| Entry |
|
| Gene name |
SNAP29, CEDNIK, SNAP-29
|
| Definition |
synaptosomal-associated protein, 29kDa
|
| Orthology |
| synaptosomal-associated protein, 29kDa |
|
| Organism |
|
| Pathway |
| SNARE interactions in vesicular transport |
|
| Disease |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
|
| Class |
Genetic Information Processing; Folding, sorting and degradation; SNARE interactions in vesicular transport [PATH: hsa04130]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
22q11.21
|
| AA seq |
258 aa  
MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAAST
SRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLV
NYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGA
GSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
VDKLDVNIKSTERKVRQL |
| NT seq |
777 nt  +upstreamnt +downstreamnt
atgtcagcttaccctaaaagctacaatccgttcgacgacgacggggaggacgaaggcgcc
cggccggccccttggagggacgcccgagacctccccgacgggcccgacgcgcccgcggac
aggcagcagtacttgcggcaggaggtcctccgcagggctgaggccacggccgccagcacc
agcaggtccctggccctcatgtacgagtccgagaaggttggggtcgcctcttccgaggag
ctcgcccgtcagcgaggagtcctggagcgcacagagaagatggtggacaagatggaccaa
gatttgaagatcagccagaaacacatcaatagcattaagagcgtgtttggggggctggtc
aattacttcaaatccaaaccagtagagaccccacctgaacagaatggcaccctcacctcc
cagcccaacaacagattgaaagaagctataagtacaagtaaagaacaggaagcaaagtac
caggccagccacccaaaccttagaaagctggatgatacagaccctgtccccagaggggct
ggttctgccatgagtactgatgcttacccaaagaacccacaccttcgagcctatcaccag
aagatcgacagcaacctagatgagctgtccatgggactgggtcgtctgaaggacatagcc
ctggggatgcagacagaaattgaggagcaagatgacattcttgaccggctgacaaccaaa
gtggacaagttagatgtcaacataaaaagcacagaaagaaaagttcgacaactctga |