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Reference SNP (refSNP) Cluster Report: rs122460159                 ** With 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:C/T (FWD)
Allele Origin:C:germline
T:de-novo;germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.18564496C>T
  • NC_000023.10:g.18582616C>T
  • NC_000023.11:g.18564496C>T
  • NG_008475.1:g.143892C>T
  • NM_001037343.1:c.119C>T
  • NM_001323289.1:c.119C>T
  • NM_003159.2:c.119C>T
  • NP_001032420.1:p.Ala40Val
  • NP_001310218.1:p.Ala40Val
  • NP_003150.1:p.Ala40Val
  • XP_005274641.1:p.Ala40Val
  • XP_005274642.1:p.Ala40Val
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 ss289110638 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs122460159 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
ss289110638OMIM-CURATED-RECORDS|6910fwd/BC/Tttcccttgcaggaaacacatgaaattgtgggatcaagaaattcaaggacagtgaaggtag12/27/1012/27/10133Genomicunknown
ss538296360CHWRETT|CDKL5: c.119C>Tfwd/BC/Tttcccttgcaggaaacacatgaaattgtgggatcaagaaattcaaggacagtgaaggtag08/08/1208/08/12137Genomicunknown
ss1958178768ILLUMINA|X:18582616-C-T-0_B_F_2304285297fwd/BC/Tttgcaggaaacacatgaaattgtgggatcaagaaattcaaggacagtgaa11/13/1511/13/15147Genomicunknown
ss3022993125ILLUMINA|MEGA_Consortium_v2_15070954_A2_X:18582616-C-T-0_B_F_2304285297fwd/C/Tttgcaggaaacacatgaaattgtgggatcaagaaattcaaggacagtgaa06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs122460159|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGCTCCACAC CCTCTCCCTT TCTCCTTTCC CTTCCTTGAC AATGTTTGTG GGGTGATAAG
 AAAGAGATTT TGGAACCAAG AAATGAGAGG TGGCGGGGGA GAGGAAGATG ATATATTTTT
 AACACTCTGG CTTCTTGCTA CTCTGTCCCA GAATATACCC CCAGGCAACT GGAATCCCCA
 GTCGGAAAAA CACTGGAGAA TGACTTTCCT TCTGCTTCTT TTCCCTTGCA GGAAACACAT
 GAAATTGTGG
 Y
 GATCAAGAAA TTCAAGGACA GTGAAGGTAG ATATATATAT ATATATATAT ATATCTGTAT
 ATATGTATTT TTCCTTCTGT ATAAAGTTTT TATACATAGA GTGTGGAAGA AGTGGGATCT
 AGCTGGTCAG ACACTGTCTA TTCCTGATAT TTTGAAGTCA CAATCTCAGA AAGTGAATAT
 AGCTTATTTC TTATGCTTTG CTTTCAAACA TTTAGTTCCT TTTATGTGAA TCTTTTCAAA
 TCTCATGATA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_001032420  NP_003150  
OMIM
300203.0009

  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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