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Reference SNP (refSNP) Cluster Report: rs122460157                 ** With Likely pathogenic,Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:G:germline
T:de-novo;germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic,Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.18581942G>T
  • NC_000023.10:g.18600062G>T
  • NC_000023.11:g.18581942G>T
  • NG_008475.1:g.161338G>T
  • NM_001037343.1:c.455G>T
  • NM_001323289.1:c.455G>T
  • NM_003159.2:c.455G>T
  • NP_001032420.1:p.Cys152Phe
  • NP_001310218.1:p.Cys152Phe
  • NP_003150.1:p.Cys152Phe
  • XP_005274641.1:p.Cys152Phe
  • XP_005274642.1:p.Cys152Phe
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 ss289110626 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs122460157 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
ss289110626OMIM-CURATED-RECORDS|6904fwd/BG/Ttaatcagccacaatgatgtcctaaaactgttgactttggtaagttaaaaagaaattaagt12/27/1012/27/10133Genomicunknown
ss538296484CHWRETT|CDKL5: c.455G>Tfwd/BG/Ttaatcagccacaatgatgtcctaaaactgttgactttggtaagttaaaaagaaattaagt08/08/1208/08/12137Genomicunknown
ss1958178778ILLUMINA|X:18600062-G-T-0_B_F_2304285301fwd/BG/Tagccacaatgatgtcctaaaactgttgactttggtaagttaaaaagaaat11/13/1511/13/15147Genomicunknown
ss3022993129ILLUMINA|MEGA_Consortium_v2_15070954_A2_X:18600062-G-T-0_B_F_2304285301fwd/G/Tagccacaatgatgtcctaaaactgttgactttggtaagttaaaaagaaat06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs122460157|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TCTGCATGTT TCTGAGAAAG AAATTCATTG AAACTTTTAT GTACCAGCAT AAAATGTGTT
 ACTTTATTTT TGCTGCCACA GTTTTCTATT CAAATTACTC TAGATATTTC TAATTAGATG
 CTATTACAGT GATCTAACAG TGTCAATCAG GAGAACATAG AACATTTTTA CTAATTTTTT
 TTTTATCTTG ACACTCCAGA TATAAAACCA GAAAATCTCT TAATCAGCCA CAATGATGTC
 CTAAAACTGT
 K
 TGACTTTGGT AAGTTAAAAA GAAATTAAGT CCTGGTACTT ACAGAATTAA TTTATTGTAA
 CACATAGGTA GCTTTTAAAG GAATATTAAA AGTAATTGTT ATGTTTTGAC TTAAATTGGT
 AGAGGAACAT TCTTTTGAGT CACATGTTGA AAAATTGATT GCTGGAGGAG TACTGCTCTC
 TTCAGAGTAT TGTCTATTTT TAAAATTTTA TCATGGTTTT TGTTTAATCA GAACTAATTC
 AAAGCAAATA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_001032420  NP_003150  
OMIM
300203.0003

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

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

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