Assay Details
Target Gene Details
Entrez Gene ID: | 160418 |
Gene Name: | transmembrane and tetratricopeptide repeat containing 3 |
Gene Aliases: |
SMILE |
Location: |
Chr.12:88142296-88199887 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMTC3 | NM_181783.3 | 1 | 115 | NP_861448.2 |
XM_011537980.2 | 1 | 109 | XP_011536282.1 | |
AJ697717.1 | CAG26973.1 | |||
AK290436.1 | 1 | 115 | ||
AK302755.1 | 1 | 115 | ||
AK310375.1 | 1 | 115 | ||
AK310393.1 | 1 | 115 | ||
BX538169.1 | 1 | 88 | CAD98046.1 | |
CR749244.1 | 1 | 67 | CAH18100.1 | |
CR749309.1 | 1 | 101 | CAH18164.1 | |
CR933632.1 | 1 | 66 | CAI45938.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv807 | Chr.12:88133831 - 88178716 on Build GRCh38 | Deletion | TMTC3 CEP290 |
nsv483111 | Chr.12:86306223 - 88606223 on Build GRCh38 | Loss | TMTC3 CEP290 MKRN9P C12orf50 LOC105369879 MGAT4C KITLG C12orf29 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |