2q13 Copy Number Variation - CNVs Booklet

2q13 Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr2:111394040-112012649

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Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
BUB1 BUB1 mitotic checkpoint serine/threonine kinase 699 ENSG00000169679 O43683
ACOXL acyl-CoA oxidase like 55289 ENSG00000153093 Q9NUZ1
BCL2L11 BCL2 like 11 10018 ENSG00000153094 O43521