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

Chr.X:155566142 on build GRCh38
Cytoband
Xq28
Assay ID Hs04116576_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
nsv510869 Chr.X:155552481 - 155600316 on Build GRCh38 Deletion TMLHE
nsv953711 Chr.X:155560540 - 155573939 on Build GRCh38 Deletion TMLHE
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
esv3559520 Chr.X:155560340 - 155573872 on Build GRCh38 Deletion TMLHE
nsv512705 Chr.X:155560384 - 155574125 on Build GRCh38 Loss TMLHE
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
esv3575078 Chr.X:155556315 - 155574027 on Build GRCh38 Loss TMLHE
nsv820472 Chr.X:155560367 - 155567918 on Build GRCh38 Deletion TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain SPRY3 MIR1184-2 RAB39B BRCC3 H2AFB2 MIR1184-3 VBP1 TMLHE-AS1 F8 CMC4 F8A2 MTCP1 TMLHE FUNDC2 H2AFB3 F8A1 CLIC2 H2AFB1 MIR1184-1 MPP1 F8A3 SMIM9 LOC101927830
esv24821 Chr.X:155552998 - 155574053 on Build GRCh38 Gain+Loss TMLHE
nsv829420 Chr.X:155563604 - 155567654 on Build GRCh38 Loss TMLHE
nsv515187 Chr.X:155563801 - 155567513 on Build GRCh38 Loss TMLHE
esv33784 Chr.X:153962665 - 155699588 on Build GRCh38 Gain+Loss SPRY3 ATP6AP1 GDI1 RPL10 FUNDC2 MIR718 CH17-340M24.3 TAZ CLIC2 OPN1LW MPP1 UBL4A FAM223A MIR664B DNASE1L1 MECP2 CTAG1A LOC101927830 BRCC3 OPN1MW3 HCFC1-AS1 G6PD MIR1184-3 MIR3202-2 LOC107987332 SNORA70 SNORA56 GAB3 MIR1184-1 SMIM9 MIR3202-1 IKBKG LOC105373386 H2AFB2 MIR6858 PLXNA3 F8 FLNA HCFC1 SLC10A3 CMC4 F8A2 MTCP1 TMLHE F8A1 SNORA36A IRAK1 TEX28 OPN1MW2 MIR1184-2 RAB39B EMD LAGE3 VBP1 TMEM187 FAM50A FAM3A TMLHE-AS1 OPN1MW TKTL1 H2AFB3 FAM223B H2AFB1 CTAG1B DKC1 CTAG2 F8A3
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain SPRY3 TMLHE
nsv511652 Chr.X:155551462 - 155586778 on Build GRCh38 Loss TMLHE
esv2994901 Chr.X:155560339 - 155568339 on Build GRCh38 Deletion TMLHE
esv1007887 Chr.X:155560007 - 155573754 on Build GRCh38 Deletion TMLHE
esv2659146 Chr.X:155560528 - 155573651 on Build GRCh38 Deletion TMLHE
nsv1137701 Chr.X:155560539 - 155569939 on Build GRCh38 Deletion TMLHE

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