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6331 SCN5A

6331

SCN5A

sodium voltage-gated channel alpha subunit 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition sodium voltage-gated channel alpha subunit 5

研究结论

Date Results Publications
2021-04-13 10:14:00 Relationship between SCN5A gene H558R polymorphism and atrial fibrillation in Tibetan and Han nationalities at high altitude. 33761712
2021-02-27 13:48:00 Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic? 32998306
2021-02-20 13:30:00 Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome. 32824506
2021-02-06 13:56:00 Voltage-dependent activation of Rac1 by Nav 1.5 channels promotes cell migration. 31612502
2021-02-06 13:49:00 Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing. 31696929

名称对应

Type IDs
Synonymous CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Gene
UniProtKB-ID: SCN5A_HUMAN, A0A0A0MT39_HUMAN, Q86V90_HUMAN, E9PG18_HUMAN, H9KVD2_HUMAN, K4DIA1_HUMAN, E9PHB6_HUMAN
UniprotKB: Q14524, A0A0A0MT39, Q86V90, E9PG18, H9KVD2, K4DIA1, E9PHB6
UniParc: UPI0001E8F59F, UPI00001D6F27, UPI0001572CC8, UPI0001A51BB1, UPI0000074136, UPI0001A51BB0, UPI00001969C3, UPI0001A47191, UPI0001A47190, UPI0001572CC9, UPI0001A51BB3, UPI0001A51BB2
EMBL: AB158469, BC051374, AY148488, AB158470, AY038064, AP006241, DQ784809, AB208866, M77235, BC144621, EF629347, EF179185, EF629346, AF482988, BC140813
Ensembl: ENSG00000183873
KO: hsa:6331
Nucleutide sequences
EMBL-CDS: AAA58644.1, AAN61120.1, BAD12084.1, AAK74065.1, AAI44622.1, ABR15763.1, BAD12085.1, BAD92103.1, AAO91669.1, ABN05288.1, ABQ01244.1, AAI40814.1, ABR15764.1, AAH51374.1
Ensembl_TRS: ENST00000333535, ENST00000423572, ENST00000449557, ENST00000414099, ENST00000413689, ENST00000450102, ENST00000455624
Protein sequencees
Ensembl_PRO: ENSP00000328968, ENSP00000398266, ENSP00000413996, ENSP00000398962, ENSP00000410257, ENSP00000403355, ENSP00000399524
RefSeq: NP_000326.2, NP_001341630.1, NP_001153633.1, XP_016862506.1, XP_011532293.1, NP_001092875.1, NP_932173.1, NP_001153632.1, NP_001092874.1
Others
UniRef100: UniRef100_Q86V90, UniRef100_K4DIA1, UniRef100_E9PG18, UniRef100_Q14524, UniRef100_A0A0A0MT39, UniRef100_E9PHB6, UniRef100_H9KVD2
UniRef90: UniRef90_E9PG18, UniRef90_E9PHB6, UniRef90_Q14524, UniRef90_A0A2I3LLX5
UniRef50: UniRef50_Q14524, UniRef50_A0A2I3LLX5
UniGene: Hs.517898
CCDS: CCDS46797.1, CCDS54570.1, CCDS46798.1, CCDS46796.1, CCDS54569.1, CCDS46799.1

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