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The table below shows a few examples of human genes with known copy number changes. This page gives all variations among 100 human haplotypes and this page shows all local gene-level variations among 152 Mtb genomes.
Gene | Description |
---|---|
Amylase | Amylase, salivary [OMIM:104700] |
ARHGEF35 | Rho guanine nucleotide exchange factor 35 [NCBI:445328] |
C4 | Complement component 4 [OMIM:120810] |
CCL3L1 | Chemokine, CC motif, ligand 3-like 1 [OMIM:601395] |
CFHR1 | Complement factor H-related 1 [OMIM:134371] |
CYP2A6 | Cytochrome P450, subfamily IIA, polypeptide 6 [OMIM:122720] |
CYP2D6 | Cytochrome P450, subfamily IID, polypeptide 6 [OMIM:124030] |
GPRIN2 | GRIN family, number 2 [OMIM:611240] |
GTF2I | General transcription factor II-I [OMIM:601679] |
HPR | Haptoglobin-related protein [OMIM:140210] |
MAPT | Microtuble-associated protein tau [OMIM:157140] |
MRGPRX1 | MAS-related G protein-coupled receptor family, member X1 [OMIM:607227] |
NBPF1 | Neuroblostoma breakpoint family, member 1 [OMIM:610501] |
PDPR | Pyruvate dehydrogenase phosphatase regulatory subunit [OMIM:617835] |
ORM1 | Orosomucoid 1 [OMIM:138600] |
RHD | Rhesus (Rh) blood group, D antigen [OMIM:111680] |
SMN2 | Survival of motor neuron 2 [OMIM:601627] |
HLA-DRB1 | MHC, Class II, DR Beta-1 [OMIM:142857] |
KIR | Killer cell Ig-like receptor |