1. Analytes
  2. SPTLC3

SPTLC3

Analyte Export to PDF
Name:
serine palmitoyltransferase long chain base subunit 3
Symbol:
SPTLC3
XREF(s):
OMIM
HGNC
ORPHANET
Created:
12 Jul 2021 - 16:05
Changed:
12 Jul 2021 - 16:05
  • Neuropathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.94 1
    ABCA1 99.92 1
    ABHD12 99.11 1
    ADPRS 100.00 1
    AGTPBP1 99.40 1
    AIFM1 99.43 1
    ARHGEF10 100.00 1
    ARSA 100.00 1
    ATL1 99.95 1
    ATL3 99.86 1
    ATM 99.83 1
    ATP1A1 99.94 1
    ATP7A 99.35 1
    B4GALNT1 99.95 1
    BAG3 100.00 1
    BICD2 100.00 1
    BSCL2 100.00 1
    CADM3 99.94 1
    CD59 99.97 1
    CFAP276 99.73 1
    CHCHD10 97.06 1
    CLTCL1 99.98 1
    CNTNAP1 99.80 1
    COA7 100.00 1
    COX20 99.40 1
    COX6A1 99.99 1
    CTDP1 98.02 1
    CTNNB1 99.98 1
    CYP27A1 99.96 1
    DARS2 99.86 1
    DCAF8 99.98 1
    DCTN1 99.95 1
    DGAT2 99.99 1
    DGUOK 99.76 1
    DHTKD1 99.88 1
    DNAJB2 100.00 1
    DNAJC3 99.58 1
    DNM2 99.96 1
    DNMT1 99.88 1
    DRP2 99.45 1
    DST 99.92 1
    DYNC1H1 99.97 1
    EGR2 100.00 1
    ELP1 99.96 1
    ETFDH 99.76 1
    FBLN5 92.79 1
    FBXO38 99.93 1
    FGD4 99.89 1
    FIG4 99.94 1
    FLVCR1 99.93 1
    FXN 97.92 1
    GALC 99.88 1
    GAN 99.84 1
    GARS1 99.86 1
    GBA2 99.97 1
    GBE1 99.84 1
    GBF1 99.95 1
    GDAP1 99.93 1
    GJB1 99.99 1
    GJB3 100.00 1
    GJC2 96.12 1
    GLA 99.64 1
    GNB4 99.95 1
    GSN 97.83 1
    HADHA 99.96 1
    HADHB 99.97 1
    HARS1 99.99 1
    HINT1 99.96 1
    HK1 96.86 1
    HNRNPA1 100.00 1
    HOXD10 100.00 1
    HSPB1 99.83 1
    HSPB3 100.00 1
    HSPB8 99.90 1
    IARS2 99.96 1
    IFRD1 99.96 1
    IGHMBP2 99.99 1
    INF2 97.15 1
    ITPR3 99.88 1
    JAG1 99.92 1
    KIF1A 99.96 1
    KIF5A 99.93 1
    LITAF 100.00 1
    LMNA 99.98 1
    LRSAM1 99.97 1
    LYST 99.92 1
    MCM3AP 99.96 1
    MFN2 99.96 1
    MMACHC 99.99 1
    MME 97.69 1
    MORC2 99.98 1
    MPV17 100.00 1
    MPZ 99.97 1
    MTMR2 99.98 1
    MTRFR 99.85 1
    MYH14 99.79 1
    NAGA 99.99 1
    NAGLU 98.00 1
    NARS1 99.74 1
    NDRG1 100.00 1
    NEFH 98.77 1
    NEFL 99.99 1
    NGF 99.99 1
    NTRK1 99.67 1
    PCYT2 97.60 1
    PDK3 98.86 1
    PEX7 99.87 1
    PHYH 99.65 1
    PIEZO2 99.88 1
    PLD3 99.99 1
    PLEKHG5 99.66 1
    PLP1 99.93 1
    PMM2 99.94 1
    PMP2 99.95 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    POLG 99.98 1
    POLR3B 99.88 1
    PPOX 99.94 1
    PRDM12 99.60 1
    PRKCG 99.90 1
    PRNP 100.00 1
    PRPS1 99.79 1
    PRX 99.94 1
    PTEN 99.15 1
    PTPN11 99.91 1
    PTRH2 99.97 1
    RAB7A 99.94 1
    REEP1 99.99 1
    RETREG1 99.92 1
    RFC1 99.44 1
    SACS 99.98 1
    SBF1 99.97 1
    SBF2 99.92 1
    SCARB2 99.94 1
    SCN10A 99.97 1
    SCN11A 99.77 1
    SCN9A 99.96 1
    SCO2 100.00 1
    SCYL1 99.64 1
    SEPTIN9 99.94 1
    SETX 99.96 1
    SH3TC2 99.98 1
    SIGMAR1 99.99 1
    SLC12A6 99.88 1
    SLC25A19 99.99 1
    SLC25A46 99.93 1
    SLC52A2 100.00 1
    SLC52A3 100.00 1
    SLC5A7 99.97 1
    SORD 92.86 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 99.94 1
    SPG7 99.99 1
    SPTAN1 99.97 1
    SPTBN4 99.19 1
    SPTLC1 99.98 1
    SPTLC2 99.94 1
    SPTLC3 99.94 1
    SURF1 97.64 1
    SYT2 99.89 1
    TBCE 99.69 1
    TBCK 99.76 1
    TECPR2 99.90 1
    TFG 99.34 1
    TRIM2 99.99 1
    TRPV4 99.96 1
    TTPA 99.97 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UCHL1 99.99 1
    VAPB 99.94 1
    VCP 99.92 1
    VPS13A 99.60 1
    VRK1 99.94 1
    VWA1 91.35 1
    WARS1 99.79 1
    WNK1 99.94 1
    XRCC1 99.94 1
    YARS1 99.96 1
    ZFHX2 99.98 1
    ZFYVE26 99.96 1