Assay Details
Target Gene Details
Entrez Gene ID: | 2108 |
Gene Name: | electron transfer flavoprotein alpha subunit |
Gene Aliases: |
EMA, GA2, MADD |
Location: |
Chr.15:76216228-76311469 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ETFA | NM_000126.3 | NP_000117.1 | ||
NM_001127716.1 | NP_001121188.1 | |||
AA557337.1 | ||||
AK292979.1 | ||||
AK300044.1 | ||||
BC015526.1 | AAH15526.1 | |||
BC095457.1 | AAH95457.1 | |||
BT009796.1 | AAP88798.1 | |||
BU176141.1 | ||||
J04058.1 | AAA52406.1 | |||
KU178046.1 | ||||
KU178047.1 | ||||
KU178048.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2749895 | Chr.15:75415580 - 76472296 on Build GRCh38 | Deletion | ODF3L1 DNM1P35 NRG4 FBXO22-AS1 UBE2Q2 MIR4313 ISL2 SNX33 LOC101929439 SCAPER LOC107984799 TMEM266 SIN3A LOC441728 TYRO3P ETFA IMP3 CSPG4 SNUPN PTPN9 FBXO22 |
nsv569998 | Chr.15:75940264 - 76258597 on Build GRCh38 | Gain | TMEM266 ETFA NRG4 LOC101929439 |
nsv1618 | Chr.15:76206324 - 76240497 on Build GRCh38 | Insertion | ETFA |
nsv833057 | Chr.15:76075507 - 76293527 on Build GRCh38 | Loss | TMEM266 TYRO3P ETFA LOC101929439 |
esv2749898 | Chr.15:75764003 - 77933523 on Build GRCh38 | Deletion | LOC101929457 LINGO1-AS1 PSTPIP1 LINGO1-AS2 MIR3713 NRG4 FBXO22-AS1 UBE2Q2 ISL2 TSPAN3 LOC101929439 SCAPER HMG20A TMEM266 RCN2 LOC441728 TYRO3P ETFA LINGO1 PEAK1 LOC645752 LINC00597 FBXO22 |
nsv527608 | Chr.15:76237926 - 76270397 on Build GRCh38 | Loss | TYRO3P ETFA |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |