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See other SH2B1 CNV Assays ›
Gene Symbol
SH2B1
Assay Reference Genome
Location

Chr.16:28856945 on build GRCh38
Cytoband
16p11.2
Assay ID Hs05445016_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 25970

Gene Name:

 SH2B adaptor protein 1

Gene Aliases:

 PSM, SH2B

Location:

 Chr.16:28846600-28874213 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SH2B1 NM_001308293.1 NP_001295222.1
XM_017023115.1 XP_016878604.1
AK055104.1
DA338190.1

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:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TUFM XM_017023619.1 XP_016879108.1

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 SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
esv3638348 Chr.16:28841706 - 28861977 on Build GRCh38 Gain TUFM SH2B1 MIR4721
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss ATP2A1 TUFM RRN3P2 MIR6862-1 EIF3C NUPR1 RABEP2 NPIP CLN3 SGF29 MIR6862-2 NPIPB9 MIR4721 SULT1A2 SBK1 ATP2A1-AS1 SULT1A1 NFATC2IP EIF3CL MIR4517 LOC101928215 IL27 ATXN2L NPIPB8 XPO6 CD19 SPNS1 NPIPB6 SH2B1 LAT APOBR
nsv519100 Chr.16:28826194 - 29032129 on Build GRCh38 Gain SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain ATP2A1 TUFM RRN3P2 MIR6862-1 EIF3C LOC107984832 NUPR1 RABEP2 NPIP CLN3 SGF29 MIR6862-2 NPIPB9 MIR4721 SULT1A2 ATP2A1-AS1 SULT1A1 NFATC2IP EIF3CL MIR4517 LOC101928215 IL27 ATXN2L NPIPB8 CD19 SPNS1 SH2B1 LAT APOBR
dgv502e214 Chr.16:28841240 - 28861977 on Build GRCh38 Loss TUFM SH2B1 MIR4721
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss SPNS1 ATP2A1-AS1 ATP2A1 TUFM NFATC2IP SH2B1 MIR4517 LAT RABEP2 ATXN2L CD19 MIR4721
dgv2830n100 Chr.16:28620264 - 29032542 on Build GRCh38 Gain ATP2A1-AS1 ATP2A1 SULT1A1 TUFM NFATC2IP MIR4517 ATXN2L NPIPB8 CD19 SPNS1 EIF3C SH2B1 LAT RABEP2 MIR6862-2 NPIPB9 MIR4721

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