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124093 CCDC78

124093

CCDC78

coiled-coil domain containing 78

protein-coding

Homo sapiens

基因描述

Type Description
Definition coiled-coil domain containing 78

研究结论

Date Results Publications
2012-10-27 10:12:00 Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. 22818856
2010-04-07 21:39:00 Observational study of gene-disease association. (HuGE Navigator) 20237496

名称对应

Type IDs
Synonymous C16orf25, CNM4, JFP10, hsCCDC78
Gene
UniProtKB-ID: CCD78_HUMAN
UniprotKB: A2IDD5
UniParc: UPI0000366AD6, UPI0000070C16, UPI000059D2DA, UPI000048985F, UPI000059D2DB, UPI00004568E2
EMBL: BC027941, AK303991, AE006464, BC031561, CH471112, AY439221, AK091831, AK298111, Z98258, BC042110, AK128538
Ensembl: ENSG00000162004
KO: hsa:124093
Nucleutide sequences
EMBL-CDS: AAK61249.1, BAC03757.1, BAG60396.1, BAG64908.1, AAH42110.1, AAR13900.1, BAC87488.1, EAW85742.1
Gene_ORFName: JFP10
Ensembl_TRS: ENST00000293889
Protein sequencees
Ensembl_PRO: ENSP00000293889
RefSeq: XP_016878418.1, XP_024305918.1, XP_011520659.1, XP_011520660.1, XP_011520672.1, XP_011520664.1, NP_001364959.1, XP_011520665.1, NP_001026907.2, NP_001364960.1, XP_011520666.1, NP_001364962.1, XP_011520668.1, XP_016878420.1, XP_011520661.1, XP_011520662.1, XP_011520671.1, XP_016878419.1, XP_006720901.1, XP_011520670.1, XP_006720906.1, XP_011520667.1, XP_011520663.1, XP_011520669.1, XP_011520673.1, XP_011520658.1
Others
UniRef100: UniRef100_A2IDD5
UniRef90: UniRef90_A2IDD5
UniRef50: UniRef50_A2IDD5
UniGene: Hs.381943
CCDS: CCDS32353.1

全选

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