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6607 SMN2

6607

SMN2

survival of motor neuron 2, centromeric

protein-coding

Homo sapiens

基因描述

Type Description
Definition survival of motor neuron 2, centromeric

研究结论

Date Results Publications
2021-02-13 13:21:00 New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? 32392694
2020-12-26 13:13:00 Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. 32067433
2020-11-21 13:29:00 Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? 32144995
2020-10-03 12:56:00 Drosophila SMN2 minigene reporter model identifies moxifloxacin as a candidate therapy for SMA. 31909520
2020-04-04 12:31:00 No difference was found in the carrier frequency of spinal muscular atrophy-related mutations in SMN1 and SMN2 between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern 32219818

名称对应

Type IDs
Synonymous BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
Gene
UniProtKB-ID: SMN_HUMAN, B4DP61_HUMAN, E7EQZ4_HUMAN
UniprotKB: Q16637, B4DP61, E7EQZ4
UniParc: UPI0000D4DD69, UPI00000000BB, UPI000002B3D8, UPI000002B3D7, UPI000002B3D9, UPI00017A77DF
EMBL: U43877, AC244260, U43882, AK298203, U21914, AC244635, U43880, BC000908, AK289669, AC005031, AC140134, U43876, U43878, AC044797, U43883, U43881, BC070242, BC062723, BC015308, AC139494, AC004999, U80017, U18423, AC139834
Ensembl: ENSG00000277773, ENSG00000172062, ENSG00000205571, ENSG00000275349, ENSG00000273772
KO: hsa:6607, hsa:6606
Nucleutide sequences
EMBL-CDS: AAC83178.1, AAH62723.1, AAH15308.1, AAC50473.1, AAH70242.1, AAA64505.1, AAA66242.1, BAF82358.1, AAC52048.1, AAC62262.1, AAH00908.1, BAG60473.1
Ensembl_TRS: ENST00000629122, ENST00000628353, ENST00000626847, ENST00000611442, ENST00000380742, ENST00000506163, ENST00000503079, ENST00000614610, ENST00000628642, ENST00000627341, ENST00000622739, ENST00000614773, ENST00000624634, ENST00000380741, ENST00000380743, ENST00000618251, ENST00000351205, ENST00000614240, ENST00000380707, ENST00000618661, ENST00000622158, ENST00000514951, ENST00000631131, ENST00000511812, ENST00000625687, ENST00000619658, ENST00000506734, ENST00000625245, ENST00000610814, ENST00000612446, ENST00000506239, ENST00000631104, ENST00000612974, ENST00000628696, ENST00000629741
Protein sequencees
Ensembl_PRO: ENSP00000370083, ENSP00000424926, ENSP00000370118, ENSP00000370117, ENSP00000483515, ENSP00000485595, ENSP00000483768, ENSP00000480906, ENSP00000487421, ENSP00000482966, ENSP00000481427, ENSP00000479279, ENSP00000428128, ENSP00000486152, ENSP00000487206, ENSP00000370119, ENSP00000483819, ENSP00000487029, ENSP00000479920, ENSP00000487015, ENSP00000305857, ENSP00000423298, ENSP00000478583, ENSP00000486922, ENSP00000487289, ENSP00000424282, ENSP00000486268, ENSP00000424799, ENSP00000477738, ENSP00000485830, ENSP00000477720, ENSP00000486030, ENSP00000478274, ENSP00000422679, ENSP00000486539
RefSeq: XP_016865276.1, XP_011541902.1, XP_011541903.1, XP_011541901.1, XP_011541904.1, NP_075014.1, NP_059107.1, XP_011541905.1, NP_075015.1, NP_075013.1
Others
UniRef100: UniRef100_B4DP61, UniRef100_E7EQZ4, UniRef100_Q16637
UniRef90: UniRef90_A0A2I3HNG7, UniRef90_Q16637
UniRef50: UniRef50_Q16637, UniRef50_A0A2K5E5X4
UniGene: Hs.202179
CCDS: CCDS54867.1, CCDS34181.1, CCDS4008.1, CCDS75256.1, CCDS4007.1, CCDS34182.1

全选

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