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Reference SNP (refSNP) Cluster Report: rs104886243                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/150
Map to Genome Build:108/Weight 1
Validation Status:
Citation:PubMed  LitVarNEW gif
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:unknown
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
NA
HGVS Names
  • NC_000023.10:g.107910391C>T
  • NC_000023.11:g.108667161C>T
  • NG_011977.1:g.232238C>T
  • NM_000495.3:c.3582C>T
  • NM_000495.4:c.3582C>T
  • NM_033380.1:c.3582C>T
  • NM_033380.2:c.3582C>T
  • NP_000486.1:p.Pro1194=
  • NP_203699.1:p.Pro1194=
  • XM_005262070.1:c.3582C>T
  • XM_005262071.1:c.3582C>T
  • XM_011530849.2:c.3597C>T
  • XM_017029259.1:c.3597C>T
  • XM_017029260.1:c.3597C>T
  • XM_017029261.1:c.3597C>T
  • XM_017029262.1:c.3597C>T
  • XM_017029263.1:c.1917C>T
  • XP_005262127.1:p.Pro1194=
  • XP_005262128.1:p.Pro1194=
  • XP_011529151.2:p.Pro1199=
  • XP_016884748.1:p.Pro1199=
  • XP_016884749.1:p.Pro1199=
  • XP_016884750.1:p.Pro1199=
  • XP_016884751.1:p.Pro1199=
  • XP_016884752.1:p.Pro639=
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 ss244223407 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs104886243 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
ss244223407ARUP_COL4A5|NC_000023.9:g.107797050C>Tfwd/BC/Taggtcaaccaggctttggaaacccaggacccctggacttccaggactttctggtaaacct05/07/1005/07/10132Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs104886243|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=132
 ATATAGATAT ATTTAACATT CATCGGAAAT AGAATATATG TTTAGATCAT TTTCTCATGT
 TAGAATTGCA GTTCTGTGTT GGAAATAAAT CTTCTGCATG TTTCATATAA TATACATTGC
 TGCACCTAAT GAAAACCTCA ATGATCTAAA AATAATTTGG CCTTGTTTCA GTTTGTATTA
 TCCACTTGAG TTTTTGTTTT GTTTTGTTTT GTACTCTGAC AGGTCAACCA GGCTTTGGAA
 ACCCAGGACC
 Y
 CCTGGACTTC CAGGACTTTC TGGTAAACCT TAATAAAACA TGCTAAATCA ATCTATAATA
 AAATGAGATT ATTTCCAAAT ACATCTATTT TTCCATCTCC ACCTTTTACT ATCATAAAAT
 GCATGTAAGA ACCCAGAAAA CTCAAACCTA GTGTTAACGT TAAAACATTT ATTATTTAGC
 AACTTAGTTT AAGGAGTTGT GTTAAATAAA AATGTATCCT TACGGAAATT TACATGTAGA
 GATCTCTTCA

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

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