Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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serine palmitoyltransferase, long chain base subunit 1


Symbol SPTLC1
Aliases LCB1, LBC1, SPTI, SPT1, HSNI, HSAN
Location 9q21.31
GDB Entry 9957656
OMIM Citation 605712
cDNA Sequence NM_006415 ; Y08685 ;
Protein Sequence SwissProt O15269;
NCBI PID 5454084
Entrez Gene 10558
SPTLC1 Mutations


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