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

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