Assay Details
Target Gene Details
Entrez Gene ID: | 3208 |
Gene Name: | hippocalcin |
Gene Aliases: |
BDR2, DYT2 |
Location: |
Chr.1:32885965-32894646 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HPCA | NM_002143.2 | 2 | 290 | NP_002134.2 |
XM_005270792.2 | 2 | 426 | XP_005270849.1 | |
XM_017001118.1 | 2 | 762 | XP_016856607.1 | |
AK313907.1 | 2 | 294 | ||
BC001777.1 | 2 | 290 | AAH01777.1 | |
BT019750.1 | 1 | 250 | AAV38555.1 | |
BT019789.1 | 1 | 250 | AAV38592.1 | |
D16593.1 | 1 | 260 | BAA04019.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv950584 | Chr.1:32867900 - 32907199 on Build GRCh38 | Deletion | FNDC5 TMEM54 HPCA |
nsv516302 | Chr.1:32855000 - 32914507 on Build GRCh38 | Loss | S100PBP FNDC5 TMEM54 HPCA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |