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

Chr.16:28850030 on build GRCh38
Cytoband
16p11.2
Assay ID Hs05442237_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 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
esv3638348 Chr.16:28841706 - 28861977 on Build GRCh38 Gain SH2B1 TUFM MIR4721
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss SBK1 SPNS1 NPIPB9 SULT1A1 EIF3CL XPO6 IL27 NFATC2IP CD19 LAT MIR4517 MIR6862-1 CLN3 NPIPB6 EIF3C SULT1A2 TUFM MIR4721 ATP2A1 ATXN2L RABEP2 NUPR1 SH2B1 RRN3P2 NPIP MIR6862-2 NPIPB8 APOBR SGF29 LOC101928215 ATP2A1-AS1
nsv518648 Chr.16:28826194 - 29032129 on Build GRCh38 Loss SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
dgv502e214 Chr.16:28841240 - 28861977 on Build GRCh38 Loss SH2B1 TUFM MIR4721
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain SPNS1 NPIPB9 SULT1A1 EIF3CL IL27 NFATC2IP CD19 LAT MIR4517 MIR6862-1 CLN3 EIF3C SULT1A2 TUFM MIR4721 ATP2A1 ATXN2L RABEP2 NUPR1 SH2B1 RRN3P2 LOC107984832 NPIP MIR6862-2 NPIPB8 APOBR SGF29 LOC101928215 ATP2A1-AS1
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2
nsv1064483 Chr.16:28620264 - 28857362 on Build GRCh38 Loss NPIPB8 EIF3C SH2B1 NPIPB9 TUFM SULT1A1 MIR4721 MIR6862-2 ATXN2L

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