This region is a highly variable minisatellite region found within an intron of the calcium voltage-gated channel subunit alpha1 H (CACNA1H) gene on the p arm of chromosome 16. This unstable variable number tandem repeat (VNTR) has repeat units that range in size from 45-54 nucleotides. This region is highly heterozygous, and has alleles ranging from 8-87 repeat units. Germline... See more...

Aliases for LOC110596863 Gene

Aliases for LOC110596863 Gene

  • MS205 Minisatellite Repeat Instability Region 3
  • D16S309 Minisatellite Repeat Instability Region 3

External Ids for LOC110596863 Gene

Summaries for LOC110596863 Gene

Entrez Gene Summary for LOC110596863 Gene

  • This region is a highly variable minisatellite region found within an intron of the calcium voltage-gated channel subunit alpha1 H (CACNA1H) gene on the p arm of chromosome 16. This unstable variable number tandem repeat (VNTR) has repeat units that range in size from 45-54 nucleotides. This region is highly heterozygous, and has alleles ranging from 8-87 repeat units. Germline instability is observed at this locus, with a strong paternal bias. The instability and variation observed at this locus is significantly more pronounced at the centromere-proximal end of the repeat. The centromere-distal end of the repeat is relatively stable, while variation in the size, type and number of repeats is pronounced at the centromere-proximal side of the repeat. This region also contains a meiotic recombination hotspot. [provided by RefSeq, Jun 2017]

GeneCards Summary for LOC110596863 Gene

LOC110596863 (MS205 Minisatellite Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC110596863 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110596863 Gene

Genomics for LOC110596863 Gene

Genomic Locations for LOC110596863 Gene

Genomic Locations for LOC110596863 Gene
chr16:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110596863 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110596863 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110596863 Gene

Proteins for LOC110596863 Gene

Post-translational modifications for LOC110596863 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110596863 Gene

Domains & Families for LOC110596863 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110596863 Gene

Function for LOC110596863 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110596863 Gene

Localization for LOC110596863 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110596863 Gene

Pathways & Interactions for LOC110596863 Gene

PathCards logo

SuperPathways for LOC110596863 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110596863 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110596863 Gene

Drugs & Compounds for LOC110596863 Gene

No Compound Related Data Available

Transcripts for LOC110596863 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110596863 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110596863 Gene

Expression for LOC110596863 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110596863 Gene

Orthologs for LOC110596863 Gene

No data available for Orthologs and Evolution for LOC110596863 Gene

Paralogs for LOC110596863 Gene

No data available for Paralogs for LOC110596863 Gene

Variants for LOC110596863 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110596863 Gene

Disorders for LOC110596863 Gene

No disorders were found for LOC110596863 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110596863 Gene

Publications for LOC110596863 Gene

  1. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 54
  2. A three-fragment phenotype in the D16S309 locus. (PMID: 18432147) Raczek E … Nowicka L (Archiwum medycyny sadowej i kryminologii 2007) 3 54
  3. The human minisatellites MS1, MS32, MS205 and CEB1 integrated into the yeast genome exhibit different degrees of mitotic instability but are all stabilised by RAD27. (PMID: 12185499) Maleki S … Rannug U (Current genetics 2002) 3 54
  4. The influence of sequence divergence between alleles of the human MS205 minisatellite incorporated into the yeast genome on length-mutation rates and lethal recombination events during meiosis. (PMID: 12051909) He Q … Rannug U (Journal of molecular biology 2002) 3 54
  5. A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outstide Africa. (PMID: 11158547) Alonso S … Armour JA (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 54

No data available for Mastermind for LOC110596863 Gene

Products for LOC110596863 Gene

Sources for LOC110596863 Gene