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

Chr.X:155560106 on build GRCh38
Cytoband
Xq28
Assay ID Hs04102514_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 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
nsv510869 Chr.X:155552481 - 155600316 on Build GRCh38 Deletion TMLHE
esv33784 Chr.X:153962665 - 155699588 on Build GRCh38 Gain+Loss PLXNA3 FUNDC2 F8A2 TKTL1 MIR1184-3 OPN1MW3 TAZ FLNA LOC101927830 FAM50A MIR6858 LOC105373386 CTAG1A DKC1 H2AFB2 GAB3 MIR3202-1 IKBKG MIR718 MECP2 OPN1LW F8A1 UBL4A HCFC1 SLC10A3 SMIM9 FAM223A CTAG1B F8A3 SPRY3 F8 HCFC1-AS1 ATP6AP1 H2AFB1 MIR3202-2 VBP1 LOC107987332 MPP1 MTCP1 DNASE1L1 CTAG2 H2AFB3 TMLHE RAB39B G6PD FAM3A CLIC2 CMC4 RPL10 CH17-340M24.3 MIR1184-1 SNORA36A TMLHE-AS1 OPN1MW2 MIR1184-2 MIR664B LAGE3 SNORA56 BRCC3 TMEM187 SNORA70 EMD OPN1MW TEX28 GDI1 IRAK1 FAM223B
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain SPRY3 TMLHE
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
nsv511652 Chr.X:155551462 - 155586778 on Build GRCh38 Loss TMLHE
esv3575078 Chr.X:155556315 - 155574027 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain MPP1 FUNDC2 H2AFB2 CMC4 F8A2 MIR1184-3 MTCP1 MIR1184-1 H2AFB3 TMLHE RAB39B TMLHE-AS1 F8A1 MIR1184-2 LOC101927830 SMIM9 BRCC3 F8A3 SPRY3 CLIC2 F8 H2AFB1 VBP1
esv1007887 Chr.X:155560007 - 155573754 on Build GRCh38 Deletion TMLHE
esv24821 Chr.X:155552998 - 155574053 on Build GRCh38 Gain+Loss TMLHE

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