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See other TMLHE CNV Assays ›
Gene Symbol
TMLHE
Assay Reference Genome
Location

Chr.X:155545981 on build GRCh38
Cytoband
Xq28
Assay ID Hs04123727_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 55217

Gene Name:

 trimethyllysine hydroxylase, epsilon

Gene Aliases:

 AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130

Location:

 Chr.X:155489007-155612961 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TMLHE NM_001184797.1 NP_001171726.1
NM_018196.3 NP_060666.1
XM_017029620.1 XP_016885109.1
AF373407.1 AAL01871.1
AK001589.1 BAA91775.1
AK291694.1
BC025269.1 AAH25269.1
DA323339.1
DB174485.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv33784 Chr.X:153962665 - 155699588 on Build GRCh38 Gain+Loss FAM223A MIR1184-2 IRAK1 SNORA70 CMC4 OPN1MW SNORA56 G6PD CTAG1A H2AFB2 UBL4A MIR1184-1 HCFC1-AS1 MIR664B EMD CH17-340M24.3 TMEM187 PLXNA3 CTAG2 LOC105373386 ATP6AP1 TMLHE-AS1 FAM3A RAB39B LAGE3 SNORA36A GDI1 H2AFB3 F8A2 OPN1MW3 HCFC1 DNASE1L1 FAM223B IKBKG RPL10 TMLHE CTAG1B DKC1 MIR3202-1 OPN1MW2 F8A3 MTCP1 SMIM9 CLIC2 LOC101927830 MECP2 BRCC3 OPN1LW FAM50A H2AFB1 MIR6858 LOC107987332 MIR718 MPP1 TAZ SPRY3 TEX28 MIR3202-2 MIR1184-3 FLNA FUNDC2 GAB3 VBP1 SLC10A3 F8A1 TKTL1 F8
nsv818043 Chr.X:155507715 - 155547903 on Build GRCh38 Gain TMLHE
nsv438162 Chr.X:155545002 - 155547903 on Build GRCh38 Loss TMLHE
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
esv3575074 Chr.X:155534047 - 155546277 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain MIR1184-2 F8A3 TMLHE-AS1 MTCP1 RAB39B CMC4 MPP1 SPRY3 SMIM9 CLIC2 MIR1184-3 FUNDC2 LOC101927830 VBP1 BRCC3 H2AFB3 F8A2 H2AFB2 H2AFB1 MIR1184-1 F8A1 F8 TMLHE
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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