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Reference SNP (refSNP) Cluster Report: rs118204444                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.000008/1 (ExAC)
HGVS Names
  • CM000678.2:g.88837703G>A
  • NC_000016.10:g.88837703G>A
  • NC_000016.9:g.88904111G>A
  • NG_008667.1:g.24264C>T
  • NM_000512.4:c.485C>T
  • NM_001323543.1:c.-71C>T
  • NM_001323544.1:c.503C>T
  • NP_000503.1:p.Ser162Phe
  • NP_001310473.1:p.Ser168Phe
  • XP_005256358.1:p.Ser162Phe
  • XP_005256359.1:p.Ser168Phe
  • XP_011521284.1:p.Ser168Phe
  • XP_016878600.1:p.Ser168Phe
  • XP_016878601.1:p.Ser168Phe
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 ss252841677 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs118204444 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
ss252841677OMIM-CURATED-RECORDS|17235fwd/BC/Ttgaagcacggatttgatgagtggtttggatccccaactgccactttggaccttatgacaa08/12/1008/12/10132Genomicunknown
ss1692468284EVA_EXAC|EVA_EXAC_7816748rev/A/Gataaggtccaaagtggcagttggggatccaaaccactcatcaaatccgtg03/04/1503/04/15144Genomicunknown
ss2742240894GNOMAD|exomes_rs118204444rev/A/Gataaggtccaaagtggcagttggggatccaaaccactcatcaaatccgtg05/17/1705/17/17151Genomicunknown
ss2749624887GNOMAD|coding_rs118204444rev/A/Gataaggtccaaagtggcagttggggatccaaaccactcatcaaatccgtg05/17/1705/17/17151Genomicunknown
ss2946567760GNOMAD|rs118204444rev/A/Gataaggtccaaagtggcagttggggatccaaaccactcatcaaatccgtg05/23/1705/23/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs118204444|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CAGTGCCAGC ACCCTCCTCG GGTGAGGCCT TGGTCTTTTG TCCCTGCCGT GCCCAGGCAT
 AGCCCATACT CAGTGCTGGA GGGTGCTCGT CTTACCAAGA ATTTTGTGAA GGTGGTATCT
 GTTGCTGCTC AGAACTTCCG AGTGTCCCCA CGTGGGGTCC CTGAAGTGTC CTGGGTTCCT
 GTTTCCAGGC ATCTGGGTCA CAGGCCCCAG TTCCACCCCC TGAAGCACGG ATTTGATGAG
 TGGTTTGGAT
 Y
 CCCCAACTGC CACTTTGGAC CTTATGACAA CAAGGCCAGG CCCAACATCC CTGTGTACAG
 GGACTGGGAG ATGGTTGGCA GGTAATGGAG CCCCACCCCT TCCCCTCCCA CGTCCTGAAC
 TGCTGTGCCC GGCGTGCCTG CCCCCCGCCT CTAGCACTGG TGGGCTCAAG TCGCCACTCA
 TGAGGGCTGG TCTGTCCCTG GGTCCCCGGG CACCGAGGGC TTTGGTTTGG TGGCTTCTGT
 CCCACCAAGT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000503  
OMIM
612222.0011

  Population Diversity (Alleles in RefSNP orientation) Note: rs118204444 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1692468284ExAc_Aggregated_Populations121412AF 0.999991770.00000824

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

  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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