CNDP1
carnosine dipeptidase 1
Summary
This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62099907 | 18:72,211,092 | A/G | — | — |
| rs62099910 | 18:72,217,553 | A/G | intron variant | — |
| rs62099911 | 18:72,218,512 | A/G | intron variant | — |
| rs773767191 | 18:72,223,577 | C/T | — | uncertain significance |
| rs112094037 | 18:72,223,613 | G/A | — | uncertain significance |
| rs559481897 | 18:72,223,637 | C/T | — | likely benign |
| rs371577078 | 18:72,223,646 | C/T | — | uncertain significance |
| rs142534952 | 18:72,226,588 | G/A | — | uncertain significance |
| rs752275078 | 18:72,226,610 | G/A | — | uncertain significance |
| rs2512074482 | 18:72,226,630 | A/G | — | uncertain significance |
| rs138430555 | 18:72,226,642 | G/A | — | uncertain significance |
| rs147983814 | 18:72,226,672 | G/T | — | uncertain significance |
| rs202206682 | 18:72,228,097 | G/A | — | uncertain significance |
| rs139749526 | 18:72,228,155 | C/T | — | uncertain significance |
| rs765734751 | 18:72,228,164 | C/T | — | uncertain significance |
| rs371268412 | 18:72,228,205 | C/T | — | uncertain significance |
| rs764287048 | 18:72,228,228 | C/A | — | uncertain significance |
| rs757556243 | 18:72,228,233 | A/G | — | uncertain significance |
| rs142662230 | 18:72,229,297 | G/C | — | uncertain significance |
| rs12604675 | 18:72,230,450 | A/C | — | — |
| rs757706839 | 18:72,234,585 | G/A | — | uncertain significance |
| rs749437461 | 18:72,234,606 | A/T | — | uncertain significance |
| rs140836083 | 18:72,234,625 | C/T | — | likely benign |
| rs750904832 | 18:72,234,643 | G/A | — | uncertain significance |
| rs72981715 | 18:72,237,536 | T/C | intron variant | — |
| rs780997736 | 18:72,244,148 | T/A | — | uncertain significance |
| rs1017709996 | 18:72,244,200 | T/C | — | uncertain significance |
| rs145342799 | 18:72,244,231 | C/T | — | likely benign |
| rs148917348 | 18:72,244,256 | G/A | — | uncertain significance |
| rs755898434 | 18:72,244,260 | C/G | — | uncertain significance |
| rs940766336 | 18:72,245,420 | G/C | — | uncertain significance |
| rs142187241 | 18:72,245,458 | G/A | — | benign |
| rs148980253 | 18:72,245,535 | C/A | — | uncertain significance |
| rs4892247 | 18:72,247,278 | C/T | intron variant | — |
| rs78491213 | 18:72,247,447 | C/T | — | benign |
| rs144587048 | 18:72,247,448 | C/T | — | uncertain significance |
| rs138535410 | 18:72,247,483 | G/C | — | uncertain significance |
| rs145240287 | 18:72,247,498 | A/G | — | benign |
| rs1244702565 | 18:72,250,836 | C/T | — | uncertain significance |
| rs372773746 | 18:72,250,855 | G/A | — | likely benign |
| rs144076983 | 18:72,250,880 | G/A | — | uncertain significance |
| rs111779843 | 18:72,250,883 | G/T | — | benign |
| rs748012091 | 18:72,250,887 | T/C | — | uncertain significance |
| rs1324331208 | 18:72,251,751 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.