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Reference SNP (refSNP) Cluster Report: rs121908007                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
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:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.00002/2 (ExAC)
A=0.00008/1 (GO-ESP)
A=0.000008/1 (TOPMED)
HGVS Names
  • CM000674.2:g.56004039G>A
  • NC_000012.11:g.56397823G>A
  • NC_000012.12:g.56004039G>A
  • NG_008136.1:g.11781G>A
  • NM_000456.2:c.650G>A
  • NM_001032386.1:c.650G>A
  • NM_001032387.1:c.650G>A
  • NP_000447.2:p.Arg217Gln
  • NP_001027558.1:p.Arg217Gln
  • NP_001027559.1:p.Arg217Gln
  • XP_005269169.1:p.Arg224Gln
  • XP_016875394.1:p.Arg224Gln
  • XP_016875395.1:p.Arg224Gln
  • XP_016875396.1:p.Arg217Gln
  • XP_016875397.1:p.Arg217Gln
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 ss262857345 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121908007 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
ss262857345OMIM-CURATED-RECORDS|14309fwd/TA/Gacatcacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctggatcc09/17/1009/17/10132Genomicunknown
ss713102345NHLBI-ESP|ESP6500SI-chr12-56397823fwd/TA/Gacatcacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctggatcc02/20/1302/20/13138Genomicunknown
ss1690954817EVA_EXAC|EVA_EXAC_6184807fwd/A/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg03/04/1503/04/15144Genomicunknown
ss1946340435ILLUMINA|HumanCoreExome-12v1-0_C_newrs121908007-1_T_F_2113303201fwd/TA/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg10/29/1510/29/15147Genomicunknown
ss1959438303ILLUMINA|newrs121908007-1_T_F_2113303201fwd/TA/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg11/13/1511/13/15147Genomicunknown
ss2739889142GNOMAD|exomes_rs121908007fwd/A/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg05/17/1705/17/17151Genomicunknown
ss2984977325AFFY|Axiom_PsorMich_Affx-80245719fwd/A/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg05/24/1705/24/17151Genomicunknown
ss3021434767ILLUMINA|MEGA_Consortium_v2_15070954_A2_newrs121908007-1_T_F_2113303201fwd/A/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg06/28/1706/28/17151Genomicunknown
ss3171715806TOPMED|TOPMed_freeze_5?chr12:56,004,039fwd/A/Gacacccaaccctatcttcttcacccgaaccatctgcctgtacctaacctg09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121908007|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GAGCCCTTCT GGGCCCTCTA TGCTGTTCAC AACCAGTCCC ATGTGCGTGA GTTACTGGCT
 CAGTACAAGA TTGGGGAGCT GAATCCTGAA GACAAGGTAG CCCCCACCGT GGAGACCTCT
 GACCCTTATG CTGATGATCC TGTACGTCAC CCAGCCCTGA AGGTCAACAG CCAGCGGCCC
 TTTAATGCAG AGCCTCCCCC TGAGCTGCTG ACAGAAAACT ACATCACACC CAACCCTATC
 TTCTTCACCC
 R
 GAACCATCTG CCTGTACCTA ACCTGGATCC AGACACCTAT CGCTTACACG TAGTAGGAGC
 ACCTGGGGGT CAGTCACTGT CTCTTTCCCT GGATGACTTG CACAACTTTC CCAGGTACGA
 GATCACAGTC ACTCTGCAGT GTGCCGGCAA CCGACGCTCT GAGATGACTC AGGTCAAAGA
 AGTAAAAGGT CTGGAGTGGA GAACAGGAGC CATCAGCACT GCACGCTGGG CTGGGGCACG
 GCTCTGTGAT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000447  NP_001027558  NP_001027559  
OMIM
606887.0001

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1690954817ExAc_Aggregated_Populations121412AF 0.000016470.99998355

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

  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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