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221421 RSPH9

221421

RSPH9

radial spoke head 9 homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition radial spoke head 9 homolog

研究结论

Date Results Publications
2012-08-25 11:05:00 Mutations in RSPH9 leads to ultrastructural cilia defects and ciliary dyskinesia. 22448264
2010-05-10 12:12:00 Study focused on an extended 5 generation Bedouin family, analysed mutation segregation, and calculated the age of the mutated allele in 2 families based on haplotypes and haplotype+microsatellite in an attempt to define the source of the mutation. 20070851

名称对应

Type IDs
Synonymous C6orf206, CILD12, MRPS18AL1
Gene
UniProtKB-ID: RSPH9_HUMAN
UniprotKB: Q9H1X1
UniParc: UPI0000073514, UPI0000072E30
EMBL: CH471081, BC029519, AK291399, AL136131, AK055407
Ensembl: ENSG00000172426
KO: hsa:221421
Nucleutide sequences
EMBL-CDS: AAH29519.1, BAB70918.1, EAX04222.1, BAF84088.1
Ensembl_TRS: ENST00000372165, ENST00000372163
Protein sequencees
Ensembl_PRO: ENSP00000361238, ENSP00000361236
RefSeq: NP_001180270.1, NP_689945.2, XP_005248958.1
Others
UniRef100: UniRef100_Q9H1X1
UniRef90: UniRef90_Q9H1X1
UniRef50: UniRef50_Q9H1X1
UniGene: Hs.534585
CCDS: CCDS55005.1, CCDS4905.1

全选

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研究热度

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