Assay Details
Target Gene Details
Entrez Gene ID: | 83475 |
Gene Name: | deoxyhypusine hydroxylase/monooxygenase |
Gene Aliases: |
HLRC1, hDOHH |
Location: |
Chr.19:3490821-3500940 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DOHH | NM_001145165.1 | 2 | 605 | NP_001138637.1 |
NM_031304.4 | 2 | 316 | NP_112594.1 | |
XM_011528341.2 | 2 | 313 | XP_011526643.1 | |
BC002817.2 | 2 | 316 | AAH02817.1 | |
BC009863.2 | 1 | 205 | AAH09863.1 | |
BG491509.1 | 2 | 578 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953948 | Chr.19:3171703 - 3700002 on Build GRCh38 | Deletion | GIPC3 CELF5 NCLN C19orf71 SMIM24 S1PR4 PIP5K1C TBXA2R DOHH CACTIN NFIC MFSD12 HMG20B FZR1 CACTIN-AS1 |
nsv470114 | Chr.19:3372516 - 3855979 on Build GRCh38 | Loss | APBA3 GIPC3 C19orf71 ZFR2 MATK SMIM24 MRPL54 PIP5K1C TBXA2R RAX2 DOHH CACTIN NFIC TJP3 MFSD12 HMG20B FZR1 CACTIN-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |