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

Chr.X:155544869 on build GRCh38
Cytoband
Xq28
Assay ID Hs04117034_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 2
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_011531182.2 XP_011529484.1
XM_017029620.1 XP_016885109.1
AF373407.1 AAL01871.1
AK001589.1 BAA91775.1
AK291694.1
BC025269.1 AAH25269.1
CR457265.1 CAG33546.1
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 HCFC1 F8A3 G6PD SPRY3 TMLHE ATP6AP1 CH17-340M24.3 MIR1184-3 MIR6858 IKBKG LOC107987332 OPN1MW3 TMLHE-AS1 UBL4A VBP1 TAZ SMIM9 H2AFB1 MIR1184-1 RAB39B MIR3202-1 LAGE3 TEX28 OPN1MW2 MECP2 DNASE1L1 FLNA GAB3 CTAG1B TKTL1 CTAG1A MIR718 PLXNA3 SNORA70 HCFC1-AS1 EMD CTAG2 IRAK1 MIR664B LOC101927830 FAM223B F8 SNORA36A MPP1 H2AFB3 F8A2 OPN1LW FAM223A LOC105373386 CMC4 MIR3202-2 FAM50A GDI1 DKC1 FAM3A MIR1184-2 BRCC3 MTCP1 SNORA56 SLC10A3 RPL10 F8A1 OPN1MW H2AFB2 FUNDC2 CLIC2 TMEM187
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
esv3575074 Chr.X:155534047 - 155546277 on Build GRCh38 Loss TMLHE
esv3575076 Chr.X:155542667 - 155550103 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain TMLHE-AS1 VBP1 F8A3 SMIM9 H2AFB1 SPRY3 MIR1184-1 TMLHE MIR1184-2 BRCC3 MTCP1 RAB39B LOC101927830 MIR1184-3 F8A1 F8 H2AFB2 MPP1 H2AFB3 F8A2 FUNDC2 CLIC2 CMC4
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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