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 | 3817 | NP_001005291.1 |
NM_001321096.2 | 19 | 3589 | NP_001308025.1 | |
NM_004176.4 | 19 | 3727 | NP_004167.3 | |
XM_005256772.4 | 19 | 3727 | XP_005256829.1 | |
XM_017024970.1 | 17 | 3158 | XP_016880459.1 | |
XM_017024971.1 | 15 | 2509 | XP_016880460.1 | |
AB209609.1 | 18 | 4193 | BAD92846.1 | |
AK091131.1 | 19 | 3556 | ||
AK095325.1 | 14 | 2566 | ||
AK128320.1 | 17 | 3236 | ||
AK293795.1 | 19 | 3427 | ||
AK294800.1 | 20 | 3405 | ||
AK297113.1 | 17 | 3141 | ||
BC023621.2 | 13 | 2151 | AAH23621.1 | |
BC026962.1 | 13 | 2343 | AAH26962.1 | |
BC057388.1 | 19 | 3718 | AAH57388.1 | |
BC063281.1 | 20 | 3792 | AAH63281.1 | |
BE208013.1 | ||||
U00968.1 | 19 | 3699 | 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 | SREBF1 RAI1 |
nsv953838 | Chr.17:17700587 - 17819486 on Build GRCh38 | Deletion | SREBF1 RAI1-AS1 RAI1 SMCR5 MIR6777 MIR33B |
nsv522668 | Chr.17:17716545 - 17849495 on Build GRCh38 | Loss | SREBF1 RAI1-AS1 RAI1 SMCR5 TOM1L2 MIR6777 MIR33B |
nsv833385 | Chr.17:17690723 - 17862264 on Build GRCh38 | Loss | LOC100507131 SREBF1 RAI1-AS1 RAI1 SMCR5 TOM1L2 MIR6777 MIR33B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |