Immunoglobulin-Like Domain-Containing Receptor 1

Alternative Names

  • ILDR1
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OMIM Number

609739

NCBI Gene ID

286676

Uniprot ID

Q86SU0

Length

73,232 bases

No. of Exons

9

No. of isoforms

6

Protein Name

Immunoglobulin-like domain-containing receptor 1

Molecular Mass

62815 Da

Amino Acid Count

546

Genomic Location

chr3:121,987,322-122,060,553

Gene Map Locus
3q13.33

Description

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001199799.1:c.804delUnited Arab EmiratesNC_000003.12:g.121993945delLikely PathogenicDeafness, Autosomal Recessive 42NG_031870.1:g.33336del; NM_001199799.1:c.804del; NP_001186728.1:p.Gln269ArgfsTer4
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