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: | Within Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SETD2 | NM_014159.6 | 21 | 8085 | NP_054878.5 |
XM_011533631.2 | 22 | 9581 | XP_011531933.1 | |
XM_011533632.2 | 21 | 8157 | XP_011531934.1 | |
XM_011533633.2 | 21 | 9448 | XP_011531935.1 | |
XM_011533634.1 | 21 | 8110 | XP_011531936.1 | |
XM_017006270.1 | 19 | 9284 | XP_016861759.1 | |
AB051519.2 | 19 | 6085 | BAB21823.2 | |
AF049103.1 | AAC26194.1 | |||
AI671342.1 | 1 | 368 | ||
AJ238403.1 | CAC28349.1 | |||
AK026837.1 | 7 | 1743 | ||
AK095494.1 | 14 | 2541 | ||
AL049470.1 | 1 | 1920 | ||
AL713692.1 | 7 | 1351 | CAD28492.1 | |
AL831959.1 | 19 | 7227 | CAD38601.2 | |
AY576987.1 | AAT77612.1 | |||
AY576988.1 | AAT77613.1 | |||
BC090954.1 | 19 | 5875 | AAH90954.1 | |
BC117162.1 | 19 | 6708 | ||
BC117164.1 | 19 | 6708 | ||
BX649110.1 | 19 | 7852 |
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 | ALS2CL SCAP TMIE PRSS50 SMARCC1 PTH1R NBEAL2 NRADDP PRSS45 PRSS43 MYL3 PRSS42 PRSS46 KIF9 KIF9-AS1 CCDC12 SETD2 CSPG5 ELP6 PTPN23 KLHL18 SNORD13P3 |
esv3596073 | Chr.3:46936296 - 47131646 on Build GRCh38 | Loss | CCDC12 SETD2 NBEAL2 NRADDP |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |