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dbSNP
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Reference SNP (refSNP) Cluster Report: rs201312730                 
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/C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.000009/1 (ExAC)
T=0.0002/1 (1000 Genomes)
T=0.00002/2 (TOPMED)
HGVS Names
  • CM000663.2:g.935892C>A
  • CM000663.2:g.935892C>G
  • CM000663.2:g.935892C>T
  • NC_000001.10:g.871272C>G
  • NC_000001.10:g.871272C>T
  • NC_000001.11:g.935892C>A
  • NC_000001.11:g.935892C>G
  • NC_000001.11:g.935892C>T
  • NM_152486.2:c.426C>A
  • NM_152486.2:c.426C>G
  • NM_152486.2:c.426C>T
  • NP_689699.2:p.Pro142=
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 ss487561427 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201312730 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
ss4875614271000GENOMES|20110521_exome_15_chr1_871272fwd/BC/Tgagaggcagcctggagattggcctgcgaccgccggtgaggagcacagggggcctgagggc02/10/1202/13/12137Genomicunknown
ss12893427901000GENOMES|PHASE3_V1_7702fwd/C/Tgcagcctggagattggcctgcgaccgccggtgaggagcacagggggcctg08/16/1408/16/14142Genomicunknown
ss1685217449EVA_EXAC|EXAC_0.3.1:g871272c>tfwd/C/Tgcagcctggagattggcctgcgaccgccggtgaggagcacagggggcctg03/04/1503/04/15144Genomicunknown
ss2730987111GNOMAD|exomes_rs201312730fwd/A/C/G/Tgcagcctggagattggcctgcgaccgccggtgaggagcacagggggcctg05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201312730|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 CTAGGCACTC CCTGTGCCCA GGCTGGGCTC CAGCCTCGCA GCTGCCCACG GGGTCAGCTT
 TTCCCGGTCT CGTTCTGCAG CCAGGACGGC AACCTTCCCA CCCTCATATC CAGCGTCCAC
 CGCAGCCGCC ACCTCGTTAT GCCCGAGCAT CAGAGCCGCT GTGAATTCCA GAGAGGCAGC
 CTGGAGATTG GCCTGCGACC
 N
 GCCGGTGAGG AGCACAGGGG GCCTGAGGGC GGGGTCGGGG CTGTGGGGCC AGAGGACGGT
 GGCGTCTCCA CTCAGCACCA GCAGCCTTGG CAGGCAGCCA GAGAGGCAGG AGGAGCGGCC
 TGTCCCCCAG GGGCTGCATG GGATGGTAAT TGTGTTAATC CCAGCCAGCG GGGCAGACAG
 GAGGCAGAGG CGGTGGCTCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
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.
SourceHWPC
T
ss1289342790EAS 1008AF 0.999000010.00100000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217449ExAc_Aggregated_Populations121210AF 0.999991770.00000825

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

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