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

Chr.X:155545181 on build GRCh38
Cytoband
Xq28
Assay ID Hs01767221_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TMLHE NM_001184797.1 2 267 NP_001171726.1
NM_018196.3 2 267 NP_060666.1
XM_011531182.2 XP_011529484.1
XM_017029620.1 2 267 XP_016885109.1
AF373407.1 2 138 AAL01871.1
AK001589.1 2 242 BAA91775.1
AK291694.1 2 205
BC025269.1 2 183 AAH25269.1
CR457265.1 1 96 CAG33546.1
DA323339.1 2 263
DB174485.1 2 270

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 IKBKG LOC105373386 MIR718 TMLHE MIR1184-3 F8A2 F8 CTAG1B MIR664B FAM223A HCFC1-AS1 SNORA36A TAZ GAB3 TMEM187 VBP1 OPN1MW CLIC2 OPN1LW CH17-340M24.3 MIR6858 DNASE1L1 CTAG2 CMC4 MIR3202-1 SLC10A3 FAM50A GDI1 H2AFB1 LOC107987332 LAGE3 SNORA56 TKTL1 RAB39B F8A3 BRCC3 SNORA70 MIR1184-1 UBL4A OPN1MW2 SMIM9 MIR3202-2 F8A1 OPN1MW3 H2AFB2 MIR1184-2 TMLHE-AS1 MTCP1 FUNDC2 LOC101927830 ATP6AP1 SPRY3 DKC1 G6PD HCFC1 CTAG1A FLNA FAM223B TEX28 EMD PLXNA3 MECP2 IRAK1 MPP1 FAM3A H2AFB3 RPL10
nsv818043 Chr.X:155507715 - 155547903 on Build GRCh38 Gain TMLHE
nsv438162 Chr.X:155545002 - 155547903 on Build GRCh38 Loss TMLHE
esv3575074 Chr.X:155534047 - 155546277 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain H2AFB1 TMLHE MIR1184-3 F8A2 RAB39B CLIC2 F8A3 BRCC3 MIR1184-1 F8 SMIM9 F8A1 CMC4 MPP1 H2AFB2 MIR1184-2 TMLHE-AS1 H2AFB3 MTCP1 VBP1 FUNDC2 LOC101927830 SPRY3
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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