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 SIN3A ISL2 SNUPN SCAPER FBXO22-AS1 LOC441728 LOC107984799 LOC101929439 ETFA TYRO3P MIR4313 DNM1P35 NRG4 TMEM266 UBE2Q2 PTPN9 FBXO22 CSPG4 IMP3 SNX33 |
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 | TYRO3P TMEM266 LOC101929439 ETFA |
esv2749898 | Chr.15:75764003 - 77933523 on Build GRCh38 | Deletion | ISL2 LINGO1-AS2 SCAPER FBXO22-AS1 LOC441728 PEAK1 HMG20A LOC101929439 ETFA LOC101929457 TSPAN3 RCN2 TYRO3P LINC00597 PSTPIP1 NRG4 TMEM266 UBE2Q2 MIR3713 LINGO1 FBXO22 LOC645752 LINGO1-AS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs111849590] 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 |