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Reference SNP (refSNP) Cluster Report: rs72554342                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:G:unknown
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:C=0.000008/1 (TOPMED)
HGVS Names
  • CM000685.2:g.38369849T>C
  • NC_000023.10:g.38229102T>G
  • NC_000023.11:g.38369849T>C
  • NC_000023.11:g.38369849T>G
  • NG_008471.1:g.22367T>C
  • NG_008471.1:g.22367T>G
  • NM_000531.5:c.270T>C
  • NM_000531.5:c.270T>G
  • NP_000522.3:p.Ser90=
  • NP_000522.3:p.Ser90Arg
  • XP_016885045.1:p.Ser90=
  • XP_016885045.1:p.Ser90Arg
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 ss105441820 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs72554342 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
ss105441820GENMED_METABOLISM|OTC_AAA0000070fwd/BG/Tgtccttaggcatgatttttgagaaaagaagactcgaacaagattgtctacagaaacaggt09/08/0805/22/09130Genomicunknown
ss2745359677GNOMAD|exomes_rs72554342fwd/C/Ttaggcatgatttttgagaaaagaagactcgaacaagattgtctacagaaa05/17/1705/17/17151Genomicunknown
ss3609052863TOPMED|TOPMed_freeze_5?chrX:38,369,849fwd/C/Ttaggcatgatttttgagaaaagaagactcgaacaagattgtctacagaaa10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs72554342|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TTCACTTTTT TTTTTTTGAG ATGGAATATT GCTCTGTTGC CCAGGCTGGA GTGCAGTGGC
 AAGATCTTGG CTCACTGCAA CCTCCATCTC CCAGGTTCAA GCAATTCTCC TGCCTCAGCC
 TCTCTAGTAG CTGGGATTAT AGGCACCCAC CACCACTCCA GGCTAATTTT TTTTTTTTTT
 TTTGGTATTT TGAGTAGAGA TGGGGTTTTG CCATGTTGGC CAGGCTGGTC TCGAACTCCT
 GACCTCAGGT GATCCACCTG CCTTGGCCTC CCAAAGTGCT GGGATTAAGG CATGAACCAC
 CACACCTGGC CTAAATTCAC TTTTTAAACA ATATTTTAAA CACTTATTTG GGGGTAGTTA
 TTACTTATTT TCTAATAAAG AATATGTTTT AAAACATAAT TTATATATAA GATATATTTT
 AATTCTATTC TTGTCCTTGA TTTATAGTAT TTGCCTTTAT TGCAAGGGAA GTCCTTAGGC
 ATGATTTTTG AGAAAAGAAG
 B
 ACTCGAACAA GATTGTCTAC AGAAACAGGT AAGTCCACTG CCAAATTCAC ACTTGTGTTG
 AAGAGAGGGA TTGAAGGTGA AGACTTTGGA GGGGTAACCC AGTGCGGGGA TTTGTCTGCC
 TCTAGCAACC ACAAAGAAAA AATCATTTTT ACTGGGAGCA GCAATGCAAG CCTGTGAATG
 AGATTTCCAG TTCTCATAAA AGCTGCAAGC AGAAAAATTA GCTTCATCTA TAAGAATTCC
 ATAAGGAACT GAGTAGAAGT TCCATATAAC TCTTCATGTT CAGAAAAGAA ATATAGGTGG
 GCACACATTT TCAGGCCTTG AACTCACGTG GGTAAGAAAT ATGTCTATTT TTCTAGCATG
 CAAAGAACAT TTCCTTGTGT GTCTCAATTC TGCTAGATGG TGGAAATTTA ATCTTTGCGA
 TGTTAGGCAA TCCTCAGTTG TTTTATGGTT TATTTTGTCC ATTTTGGGTC TCCTCTCCAT
 TTCCCCACAG TCAGGTTAAA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000522  
OMIM
300461

  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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