Assay Details
Target Gene Details
Entrez Gene ID: | 6491 |
Gene Name: | SCL/TAL1 interrupting locus |
Gene Aliases: |
MCPH7, SIL |
Location: |
Chr.1:47250139-47314787 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
STIL | NM_001048166.1 | 16 | 3140 | NP_001041631.1 |
NM_001282936.1 | 17 | 3346 | NP_001269865.1 | |
NM_001282937.1 | 17 | 3295 | NP_001269866.1 | |
NM_001282938.1 | 18 | 3208 | NP_001269867.1 | |
NM_001282939.1 | 18 | 3019 | NP_001269868.1 | |
NM_003035.2 | 16 | 3137 | NP_003026.2 | |
XM_006710834.3 | 17 | 3214 | XP_006710897.1 | |
XM_011541991.2 | 17 | 3880 | XP_011540293.1 | |
XM_011541992.2 | 17 | 3863 | XP_011540294.1 | |
XM_011541994.2 | 16 | 3086 | XP_011540296.1 | |
XM_011541996.2 | 17 | 2999 | XP_011540298.1 | |
XM_011541998.2 | 17 | 2945 | XP_011540300.1 | |
XM_011542001.2 | XP_011540303.1 | |||
XM_017002123.1 | 17 | 2996 | XP_016857612.1 | |
XM_017002124.1 | 12 | 2416 | XP_016857613.1 | |
XM_017002125.1 | XP_016857614.1 | |||
XM_017002126.1 | XP_016857615.1 | |||
AK128406.1 | ||||
AK307519.1 | ||||
BC053615.1 | AAH53615.1 | |||
BC126223.1 | 16 | 3213 | ||
BC144089.1 | 16 | 3162 | ||
CR749851.1 | 16 | 3116 | CAH18699.1 | |
M74558.1 | 17 | 3362 | AAA60550.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv822531 | Chr.1:47248220 - 47264411 on Build GRCh38 | Gain | STIL |
nsv1160846 | Chr.1:47249998 - 47266706 on Build GRCh38 | Duplication | STIL |
nsv441692 | Chr.1:47247989 - 47263416 on Build GRCh38 | Gain | STIL |
esv3578138 | Chr.1:47247976 - 47263403 on Build GRCh38 | Gain | STIL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |