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Reference SNP (refSNP) Cluster Report: rs80357088                 ** With 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:G/T (REV)
Allele Origin:G:germline
T:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.000009/1 (ExAC)
A=0.00008/1 (GO-ESP)
A=0.00006/7 (TOPMED)
HGVS Names
  • AAA73985.1:p.Ala221Ser
  • CM000679.2:g.43095855C>A
  • NC_000017.10:g.41247872C>A
  • NC_000017.11:g.43095855C>A
  • NG_005905.2:g.122129G>T
  • NM_007294.3:c.661G>T
  • NM_007297.3:c.520G>T
  • NM_007298.3:c.661G>T
  • NM_007299.3:c.661G>T
  • NM_007300.3:c.661G>T
  • NP_009225.1:p.Ala221Ser
  • NP_009228.2:p.Ala174Ser
  • NP_009229.2:p.Ala221Ser
  • NP_009230.2:p.Ala221Ser
  • NP_009231.2:p.Ala221Ser
  • NR_027676.1:n.797G>T
  • U14680.1:c.661G>T
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 ss187446099 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs80357088 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
ss187446099BIC_BRODY|U14680.1:c.661G>Tfwd/BG/Tggaaccagggatgaaatcagtttggattctcaaaaaagggtaatggcaaagtttgccaac02/04/1005/14/10132Genomicunknown
ss713395275NHLBI-ESP|ESP6500SI-chr17-41247872rev/TA/Cgttggcaaactttgccattacccttttttgagaatccaaactgatttcatccctggttcc02/20/1302/20/13138Genomicunknown
ss1635661409EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_41247872_39858076rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg03/04/1503/04/15144Genomicunknown
ss1678655442EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_41247872_39858076rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg03/04/1503/04/15144Genomicunknown
ss1692802000EVA_EXAC|EVA_EXAC_8176512rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg03/04/1503/04/15144Genomicunknown
ss2216879031HUMAN_LONGEVITY|HLI-17-43095855-C-Arev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg11/18/1611/18/16150Genomicunknown
ss2381992043TOPMED|17_41247872_C/Arev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg11/19/1611/19/16150Genomicunknown
ss2742752409GNOMAD|exomes_rs80357088rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg05/17/1705/17/17151Genomicunknown
ss2749785131GNOMAD|coding_rs80357088rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg05/17/1705/17/17151Genomicunknown
ss2949920577GNOMAD|rs80357088rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg05/23/1705/23/17151Genomicunknown
ss3262931870TOPMED|TOPMed_freeze_5?chr17:43,095,855rev/A/Ccaaactttgccattacccttttttgagaatccaaactgatttcatccctg10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs80357088|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 CGTGCCCAGC AACCATTTCA TTTCAACTAG AAGTTTCTAA AGGAGAGAGC AGCTTTCACT
 AACTAAATAA GATTGGTCAG CTTTCTGTAA TCGAAAGAGC TAAAATGTTT GATCTTGGTC
 ATTTGACAGT TCTGCATACA TGTAACTAGT GTTTCTTATT AGGACTCTGT CTTTTCCCTA
 TAGTGTGGGA GATCAAGAAT TGTTACAAAT CACCCCTCAA GGAACCAGGG ATGAAATCAG
 TTTGGATTCT
 K
 CAAAAAAGGG TAATGGCAAA GTTTGCCAAC TTAACAGGCA CTGAAAAGAG AGTGGGTAGA
 TACAGTACTG TAATTAGATT ATTCTGAAGA CCATTTGGGA CCTTTACAAC CCACAAAATC
 TCTTGGCAGA GTTAGAGTAT CATTCTCTGT CAAATGTCGT GGTATGGTCT GATAGATTTA
 AATGGTACTA GACTAATGTA CCTATAATAA GACCTTCTGT AACTGATTGT TGCCCTTTCG
 TTTTTTTTTT

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

  Population Diversity (Alleles in RefSNP orientation) Note: rs80357088 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPG
T
ss1692802000ExAc_Aggregated_Populations121408AF 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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