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

Chr.X:155547982 on build GRCh38
Cytoband
Xq28
Assay ID Hs04521203_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 MIR3202-2 FAM223B CLIC2 LOC101927830 FUNDC2 MIR6858 DKC1 TAZ H2AFB2 SNORA36A CMC4 ATP6AP1 UBL4A MIR1184-2 HCFC1-AS1 CH17-340M24.3 F8A3 G6PD MPP1 OPN1MW2 FAM3A RPL10 LOC105373386 IKBKG SNORA56 VBP1 SNORA70 RAB39B IRAK1 FLNA TKTL1 SMIM9 BRCC3 OPN1LW FAM223A CTAG1A DNASE1L1 F8A1 CTAG1B OPN1MW LAGE3 OPN1MW3 HCFC1 SPRY3 GAB3 H2AFB3 MIR718 MIR1184-3 CTAG2 MIR3202-1 TMLHE-AS1 FAM50A F8A2 MTCP1 F8 MIR1184-1 MECP2 GDI1 EMD SLC10A3 TMEM187 H2AFB1 TEX28 MIR664B LOC107987332 TMLHE PLXNA3
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain SPRY3 TMLHE
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain F8A2 MPP1 MTCP1 F8 F8A1 MIR1184-1 CLIC2 LOC101927830 FUNDC2 SPRY3 H2AFB3 VBP1 H2AFB2 H2AFB1 RAB39B CMC4 SMIM9 MIR1184-3 MIR1184-2 TMLHE BRCC3 F8A3 TMLHE-AS1
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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