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

Chr.16:28865270 on build GRCh38
Cytoband
16p11.2
Assay ID Hs01634955_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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SH2B1 NM_001145795.1 NP_001139267.1
NM_001145796.1 NP_001139268.1
NM_001145797.1 NP_001139269.1
NM_001145812.1 NP_001139284.1
NM_001308293.1 NP_001295222.1
NM_001308294.1 NP_001295223.1
NM_015503.2 1 1278 NP_056318.2
XM_017023115.1 XP_016878604.1
XM_017023116.1 1 1319 XP_016878605.1
XM_017023118.1 XP_016878607.1
XM_017023119.1 XP_016878608.1
AB037720.1 1 2467
AF227967.1 AAF73912.1
AF227968.1 AAF73913.1
AF227969.1 AAF73914.1
AK055104.1
AK290332.1
AK297080.1
AK298569.1
AL713760.1 1 1278 CAD28530.1
DA338190.1
DA490578.1
DB026545.1

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 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss SPNS1 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
esv3638349 Chr.16:28860611 - 28907894 on Build GRCh38 Gain SH2B1 ATP2A1 ATP2A1-AS1 RABEP2
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss SPNS1 ATP2A1 NUPR1 NPIPB9 NFATC2IP MIR4721 NPIPB6 SBK1 RRN3P2 TUFM SH2B1 ATXN2L MIR4517 NPIPB8 NPIP RABEP2 APOBR MIR6862-1 CLN3 LAT CD19 SGF29 LOC101928215 IL27 SULT1A2 SULT1A1 EIF3CL XPO6 ATP2A1-AS1 EIF3C MIR6862-2
nsv519100 Chr.16:28826194 - 29032129 on Build GRCh38 Gain SPNS1 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain SPNS1 ATP2A1 NUPR1 NPIPB9 NFATC2IP MIR4721 LOC107984832 RRN3P2 TUFM SH2B1 ATXN2L MIR4517 NPIPB8 NPIP RABEP2 APOBR MIR6862-1 CLN3 LAT CD19 SGF29 LOC101928215 IL27 SULT1A2 SULT1A1 EIF3CL ATP2A1-AS1 EIF3C MIR6862-2
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain SPNS1 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain SPNS1 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss SPNS1 TUFM SH2B1 ATP2A1 ATXN2L LAT ATP2A1-AS1 MIR4517 CD19 NFATC2IP MIR4721 RABEP2
dgv2830n100 Chr.16:28620264 - 29032542 on Build GRCh38 Gain SPNS1 ATP2A1 LAT CD19 NPIPB9 NFATC2IP MIR4721 TUFM SH2B1 SULT1A1 ATXN2L ATP2A1-AS1 MIR4517 NPIPB8 EIF3C MIR6862-2 RABEP2

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