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Database Contents
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Org
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Loci
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Variations
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Hs
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23638
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1307840
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Mm
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33230
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120835
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Rn
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5943
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13844
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Dm
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26367
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42120
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Ce
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15741
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1466
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| Available Amplicons |
| This list of genes contains a current count of the amplicons that you can access. |
| Locus | Gene Name | Count of Amplicons | |
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ABCA1 | ATP-binding cassette, sub-family A (ABC1), member 1 | 50 |
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ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 | 12 |
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ABCC6 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | 17 |
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ABCD1 | ATP-binding cassette, sub-family D (ALD), member 1 | 14 |
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ABCG2 | ATP-binding cassette, sub-family G (WHITE), member 2 | 22 |
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ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | 1 |
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ALG6 | asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase) | 14 |
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APC | adenomatosis polyposis coli | 28 |
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APH-1A | likely ortholog of C. elegans anterior pharynx defective 1A | 6 |
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APOD | apolipoprotein D | 5 |
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ATF2 | activating transcription factor 2 | 16 |
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ATM | ataxia telangiectasia mutated (includes complementation groups A, C and D) | 78 |
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ATP7B | ATPase, Cu++ transporting, beta polypeptide (Wilson disease) | 26 |
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ATRX | alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | 35 |
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BRCA1 | breast cancer 1, early onset | 85 |
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BRCA2 | breast cancer 2, early onset | 49 |
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BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 23 |
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C20orf31 | chromosome 20 open reading frame 31 | 12 |
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CDKN2A | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) | 4 |
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CFTR | cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) | 39 |
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CHN1 | chimerin (chimaerin) 1 | 14 |
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CHRNB4 | cholinergic receptor, nicotinic, beta polypeptide 4 | 8 |
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CLDN1 | claudin 1 | 4 |
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CREBBP | CREB binding protein (Rubinstein-Taybi syndrome) | 41 |
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CTCF | CCCTC-binding factor (zinc finger protein) | 1 |
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CUGBP2 | CUG triplet repeat, RNA binding protein 2 | 33 |
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CYBB | cytochrome b-245, beta polypeptide (chronic granulomatous disease) | 1 |
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CYP2B6 | cytochrome P450, family 2, subfamily B, polypeptide 6 | 1 |
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CYP2E1 | cytochrome P450, family 2, subfamily E, polypeptide 1 | 1 |
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CYP3A4 | cytochrome P450, family 3, subfamily A, polypeptide 4 | 1 |
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CYP4B1 | cytochrome P450, family 4, subfamily B, polypeptide 1 | 12 |
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DLX1 | distal-less homeo box 1 | 4 |
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DLX2 | distal-less homeo box 2 | 4 |
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DMD | dystrophin (muscular dystrophy, Duchenne and Becker types) | 86 |
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DPM1 | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | 8 |
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DPYD | dihydropyrimidine dehydrogenase | 17 |
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ECG2 | esophagus cancer-related gene-2 | 1 |
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ELN | elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) | 2 |
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EMD | emerin (Emery-Dreifuss muscular dystrophy) | 7 |
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EPB41L1 | erythrocyte membrane protein band 4.1-like 1 | 21 |
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ESR2 | estrogen receptor 2 (ER beta) | 10 |
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EXO1 | exonuclease 1 | 1 |
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EXT1 | exostoses (multiple) 1 | 7 |
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EXT2 | exostoses (multiple) 2 | 16 |
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F8 | coagulation factor VIII, procoagulant component (hemophilia A) | 31 |
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F9 | coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) | 9 |
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FANCG | Fanconi anemia, complementation group G | 14 |
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FBN1 | fibrillin 1 (Marfan syndrome) | 17 |
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FGFR2 | fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) | 22 |
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FGFR3 | fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) | 4 |
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FTH1 | ferritin, heavy polypeptide 1 | 5 |
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FTL | ferritin, light polypeptide | 6 |
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G6PD | glucose-6-phosphate dehydrogenase | 5 |
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GAD1 | glutamate decarboxylase 1 (brain, 67kDa) | 17 |
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GALC | galactosylceramidase (Krabbe disease) | 17 |
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GBA | glucosidase, beta; acid (includes glucosylceramidase) | 22 |
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GCK | glucokinase (hexokinase 4, maturity onset diabetes of the young 2) | 11 |
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GDAP1 | ganglioside-induced differentiation-associated protein 1 | 6 |
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GJB1 | gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) | 3 |
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GJB2 | gap junction protein, beta 2, 26kDa (connexin 26) | 9 |
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GJB3 | gap junction protein, beta 3, 31kDa (connexin 31) | 1 |
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GJB5 | gap junction protein, beta 5 (connexin 31.1) | 2 |
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GLA | galactosidase, alpha | 7 |
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HAMP | hepcidin antimicrobial peptide | 2 |
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HBB | hemoglobin, beta | 9 |
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HFE | hemochromatosis | 10 |
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HLA-A | major histocompatibility complex, class I, A | 1 |
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HOXD1 | homeo box D1 | 5 |
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HOXD13 | homeo box D13 | 3 |
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HTR3B | 5-hydroxytryptamine (serotonin) receptor 3B | 8 |
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HTR4 | 5-hydroxytryptamine (serotonin) receptor 4 | 16 |
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IGHMBP2 | immunoglobulin mu binding protein 2 | 16 |
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IL10 | interleukin 10 | 17 |
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IL13 | interleukin 13 | 8 |
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ITCH | itchy homolog E3 ubiquitin protein ligase (mouse) | 23 |
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ITGB4BP | integrin beta 4 binding protein | 6 |
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JRK | jerky homolog (mouse) | 5 |
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KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 1 |
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KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 | 1 |
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KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | 19 |
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KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 21 |
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KRAS2 | v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog | 1 |
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KRT18 | keratin 18 | 7 |
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KRT8 | keratin 8 | 8 |
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LDB3 | LIM domain binding 3 | 17 |
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LDLR | low density lipoprotein receptor (familial hypercholesterolemia) | 19 |
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LMNA | lamin A/C | 14 |
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MECP2 | methyl CpG binding protein 2 (Rett syndrome) | 25 |
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MEN1 | multiple endocrine neoplasia I | 10 |
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MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | 57 |
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MLH3 | mutL homolog 3 (E. coli) | 9 |
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MPDU1 | mannose-P-dolichol utilization defect 1 | 6 |
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MPI | mannose phosphate isomerase | 8 |
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MPO | myeloperoxidase | 3 |
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MPZ | myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) | 2 |
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MSH2 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | 32 |
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MSH6 | mutS homolog 6 (E. coli) | 16 |
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MTHFR | 5,10-methylenetetrahydrofolate reductase (NADPH) | 11 |
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MVK | mevalonate kinase (mevalonic aciduria) | 10 |
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MYOC | myocilin, trabecular meshwork inducible glucocorticoid response | 12 |
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NDUFV2 | NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa | 11 |
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NEUROD1 | neurogenic differentiation 1 | 7 |
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NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 99 |
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NPM1 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | 1 |
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NQO1 | NAD(P)H dehydrogenase, quinone 1 | 2 |
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NR0B2 | nuclear receptor subfamily 0, group B, member 2 | 8 |
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NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 2 |
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OPTN | optineurin | 13 |
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PAH | phenylalanine hydroxylase | 13 |
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PHOX2A | paired-like (aristaless) homeobox 2a | 5 |
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PKD1 | polycystic kidney disease 1 (autosomal dominant) | 51 |
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PKHD1 | polycystic kidney and hepatic disease 1 (autosomal recessive) | 79 |
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PLAGL2 | pleiomorphic adenoma gene-like 2 | 6 |
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PMM2 | phosphomannomutase 2 | 8 |
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POF1B | premature ovarian failure 1B | 17 |
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PRKAG2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | 24 |
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PRL | prolactin | 3 |
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PRLR | prolactin receptor | 2 |
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PROP1 | prophet of Pit1, paired-like homeodomain transcription factor | 3 |
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PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 7 |
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PTPN11 | protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) | 34 |
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PTPRC | protein tyrosine phosphatase, receptor type, C | 3 |
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RAPGEF4 | RAP guanine-nucleotide-exchange factor (GEF) 4 | 13 |
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RB1 | retinoblastoma 1 (including osteosarcoma) | 27 |
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RDH8 | retinol dehydrogenase 8 (all-trans) | 24 |
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RET | ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) | 25 |
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RPN2 | ribophorin II | 18 |
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RTN4R | reticulon 4 receptor | 7 |
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RYR1 | ryanodine receptor 1 (skeletal) | 28 |
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S100A2 | S100 calcium binding protein A2 | 2 |
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SGCA | sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) | 10 |
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SGCB | sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) | 6 |
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SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | 8 |
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SGCG | sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) | 8 |
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SLC26A4 | solute carrier family 26, member 4 | 19 |
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SLC40A1 | solute carrier family 40 (iron-regulated transporter), member 1 | 1 |
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SMN1 | survival of motor neuron 1, telomeric | 1 |
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SMS | spermine synthase | 11 |
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SOD1 | superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) | 1 |
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SPG4 | spastic paraplegia 4 (autosomal dominant; spastin) | 19 |
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SPINK1 | serine protease inhibitor, Kazal type 1 | 4 |
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SUOX | sulfite oxidase | 7 |
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TBR1 | T-box, brain, 1 | 10 |
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TDP1 | tyrosyl-DNA phosphodiesterase 1 | 16 |
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TFR2 | transferrin receptor 2 | 4 |
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TGFB3 | transforming growth factor, beta 3 | 11 |
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TNFRSF1B | tumor necrosis factor receptor superfamily, member 1B | 1 |
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TNFRSF6 | tumor necrosis factor receptor superfamily, member 6 | 22 |
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TNNI3 | troponin I, cardiac | 8 |
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TNNT2 | troponin T2, cardiac | 13 |