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Reference SNP (refSNP) Cluster Report: rs104895089                 ** With untested 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:A/C/G (REV)
Allele Origin:A:germline
C:unknown
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
NA
HGVS Names
  • CM000678.2:g.3243449T>C
  • CM000678.2:g.3243449T>G
  • NC_000016.10:g.3243449T>C
  • NC_000016.10:g.3243449T>G
  • NC_000016.9:g.3293449T>C
  • NC_000016.9:g.3293449T>G
  • NG_007871.1:g.18179A>C
  • NG_007871.1:g.18179A>G
  • NM_000243.2:c.2038A>C
  • NM_000243.2:c.2038A>G
  • NM_001198536.1:c.*242A>C
  • NM_001198536.1:c.*242A>G
  • NP_000234.1:p.Met680Leu
  • NP_000234.1:p.Met680Val
  • XP_016878725.1:p.Met679Leu
  • XP_016878725.1:p.Met679Val
  • XR_001751903.1:n.2345A>C
  • XR_001751903.1:n.2345A>G
  • XR_243283.1:n.2217A>C
  • XR_243283.1:n.2217A>G
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 ss244254631 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs104895089 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
ss244254631UMAI|34fwd/TA/Ctgcaagacatccataagcaggaaagggaactgactctgtcgccagagaatggctactggg06/07/1006/07/10132Genomicunknown
ss2210009862HUMAN_LONGEVITY|HLI-16-3243449-T-Crev/C/Ttagccattctctggcgacagagtcagttccctttcctgcttatggatgtc11/18/1611/18/16150Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs104895089|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=150
 TGCAGTTAAT GTGATTCTGG ATGCAGAAAC CGCTTACCCC AACCTCATCT TCTCTGATGA
 TCTGAAGAGT GTTAGACTTG GAAACAAGTG GGAGAGGCTG CCTGATGGCC CGCAAAGATT
 TGACAGCTGT ATCATTGTTC TGGGCTCTCC GAGTTTCCTC TCTGGCCGCC GTTACTGGGA
 GGTGGAGGTT GGAGACAAGA CAGCATGGAT CCTGGGAGCC TGCAAGACAT CCATAAGCAG
 GAAAGGGAAC
 V
 TGACTCTGTC GCCAGAGAAT GGCTACTGGG TGGTGATAAT GATGAAGGAA AATGAGTACC
 AGGCGTCCAG CGTTCCCCCG ACCCGCCTGC TAATAAAGGA GCCTCCCAAG CGTGTGGGCA
 TCTTCGTGGA CTACAGAGTT GGAAGCATCT CCTTTTACAA TGTGACAGCC AGATCCCACA
 TCTATACATT CGCCAGCTGC TCTTTCTCTG GGCCCCTTCA ACCTATCTTC AGCCCTGGGA
 CACGTGATGG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000234  
OMIM
249100

  Population Diversity (Alleles in RefSNP orientation) Note: rs104895089 allele is reverse to the genome 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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