NAT8
N-acetyltransferase 8 (putative)
Summary
This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4547554 | 2:73,867,862 | G/A | — | — |
| rs1245770569 | 2:73,868,171 | C/G | — | uncertain significance |
| rs1287771443 | 2:73,868,175 | T/G | — | uncertain significance |
| rs1062865 | 2:73,868,185 | T/A | — | likely benign |
| rs1062862 | 2:73,868,224 | C/T | — | likely benign |
| rs181152984 | 2:73,868,226 | G/A | — | uncertain significance |
| rs867033767 | 2:73,868,229 | T/C | — | uncertain significance |
| rs774633020 | 2:73,868,260 | G/A | — | uncertain significance |
| rs568372752 | 2:73,868,293 | T/C | — | uncertain significance |
| rs146954600 | 2:73,868,308 | G/C | — | likely benign |
| rs1476586085 | 2:73,868,311 | G/A | — | uncertain significance |
| rs13538 | 2:73,868,328 | A/C | missense variant | — |
| rs202210289 | 2:73,868,349 | C/T | — | likely benign |
| rs771215779 | 2:73,868,392 | C/T | — | uncertain significance |
| rs62000430 | 2:73,868,394 | A/G | — | benign |
| rs2466599942 | 2:73,868,395 | T/C | — | uncertain significance |
| rs141315849 | 2:73,868,421 | G/T | — | uncertain significance |
| rs764754413 | 2:73,868,443 | G/A | — | uncertain significance |
| rs747431825 | 2:73,868,452 | G/T | — | uncertain significance |
| rs150075600 | 2:73,868,474 | C/T | — | uncertain significance |
| rs371788953 | 2:73,868,523 | G/T | — | uncertain significance |
| rs78164441 | 2:73,868,672 | A/T | — | benign |
| rs372902611 | 2:73,868,688 | C/T | — | likely benign |
| rs555774069 | 2:73,868,689 | G/A | — | uncertain significance |
| rs1676403281 | 2:73,868,707 | C/T | — | uncertain significance |
| rs376046757 | 2:73,868,708 | C/G | — | uncertain significance |
| rs72635971 | 2:73,868,715 | C/T | — | uncertain significance |
| rs190944121 | 2:73,868,736 | C/T | missense variant | — |
| rs72635970 | 2:73,868,977 | T/G | upstream gene variant | — |
| rs2860716 | 2:73,870,324 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.