Assay Details
Target Gene Details
Entrez Gene ID: | 6720 |
Gene Name: | sterol regulatory element binding transcription factor 1 |
Gene Aliases: |
SREBP-1c, SREBP1, SREBP1a, bHLHd1 |
Location: |
Chr.17:17811349-17837017 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SREBF1 | NM_001005291.2 | 20 | 3688 | NP_001005291.1 |
NM_001321096.2 | 19 | 3460 | NP_001308025.1 | |
NM_004176.4 | 19 | 3598 | NP_004167.3 | |
XM_005256772.4 | 19 | 3598 | XP_005256829.1 | |
XM_017024970.1 | 17 | 3029 | XP_016880459.1 | |
XM_017024971.1 | 15 | 2380 | XP_016880460.1 | |
AB209609.1 | 18 | 4064 | BAD92846.1 | |
AK091131.1 | 19 | 3427 | ||
AK095325.1 | 14 | 2437 | ||
AK128320.1 | 17 | 3107 | ||
AK293795.1 | 19 | 3298 | ||
AK294800.1 | 20 | 3276 | ||
AK297113.1 | 17 | 3012 | ||
BC023621.2 | 13 | 2022 | AAH23621.1 | |
BC026962.1 | 13 | 2214 | AAH26962.1 | |
BC057388.1 | 19 | 3589 | AAH57388.1 | |
BC063281.1 | 20 | 3663 | AAH63281.1 | |
U00968.1 | 19 | 3570 | AAC50051.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2659754 | Chr.17:17806631 - 17812878 on Build GRCh38 | Deletion | RAI1 SREBF1 |
nsv953838 | Chr.17:17700587 - 17819486 on Build GRCh38 | Deletion | RAI1 SMCR5 MIR33B MIR6777 RAI1-AS1 SREBF1 |
nsv522668 | Chr.17:17716545 - 17849495 on Build GRCh38 | Loss | RAI1 SMCR5 MIR33B TOM1L2 MIR6777 RAI1-AS1 SREBF1 |
nsv833385 | Chr.17:17690723 - 17862264 on Build GRCh38 | Loss | RAI1 SMCR5 MIR33B TOM1L2 MIR6777 RAI1-AS1 LOC100507131 SREBF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |