Product Details

Assay Reference Genome
Location

Chr.3:14127340 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 CHCHD4 WNT7A LOC100293612 TMEM43 SNORA93 FGD5P1 XPC LINC00620 HDAC11 LSM3 TPRXL FBLN2
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss CHCHD4 WNT7A TMEM43 FGD5P1 XPC LSM3 TPRXL
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion CCDC174 GRIP2 FGD5P1 XPC LOC152274 TPRXL FGD5 CHCHD4 TMEM43 LINC01267 LSM3 C3orf20 SLC6A6
nsv955318 Chr3:14126901 - 14142100 on Build GRCh38 Deletion TMEM43

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