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Reference SNP (refSNP) Cluster Report: rs200893121                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0002/1 (1000 Genomes)
HGVS Names
  • CM000670.2:g.18400010A>G
  • NC_000008.10:g.18257520A>G
  • NC_000008.11:g.18400010A>G
  • NG_012246.1:g.13766A>G
  • NM_000015.2:c.7A>G
  • NP_000006.2:p.Ile3Val
  • XP_016868427.1:p.Ile3Val
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 ss488883393 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs200893121 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
ss4888833931000GENOMES|20110521_exome_116803_chr8_18257520fwd/TA/Gtttgtttttcttgcttaggggatcatggacttgaagcatattttgaaagaattggctata02/10/1202/13/12137Genomicunknown
ss13288538851000GENOMES|PHASE3_V1_41164969fwd/A/Gttttcttgcttaggggatcatggacttgaagcatattttgaaagaattgg08/16/1408/16/14142Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs200893121|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=142
 TACTAAGAGA ACTTATGCAT GTAAAAGGGA TTCATGCAGT AGAAATACTA ACAAAAGAAT
 TACTATGACA GATACTTATA ACCATTGTGT TTTTACGTAT TTAAAATACG TTATACCTAT
 AATTAGTCAC ACGAGGAAAT CAAATGCTAA AGTATGATAT GTTTTTATGT TTTGTTTTTC
 TTGCTTAGGG GATCATGGAC
 R
 TTGAAGCATA TTTTGAAAGA ATTGGCTATA AGAACTCTAG GAACAAATTG GACTTGGAAA
 CATTAACTGA CATTCTTGAG CACCAGATCC GGGCTGTTCC CTTTGAGAAC CTTAACATGC
 ATTGTGGGCA AGCCATGGAG TTGGGCTTAG AGGCTATTTT TGATCACATT GTAAGAAGAA
 ACCGGGGTGG GTGGTGTCTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

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

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1328853885EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.999199990.00080000
AMR 694AF 1.00000000
SAS 978AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0140000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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