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