Homo sapiens (human): 401474
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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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SAM_2
SAM_1
SAM_PNT
DUF5663
Motif
Other DBs
NCBI-GeneID:
401474
NCBI-ProteinID:
NP_997389
OMIM:
618073
HGNC:
31750
Ensembl:
ENSG00000177570
UniProt:
Q8N8I0
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All DBs
Position
8:complement(118131825..118621963)
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AA seq
201 aa
AA seq
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MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEA
ETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLE
RMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQGTLLLPDGWMDGEIRRKTTLLLGQTG
VRENLLLFLHRISIIENSIQI
NT seq
606 nt
NT seq
+upstream
nt +downstream
nt
atggctgtggaagctctccactgtggtttgaatccacggggtattgatcaccctgcccat
gctgaaggtattaaactgcaaattgaaggtgaaggtgtggaatctcaatccattaaaaat
aaaaatttccagaaggtgcctgaccagaaaggaactcccaagcgactgcaggcagaagct
gagacggctaagtcagctacggtgaagctatctaaaccggtggctctatggacccagcag
gatgtctgcaagtggttgaagaaacattgtccgaatcagtatcagatctacagtgagtca
ttcaaacagcatgacataactgggcgagccctgctgagacttactgacaaaaagctcgag
cgaatggggattgcccaggagaacctccggcagcacatcttacaacaggtgctccagctg
aaggtgcgagaagaagtcagaaatctacagttactcacacaaggtaccctattgcttcct
gatgggtggatggatggggagattagaagaaagaccaccttactattaggacagacagga
gtcagggagaatttgttattgtttcttcacagaatttccatcatagaaaatagtatacag
atttaa
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