NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs1054084896                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:150/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.000008/1 (TOPMED)
HGVS Names
  • CM000684.2:g.50529598C>A
  • NC_000022.10:g.50968027C>A
  • NC_000022.11:g.50529598C>A
  • NG_011860.1:g.5488G>T
  • NG_016235.1:g.1842G>T
  • NM_001113755.2:c.112G>T
  • NM_001113756.2:c.112G>T
  • NM_001257988.1:c.112G>T
  • NM_001257989.1:c.112G>T
  • NM_001953.4:c.112G>T
  • NP_001107227.1:p.Glu38Ter
  • NP_001107228.1:p.Glu38Ter
  • NP_001244917.1:p.Glu38Ter
  • NP_001244918.1:p.Glu38Ter
  • NP_001944.1:p.Glu38Ter
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 ss2137510553 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1054084896 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
ss2137510553CLINVAR|SCV000264496_224739rev/BG/Tgacccttcgccagagcccaagcagctcccgagctgatccgcatgaagcgagacggaggcc04/28/1705/05/17150Genomicunknown
ss2415304608TOPMED|22_50968027_C/Afwd/A/Cccgtctcgcttcatgcggatcagctcgggagctgcttgggctctggcgaa11/19/1611/19/16150Genomicunknown
ss2745269929GNOMAD|exomes_gnomad_22_50968027fwd/A/Cccgtctcgcttcatgcggatcagctcgggagctgcttgggctctggcgaa05/17/1705/17/17151Genomicunknown
ss3380177724TOPMED|TOPMed_freeze_5?chr22:50,529,598fwd/A/Cccgtctcgcttcatgcggatcagctcgggagctgcttgggctctggcgaa10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1054084896|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GATGTCCGCT TCGCTCAGGC GGCCTCCGTC TCGCTTCATG CGGATCAGCT
 M
 CGGGAGCTGC TTGGGCTCTG GCGAAGGGTC GGGAAGTCCC TGGCTCCCTT

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

  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