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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs141401803                 ** With Likely pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.00008/3 (ExAC)
A=0.000008/1 (TOPMED)
HGVS Names
  • CM000669.2:g.150947711G>A
  • NC_000007.13:g.150644799G>A
  • NC_000007.14:g.150947711G>A
  • NG_008916.1:g.35216C>T
  • NM_000238.3:c.2860C>T
  • NM_172057.2:c.1840C>T
  • NP_000229.1:p.Arg954Cys
  • NP_742054.1:p.Arg614Cys
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 ss290492132 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs141401803 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
ss290492132PHARMGKB_PAT|PS207035_PA160529364_273fwd/TA/Gggggcctggggctggagaagggcaccaggcgagggggctggagctgcggcctgggccctc01/21/1101/21/11134Genomicunknown
ss487105366RBH_CV_BRU|NM_000238.3:c.2860C>Trev/BC/Tgagggcccaggccgcagctccagccccctcgcctggtgcccttctccagccccaggcccc02/09/1203/09/12136Genomicunknown
ss1689026083EVA_EXAC|EVA_EXAC_4110326fwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg03/04/1503/04/15144Genomicunknown
ss2299064939HUMAN_LONGEVITY|HLI-7-150947711-G-Afwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg11/18/1611/18/16150Genomicunknown
ss2736891109GNOMAD|exomes_rs141401803fwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg05/17/1705/17/17151Genomicunknown
ss2747963571GNOMAD|coding_rs141401803fwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg05/17/1705/17/17151Genomicunknown
ss2860850390GNOMAD|rs141401803fwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg05/19/1705/19/17151Genomicunknown
ss3548424119TOPMED|TOPMed_freeze_5?chr7:150,947,711fwd/A/Gctggggctggagaagggcaccaggcgagggggctggagctgcggcctggg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs141401803|allelePos=76|totalLen=151|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TCTCGCAGTC CTCCATCAGG GGCTCCCCAC CCGGCGGCTC TCCGGGGGGC CTGGGGCTGG
 AGAAGGGCAC CAGGC
 R
 GAGGGGGCTG GAGCTGCGGC CTGGGCCCTC ATCCTCACTG CTCTCAGGGC TGGAGGGGCC
 ACTGGACGGG CTCTC

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1689026083ExAc_Aggregated_Populations117814AF 0.000025460.99997455
ss290492132PA160529365 660AF 0.001515150.99848485

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0090000

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