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Reference SNP (refSNP) Cluster Report: rs137852554                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/149
Map to Genome Build:108/Weight 1
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • NC_000023.10:g.595469C>G
  • NC_000023.11:g.634734C>G
  • NC_000024.10:g.634734C>G
  • NC_000024.9:g.545469C>G
  • NG_009385.2:g.15391C>G
  • NM_000451.3:c.394C>G
  • NM_006883.2:c.394C>G
  • NP_000442.1:p.Leu132Val
  • NP_006874.1:p.Leu132Val
  • XR_247282.1:n.1085C>G
  • XR_247322.1:n.1085C>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 ss289480845 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs137852554 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
ss289480845OMIM-CURATED-RECORDS|8481fwd/C/Gaccaacttcacgctggagcagctgaacgagtcgagcgactcttcgacgagacccattacc01/06/1101/06/11133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs137852554|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=133
 ACCCCACGCA GTTTTTGCGT CAAAGCGCAT TGGTTTTCGA GGGCCCCCTT TCCACCGCGG
 GATGCACGAA GGGGTTCGCC ACGTTGCGCA AAACCTCCCC GGCCTCAGCC CTGTGCCCTC
 CGCTCCCCAC GCAGGGATTT ATGAATGCAA AGAGAAGCGC GAGGACGTGA AGTCGGAGGA
 CGAGGACGGG CAGACCAAGC TGAAACAGAG GCGCAGCCGC ACCAACTTCA CGCTGGAGCA
 GCTGAACGAG
 S
 TCGAGCGACT CTTCGACGAG ACCCATTACC CCGACGCCTT CATGCGCGAG GAGCTCAGCC
 AGCGCCTGGG GCTCTCCGAG GCGCGCGTGC AGGTAGGAAC CCGGGGGCGG GGGCGGGGGG
 CCCGGAGCCA TCGCCTGGTC CTCGGGAGCG CACAGCACGC GTACAGCCAC CTGCGCCCGG
 GCCGCCGCCG TCCCCTTCCC GGAGCGCGGG GAGGTTGGGT GAGGGACGGG CTGGGGTTCC
 TGGACTTTTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_006874  
OMIM
312865.0004

  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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