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Reference SNP (refSNP) Cluster Report: rs1800014                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/144
Map to Genome Build:107/Weight
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:A=0.0162/81
MAF Source:1000 Genomes
HGVS Names
  • NC_000020.10:g.4680521G>A
  • NC_000020.11:g.4699875G>A
  • NG_009087.1:g.18725G>A
  • NM_000311.3:c.655G>A
  • NM_001080121.1:c.655G>A
  • NM_001080122.1:c.655G>A
  • NM_001080123.1:c.655G>A
  • NM_001271561.1:c.*344G>A
  • NM_183079.2:c.655G>A
  • NP_000302.1:p.Glu219Lys
  • NP_001073590.1:p.Glu219Lys
  • NP_001073591.1:p.Glu219Lys
  • NP_001073592.1:p.Glu219Lys
  • NP_898902.1:p.Glu219Lys
  • XM_005260757.1:c.650+5G>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 ss184955913 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1800014 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
ss2420071HGBASE|SNP000002637fwd/TA/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca11/07/0010/10/0389Genomicunknown
ss74818135AFFY|SNP_M-317412fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag08/09/0708/09/07128Genomicunknown
ss169687681OMICIA|2009_August_001_049_PRNP_176640_0019fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag10/01/0908/28/12137Genomicunknown
ss184955913GENEREVIEWS|PRION_6fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag12/29/0912/29/09131Genomicunknown
ss275516671OMIM-CURATED-RECORDS|4904fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag12/02/1012/02/10133Genomicunknown
ss3405903671000GENOMES|20100804_snps_12233908_chr20_4680521fwd/A/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag03/22/1103/22/11134Genomicunknown
ss4911719781000GENOMES|20110521_exome_679776_chr20_4680521fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag02/10/1202/22/12137Genomicunknown
ss491557733EXOME_CHIP|nonsyn_273959_chr_20_4680521fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag03/05/1203/06/12137Genomicunknown
ss491805626CLINSEQ_SNP|SNV-chr20-4628521fwd/TA/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca03/06/1203/13/12137Genomicunknown
ss534414156ILLUMINA|HumanOmni5-4v1_B__kgp19256569-0_T_F_1899986190fwd/TA/Ggtggttgagcagatgtgtatcacccagtacagagggaatctcaggcctattaccagagag06/22/1206/25/12138Genomicunknown
ss661977945SSMP|20_4680521fwd/TA/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca12/14/1202/14/15138Genomicunknown
ss13639010911000GENOMES|PHASE3_V1_77655372fwd/A/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca08/16/1408/16/14142Genomicunknown
ss1638322345EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_20_4680521_42806379fwd/A/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca03/04/1503/04/15144Genomicunknown
ss1681316378EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_20_4680521_42806379fwd/A/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca03/04/1503/04/15144Genomicunknown
ss1693895234EVA_EXAC|EVA_EXAC_9350633fwd/A/Gtgagcagatgtgtatcacccagtacagagggaatctcaggcctattacca03/04/1503/04/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1800014|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=144
 CAGGCCCATC ATACATTTCG GCAGTGACTA TGAGGACCGT TACTATCGTG AAAACATGCA
 CCGTTACCCC AACCAAGTGT ACTACAGGCC CATGGATGAG TACAGCAACC AGAACAACTT
 TGTGCACGAC TGCGTCAATA TCACAATCAA GCAGCACACG GTCACCACAA CCACCAAGGG
 GGAGAACTTC ACCGAGACCG ACGTTAAGAT GATGGAGCGC GTGGTTGAGC AGATGTGTAT
 CACCCAGTAC
 R
 AGAGGGAATC TCAGGCCTAT TACCAGAGAG GATCGAGCAT GGTCCTCTTC TCCTCTCCAC
 CTGTGATCCT CCTGATCTCT TTCCTCATCT TCCTGATAGT GGGATGAGGA AGGTCTTCCT
 GTTTTCACCA TCTTTCTAAT CTTTTTCCAG CTTGAGGGAG GCGGTATCCA CCTGCAGCCC
 TTTTAGTGGT GGTGTCTCAC TCTTTCTTCT CTCTTTGTCC CGGATAGGCT AATCAATACC
 CTTGGCACTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X83416
dbSNP Blast Analysis
UniGene Cluster ID
472010
3D structure mapping
NP_000302  NP_001073590  NP_001073591  NP_001073592  NP_898902  
OMIM
176640.0019

  Population Diversity (in rs orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
G/G
HWPA
G
ss1693895234ALL121412AF 0.009 0.991
ss169687681ENSEMBL_Watson 2IG 1.000 1.000
ENSEMBL_Venter 2IG 1.000 1.000
ss491805626CSAgilent 1323GF 0.003 0.997 0.002 0.998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.032+/-0.1220000

  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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