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

Chr.16:28849044 on build GRCh38
Cytoband
16p11.2
Assay ID Hs05438855_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 ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
esv3638348 Chr.16:28841706 - 28861977 on Build GRCh38 Gain MIR4721 TUFM SH2B1
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss LAT NUPR1 EIF3CL NPIPB8 EIF3C SULT1A2 TUFM SH2B1 ATP2A1 CLN3 NFATC2IP RRN3P2 RABEP2 MIR4517 MIR6862-1 IL27 CD19 LOC101928215 SULT1A1 SBK1 SPNS1 XPO6 MIR4721 ATXN2L NPIPB6 MIR6862-2 APOBR ATP2A1-AS1 NPIPB9 NPIP SGF29
nsv519100 Chr.16:28826194 - 29032129 on Build GRCh38 Gain ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain LAT NUPR1 EIF3CL NPIPB8 EIF3C SULT1A2 TUFM SH2B1 ATP2A1 CLN3 NFATC2IP RRN3P2 RABEP2 MIR4517 MIR6862-1 IL27 CD19 LOC101928215 SULT1A1 SPNS1 MIR4721 LOC107984832 ATXN2L MIR6862-2 APOBR ATP2A1-AS1 NPIPB9 NPIP SGF29
dgv502e214 Chr.16:28841240 - 28861977 on Build GRCh38 Loss MIR4721 TUFM SH2B1
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss ATP2A1 LAT SPNS1 NFATC2IP ATP2A1-AS1 RABEP2 MIR4721 MIR4517 CD19 ATXN2L TUFM SH2B1
dgv2830n100 Chr.16:28620264 - 29032542 on Build GRCh38 Gain SULT1A1 LAT SPNS1 NPIPB8 MIR4721 EIF3C ATXN2L TUFM SH2B1 ATP2A1 MIR6862-2 NFATC2IP ATP2A1-AS1 RABEP2 NPIPB9 MIR4517 CD19

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