NPAP1 Chromosome 15
Nuclear pore associated protein 1
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What This Gene Does
This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116355882 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143728288 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146375975 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77489713 | Health Risk | Conflicting classifications of pathogenicity | — |