactc tcctgccatc aatg
 Y
 cttggccatt aaactatcca aagatgcata gaatgcctaa tgttctttgt aacacacctt
 aggacaaagg aatatatttt gtagcagaga aggtacaata atatgcatac aaccaaatga
 tccactggtg ctataatata ctatattaaa cagaatctat cagtctgata gaacattaaa
 agatatttct tttaaaggtg GATATAAAGG TGCAACTAAA TGCCAATTTA GGGATGGTAC
 TTTTCAGAGT TGGGGCTCTG TGCTTTAACA TGTTATACTT TGAACCAATG GACATTGTAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC073186 AC008993 AC073186.1 L78442
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) Note: rs806721 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
HWPC
ss162980536YRISub-Saharan African 2IG1.00000000 1.00000000
ss165980806PGP 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0000

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