Product Details

Assay Reference Genome
Location

Chr.3:14129430 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
Overlaps Intron 2 - Exon 3
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
KU178769.1
KU178770.1

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

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