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Reference SNP (refSNP) Cluster Report: rs121909025                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/146
Map to Genome Build:107/Weight
Validation Status:
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 VariationViewerlink to OMIM
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000007.13:g.117149094G>A
  • NC_000007.14:g.117509040G>A
  • NG_016465.3:g.48257G>A
  • NM_000492.3:c.171G>A
  • NP_000483.3:p.Trp57Ter
  • XM_011515751.1:c.261G>A
  • XM_011515752.1:c.261G>A
  • XM_011515753.1:c.-73G>A
  • XM_011515754.1:c.-73G>A
  • XP_011514053.1:p.Trp87Ter
  • XP_011514054.1:p.Trp87Ter
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 ss263193404 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121909025 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
ss263193404OMIM-CURATED-RECORDS|11131fwd/TA/Ggtcccactttttattcttttgcagagaatggatagagagctggcttcaaagaaaaatcct10/28/1010/28/10133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121909025|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=133
 ACATACAATG TGGCCTTTTC ATGAAATCAA TTCCCTGCAC AGTGATATAT GGCAGAGCAT
 TGAATTCTGC CAAATATCTG GCTGAGTGTT TGGTGTTGTA TGGTCTCCAT GAGATTTTGT
 CTCTATAATA CTTGGGTTAA TCTCCTTGGA TATACTTGTG TGAATCAAAC TATGTTAAGG
 GAAATAGGAC AACTAAAATA TTTGCACATG CAACTTATTG GTCCCACTTT TTATTCTTTT
 GCAGAGAATG
 R
 GATAGAGAGC TGGCTTCAAA GAAAAATCCT AAACTCATTA ATGCCCTTCG GCGATGTTTT
 TTCTGGAGAT TTATGTTCTA TGGAATCTTT TTATATTTAG GGGTAAGGAT CTCATTTGTA
 CATTCATTAT GTATCACATA ACTATATTCA TTTTTGTGAT TATGAAAAGA CTACGAAATC
 TGGTGAATAG GTGTAAAAAT ATAAAGGATG AATCCAACTC CAAACACTAA GAAACCACCT
 AAAACTCTAG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
602421.0075

  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
UNKNOWNUNKNOWNUNKNOWN

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