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
KO
K28209
sterile alpha motif domain-containing protein 10/12
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
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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