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84529 C15orf41

84529

C15orf41

chromosome 15 open reading frame 41

protein-coding

Homo sapiens

基因描述

Type Description
Definition chromosome 15 open reading frame 41

研究结论

Date Results Publications
2021-02-02 13:28:00 Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene. 33159567
2021-01-02 12:50:00 Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 32293259
2020-12-05 13:03:00 A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I). 32239177
2017-11-25 15:58:00 Mutation in C!%ORF41 gene is associated with congenital dyserythropoietic anemia. 29031773
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121

名称对应

Type IDs
Synonymous HH114
Gene
UniProtKB-ID: CDIN1_HUMAN, H3BS01_HUMAN, A0A2R8Y7J6_HUMAN, A0A2R8YD89_HUMAN, A0A2R8YEZ2_HUMAN
UniprotKB: Q9Y2V0, H3BS01, A0A2R8Y7J6, A0A2R8YD89, A0A2R8YEZ2
UniParc: UPI0000073DED, UPI00001FE1DF, UPI00024671E4, UPI000789BC8B, UPI000789B319, UPI0003F4A851
EMBL: CH471125, AK315446, AC013640, BC006254, AC103988, AC019016, AC007429, AF114263
Ensembl: ENSG00000186073
KO: hsa:84529
Nucleutide sequences
EMBL-CDS: AAD29606.1, EAW92337.1, AAH06254.1, BAG37834.1
Ensembl_TRS: ENST00000437989, ENST00000567389, ENST00000566621, ENST00000562877, ENST00000338183, ENST00000569302, ENST00000643612, ENST00000570265, ENST00000646533
Protein sequencees
Ensembl_PRO: ENSP00000455397, ENSP00000401362, ENSP00000457854, ENSP00000342433, ENSP00000456736, ENSP00000456477, ENSP00000496325, ENSP00000493669, ENSP00000494718
RefSeq: NP_001123482.1, XP_016878165.1, XP_016878166.1, NP_001308688.1, NP_001277162.1, NP_115888.1, NP_001308687.1, NP_001308686.1, NP_001277161.1, NP_001308689.1, NP_001308690.1, XP_024305856.1, NP_001308685.1
Others
UniRef100: UniRef100_A0A2R8YD89, UniRef100_H3BS01, UniRef100_Q9Y2V0, UniRef100_A0A2R8YEZ2, UniRef100_A0A2R8Y7J6
UniRef90: UniRef90_A0A2R8Y7J6, UniRef90_A0A2R8YD89, UniRef90_A0A2R8YEZ2, UniRef90_Q9Y2V0
UniRef50: UniRef50_Q3U4G0, UniRef50_Q9Y2V0, UniRef50_I3LLK3
UniGene: Hs.48348
CCDS: CCDS45216.1, CCDS45215.1

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