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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 F8A2 OPN1MW3 MIR3202-2 CTAG2 DNASE1L1 CTAG1A IKBKG TMLHE G6PD H2AFB1 SPRY3 TKTL1 GAB3 RAB39B MIR3202-1 F8A1 SNORA36A H2AFB2 SLC10A3 TAZ FAM3A CTAG1B MIR718 TEX28 LOC107987332 HCFC1-AS1 FAM223B IRAK1 MIR1184-1 OPN1MW2 TMLHE-AS1 OPN1LW LOC101927830 TMEM187 FAM50A MIR1184-2 SNORA70 BRCC3 MPP1 ATP6AP1 OPN1MW CLIC2 LAGE3 LOC105373386 MIR664B CMC4 PLXNA3 UBL4A H2AFB3 DKC1 MTCP1 SNORA56 CH17-340M24.3 MIR6858 VBP1 EMD FAM223A MIR1184-3 FLNA MECP2 RPL10 SMIM9 FUNDC2 F8 F8A3 HCFC1 GDI1
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss TMLHE SPRY3
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain TMLHE SPRY3
esv3575076 Chr.X:155542667 - 155550103 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain F8A2 H2AFB2 MIR1184-2 BRCC3 TMLHE MPP1 H2AFB1 SPRY3 VBP1 CLIC2 MIR1184-3 CMC4 H2AFB3 RAB39B MIR1184-1 MTCP1 SMIM9 FUNDC2 F8A1 F8 TMLHE-AS1 F8A3 LOC101927830
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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