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

Chr.X:155553923 on build GRCh38
Cytoband
Xq28
Assay ID Hs04101199_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
esv2669858 Chr.X:155551997 - 155558116 on Build GRCh38 Deletion TMLHE
esv3559518 Chr.X:155552011 - 155558019 on Build GRCh38 Deletion TMLHE
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
nsv7162 Chr.X:155545842 - 155591711 on Build GRCh38 Deletion TMLHE
esv2665236 Chr.X:155551519 - 155556252 on Build GRCh38 Deletion TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain MIR1184-3 SPRY3 F8A1 MPP1 F8 H2AFB1 CMC4 RAB39B MIR1184-2 MIR1184-1 H2AFB3 CLIC2 BRCC3 VBP1 LOC101927830 FUNDC2 MTCP1 F8A3 SMIM9 F8A2 TMLHE-AS1 H2AFB2 TMLHE
esv24821 Chr.X:155552998 - 155574053 on Build GRCh38 Gain+Loss TMLHE
esv33784 Chr.X:153962665 - 155699588 on Build GRCh38 Gain+Loss MIR1184-3 TAZ SPRY3 HCFC1-AS1 HCFC1 MECP2 F8 UBL4A G6PD H2AFB3 CLIC2 CH17-340M24.3 EMD OPN1LW LOC101927830 FUNDC2 ATP6AP1 F8A3 MIR718 TMLHE-AS1 H2AFB2 F8A1 GAB3 SLC10A3 LAGE3 IRAK1 LOC107987332 SNORA56 CTAG1B GDI1 TKTL1 MIR6858 LOC105373386 MIR3202-2 OPN1MW3 DKC1 TMLHE MPP1 CMC4 RAB39B MIR1184-2 FLNA MIR1184-1 TEX28 SNORA36A FAM223A VBP1 MTCP1 SMIM9 F8A2 FAM223B IKBKG DNASE1L1 FAM50A MIR664B H2AFB1 SNORA70 RPL10 MIR3202-1 OPN1MW OPN1MW2 BRCC3 FAM3A PLXNA3 TMEM187 CTAG1A CTAG2
esv3575071 Chr.X:155553385 - 155557772 on Build GRCh38 Loss TMLHE
dgv2551e212 Chr.X:155549823 - 155556104 on Build GRCh38 Loss TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain SPRY3 TMLHE
nsv511652 Chr.X:155551462 - 155586778 on Build GRCh38 Loss TMLHE
esv3559517 Chr.X:155548340 - 155555616 on Build GRCh38 Deletion TMLHE
dgv2550e212 Chr.X:155542667 - 155556104 on Build GRCh38 Loss TMLHE

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