Assay Details
Target Gene Details
Entrez Gene ID: | 51001 |
Gene Name: | mitochondrial transcription termination factor 3 |
Gene Aliases: |
CGI-12, MTERFD1 |
Location: |
Chr.8:96239398-96261613 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTERF3 | NM_001286643.1 | 4 | 653 | NP_001273572.1 |
NM_015942.4 | 4 | 653 | NP_057026.3 | |
XM_006716570.3 | 4 | 611 | XP_006716633.1 | |
XM_011517054.2 | 3 | 320 | XP_011515356.1 | |
AF132946.1 | 3 | 375 | AAD27721.1 | |
AK001801.1 | 2 | 357 | ||
AK309002.1 | 4 | 650 | ||
BC012995.2 | 4 | 608 | AAH12995.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv24857 | Chr.8:96250742 - 96251196 on Build GRCh38 | Loss | MTERF3 |
nsv1020494 | Chr.8:96188447 - 96286981 on Build GRCh38 | Gain | PTDSS1 UQCRB MTERF3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |