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Reference SNP (refSNP) Cluster Report: rs55803460                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:G=0.00003/3 (ExAC)
G=0.00009/1 (GO-ESP)
G=0.0001/14 (TOPMED)
HGVS Names
  • CM000685.2:g.18613199A>G
  • NC_000023.10:g.18631319A>G
  • NC_000023.11:g.18613199A>G
  • NG_008475.1:g.192595A>G
  • NM_001037343.1:c.2200A>G
  • NM_001323289.1:c.2200A>G
  • NM_003159.2:c.2200A>G
  • NP_001032420.1:p.Thr734Ala
  • NP_001310218.1:p.Thr734Ala
  • NP_003150.1:p.Thr734Ala
  • XP_005274641.1:p.Thr734Ala
  • XP_005274642.1:p.Thr717Ala
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 ss342550472 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs55803460 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
ss74802777CANCER-GENOME|8691fwd/TA/Ggacaattctttccatgaaaataatgtgtcactagagtttcttctctaccatcagagagca07/20/0707/20/07129Genomicunknown
ss342550472NHLBI-ESP|ESP2500-chrX-18631319byFreqfwd/TA/Ggacaattctttccatgaaaataatgtgtcactagagtttcttctctaccatcagagagca03/25/1109/05/14134Genomicunknown
ss491575367EXOME_CHIP|nonsyn_291593_chr_X_18631319fwd/TA/Ggacaattctttccatgaaaataatgtgtcactagagtttcttctctaccatcagagagca03/05/1203/06/12137Genomicunknown
ss947847473EGL|SCV000111964fwd/TA/Ggacaattctttccatgaaaataatgtgtcactagagtttcttctctaccatcagagagca01/23/1401/23/14138Genomicunknown
ss1640416006EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18631319_45113898fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga03/04/1503/04/15144Genomicunknown
ss1683410039EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18631319_45113898fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga03/04/1503/04/15144Genomicunknown
ss1694468720EVA_EXAC|EVA_EXAC_9966661fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga03/04/1503/04/15144Genomicunknown
ss2316004745HUMAN_LONGEVITY|HLI-X-18613199-A-Gfwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga11/18/1611/18/16150Genomicunknown
ss2486496409TOPMED|X_18631319_A/Gfwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga11/20/1611/20/16150Genomicunknown
ss2745323691GNOMAD|exomes_rs55803460fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga05/17/1705/17/17151Genomicunknown
ss2746082306GNOMAD|coding_rs55803460fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga05/17/1705/17/17151Genomicunknown
ss2976935212GNOMAD|rs55803460fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga05/23/1705/23/17151Genomicunknown
ss3606387191TOPMED|TOPMed_freeze_5?chrX:18,613,199fwd/A/Gttctttccatgaaaataatgtgtcactagagtttcttctctaccatcaga10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs55803460|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GCCGTCTGTG GTGGTTCATG TCTGTAATCT CATCACTTTG GGAGGCTCAG GCAGGAGGAT
 TGCTTGAGCC TGGGAGGTCA AGGCTGCACT GAGCCGAGAT CACGCCACTG CACTCCAGCC
 TGGGTGACAG AGCGAGACTC TGTCTAAAAA AAAAAAAAAA AAAAAAGAAA AGTCCATCAG
 TGACTTACTT TTTCTTTATT CAGTGCCATC TCCACGTCCA GACAATTCTT TCCATGAAAA
 TAATGTGTCA
 R
 CTAGAGTTTC TTCTCTACCA TCAGAGAGCA GTTCTGGAAC CAACCACTCA AAAAGACAAC
 CAGCATTCGA TCCATGGTGA GCATTTTGGT TTGTTTTTAC TCTTCCTTTT TTTAATTGTA
 GATTTAAGAG TTGAAATAAA TTCTGGATGA GCTTTTTAGT GTCCTTTCTC CTGCTAGGCC
 TTTTTTTCTC TAGATAAATT ATTGAATAAG GAAAATGTGA TTTTTCATTA TTGGTAACTT
 TTTTCCAGTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023.8
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1694468720ExAc_Aggregated_Populations121412AF 0.999958810.00004118
ss342550472ESP_Cohort_Populations 4542GF0.99955964 0.000440330.001000000.999559640.00044033

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0060000

  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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