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Reference SNP (refSNP) Cluster Report: rs80358439                 ** With Uncertain significance,other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance,other allele [ClinVar]
MAF/MinorAlleleCount:G=0.000008/1 (ExAC)
HGVS Names
  • AAB07223.1:p.Asn517Ser
  • CM000675.2:g.32333028A>G
  • NC_000013.10:g.32907165A>G
  • NC_000013.11:g.32333028A>G
  • NG_012772.3:g.22549A>G
  • NM_000059.3:c.1550A>G
  • NP_000050.2:p.Asn517Ser
  • U43746.1:c.1550A>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 ss202256496 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs80358439 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
ss202256496BIC_BRODY|NM_000059.3:c.1550A>Gfwd/TA/Ggaataagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgactgatcc03/08/1005/13/10132Genomicunknown
ss1691250714EVA_EXAC|EVA_EXAC_6505701fwd/A/Gagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgact03/04/1503/04/15144Genomicunknown
ss2195324431HUMAN_LONGEVITY|HLI-13-32333028-A-Gfwd/A/Gagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgact11/18/1611/18/16150Genomicunknown
ss2740352806GNOMAD|exomes_rs80358439fwd/A/Gagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgact05/17/1705/17/17151Genomicunknown
ss2749029363GNOMAD|coding_rs80358439fwd/A/Gagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgact05/17/1705/17/17151Genomicunknown
ss2918246345GNOMAD|rs80358439fwd/A/Gagagaatcacctaaagagactttcatgcaagtttttcaggtcatatgact05/23/1705/23/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs80358439|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AAAAGAAAGA AAGATTTTCT TACTTCAGAG AATTCTTTGC CACGTATTTC TAGCCTACCA
 AAATCAGAGA AGCCATTAAA TGAGGAAACA GTGGTAAATA AGAGAGATGA AGAGCAGCAT
 CTTGAATCTC ATACAGACTG CATTCTTGCA GTAAAGCAGG CAATATCTGG AACTTCTCCA
 GTGGCTTCTT CATTTCAGGG TATCAAAAAG TCTATATTCA GAATAAGAGA ATCACCTAAA
 GAGACTTTCA
 R
 TGCAAGTTTT TCAGGTCATA TGACTGATCC AAACTTTAAA AAAGAAACTG AAGCCTCTGA
 AAGTGGACTG GAAATACATA CTGTTTGCTC ACAGAAGGAG GACTCCTTAT GTCCAAATTT
 AATTGATAAT GGAAGCTGGC CAGCCACCAC CACACAGAAT TCTGTAGCTT TGAAGAATGC
 AGGTTTAATA TCCACTTTGA AAAAGAAAAC AAATAAGTTT ATTTATGCTA TACATGATGA
 AACATCTTAT

  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
ss1691250714ExAc_Aggregated_Populations121410AF 0.999991770.00000824

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
byClusterUNKNOWNUNKNOWNUNKNOWN

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