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

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