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: | Overlaps Intron 2 - Exon 2 |
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 | XP_011526643.1 | |||
BC002817.2 | AAH02817.1 | |||
BC009863.2 | AAH09863.1 | |||
BG491509.1 |
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 | C19orf71 CACTIN-AS1 GIPC3 TBXA2R MFSD12 CACTIN NFIC FZR1 S1PR4 DOHH CELF5 SMIM24 HMG20B NCLN PIP5K1C |
nsv470114 | Chr.19:3372516 - 3855979 on Build GRCh38 | Loss | C19orf71 CACTIN-AS1 ZFR2 GIPC3 TBXA2R MFSD12 CACTIN APBA3 NFIC FZR1 MRPL54 DOHH TJP3 RAX2 SMIM24 HMG20B MATK PIP5K1C |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |