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 | LOC441728 SIN3A FBXO22-AS1 ODF3L1 IMP3 MIR4313 NRG4 TMEM266 ETFA CSPG4 LOC107984799 UBE2Q2 TYRO3P FBXO22 ISL2 SNUPN SNX33 LOC101929439 DNM1P35 PTPN9 SCAPER |
nsv569998 | Chr.15:75940264 - 76258597 on Build GRCh38 | Gain | LOC101929439 NRG4 TMEM266 ETFA |
nsv1618 | Chr.15:76206324 - 76240497 on Build GRCh38 | Insertion | ETFA |
nsv833057 | Chr.15:76075507 - 76293527 on Build GRCh38 | Loss | TYRO3P LOC101929439 TMEM266 ETFA |
esv2749898 | Chr.15:75764003 - 77933523 on Build GRCh38 | Deletion | TSPAN3 LINC00597 LINGO1-AS1 LINGO1-AS2 LOC441728 LINGO1 FBXO22-AS1 NRG4 TMEM266 ETFA LOC645752 HMG20A UBE2Q2 TYRO3P FBXO22 PEAK1 ISL2 RCN2 LOC101929439 PSTPIP1 MIR3713 LOC101929457 SCAPER |
esv3581766 | Chr.15:76221921 - 76223779 on Build GRCh38 | Loss | ETFA |
More Information
Additional Information:
For this assay, SNP(s) [rs147485608] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |