Homo sapiens (human): 5149
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Entry
5149 CDS
T01001
Symbol
PDE6H, ACHM6, RCD3
Name
(RefSeq) phosphodiesterase 6H
KO
K13760
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Organism
hsa
Homo sapiens (human)
Pathway
hsa00230
Purine metabolism
hsa01100
Metabolic pathways
Disease
H00481
Cone-rod dystrophy and cone dystrophy
H00971
Achromatopsia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09104 Nucleotide metabolism
00230 Purine metabolism
5149 (PDE6H)
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GFIT
Motif
Pfam:
PDE6_gamma
Motif
Other DBs
NCBI-GeneID:
5149
NCBI-ProteinID:
NP_006196
OMIM:
601190
HGNC:
8790
Ensembl:
ENSG00000139053
UniProt:
Q13956
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Position
12:14973042..14981865
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AA seq
83 aa
AA seq
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MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDI
TVICPWEAFSHLELHELAQFGII
NT seq
252 nt
NT seq
+upstream
nt +downstream
nt
atgagtgacaacactactctgcctgctccagcttcaaaccagggtcctaccaccccacgc
aaaggccctcccaagttcaagcagaggcagactcgccaattcaagagtaaacctccaaag
aaaggtgtgaaaggatttggagatgacattccaggaatggaggggctaggaacagatatc
acagtgatttgtccatgggaggcattcagccacctggaattgcatgagctcgctcagttt
gggattatctga
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