KEGG   Homo sapiens (human): 401474
Entry
401474            CDS       T01001                                 
Symbol
SAMD12, BAFME, BAFME1, FAME, FAME1, FCMTE1, MEBA
Name
(RefSeq) sterile alpha motif domain containing 12
Organism
hsa  Homo sapiens (human)
Disease
H02213  Familial adult myoclonic epilepsy
SSDB
Motif
Pfam: SAM_2 SAM_1 SAM_PNT DUF5663
Other DBs
NCBI-GeneID: 401474
NCBI-ProteinID: NP_997389
OMIM: 618073
HGNC: 31750
Ensembl: ENSG00000177570
UniProt: Q8N8I0
Position
8:complement(118131825..118621963)
AA seq 201 aa
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEA
ETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLE
RMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQGTLLLPDGWMDGEIRRKTTLLLGQTG
VRENLLLFLHRISIIENSIQI
NT seq 606 nt   +upstreamnt  +downstreamnt
atggctgtggaagctctccactgtggtttgaatccacggggtattgatcaccctgcccat
gctgaaggtattaaactgcaaattgaaggtgaaggtgtggaatctcaatccattaaaaat
aaaaatttccagaaggtgcctgaccagaaaggaactcccaagcgactgcaggcagaagct
gagacggctaagtcagctacggtgaagctatctaaaccggtggctctatggacccagcag
gatgtctgcaagtggttgaagaaacattgtccgaatcagtatcagatctacagtgagtca
ttcaaacagcatgacataactgggcgagccctgctgagacttactgacaaaaagctcgag
cgaatggggattgcccaggagaacctccggcagcacatcttacaacaggtgctccagctg
aaggtgcgagaagaagtcagaaatctacagttactcacacaaggtaccctattgcttcct
gatgggtggatggatggggagattagaagaaagaccaccttactattaggacagacagga
gtcagggagaatttgttattgtttcttcacagaatttccatcatagaaaatagtatacag
atttaa

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