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Reference SNP (refSNP) Cluster Report: rs77425771                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.00007/8 (ExAC)
T=0.00008/1 (GO-ESP)
T=0.00002/2 (TOPMED)
HGVS Names
  • CM000677.2:g.74722836C>T
  • NC_000015.10:g.74722836C>T
  • NC_000015.9:g.75015177C>T
  • NG_008431.2:g.5295C>T
  • NM_000499.4:c.262G>A
  • NM_001319216.1:c.262G>A
  • NM_001319217.1:c.262G>A
  • NP_000490.1:p.Gly88Ser
  • NP_001306145.1:p.Gly88Ser
  • NP_001306146.1:p.Gly88Ser
  • XP_005254242.1:p.Gly88Ser
  • XP_005254243.1:p.Gly88Ser
  • XP_005254244.1:p.Gly88Ser
  • XP_005254245.1:p.Gly88Ser
  • XP_016877442.1:p.Gly88Ser
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 ss159100336 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs77425771 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
ss159100336NEBERTDW|CYP1A1+262fwd/BC/Tgcaccagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggagccaat07/06/0907/06/09131Genomicunknown
ss713249422NHLBI-ESP|ESP6500SI-chr15-75015177fwd/BC/Tgcaccagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggagccaat02/20/1302/20/13138Genomicunknown
ss1691925557EVA_EXAC|EVA_EXAC_7236036fwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag03/04/1503/04/15144Genomicunknown
ss2208163354HUMAN_LONGEVITY|HLI-15-74722836-C-Tfwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag11/18/1611/18/16150Genomicunknown
ss2741398406GNOMAD|exomes_rs77425771fwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag05/17/1705/17/17151Genomicunknown
ss2749350584GNOMAD|coding_rs77425771fwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag05/17/1705/17/17151Genomicunknown
ss2936799705GNOMAD|rs77425771fwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag05/23/1705/23/17151Genomicunknown
ss3231998666TOPMED|TOPMed_freeze_5?chr15:74,722,836fwd/C/Tagggcctgccggatggtgtccaggcgctcagcaccaccacgggtgtggag10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs77425771|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGAGGAGGCT GGGTCAGAGG CAATGGAGAA ACTTTTCAGG CCATTCTGGG CCAGGCGCCG
 GCGGGCAGCC CACACTGGTC CAGAGTCTGG GCTGAAGGAC ATGCTCTGAC CATTACTGAT
 GAGGGTGAAG GTGTAGAGGT CGGGCCGGCC CTTGAAATCA TCGCCCTGCC GCACCAGGGC
 CTGCCGGATG GTGTCCAGGC
 Y
 GCTCAGCACC ACCACGGGTG TGGAGCCAAT TCGGATCTGC AGCACGTCCC CATACTGCTG
 GCTCATCCTT GACAGTGCCA GGTGCGGGTT CTTTCCCAGG GTCAGCATGT GCCCAATCAG
 AGGCCAGCCC CATGGCCCTG GTGGATTCTT CAGGCCTTTG GGGACCTGAG GTCTTGAGGC
 CCTGATTACC CAGAATACCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000015.8
dbSNP Blast Analysis
3D structure mapping
NP_000490  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1691925557ExAc_Aggregated_Populations121412AF 0.999934140.00006589

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0080000

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

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