Assay Details
Target Gene Details
Entrez Gene ID: | 29072 |
Gene Name: | SET domain containing 2 |
Gene Aliases: |
HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, SET2, p231HBP |
Location: |
Chr.3:47016408-47164109 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 19 - Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SETD2 | NM_014159.6 | NP_054878.5 | ||
XM_011533631.2 | XP_011531933.1 | |||
XM_011533632.2 | XP_011531934.1 | |||
XM_011533633.2 | XP_011531935.1 | |||
XM_011533634.1 | XP_011531936.1 | |||
XM_017006270.1 | XP_016861759.1 | |||
AB051519.2 | BAB21823.2 | |||
AF049610.1 | AAC26846.1 | |||
AJ238403.1 | CAC28349.1 | |||
AK026837.1 | ||||
AK095494.1 | ||||
AL713692.1 | CAD28492.1 | |||
AL831959.1 | CAD38601.2 | |||
AY576987.1 | AAT77612.1 | |||
AY576988.1 | AAT77613.1 | |||
BC090954.1 | AAH90954.1 | |||
BC117162.1 | ||||
BC117164.1 | ||||
BX649110.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv997261 | Chr.3:47013276 - 47092190 on Build GRCh38 | Gain | SETD2 NRADDP |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | PRSS50 PRSS42 PRSS43 SCAP CSPG5 ELP6 SETD2 NBEAL2 PTPN23 ALS2CL PRSS46 TMIE SMARCC1 MYL3 KIF9 KIF9-AS1 CCDC12 PTH1R KLHL18 SNORD13P3 NRADDP PRSS45 |
esv3596073 | Chr.3:46936296 - 47131646 on Build GRCh38 | Loss | SETD2 NBEAL2 CCDC12 NRADDP |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |