| Type | Description |
|---|---|
| Definition | coiled-coil domain containing 103 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-15 12:59:00 | Pathogenic variants in CCDC103 are associated with primary ciliary dyskinesia. | 31273583 |
| 2018-10-27 11:14:00 | The CCDC103 p.His154Pro mutation is more prevalent than previously thought in the South Asian community in the UK and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests. | 28790179 |
| 2015-09-12 11:10:00 | A variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17. | 26123568 |
| 2012-08-04 11:22:00 | These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. | 22581229 |
| Type | IDs |
|---|---|
| Synonymous | CILD17, PR46b, SMH |
| Gene |
UniProtKB-ID:
CC103_HUMAN
UniprotKB:
Q8IW40
UniParc:
UPI0000074564,
UPI0001881A8B
EMBL:
BC041060,
AC015936,
DA749894,
AK289760
Ensembl:
ENSG00000167131
KO:
hsa:388389
|
| Nucleutide sequences |
EMBL-CDS:
BAF82449.1,
AAH41060.1
Ensembl_TRS:
ENST00000417826,
ENST00000410027,
ENST00000410006
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387252,
ENSP00000391692,
ENSP00000386640
RefSeq:
NP_998772.1,
NP_001245324.1,
NP_001245325.1,
NP_001245327.1,
NP_001245326.1,
NP_001245328.1
|
| Others |
UniRef100:
UniRef100_Q8IW40
UniRef90:
UniRef90_Q8IW40
UniRef50:
UniRef50_Q8IW40
UniGene:
Hs.743398
CCDS:
CCDS58554.1,
CCDS11490.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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