Assay Details
Target Gene Details
Entrez Gene ID: | 9381 |
Gene Name: | otoferlin |
Gene Aliases: |
AUNB1, DFNB6, DFNB9, FER1L2, NSRD9 |
Location: |
Chr.2:26457203-26558698 on Build GRCh38 |
Assay Gene Location: | Within Exon 43 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OTOF | NM_001287489.1 | 43 | 5522 | NP_001274418.1 |
NM_004802.3 | 26 | 3320 | NP_004793.2 | |
NM_194248.2 | 43 | 5522 | NP_919224.1 | |
NM_194322.2 | 25 | 3474 | NP_919303.1 | |
NM_194323.2 | 26 | 3320 | NP_919304.1 | |
XM_017005338.1 | 43 | 5335 | XP_016860827.1 | |
AF107403.1 | 26 | 3320 | AAD26117.1 | |
AF183185.1 | 43 | 5522 | AAG12991.1 | |
AF183186.1 | 25 | 3474 | AAG12992.1 | |
AF183187.1 | 26 | 3320 | AAG17468.1 | |
AK296272.1 | 16 | 1877 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3583675 | Chr.2:26440850 - 26577652 on Build GRCh38 | Loss |
![]() ![]() ![]() |
nsv517800 | Chr.2:26449146 - 26617624 on Build GRCh38 | Loss |
![]() ![]() ![]() ![]() |
nsv953759 | Chr.2:26459433 - 26484332 on Build GRCh38 | Deletion |
![]() |
esv33316 | Chr.2:25440017 - 26672800 on Build GRCh38 | Loss |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |

More Information
Set Membership: |
![]() ![]() ![]() |
Panther Classification:
Gene Ontology Categories:
