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Reference SNP (refSNP) Cluster Report: rs62621068                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.00005/5 (ExAC)
A=0.0002/1 (1000 Genomes)
A=0.00006/8 (TOPMED)
HGVS Names
  • CM000663.2:g.25284627G>A
  • NC_000001.10:g.25611118G>A
  • NC_000001.11:g.25284627G>A
  • NG_007494.1:g.17138G>A
  • NM_001127691.2:c.203G>A
  • NM_001282867.1:c.-292G>A
  • NM_001282868.1:c.203G>A
  • NM_001282869.1:c.203G>A
  • NM_001282870.1:c.203G>A
  • NM_001282871.1:c.203G>A
  • NM_001282872.1:c.203G>A
  • NM_001321772.1:c.-66-37598C>T
  • NM_016124.4:c.203G>A
  • NP_001121163.1:p.Ser68Asn
  • NP_001269797.1:p.Ser68Asn
  • NP_001269798.1:p.Ser68Asn
  • NP_001269799.1:p.Ser68Asn
  • NP_001269800.1:p.Ser68Asn
  • NP_001269801.1:p.Ser68Asn
  • NP_057208.2:p.Ser68Asn
  • NR_135787.1:n.1216-37598C>T
  • NR_135788.1:n.278-37598C>T
  • NR_135789.1:n.1216-37598C>T
  • XP_005246016.1:p.Ser68Asn
  • XP_005246017.1:p.Ser68Asn
  • XP_005246018.1:p.Ser68Asn
  • XP_005246019.1:p.Ser68Asn
  • XP_005246020.1:p.Ser68Asn
  • XP_005246021.1:p.Ser68Asn
  • XP_016857504.1:p.Ser68Asn
  • XR_946736.1:n.358G>A
  • XR_946737.1:n.358G>A
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 ss95210990 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs62621068 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
ss1530453LEE|534219fwd/TA/Gcggccattggcttgggcttcctcacctcgatttccggagacacagctggagcagtgtggc09/13/0010/10/03147cDNAunknown
ss4419865LEE|e534219fwd/TA/Gcggccattggcttgggcttcctcacctcgatttccggagacacagctggagcagtgtggc04/26/0210/10/03147cDNAunknown
ss95210990APPLERA_GI|hCV11994003fwd/TA/Gcggccattggcttgggcttcctcacctcgatttccggagacacagctggagcagtgtggc11/30/0503/13/08129Genomicunknown
ss12900889191000GENOMES|PHASE3_V1_783243fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt08/16/1408/16/14142Genomicunknown
ss1685398666EVA_EXAC|EVA_EXAC_194473fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt03/04/1503/04/15144Genomicunknown
ss2731264601GNOMAD|exomes_rs62621068fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt05/17/1705/17/17151Genomicunknown
ss2746262054GNOMAD|coding_rs62621068fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt05/17/1705/17/17151Genomicunknown
ss2752821593GNOMAD|rs62621068fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt05/17/1705/17/17151Genomicunknown
ss3071291165TOPMED|TOPMed_freeze_5?chr1:25,284,627fwd/A/Gattggcttgggcttcctcacctcgatttccggagacacagctggagcagt09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs62621068|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CTGCCCTAAG TGCTTAATTA GCTTTAGCTC CTCTAATCCT TATCTTATCC CCACACGGCA
 TGTTATGTTA TCCCCATTAT TCAGTTGAGA ACATTGAGGC TCAAAGAGGC AAAGTAACTT
 GACCAAATAC TTGTAAACGA TCTTGCATGC CCCTTCCAGC TGCCATTTAG TAAGACTCTA
 ATTTCATACC ACCCTAAATC TCGTCTGCTT CCCCCTCGTC CTTCTCGCCA TCTCCCCACC
 GAGCAGTTGG CCAAGATCTG ACCGTGATGG CGGCCATTGG CTTGGGCTTC CTCACCTCGA
 R
 TTTCCGGAGA CACAGCTGGA GCAGTGTGGC CTTCAACCTC TTCATGCTGG CGCTTGGTGT
 GCAGTGGGCA ATCCTGCTGG ACGGCTTCCT GAGCCAGTTC CCTTCTGGGA AGGTGGTCAT
 CACACTGTTC AGGTATTGGG ATGGTGGCTG GATCACTTCT GGGTCATAGA GGGAATGGAC
 CCCGAAAGGA CAGGTTCCAG AAGATCTGGG ATATTGCCCC CTCTCTGTCT AGCACCAGTG
 CTGTGCAATA TTTAGGACAT CCTTATACTA AAAGATTATT CATTGTTTAA AATTCAAATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X54534 Hs.108380
dbSNP Blast Analysis
3D structure mapping
NP_001121163  NP_057208  

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

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1290088919EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.000800000.99919999
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685398666ExAc_Aggregated_Populations111164AF 0.000044980.99995500

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0070000

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

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