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

Chr.X:155546412 on build GRCh38
Cytoband
Xq28
Assay ID Hs04096273_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 CTAG1B MIR3202-2 PLXNA3 TMLHE-AS1 MIR664B FLNA MIR1184-3 SMIM9 F8 FUNDC2 HCFC1 FAM3A CH17-340M24.3 TMLHE MIR1184-2 SNORA56 LAGE3 H2AFB2 DKC1 TMEM187 FAM223B CTAG1A MPP1 IKBKG EMD SPRY3 DNASE1L1 TAZ H2AFB1 OPN1MW2 GDI1 UBL4A ATP6AP1 LOC101927830 OPN1MW FAM50A OPN1MW3 CMC4 MIR1184-1 IRAK1 VBP1 BRCC3 MTCP1 CLIC2 TKTL1 MIR6858 F8A1 MIR3202-1 LOC107987332 SNORA70 RAB39B MIR718 MECP2 TEX28 F8A3 H2AFB3 G6PD SLC10A3 FAM223A CTAG2 HCFC1-AS1 SNORA36A RPL10 GAB3 OPN1LW F8A2
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 TMLHE MIR1184-2 CMC4 MIR1184-1 RAB39B H2AFB2 F8A3 H2AFB3 MPP1 VBP1 TMLHE-AS1 MIR1184-3 BRCC3 SMIM9 F8 MTCP1 SPRY3 FUNDC2 H2AFB1 CLIC2 F8A2 F8A1 LOC101927830
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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