CD96 Chromosome 3
CD96 molecule
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What This Gene Does
The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
3q13.13-q13.2
Ensembl
ENSG00000153283
Associated Conditions (1)
C syndrome
Key Variants
RS140955483
Conflicting classifications of pathogenicity
Health Risk
RS148659928
Conflicting classifications of pathogenicity
Health Risk
RS200703204
Conflicting classifications of pathogenicity
C syndrome, C syndrome
Health Risk
RS372870533
Conflicting classifications of pathogenicity
Health Risk
RS119477056
Pathogenic
C syndrome, C syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140955483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148659928 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200703204 | Health Risk | Conflicting classifications of pathogenicity | C syndrome, C syndrome |
| RS372870533 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS119477056 | Health Risk | Pathogenic | C syndrome, C syndrome |