Product Details

Assay Reference Genome
Location

Chr.3:14126805 on build GRCh38
Cytoband
3p25.1
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
79188
Gene Symbol
TMEM43
Gene Name
transmembrane protein 43
Gene Aliases
ARVC5, ARVD5, EDMD7, LUMA
Location
Chr.3:14124940-14143680 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
TMEM43 NM_024334.2 NP_077310.1
XM_017007176.1 XP_016862665.1
AK027757.1 BAB55348.1
AK027877.1 BAB55425.1
AK075010.1 BAC11350.1
AK225589.1
AL136916.1 CAB66850.1
AY358625.1 AAQ88988.1
BC003125.1 AAH03125.1
BC011719.2 AAH11719.1
DA259919.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1011766 Chr3:13485961 - 14213016 on Build GRCh38 Gain TMEM43 XPC SNORA93 LSM3 FGD5P1 LINC00620 FBLN2 LOC100293612 HDAC11 WNT7A CHCHD4 TPRXL
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss TMEM43 XPC LSM3 FGD5P1 WNT7A CHCHD4 TPRXL
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion TMEM43 CCDC174 LOC152274 LINC01267 FGD5 CHCHD4 TPRXL GRIP2 XPC C3orf20 LSM3 FGD5P1 SLC6A6

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