Assay Details
Target Gene Details
Entrez Gene ID: | 728819 |
Gene Name: | C1GALT1-specific chaperone 1 like |
Gene Aliases: |
- |
Location: |
Chr.2:43675153-43676322 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
C1GALT1C1L | NM_001101330.2 | 1 | 100 | NP_001094800.1 |
Target Gene Details
Entrez Gene ID: | 130271 |
Gene Name: | pleckstrin homology, MyTH4 and FERM domain containing H2 |
Gene Aliases: |
PLEKHH1L |
Location: |
Chr.2:43637300-43767987 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLEKHH2 | NM_172069.3 | NP_742066.2 | ||
XM_017003351.1 | XP_016858840.1 | |||
XM_017003352.1 | XP_016858841.1 | |||
XM_017003353.1 | XP_016858842.1 | |||
AK126308.1 | ||||
AL832207.1 | CAI46132.1 | |||
AL833546.1 | ||||
BC063310.1 | AAH63310.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3891993 | Chr.2:43470750 - 43815292 on Build GRCh38 | Gain | DYNC2LI1 C1GALT1C1L PLEKHH2 ABCG5 THADA |
dgv148e55 | Chr.2:43576289 - 43768352 on Build GRCh38 | Loss | C1GALT1C1L PLEKHH2 THADA |
dgv59n68 | Chr.2:43619845 - 43871585 on Build GRCh38 | Gain | DYNC2LI1 C1GALT1C1L ABCG8 PLEKHH2 ABCG5 |
nsv1007740 | Chr.2:42961811 - 44117003 on Build GRCh38 | Gain | ZFP36L2 DYNC2LI1 LRPPRC LOC107985876 C1GALT1C1L ABCG8 PLEKHH2 LINC01126 ABCG5 THADA LOC102723854 |
esv3590536 | Chr.2:43655280 - 43725404 on Build GRCh38 | Gain | C1GALT1C1L PLEKHH2 |
esv3590535 | Chr.2:43652145 - 43784858 on Build GRCh38 | Gain | DYNC2LI1 C1GALT1C1L PLEKHH2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |