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: | Overlaps Intron 11 - Exon 11 |
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 | |||
BG261160.1 | ||||
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 | DNM1P35 CSPG4 ODF3L1 SIN3A MIR4313 TMEM266 IMP3 TYRO3P SNX33 ETFA SCAPER UBE2Q2 PTPN9 NRG4 ISL2 FBXO22 FBXO22-AS1 LOC101929439 SNUPN LOC441728 LOC107984799 |
nsv569998 | Chr.15:75940264 - 76258597 on Build GRCh38 | Gain | NRG4 TMEM266 LOC101929439 ETFA |
nsv1618 | Chr.15:76206324 - 76240497 on Build GRCh38 | Insertion | ETFA |
nsv833057 | Chr.15:76075507 - 76293527 on Build GRCh38 | Loss | TMEM266 TYRO3P LOC101929439 ETFA |
esv2749898 | Chr.15:75764003 - 77933523 on Build GRCh38 | Deletion | LOC645752 TSPAN3 RCN2 LOC101929457 TMEM266 TYRO3P ETFA LINGO1-AS2 SCAPER UBE2Q2 NRG4 LINGO1-AS1 ISL2 FBXO22 PSTPIP1 FBXO22-AS1 LOC101929439 LINGO1 PEAK1 MIR3713 LOC441728 LINC00597 HMG20A |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |