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LOC110596863 MS205 minisatellite repeat instability region [ Homo sapiens (human) ]

Gene ID: 110596863, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110596863
Gene description
MS205 minisatellite repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: repeat_instability_region
misc_recomb: meiotic
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
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Genomic context

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See LOC110596863 in Genome Data Viewer
Location:
16p13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1184546..1186384)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1234546..1236384)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene 16p subtelomeric meiotic recombination hotspot Neighboring gene uncharacterized LOC105371042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1188009-1188509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1194132-1194948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1194949-1195763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1202005-1202585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1203960-1204727 Neighboring gene uncharacterized LOC124903622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1208711-1209430 Neighboring gene calcium voltage-gated channel subunit alpha1 H Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1213358-1213914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1222787-1223288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1248019-1248578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1248579-1249136 Neighboring gene uncharacterized LOC124903623 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1274120-1274306 Neighboring gene uncharacterized LOC124903621 Neighboring gene tryptase gamma 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A three-fragment phenotype in the D16S309 locus. Raczek E, et al. Arch Med Sadowej Kryminol, 2007 Oct-Dec. PMID 18432147
  2. 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. He Q, et al. J Mol Biol, 2002 May 31. PMID 12051909
  3. A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outstide Africa. Alonso S, et al. Proc Natl Acad Sci U S A, 2001 Jan 30. PMID 11158547, Free PMC Article
  4. Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy. Zheng N, et al. Environ Mol Mutagen, 2000. PMID 11013412
  5. Direct analysis by small-pool PCR of MS205 minisatellite mutation rates in sperm after mutagenic therapies. Armour JA, et al. Mutat Res, 1999 Sep 15. PMID 10521692

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • D16S309 minisatellite repeat instability region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055427.1 

    Range
    101..1939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1184546..1186384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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