LOC107275223 10p13 CCDC3 medial Alu-mediated recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107275223
Gene description: 10p13 CCDC3 medial Alu-mediated recombination region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
mobile_element
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This biological region is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 10p13 OPTN distal Alu-mediated recombination region, located about 95 kb centromere-proximal to this region, in direct orientation on the reference genome. NAHR events between these regions can lead to deletions of the intervening sequence, and such deletions are thought to be associated with amyotrophic lateral sclerosis (ALS). The NAHR region overlaps an Alu repeat element, and the repetitive nature of these elements may play an important role in providing substrates for recombination. HapMap data shows a slight increase in meiotic recombination rates in this region. [provided by RefSeq, Oct 2016]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10p13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (13013619..13016187)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (13027985..13030554)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (13055619..13058187)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

10p13 coiled-coil domain containing 3 medial Alu-mediated recombination region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.