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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
Price 475.00
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Online offer: 441.65
441.65
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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 SPRY3 HCFC1 MIR6858 MIR1184-1 RAB39B TEX28 MTCP1 CH17-340M24.3 GAB3 FUNDC2 FAM50A PLXNA3 OPN1MW3 MPP1 MIR3202-2 ATP6AP1 SNORA56 CTAG2 HCFC1-AS1 VBP1 TMLHE OPN1MW2 TAZ FAM3A UBL4A LOC105373386 TMLHE-AS1 LOC101927830 F8A1 FAM223A TKTL1 IRAK1 FAM223B SLC10A3 H2AFB1 MIR1184-2 OPN1MW CTAG1A DKC1 SNORA36A TMEM187 LAGE3 LOC107987332 OPN1LW H2AFB2 BRCC3 F8 FLNA CMC4 RPL10 G6PD F8A3 CTAG1B H2AFB3 CLIC2 MIR1184-3 MIR3202-1 F8A2 MECP2 DNASE1L1 MIR664B SNORA70 GDI1 SMIM9 MIR718 IKBKG EMD
nsv519485 Chr.X:155507715 - 155699751 on Build GRCh38 Loss SPRY3 TMLHE
nsv520699 Chr.X:155545002 - 155699751 on Build GRCh38 Gain SPRY3 TMLHE
esv3575074 Chr.X:155534047 - 155546277 on Build GRCh38 Loss TMLHE
esv3575076 Chr.X:155542667 - 155550103 on Build GRCh38 Loss TMLHE
esv29972 Chr.X:154781072 - 155699751 on Build GRCh38 Gain SPRY3 CMC4 H2AFB1 MIR1184-2 F8A3 H2AFB3 CLIC2 MIR1184-1 MIR1184-3 VBP1 RAB39B F8A2 TMLHE H2AFB2 MTCP1 BRCC3 SMIM9 F8 TMLHE-AS1 LOC101927830 FUNDC2 F8A1 MPP1
esv2670601 Chr.X:155532618 - 155548599 on Build GRCh38 Deletion TMLHE

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