This region is a highly variable minisatellite region that overlaps the serine incorporator 2 (SERINC2) gene on the p arm of chromosome 1. The MS1 (D1S7) minisatellite is a highly unstable GC-rich variable number tandem repeat (VNTR) with a repeat unit length of nine nucleotides, with a consensus motif of CCACCCTATC. The repeat is an imperfect repeat, with a tandem array of sim... See more...

Aliases for LOC110594336 Gene

Aliases for LOC110594336 Gene

  • MS1 Minisatellite Repeat Instability Region 3
  • D1S7 Minisatellite Repeat Instability Region 3

External Ids for LOC110594336 Gene

Summaries for LOC110594336 Gene

Entrez Gene Summary for LOC110594336 Gene

  • This region is a highly variable minisatellite region that overlaps the serine incorporator 2 (SERINC2) gene on the p arm of chromosome 1. The MS1 (D1S7) minisatellite is a highly unstable GC-rich variable number tandem repeat (VNTR) with a repeat unit length of nine nucleotides, with a consensus motif of CCACCCTATC. The repeat is an imperfect repeat, with a tandem array of similar, but non-identical repeats. When appended together, the consensus motif forms the PRDM9 A binding motif (LD hotspot motif), CCNCCNTNNCCNC. This region contains a meiotic recombination hotspot that overlaps the tandem repeat. This region shows very high heterozygosity, and has alleles ranging from 60 repeat units to greater than 1000 repeat units. The very high heterozygosity of this region makes it useful for forensic analyses. Instability at this locus is observed in both germline and somatic cells, with similar germline mutation rates observed in both males and females. Greater instability is seen in alleles with long arrays of homogeneous repeats, with deletions of the repeat observed. Repeat instability is also observed in colorectal carcinomas. [provided by RefSeq, Jul 2017]

GeneCards Summary for LOC110594336 Gene

LOC110594336 (MS1 Minisatellite Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC110594336 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 LOC110594336 Gene

Genomics for LOC110594336 Gene

Genomic Locations for LOC110594336 Gene

Genomic Locations for LOC110594336 Gene
chr1:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110594336 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110594336 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110594336 Gene

Proteins for LOC110594336 Gene

Post-translational modifications for LOC110594336 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110594336 Gene

Domains & Families for LOC110594336 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110594336 Gene

Function for LOC110594336 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 LOC110594336 Gene

Localization for LOC110594336 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 LOC110594336 Gene

Pathways & Interactions for LOC110594336 Gene

PathCards logo

SuperPathways for LOC110594336 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110594336 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110594336 Gene

Drugs & Compounds for LOC110594336 Gene

No Compound Related Data Available

Transcripts for LOC110594336 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110594336 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110594336 Gene

Expression for LOC110594336 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 LOC110594336 Gene

Orthologs for LOC110594336 Gene

No data available for Orthologs and Evolution for LOC110594336 Gene

Paralogs for LOC110594336 Gene

No data available for Paralogs for LOC110594336 Gene

Variants for LOC110594336 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110594336 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
787526 Benign: not provided 31,429,409( ) ACC/A FRAMESHIFT_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110594336 Gene

Disorders for LOC110594336 Gene

No disorders were found for LOC110594336 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110594336 Gene

Publications for LOC110594336 Gene

  1. Germline minisatellite mutations in workers occupationally exposed to radiation at the Sellafield nuclear facility. (PMID: 25485533) Tawn EJ … Jonas P (Journal of radiological protection : official journal of the Society for Radiological Protection 2015) 3 54
  2. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 54
  3. Germline minisatellite mutations in survivors of childhood and young adult cancer treated with radiation. (PMID: 21087171) Tawn EJ … Boice JD (International journal of radiation biology 2011) 3 54
  4. Fine-scale recombination rate differences between sexes, populations and individuals. (PMID: 20981099) Kong A … Stefansson K (Nature 2010) 3 54
  5. A common sequence motif associated with recombination hot spots and genome instability in humans. (PMID: 19165926) Myers S … McVean G (Nature genetics 2008) 3 54

No data available for Mastermind for LOC110594336 Gene

Products for LOC110594336 Gene

Sources for LOC110594336 Gene