rs12650877

This variant is located in the CPZ gene.

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ClinVar annotation

Benign
2 submitters

CPZ-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Uveal melanoma; Colon adenocarcinoma; Lymphoma; Nonpapillary renal cell carcinoma; Uterine carcinosarcoma; Thymoma; Melanoma; Acute myeloid leukemia; Sarcoma; Ovarian serous cystadenocarcinoma; Hepatocellular carcinoma; Cervical cancer

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About CPZ

This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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