Assay Details
Target Gene Details
Entrez Gene ID: | 515 |
Gene Name: | ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 |
Gene Aliases: |
PIG47 |
Location: |
Chr.1:111449121-111461918 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP5F1 | NM_001688.4 | 1 | 199 | NP_001679.2 |
AK308266.1 | 2 | 235 | ||
BF237506.1 | 1 | 315 |
Target Gene Details
Entrez Gene ID: | 79084 |
Gene Name: | WD repeat domain 77 |
Gene Aliases: |
HKMT1069, MEP-50, MEP50, Nbla10071, p44, p44/Mep50 |
Location: |
Chr.1:111439890-111449308 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
WDR77 | NM_001317062.1 | NP_001303991.1 | ||
NM_001317063.1 | NP_001303992.1 | |||
NM_001317064.1 | NP_001303993.1 | |||
NM_024102.3 | NP_077007.1 | |||
NR_133654.1 | ||||
DB105102.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv463250 | Chr.1:111195294 - 111519590 on Build GRCh38 | Loss | PGCP1 ATP5F1 WDR77 TMIGD3 CHI3L2 CHIAP2 OVGP1 PIFO DENND2D C1orf162 ADORA3 CHIA |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |