NIPSNAP2
nipsnap homolog 2
Summary
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1786850413 | 7:56,032,313 | G/C | — | uncertain significance |
| rs1397718179 | 7:56,032,346 | G/C | — | uncertain significance |
| rs900164167 | 7:56,032,348 | G/T | — | uncertain significance |
| rs1049977497 | 7:56,032,361 | G/A | — | uncertain significance |
| rs1786853453 | 7:56,032,381 | C/A | — | uncertain significance |
| rs11771756 | 7:56,032,827 | T/C | regulatory region variant | — |
| rs12154231 | 7:56,032,907 | G/T | — | — |
| rs10237524 | 7:56,036,024 | G/A | intron variant | — |
| rs4535700 | 7:56,045,448 | T/G | — | — |
| rs754297119 | 7:56,045,914 | A/G | — | uncertain significance |
| rs201209040 | 7:56,045,916 | C/G | — | uncertain significance |
| rs144366493 | 7:56,049,918 | A/G | — | uncertain significance |
| rs199850047 | 7:56,049,930 | A/C | — | uncertain significance |
| rs1386045070 | 7:56,051,445 | A/G | — | uncertain significance |
| rs4948097 | 7:56,056,571 | A/C | — | — |
| rs138518850 | 7:56,062,601 | G/A | — | uncertain significance |
| rs147411342 | 7:56,062,666 | G/A | — | uncertain significance |
| rs765514799 | 7:56,065,137 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.