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Reference SNP (refSNP) Cluster Report: rs111033324                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/147
Map to Genome Build:107/Weight
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
NA
HGVS Names
  • NC_012920.1:m.7498G>A
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 ss244317044 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs111033324 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
ss244317044LMM-PCPGM|11613259fwd/TA/Gccccaaagctggtttcaagccaaccccatgcctccatgactttttcaaaaaggtattaga06/15/1006/15/10132Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs111033324|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=132
 ACATGAAACA TCCTATCATC TGTAGGCTCA TTCATTTCTC TAACAGCAGT AATATTAATA
 ATTTTCATGA TTTGAGAAGC CTTCGCTTCG AAGCGAAAAG TCCTAATAGT AGAAGAACCC
 TCCATAAACC TGGAGTGACT ATATGGATGC CCCCCACCCT ACCACACATT CGAAGAACCC
 GTATACATAA AATCTAGACA AAAAAGGAAG GAATCGAACC CCCCAAAGCT GGTTTCAAGC
 CAACCCCATG
 R
 CCTCCATGAC TTTTTCAAAA AGGTATTAGA AAAACCATTT CATAACTTTG TCAAAGTTAA
 ATTATAGGCT AAATCCTATA TATCTTAATG GCACATGCAG CGCAAGTAGG TCTACAAGAC
 GCTACTTCCC CTATCATAGA AGAGCTTATC ACCTTTCATG ATCACGCCCT CATAATCATT
 TTCCTTATCT GCTTCCTAGT CCTGTATGCC CTTTTCCTAA CACTCACAAC AAAACTAACT
 AATACTAACA

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

  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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