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Reference SNP (refSNP) Cluster Report: rs115592212                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0001/13 (ExAC)
A=0.0004/2 (1000 Genomes)
A=0.0001/13 (TOPMED)
HGVS Names
  • CM000663.2:g.3632290G>A
  • NC_000001.10:g.3548854G>A
  • NC_000001.11:g.3632290G>A
  • NG_033937.1:g.22818C>T
  • NM_017818.3:c.971C>T
  • NP_060288.3:p.Thr324Ile
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 ss217392064 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs115592212 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
ss2173920641000GENOMES|pilot_3_CHD_5_chr1_3538714fwd/TA/Gcctatgccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaaggagactg04/09/1004/09/10132Genomicunknown
ss4886488851000GENOMES|20110521_exome_1251_chr1_3548854fwd/TA/Gcctatgccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaaggagactg02/10/1202/13/12137Genomicunknown
ss12894449721000GENOMES|PHASE3_V1_113470fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga08/16/1408/16/14142Genomicunknown
ss1685260236EVA_EXAC|EVA_EXAC_46572fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga03/04/1503/04/15144Genomicunknown
ss1958234499ILLUMINA|1:3548854-GA-0_B_R_2299174383fwd/TA/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga11/13/1511/13/15147Genomicunknown
ss2731054563GNOMAD|exomes_rs115592212fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga05/17/1705/17/17151Genomicunknown
ss2746194394GNOMAD|coding_rs115592212fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga05/17/1705/17/17151Genomicunknown
ss2750954524GNOMAD|rs115592212fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga05/17/1705/17/17151Genomicunknown
ss3021047394ILLUMINA|MEGA_Consortium_v2_15070954_A2_1:3548854-GA-0_B_R_2299174383fwd/A/Ggccgattttcgggtttgctctgtcgtaacaggtttcagtgtctgtaagga06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs115592212|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GAAACGTGAA AGGAGGTGAC GTGTCGGAAA CCCCCAACTT CATTTTCTTT TCCAGTCGCT
 TCTACACCTG GGGCCACAGG ACACAGTAAA GGGTGAGACA GCACCTGCGT CAGCACAACT
 GACCGTTCCT TGTCGCCAGG AAGTAGCTGT CAGGACTAAA TGCCAGCATT CCTATGCCGA
 TTTTCGGGTT TGCTCTGTCG
 R
 TAACAGGTTT CAGTGTCTGT AAGGAGACTG GGACAGAGGC GATCTCATCT AGAACACCAA
 CAGGAAGAAC ACGCCATTGT CACCCTTTCG GGAAGTACGC ACGCGGCTGA GAGGCTGCTG
 TGCCTGCATC GGGCATCGCG AACCCAGCTC CTCTGTTCAA AGGGGAGGAA AGTGCGGCCC
 AAGGGCAGGA AGAGCTAAGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_060288  

  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
ss1289444972EAS 1008AF 0.002000000.99800003
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685260236ExAc_Aggregated_Populations121412AF 0.000107070.99989295
ss217392064pilot_3_CHD_exon_capture_panel 214AF 0.004672900.99532712

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

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