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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DOHH | NM_001145165.1 | NP_001138637.1 | ||
NM_031304.4 | NP_112594.1 | |||
XM_011528341.2 | 4 | 728 | XP_011526643.1 | |
BC002817.2 | AAH02817.1 | |||
BC009863.2 | AAH09863.1 |
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 | CELF5 PIP5K1C MFSD12 C19orf71 NCLN TBXA2R CACTIN CACTIN-AS1 SMIM24 NFIC HMG20B FZR1 GIPC3 DOHH S1PR4 |
nsv470114 | Chr.19:3372516 - 3855979 on Build GRCh38 | Loss | PIP5K1C MATK MFSD12 C19orf71 TBXA2R CACTIN CACTIN-AS1 TJP3 RAX2 APBA3 MRPL54 SMIM24 NFIC HMG20B FZR1 GIPC3 DOHH ZFR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |