Human cDNA
Basic Informations | Advanced Informations |
Clone information |
Clone ID | hMU004950 |
Korean Unigene Clone | IRAT-53-E06 | |
Original Clone | IRAK-68-J21 | |
Vector | pCMV-SPORT6 | |
Gene | GABRD | |
Gene Description | gamma-aminobutyric acid type A receptor delta subunit | |
Clone sequence size | 1874 (bp) | |
Fullness | F | |
Mutation | 407 | |
Amino acid - mutation | GGT(G)-> GGC(G) | |
Price | \77,000 (부가세 포함가) |
Clone information |
5' end sequenced Length | 1874 |
Sequence | CCGCCGCGGCCATGGACGCGCCCGCCCGGCTGCTGGCCCCGCTCC TGCTCCTCTGCGCGCAGCAGCTCCGCGGCACCAGAGCGATGAATG ACATCGGCGACTACGTGGGCTCCAACCTGGAGATCTCCTGGCTCC CCAACCTGGACGGGCTGATAGCCGGCTACGCCCGCAACTTCCGGC CTGGCATCGGAGGCCCCCCCGTGAATGTGGCCCTTGCCCTGGAGG TGGCCAGCATCGACCACATCTCAGAGGCCAACATGGAGTACACCA TGACGGTGTTCCTGCACCAGAGCTGGCGGGACAGCAGGCTCTCCT ACAACCACACCAACGAGACCCTGGGCCTGGACAGCCGCTTCGTGG ACAAGCTGTGGCTGCCCGACACCTTCATCGTGAACGCCAAGTCGG CCTGGTTCCACGACGTGACGGTGGAGAACAAGCTCATCCGGCTGC AGCCCGACGGCGTGATCCTGTACAGCATCCGAATCACCTCCACTG TGGCCTGCGACATGGACCTGGCCAAATACCCCATGGACGAGCAGG AGTGCATGCTGGACCTGGAGAGCTACGGTTACTCATCGGAGGACA TCGTCTACTACTGGTCGGAGAGCCAGGAGCACATCCACGGGCTGG ACAAGCTGCAGCTGGCGCAGTTCACCATCACCAGCTACCGCTTCA CCACGGAGCTGATGAACTTCAAGTCCGCTGGCCAGTTCCCACGGC TCAGCCTGCACTTCCACCTGCGGAGGAACCGCGGCGTGTACATCA TCCAATCCTACATGCCCTCCGTCCTGCTGGTCGCCATGTCCTGGG TCTCCTTCTGGATCAGCCAGGCGGCGGTGCCCGCCAGGGTGTCTC TAGGCATCACCACGGTGCTGACGATGACCACGCTCATGGTCAGTG CCCGCTCCTCCCTGCCACGGGCATCAGCCATCAAGGCACTGGACG TCTACTTCTGGATCTGCTATGTCTTCGTGTTTGCCGCCCTGGTGG AGTACGCCTTTGCTCATTTCAACGCCGACTACAGGAAGAAGCAGA AGGCCAAGGTCAAGGTCTCCAGGCCGAGGGCAGAGATGGACGTGA GGAACGCCATTGTCCTCTTCTCCCTCTCTGCTGCCGGCGTCACGC AGGAGCTGGCCATCTCCCGCCGGCAGCGCCGCGTCCCGGGGAACC TGATGGGCTCCTACAGGTCGGTGGGGGTGGAGACAGGGGAGACGA AGAAGGAGGGGGCAGCCCGCTCAGGAGGCCAGGGGGGCATCCGTG CCCGGCTCAGGCCCATCGACGCAGACACCATTGACATTTACGCCC GCGCTGTGTTCCCTGCGGCGTTTGCGGCCGTCAATGTCATCTACT GGGCGGCATACGCCATGTGAGCACAGGACTCAGGCCACCCTCGCT TGTCCTGGCGCCCGGCGGCAGCTGCCCAGAAACTTCCTGGGAGAA AGAGCCCTCGGGCTGCCTTCCCCTCTGCGTGTTTCGAAGTGGGAT GACAGTCGGCCACGGAAAACAAGAGGAAGCCTCGGCCTCCCTGAG CTCTGACCCCAGCCTCACCCGAAAGGCCAGCCTGGGGCTCTCCGG CAGGCAGCCCGAGACCTGCACAGATGAAGGAGCAGAGGGTCTGAC CGAGAGGCTGAGCCAGGCCGGGGTCTGGGCCCTTCAGGGAGCCGC GGATTTTTATGTTCAGAAAGTGATCCTGGTTTCTAGGTCTTTGCT CTGCAGGATCGGGATCAGAGCGTGGGAGGAGGTGGGGGTGGACGT CCATCCGGTGAACAGTGAAGGCGTTTGTGAGGTCTTTCTGGTCCC AGCATGAAATAAAGCCTTGGCCTGGGGGCCGCTTCATTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
vector name | |
vector source | |
enzyme site(DNA insert) | |
sequencing primer | |
vector sequence | |
Gene Location | Chromosome | 1 | |||||||||||
Location | 1p36.3 | ||||||||||||
Strand |
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Database links | RefSeq | NM_000815 | |||||||||||
KEGG Genes | 2563 | ||||||||||||
GeneCard | GABRD |
sequence | sequence of CDS | ATGGACGCGCCCGCCCGGCTGCTGGCCCCGCTCCTGCTCCTCTGCGCGCAGCAGCTCCGCGGCACCAGAGCGATGAATGACATCGGCGACTACGTGGGCTCCAACCTGGAGATCTCCTGGCTCCCCAACCTGGACGGGCTGATAGCCGGCTACGCCCGCAACTTCCGGCCTGGCATCGGAGGCCCCCCCGTGAATGTGGCCCTTGCCCTGGAGGTGGCCAGCATCGACCACATCTCAGAGGCCAACATGGAGTACACCATGACGGTGTTCCTGCACCAGAGCTGGCGGGACAGCAGGCTCTCCTACAACCACACCAACGAGACCCTGGGTCTGGACAGCCGCTTCGTGGACAAGCTGTGGCTGCCCGACACCTTCATCGTGAACGCCAAGTCGGCCTGGTTCCACGACGTGACGGTGGAGAACAAGCTCATCCGGCTGCAGCCCGACGGCGTGATCCTGTACAGCATCCGAATCACCTCCACTGTGGCCTGCGACATGGACCTGGCCAAATACCCCATGGACGAGCAGGAGTGCATGCTGGACCTGGAGAGCTACGGTTACTCATCGGAGGACATCGTCTACTACTGGTCGGAGAGCCAGGAGCACATCCACGGGCTGGACAAGCTGCAGCTGGCGCAGTTCACCATCACCAGCTACCGCTTCACCACGGAGCTGATGAACTTCAAGTCCGCTGGCCAGTTCCCACGGCTCAGCCTGCACTTCCACCTGCGGAGGAACCGCGGCGTGTACATCATCCAATCCTACATGCCCTCCGTCCTGCTGGTCGCCATGTCCTGGGTCTCCTTCTGGATCAGCCAGGCGGCGGTGCCCGCCAGGGTGTCTCTAGGCATCACCACGGTGCTGACGATGACCACGCTCATGGTCAGTGCCCGCTCCTCCCTGCCACGGGCATCAGCCATCAAGGCACTGGACGTCTACTTCTGGATCTGCTATGTCTTCGTGTTTGCCGCCCTGGTGGAGTACGCCTTTGCTCATTTCAACGCCGACTACAGGAAGAAGCAGAAGGCCAAGGTCAAGGTCTCCAGGCCGAGGGCAGAGATGGACGTGAGGAACGCCATTGTCCTCTTCTCCCTCTCTGCTGCCGGCGTCACGCAGGAGCTGGCCATCTCCCGCCGGCAGCGCCGCGTCCCGGGGAACCTGATGGGCTCCTACAGGTCGGTGGGGGTGGAGACAGGGGAGACGAAGAAGGAGGGGGCAGCCCGCTCAGGAGGCCAGGGGGGCATCCGTGCCCGGCTCAGGCCCATCGACGCAGACACCATTGACATTTACGCCCGCGCTGTGTTCCCTGCGGCGTTTGCGGCCGTCAATGTCATCTACTGGGCGGCATACGCCATGTGA |
sequence of protein | MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM | |
Database link | RefSeq | NM_000815 |
UniProt | ||
CCDS |
Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)
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Disease | Summary |
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] |
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