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Reference SNP (refSNP) Cluster Report: rs104886060                 ** With Likely pathogenic,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:A/G (FWD)
Allele Origin:A:unknown
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic,Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000685.2:g.108575937G>A
  • NC_000023.10:g.107819167G>A
  • NC_000023.11:g.108575937G>A
  • NG_011977.1:g.141014G>A
  • NM_000495.3:c.574G>A
  • NM_000495.4:c.574G>A
  • NM_033380.1:c.574G>A
  • NM_033380.2:c.574G>A
  • NP_000486.1:p.Gly192Arg
  • NP_203699.1:p.Gly192Arg
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 ss244223219 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs104886060 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
ss244223219ARUP_COL4A5|NC_000023.9:g.107705823G>Afwd/TA/Gcagggcctacctggtcccactggtataccaggccaattggtcccccaggaccaccaggtt05/07/1005/07/10132Genomicunknown
ss1958210047ILLUMINA|X:107819167-G-A-0_B_R_2304283510fwd/TA/Gcctacctggtcccactggtataccaggccaattggtcccccaggaccacc11/13/1511/13/15147Genomicunknown
ss3023026768ILLUMINA|MEGA_Consortium_v2_15070954_A2_X:107819167-G-A-0_B_R_2304283510fwd/A/Gcctacctggtcccactggtataccaggccaattggtcccccaggaccacc06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs104886060|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ATTAGCCGGA CCTGGTGGCA GGTGCCTGTA ATCTCAGCTA CTCAGGAGGC TGAGGCAGGA
 GAATTGCTTG AACCCAGGAG GCGGAGGTCG CAGTGAGTTG AGATCATGCC ATTGCACTCC
 AGCCTGGGCG ACACAAGTGA GACTTTGTGT AAAAAAAGAA AAAATACAAT AAGGGGCTTG
 TTTTTCTTTT TTTTCATCAT TTTCTTTACT CACTTTATAA CAGGGCCTAC CTGGTCCCAC
 TGGTATACCA
 R
 GGCCAATTGG TCCCCCAGGA CCACCAGGTT TGATGGTAAG CTCTCTTCTT TAATTTAATT
 TCCCCCCCTT TCCTTTCTGA CTTCTTTCAG GAATATTAAT ATTATTTATA ATACTTGAAA
 ACATAATGCA TTCTCAACAT TCATAATTTA TAATTTTCTT ATGTAAAGGT GACTTTACAA
 TGATATGGTG AATAATATGC ATTCTAAGTA ATGGCTCCAT TTTATAGATG GAAAAATGAG
 GTATATAAAA

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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