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Reference SNP (refSNP) Cluster Report: rs104886290                 ** 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:G/T (FWD)
Allele Origin:G:germline
T:unknown
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.108694875G>T
  • NC_000023.10:g.107938105G>T
  • NC_000023.11:g.108694875G>T
  • NG_011977.1:g.259952G>T
  • NM_000495.3:c.4757G>T
  • NM_000495.4:c.4757G>T
  • NM_033380.1:c.4775G>T
  • NM_033380.2:c.4775G>T
  • NP_000486.1:p.Cys1586Phe
  • NP_203699.1:p.Cys1592Phe
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 ss244223455 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs104886290 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
ss244223455ARUP_COL4A5|NC_000023.9:g.107824761G>Tfwd/BG/Tttcacagtcagacgatccagattccccatttcctcagggatgggattctctgtggattgg05/07/1005/07/10132Genomicunknown
ss1958210409ILLUMINA|X:107938105-G-T-0_T_R_2304284140fwd/BG/Tagtcagacgatccagattccccatttcctcagggatgggattctctgtgg11/13/1511/13/15147Genomicunknown
ss3023027118ILLUMINA|MEGA_Consortium_v2_15070954_A2_X:107938105-G-T-0_T_R_2304284140fwd/G/Tagtcagacgatccagattccccatttcctcagggatgggattctctgtgg06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs104886290|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TATGTATACT GGGAGACAAT ACTTAGCAAA TGCAATCCTC AAAGTGCATT TTTTCACCTT
 TTGTGATCAT TGAAAGAGAC ATTAATCGGC TTCCATACTA AGAAGGCTTC CAATGAAGCA
 GGATGGCTAC TTCTCACATG CTCACTCTGT AGATTATGTT CCTTCTCCTT TTCCTTTACC
 AGATGTGCAG TATGTGAAGC TCCAGCTGTG GTGATCGCAG TTCACAGTCA GACGATCCAG
 ATTCCCCATT
 K
 TCCTCAGGGA TGGGATTCTC TGTGGATTGG TTATTCCTTC ATGATGGTAT TTTACACTCT
 TCCTTGCATT TGTCATCATA GCTGACTGTC CATTCCATCT ACATTTCTTC CCAATATGAG
 GAATCCCTGT CATTTGCATA ATAAGAAGCT TAAACTTCAA ACAGCTTCTA TCCAAGCACT
 GTGTTCCCCC TCACACATTT TTTGTAACAT ATTTTCATAA TCTGCCTATT ACTTTTTTTT
 GACTACCCTT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000486  NP_203699  
OMIM
301050

  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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