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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
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss TMLHE SPRY3
esv3559518 Chr.X:155552011 - 155558019 on Build GRCh38 Deletion 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 F8A1 MTCP1 FUNDC2 SMIM9 MIR1184-1 SPRY3 MPP1 F8A2 H2AFB1 LOC101927830 F8A3 CLIC2 TMLHE H2AFB3 TMLHE-AS1 VBP1 BRCC3 H2AFB2 MIR1184-3 F8 CMC4 RAB39B MIR1184-2
esv24821 Chr.X:155552998 - 155574053 on Build GRCh38 Gain+Loss TMLHE
esv33784 Chr.X:153962665 - 155699588 on Build GRCh38 Gain+Loss F8A1 MIR3202-2 TEX28 MIR1184-1 F8A2 GDI1 LOC107987332 TMLHE H2AFB3 MIR3202-1 TKTL1 CTAG2 F8 CMC4 G6PD HCFC1 TMEM187 FAM50A FUNDC2 MECP2 SNORA36A MPP1 H2AFB1 LOC101927830 OPN1LW UBL4A BRCC3 H2AFB2 CTAG1B FAM3A GAB3 MIR664B OPN1MW2 SNORA70 ATP6AP1 FAM223A TAZ SLC10A3 SPRY3 HCFC1-AS1 F8A3 CLIC2 DKC1 TMLHE-AS1 EMD MIR1184-3 CH17-340M24.3 MIR1184-2 MTCP1 SNORA56 DNASE1L1 FLNA SMIM9 LAGE3 LOC105373386 IKBKG OPN1MW MIR718 IRAK1 RPL10 MIR6858 PLXNA3 FAM223B VBP1 OPN1MW3 CTAG1A RAB39B
dgv2551e212 Chr.X:155549823 - 155556104 on Build GRCh38 Loss TMLHE
esv3575071 Chr.X:155553385 - 155557772 on Build GRCh38 Loss TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain TMLHE SPRY3
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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