NMNAT2
nicotinamide nucleotide adenylyltransferase 2
Summary
This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768849266 | 1:183,230,395 | C/T | — | likely pathogenic |
| rs764247192 | 1:183,253,136 | C/G | — | uncertain significance |
| rs2526289902 | 1:183,253,865 | A/G | — | uncertain significance |
| rs137936356 | 1:183,253,889 | C/T | — | uncertain significance |
| rs760875625 | 1:183,253,890 | G/A | — | uncertain significance |
| rs199765030 | 1:183,255,818 | C/T | — | uncertain significance |
| rs2526295272 | 1:183,255,836 | T/C | — | uncertain significance |
| rs200836216 | 1:183,255,866 | C/T | — | uncertain significance |
| rs149250806 | 1:183,255,921 | C/A | — | uncertain significance |
| rs759119922 | 1:183,259,292 | C/T | — | uncertain significance |
| rs202167780 | 1:183,261,933 | A/T | — | uncertain significance |
| rs762590558 | 1:183,261,976 | C/T | — | uncertain significance |
| rs4652795 | 1:183,266,182 | C/T | intron variant | — |
| rs147885904 | 1:183,268,483 | C/T | intron variant | — |
| rs10911301 | 1:183,282,575 | A/G | intron variant | — |
| rs115807391 | 1:183,326,768 | G/A | intron variant | — |
| rs2078087 | 1:183,358,405 | C/T | intron variant | — |
| rs12405621 | 1:183,372,586 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.