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127003 C1orf194

127003

C1orf194

chromosome 1 open reading frame 194

protein-coding

Homo sapiens

基因描述

Type Description
Definition chromosome 1 open reading frame 194

研究结论

Date Results Publications
2020-05-30 13:08:00 the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth disease are reported 31199454

名称对应

Type IDs
Gene
UniProtKB-ID: CA194_HUMAN
UniprotKB: Q5T5A4
UniParc: UPI000015FF91, UPI00002051DA
EMBL: AL138933, AL356488, BM726900
Ensembl: ENSG00000179902
KO: hsa:127003
Nucleutide sequences
Ensembl_TRS: ENST00000369948, ENST00000369949
Protein sequencees
Ensembl_PRO: ENSP00000358965, ENSP00000358964
RefSeq: NP_001116433.1, NP_001231954.1, NP_001353130.1, XP_011538949.1, XP_011538950.1, NP_001353129.1, NP_001353131.1
Others
UniRef100: UniRef100_Q5T5A4
UniRef90: UniRef90_Q5T5A4
UniRef50: UniRef50_Q5T5A4
UniGene: Hs.446962
CCDS: CCDS41364.1

全选

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