GNAS-AS1
GNAS antisense RNA 1
Summary
This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010]
Known Variants4 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6070625 | 20:57,394,628 | C/A | — | — |
| rs4810145 | 20:57,396,495 | T/C | upstream gene variant | — |
| rs73129526 | 20:57,403,223 | T/C | regulatory region variant | — |
| rs965808 | 20:57,408,426 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.