Assay Details
Target Gene Details
Entrez Gene ID: | 22937 |
Gene Name: | SREBF chaperone |
Gene Aliases: |
- |
Location: |
Chr.3:47413685-47477126 on Build GRCh38 |
Assay Gene Location: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SCAP | NM_001320044.1 | 12 | 1957 | NP_001306973.1 |
NM_012235.3 | 15 | 2442 | NP_036367.2 | |
XM_005264967.1 | 15 | 2369 | XP_005265024.1 | |
XM_005264968.1 | 12 | 2111 | XP_005265025.1 | |
XM_005264971.1 | 9 | 1522 | XP_005265028.1 | |
XM_011533501.1 | 15 | 2469 | XP_011531803.1 | |
XM_011533502.2 | 7 | 1118 | XP_011531804.1 | |
XM_017005918.1 | 15 | 2456 | XP_016861407.1 | |
XM_017005919.1 | 15 | 2389 | XP_016861408.1 | |
XM_017005920.1 | 15 | 2389 | XP_016861409.1 | |
XM_017005921.1 | 9 | 1522 | XP_016861410.1 | |
AK027402.1 | 9 | 1435 | BAB55088.1 | |
AK074312.1 | 9 | 1818 | ||
AK075528.1 | BAC11673.1 | |||
AK291484.1 | 10 | 1635 | ||
AK300311.1 | 12 | 1847 | ||
BC020987.1 | 7 | 1163 | AAH20987.1 | |
BC027207.2 | 10 | 1135 | AAH27207.1 | |
D83782.2 | 15 | 2428 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954480 | Chr.3:47404811 - 47421010 on Build GRCh38 | Deletion | PTPN23 SCAP |
nsv428417 | Chr.3:46638962 - 47778557 on Build GRCh38 | Loss | KIF9 ELP6 KIF9-AS1 CSPG5 ALS2CL SNORD13P3 PRSS46 TMIE PRSS45 NRADDP PTH1R PRSS42 MYL3 PTPN23 PRSS43 CCDC12 PRSS50 KLHL18 SCAP SMARCC1 SETD2 NBEAL2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |