Gene Map - Chromosome: 12

OMIM Gene/Loci: 809 - 818 of 967 on Chromosome 12 (All Entries)

Show 100 |

| pter | « Towards pter | Towards qter » | qter

Phenotype Only Entries All Entries

Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Mouse symbol (from MGI)
12:112,013,426 12q24.13	C12orf8, ERP28, ERP29	Endoplasmic reticulum lumenal protein 28	602287					Erp29
12:112,026,689 12q24.13	NAA25, MDM20, C12orf30	N-alpha-acetyltransferase 25, NatB auxiliary subunit	612755					Naa25
12:112,125,560 12q24.13	TRAFD1, FLN29	TRAF-type zinc finger domain-containing 1	613197					Trafd1
12:112,160,195 12q24.13	HECTD4, C12orf51, NEDSSCC	HECT domain E3 ubiquitin protein ligase 4	620209	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	620250	AR	3	Hectd4
12:112,405,181 12q24.13	RPL6	Ribosomal protein L6	603703					Rpl6, Rpl6l
12:112,418,947 12q24.13	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	Protein tyrosine phosphatase, nonreceptor-type, 11	176876	LEOPARD syndrome 1	151100	AD	3	Ptpn11
				Leukemia, juvenile myelomonocytic, somatic	607785		3
				Metachondromatosis	156250	AD	3
				Noonan syndrome 1	163950	AD	3
12:112,575,236 12q24.13	RPH3A, KIAA0985	Rabphilin 3A	612159					Rph3a
12:112,906,962 12q24.13	OAS1, OIAS, IMD100	2',5'-oligoadenylate synthetase-1	164350	Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia	618042	AD	3	Oas1a, Oas1b, Oas1c, Oas1d, Oas1e, Oas1f, Oas1g, Oas1h
12:112,938,474 12q24.13	OAS3	2',5'-oligoadenylate synthetase-3	603351					Oas3
12:112,978,519 12q24.13	OAS2	2',5'-oligoadenylate synthetase-2	603350					Oas2

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 809 - 818 of 967 on Chromosome 12 (All Entries)

Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Mouse symbol (from MGI)
12:112,013,426-112,023,449 12q24.13	C12orf8, ERP28, ERP29	Endoplasmic reticulum lumenal protein 28	602287					Erp29
12:112,026,689-112,108,783 12q24.13	NAA25, MDM20, C12orf30	N-alpha-acetyltransferase 25, NatB auxiliary subunit	612755					Naa25
12:112,125,560-112,153,604 12q24.13	TRAFD1, FLN29	TRAF-type zinc finger domain-containing 1	613197					Trafd1
12:112,160,195-112,382,431 12q24.13	HECTD4, C12orf51, NEDSSCC	HECT domain E3 ubiquitin protein ligase 4	620209	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	620250	Autosomal recessive	3	Hectd4
12:112,405,181-112,418,835 12q24.13	RPL6	Ribosomal protein L6	603703					Rpl6, Rpl6l
12:112,418,947-112,509,918 12q24.13	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	Protein tyrosine phosphatase, nonreceptor-type, 11	176876	LEOPARD syndrome 1	151100	Autosomal dominant	3	Ptpn11
				Leukemia, juvenile myelomonocytic, somatic	607785		3
				Metachondromatosis	156250	Autosomal dominant	3
				Noonan syndrome 1	163950	Autosomal dominant	3
12:112,575,236-112,898,881 12q24.13	RPH3A, KIAA0985	Rabphilin 3A	612159					Rph3a
12:112,906,962-112,933,219 12q24.13	OAS1, OIAS, IMD100	2',5'-oligoadenylate synthetase-1	164350	Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia	618042	Autosomal dominant	3	Oas1a, Oas1b, Oas1c, Oas1d, Oas1e, Oas1f, Oas1g, Oas1h
12:112,938,474-112,973,251 12q24.13	OAS3	2',5'-oligoadenylate synthetase-3	603351					Oas3
12:112,978,519-113,011,723 12q24.13	OAS2	2',5'-oligoadenylate synthetase-2	603350					Oas2

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Printed: July 16, 2024