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Reference SNP (refSNP) Cluster Report: rs121909345                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.00004/5 (ExAC)
T=0.00005/6 (TOPMED)
HGVS Names
  • CM000664.2:g.74363337C>T
  • NC_000002.11:g.74590464C>T
  • NC_000002.12:g.74363337C>T
  • NG_008735.2:g.33751G>A
  • NM_001135040.2:c.3227G>A
  • NM_001135041.2:c.2885G>A
  • NM_001190836.1:c.3176G>A
  • NM_001190837.1:c.3281G>A
  • NM_004082.4:c.3302G>A
  • NM_023019.3:c.2900G>A
  • NP_001128512.1:p.Arg1076Lys
  • NP_001128513.1:p.Arg962Lys
  • NP_001177765.1:p.Arg1059Lys
  • NP_001177766.1:p.Arg1094Lys
  • NP_004073.2:p.Arg1101Lys
  • NP_075408.1:p.Arg967Lys
  • NR_033935.1:n.3571G>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 ss263194043 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121909345 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
ss263194043OMIM-CURATED-RECORDS|9925fwd/TA/Gcactgctgcttcagcagatctctgccatgagctgcacatctcccagctccagcatgagaa10/28/1010/28/10133Genomicunknown
ss1686368706EVA_EXAC|EVA_EXAC_1240153rev/C/Tatgctggagctgggagatgtgcagctcatggcagagatctgctgaagcag03/04/1503/04/15144Genomicunknown
ss2397583409TOPMED|2_74590464_C/Trev/C/Tatgctggagctgggagatgtgcagctcatggcagagatctgctgaagcag11/19/1611/19/16150Genomicunknown
ss2732759909GNOMAD|exomes_rs121909345rev/C/Tatgctggagctgggagatgtgcagctcatggcagagatctgctgaagcag05/17/1705/17/17151Genomicunknown
ss3021985415ILLUMINA|MEGA_Consortium_v2_15070954_A2_Variant59361-0_T_R_2308487901rev/C/Tatgctggagctgggagatgtgcagctcatggcagagatctgctgaagcag06/28/1706/28/17151Genomicunknown
ss3312143858TOPMED|TOPMed_freeze_5?chr2:74,363,337rev/C/Tatgctggagctgggagatgtgcagctcatggcagagatctgctgaagcag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121909345|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ACCAGGCTGG TGGGAGTTGG AGCTAAGGGA GCAGGGTGGA GGGGGAAGCC AGGACTGGAG
 ATGGGTGATG GGGGGATGAG GAAAGGGGAA GAGTAGGAAT GGAGCCCAAT TTTCAACCCT
 TTCCACTTGG GGCTGATGAG ATTTTTTATG GTCCCCACAG GAGCCATCCC TGGGCAGGCT
 CCAGGGTCTG TGCCAGGCCC AGGGCTGGTG AAGGACTCAC CACTGCTGCT TCAGCAGATC
 TCTGCCATGA
 R
 GCTGCACATC TCCCAGCTCC AGCATGAGAA CAGCATCCTC AAGGTGAGGG AGCCACGGGG
 AGGACTGGGA TGGGAGATGG AGCATATTTG CCCCATTGAT GATAGATGAC AGGGGCCTCC
 TAGCACCTCT TACCACTATC CTTCTTTTTT CATCCACAGG GAGCCCAGAT GAAGGCATCC
 TTGGCATCCC TGCCCCCTCT GCATGTTGCA AAGCTATCCC ATGAGGGCCC TGGCAGTGAG
 TTACCAGCTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
601143.0005

  Population Diversity (Alleles in RefSNP orientation) Note: rs121909345 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1686368706ExAc_Aggregated_Populations121412AF 0.000041180.99995881

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
byClusterbyFreqUNKNOWNUNKNOWNUNKNOWN

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