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

Chr.16:28848507 on build GRCh38
Cytoband
16p11.2
Assay ID Hs05471244_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 NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
esv3638348 Chr.16:28841706 - 28861977 on Build GRCh38 Gain TUFM MIR4721 SH2B1
esv3892826 Chr.16:28814728 - 29032129 on Build GRCh38 Gain+Loss NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
esv2758640 Chr.16:28163817 - 29139232 on Build GRCh38 Gain+Loss SBK1 CD19 NPIPB9 RABEP2 MIR6862-2 EIF3CL LAT RRN3P2 NPIPB8 SULT1A1 MIR4517 NPIP MIR6862-1 SPNS1 NFATC2IP APOBR SGF29 LOC101928215 IL27 ATP2A1-AS1 NUPR1 SULT1A2 XPO6 CLN3 MIR4721 SH2B1 TUFM NPIPB6 EIF3C ATXN2L ATP2A1
nsv518648 Chr.16:28826194 - 29032129 on Build GRCh38 Loss NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
nsv1059555 Chr.16:28373144 - 29195838 on Build GRCh38 Gain CD19 LOC107984832 NPIPB9 RABEP2 MIR6862-2 EIF3CL LAT RRN3P2 NPIPB8 SULT1A1 MIR4517 NPIP MIR6862-1 SPNS1 NFATC2IP APOBR SGF29 LOC101928215 IL27 ATP2A1-AS1 NUPR1 SULT1A2 CLN3 MIR4721 SH2B1 TUFM EIF3C ATXN2L ATP2A1
dgv502e214 Chr.16:28841240 - 28861977 on Build GRCh38 Loss TUFM MIR4721 SH2B1
dgv2831n100 Chr.16:28812594 - 29032542 on Build GRCh38 Gain NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
esv3570454 Chr.16:28799004 - 29032129 on Build GRCh38 Gain NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
nsv571805 Chr.16:28824174 - 29032129 on Build GRCh38 Loss NFATC2IP MIR4517 CD19 RABEP2 TUFM ATP2A1-AS1 LAT SPNS1 ATXN2L MIR4721 ATP2A1 SH2B1
dgv2830n100 Chr.16:28620264 - 29032542 on Build GRCh38 Gain NFATC2IP CD19 NPIPB9 RABEP2 ATP2A1-AS1 MIR6862-2 LAT NPIPB8 SULT1A1 MIR4721 SH2B1 MIR4517 TUFM EIF3C SPNS1 ATXN2L ATP2A1

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More Information


Additional Information:

For this assay, SNP(s) [rs117580044] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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