Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 6, - Nucleotide

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PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. [Invest Ophthalmol Vis Sci. 2024]
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Daich Varela M, Schiff E, Malka S, Wright G, Mahroo OA, Webster AR, Michaelides M, Arno G. Invest Ophthalmol Vis Sci. 2024 Feb 1; 65(2):38.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. [Nat Commun. 2022]
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Havugimana PC, Goel RK, Phanse S, Youssef A, Padhorny D, Kotelnikov S, Kozakov D, Emili A. Nat Commun. 2022 Jul 13; 13(1):4043. Epub 2022 Jul 13.
A proximity-dependent biotinylation map of a human cell. [Nature. 2021]
A proximity-dependent biotinylation map of a human cell.
Go CD, Knight JDR, Rajasekharan A, Rathod B, Hesketh GG, Abe KT, Youn JY, Samavarchi-Tehrani P, Zhang H, Zhu LY, et al. Nature. 2021 Jul; 595(7865):120-124. Epub 2021 Jun 2.

RefSeq alternative splicing
See 6 reference mRNA sequence splice variants for the PHYH gene.
RefSeq protein product
See the reference protein sequence for phytanoyl-CoA dioxygenase, peroxisomal isoform e (NP_001310013.1).

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Protein sequence from Nucleotide coding region
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Chromosome neighbors for GEO Profiles (Select 123951994) (20)
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SPEF1 sperm flagellar 1 [Homo sapiens]
SPEF1 sperm flagellar 1 [Homo sapiens]
Gene ID:25876

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Nucleotide