Assay Details
Target Gene Details
Entrez Gene ID: | 26517 |
Gene Name: | translocase of inner mitochondrial membrane 13 |
Gene Aliases: |
TIM13, TIM13B, TIMM13A, TIMM13B, ppv1 |
Location: |
Chr.19:2425624-2427916 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TIMM13 | NM_012458.3 | 3 | 1462 | NP_036590.1 |
AK024764.1 | 3 | 1097 | ||
AL520160.3 | 1 | 495 | ||
BI966836.1 | ||||
BQ015233.1 | 1 | 528 |
Target Gene Details
Entrez Gene ID: | 360200 |
Gene Name: | transmembrane protease, serine 9 |
Gene Aliases: |
- |
Location: |
Chr.19:2385254-2426261 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMPRSS9 | XM_011527978.2 | 19 | 3612 | XP_011526280.1 |
XM_011527980.1 | 11 | 2268 | XP_011526282.1 | |
XM_011527982.2 | 9 | 2043 | XP_011526284.1 | |
AK131261.1 | 9 | 1837 | BAD18439.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160562 | Chr.19:2328434 - 2460264 on Build GRCh38 | Deletion | LMNB2 TMPRSS9 SPPL2B TIMM13 MIR7108 LSM7 LOC101928602 |
nsv1064930 | Chr.19:2380093 - 2592252 on Build GRCh38 | Gain | LMNB2 GADD45B TMPRSS9 TIMM13 MIR7108 LOC101929097 GNG7 LOC101928602 |
nsv953944 | Chr.19:2283702 - 2525802 on Build GRCh38 | Deletion | LMNB2 GADD45B TMPRSS9 SPPL2B LINGO3 TIMM13 MIR7108 LSM7 LOC101929097 GNG7 LOC101928602 |
More Information
Additional Information:
For this assay, SNP(s) [rs149380178] 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 Exonic DGV Variation |