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

Chr.16:28843807 on build GRCh38
Cytoband
16p11.2
Assay ID Hs00460562_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 7284

Gene Name:

 Tu translation elongation factor, mitochondrial

Gene Aliases:

 COXPD4, EF-TuMT, EFTU, P43

Location:

 Chr.16:28842411-28859562 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 9 - Exon 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TUFM NM_003321.4 NP_003312.3
XM_011545928.2 XP_011544230.1
XM_017023619.1 XP_016879108.1
BC001633.1 AAH01633.2
BC010041.2 AAH10041.2
L38995.1 AAB00499.1
S75463.1 AAC60647.1
X84694.1 CAA59169.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv4987n54 Chr.16:28824884 - 29032129 on Build GRCh38 Gain SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
esv3638348 Chr.16:28841706 - 28861977 on Build GRCh38 Gain SH2B1 TUFM MIR4721
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss SH2B1 TUFM RABEP2 MIR6862-2 SULT1A2 MIR4721 NPIP SGF29 NFATC2IP NPIPB6 IL27 ATP2A1-AS1 NPIPB8 XPO6 NPIPB9 LAT SULT1A1 EIF3CL MIR6862-1 ATP2A1 CLN3 SBK1 EIF3C RRN3P2 CD19 LOC101928215 ATXN2L APOBR SPNS1 NUPR1 MIR4517
nsv518648 Chr.16:28826194 - 29032129 on Build GRCh38 Loss SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
dgv502e214 Chr.16:28841240 - 28861977 on Build GRCh38 Loss SH2B1 TUFM MIR4721
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain SH2B1 TUFM RABEP2 MIR6862-2 LOC107984832 SULT1A2 MIR4721 NPIP SGF29 NFATC2IP IL27 ATP2A1-AS1 NPIPB8 NPIPB9 LAT SULT1A1 EIF3CL MIR6862-1 ATP2A1 CLN3 EIF3C RRN3P2 CD19 LOC101928215 ATXN2L APOBR SPNS1 NUPR1 MIR4517
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss SH2B1 ATXN2L TUFM NFATC2IP SPNS1 RABEP2 ATP2A1 MIR4517 CD19 ATP2A1-AS1 MIR4721 LAT
nsv1064483 Chr.16:28620264 - 28857362 on Build GRCh38 Loss SH2B1 ATXN2L SULT1A1 TUFM MIR6862-2 EIF3C NPIPB8 MIR4721 NPIPB9

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