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

Chr.X:155547583 on build GRCh38
Cytoband
Xq28
Assay ID Hs04102098_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 LOC105373386 H2AFB2 F8A2 LOC107987332 F8A1 TMLHE UBL4A CTAG2 VBP1 TKTL1 MTCP1 SMIM9 CMC4 FAM3A LAGE3 MIR6858 MPP1 CH17-340M24.3 GDI1 GAB3 LOC101927830 EMD SNORA56 MIR664B CTAG1A DKC1 SNORA36A CLIC2 OPN1MW OPN1LW FAM223B MIR1184-2 BRCC3 H2AFB1 F8 MECP2 ATP6AP1 PLXNA3 OPN1MW2 TAZ TMLHE-AS1 IRAK1 FLNA G6PD FAM50A IKBKG OPN1MW3 MIR3202-1 RAB39B HCFC1-AS1 MIR718 SNORA70 MIR1184-1 SPRY3 DNASE1L1 RPL10 SLC10A3 MIR3202-2 H2AFB3 FUNDC2 F8A3 HCFC1 FAM223A MIR1184-3 CTAG1B TEX28 TMEM187
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
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain H2AFB2 F8A2 TMLHE-AS1 F8A1 TMLHE H2AFB3 FUNDC2 CLIC2 VBP1 F8A3 MTCP1 SMIM9 CMC4 MPP1 RAB39B MIR1184-2 BRCC3 LOC101927830 H2AFB1 MIR1184-1 MIR1184-3 F8 SPRY3
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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