Assay Details
Target Gene Details
Entrez Gene ID: | 10677 |
Gene Name: | advillin |
Gene Aliases: |
ADVIL, DOC6, p92 |
Location: |
Chr.12:57797372-57818704 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AVIL | NM_006576.3 | 19 | 2626 | NP_006567.3 |
XM_017018710.1 | 20 | 2692 | XP_016874199.1 | |
XM_017018711.1 | 20 | 5438 | XP_016874200.1 | |
XM_017018712.1 | 20 | 5381 | XP_016874201.1 | |
XM_017018713.1 | 20 | 5041 | XP_016874202.1 | |
XM_017018714.1 | 12 | 1841 | XP_016874203.1 | |
XM_017018715.1 | 12 | 1715 | XP_016874204.1 | |
AF041449.1 | 19 | 2626 | AAC25051.1 | |
BC111730.1 | AAI11731.1 | |||
BX647344.1 | 9 | 2543 |
Target Gene Details
Entrez Gene ID: | 10102 |
Gene Name: | Ts translation elongation factor, mitochondrial |
Gene Aliases: |
EFTS, EFTSMT |
Location: |
Chr.12:57782745-57802856 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSFM | NM_001172697.1 | NP_001166168.1 | ||
AK308981.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv559046 | Chr.12:57768302 - 58084815 on Build GRCh38 | Gain | METTL21B LOC100506844 LOC105369783 ATP23 MIR26A2 METTL1 LOC283387 AVIL TSFM CTDSP2 |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | METTL21B AGAP2 TSPAN31 MARCH9 CYP27B1 METTL1 AVIL CDK4 MIR6759 TSFM |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | METTL21B AGAP2 TSPAN31 MARCH9 CYP27B1 METTL1 AVIL CDK4 MIR6759 TSFM |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |