Assay Details
Target Gene Details
Entrez Gene ID: | 1512 |
Gene Name: | cathepsin H |
Gene Aliases: |
ACC-4, ACC-5, ACC4, ACC5, CPSB |
Location: |
Chr.15:78921750-78945098 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTSH | NM_001319137.1 | NP_001306066.1 | ||
NM_004390.4 | NP_004381.2 | |||
XM_005254181.2 | XP_005254238.1 | |||
XM_017021951.1 | XP_016877440.1 | |||
XM_017021952.1 | XP_016877441.1 | |||
AF426247.1 | AAL23961.1 | |||
AF426248.1 | AAL23962.1 | |||
AK130158.1 | ||||
AK309491.1 | ||||
AK314698.1 | ||||
BC002479.2 | AAH02479.1 | |||
BG775606.1 | ||||
CR456881.1 | CAG33162.1 | |||
X07549.1 | CAA30428.1 | |||
X16832.1 | CAA34734.1 | |||
Y18461.1 | CAA77179.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3552725 | Chr.15:78928018 - 78941559 on Build GRCh38 | Deletion | CTSH |
nsv1629 | Chr.15:78910014 - 78940030 on Build GRCh38 | Insertion | CTSH |
esv33573 | Chr.15:78761142 - 79001539 on Build GRCh38 | Gain+Loss | ADAMTS7 MORF4L1 RASGRF1 CTSH |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |