NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs143070677                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0004/48 (ExAC)
G=0.0002/1 (1000 Genomes)
G=0.0001/14 (TOPMED)
HGVS Names
  • CM000677.2:g.74722914C>G
  • CM000677.2:g.74722914C>T
  • NC_000015.10:g.74722914C>G
  • NC_000015.10:g.74722914C>T
  • NC_000015.9:g.75015255C>G
  • NC_000015.9:g.75015255C>T
  • NG_008431.2:g.5373C>G
  • NG_008431.2:g.5373C>T
  • NM_000499.4:c.184G>A
  • NM_000499.4:c.184G>C
  • NM_001319216.1:c.184G>A
  • NM_001319216.1:c.184G>C
  • NM_001319217.1:c.184G>A
  • NM_001319217.1:c.184G>C
  • NP_000490.1:p.Ala62Pro
  • NP_000490.1:p.Ala62Thr
  • NP_001306145.1:p.Ala62Pro
  • NP_001306145.1:p.Ala62Thr
  • NP_001306146.1:p.Ala62Pro
  • NP_001306146.1:p.Ala62Thr
  • XP_005254242.1:p.Ala62Pro
  • XP_005254242.1:p.Ala62Thr
  • XP_005254243.1:p.Ala62Pro
  • XP_005254243.1:p.Ala62Thr
  • XP_005254244.1:p.Ala62Pro
  • XP_005254244.1:p.Ala62Thr
  • XP_005254245.1:p.Ala62Pro
  • XP_005254245.1:p.Ala62Thr
  • XP_016877442.1:p.Ala62Pro
  • XP_016877442.1:p.Ala62Thr
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 ss491087829 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs143070677 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
ss3388915001000GENOMES|20100804_snps_10535041_chr15_75015255fwd/C/Gccccatactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtcagcat03/22/1103/22/11134Genomicunknown
ss4910878291000GENOMES|20110521_exome_595627_chr15_75015255fwd/C/Gccccatactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtcagcat02/10/1202/22/12137Genomicunknown
ss13541267061000GENOMES|PHASE3_V1_67486136fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc08/16/1408/16/14142Genomicunknown
ss1633356472EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_75015255_37331052fwd/C/Ttactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc03/04/1503/04/15144Genomicunknown
ss1676350505EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_75015255_37331052fwd/C/Ttactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc03/04/1503/04/15144Genomicunknown
ss1691925579EVA_EXAC|EVA_EXAC_7236058fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc03/04/1503/04/15144Genomicunknown
ss2208163364HUMAN_LONGEVITY|HLI-15-74722914-C-Gfwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc11/18/1611/18/16150Genomicunknown
ss2701347414GRF|rs143070677fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc02/13/1702/13/17151Genomicunknown
ss2741398437GNOMAD|exomes_rs143070677fwd/C/G/Ttactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc05/17/1705/17/17151Genomicunknown
ss2749350598GNOMAD|coding_rs143070677fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc05/17/1705/17/17151Genomicunknown
ss2936799719GNOMAD|rs143070677fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc05/23/1705/23/17151Genomicunknown
ss3231998692TOPMED|TOPMed_freeze_5?chr15:74,722,914fwd/C/Gtactgctggctcatccttgacagtgcaggtgcgggttctttcccagggtc10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs143070677|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TCCAGAGTCT GGGCTGAAGG ACATGCTCTG ACCATTACTG ATGAGGGTGA AGGTGTAGAG
 GTCGGGCCGG CCCTTGAAAT CATCGCCCTG CCGCACCAGG GCCTGCCGGA TGGTGTCCAG
 GCCGCTCAGC ACCACCACGG GTGTGGAGCC AATTCGGATC TGCAGCACGT CCCCATACTG
 CTGGCTCATC CTTGACAGTG
 B
 CAGGTGCGGG TTCTTTCCCA GGGTCAGCAT GTGCCCAATC AGAGGCCAGC CCCATGGCCC
 TGGTGGATTC TTCAGGCCTT TGGGGACCTG AGGTCTTGAG GCCCTGATTA CCCAGAATAC
 CAGACAGAAG ATGACAGAGG CCAGAAGAAA CTCCGTGGCC GACATGGAGA TTGGGAAAAG
 CATGATCAGT GTAGGGATCT

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

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss1354126706EAS 1008AF 0.999000010.00100000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1691925579ExAc_Aggregated_Populations121412AF 0.999604640.00039535
ss338891500rs143070677 200GF 0.060000000.940000001.000000000.030000000.97000003

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0200000

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement