Product Details

Assay Reference Genome
Location

Chr.3:14130912 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 Exon 4 - Intron 4
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
AK074073.1 BAB84899.1
AK075010.1 BAC11350.1
AK225589.1
AL136916.1 CAB66850.1
AY358625.1 AAQ88988.1
BC003125.1 AAH03125.1
BC008054.2 AAH08054.2
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 LOC100293612 FGD5P1 HDAC11 TMEM43 WNT7A FBLN2 SNORA93 TPRXL LINC00620 LSM3 CHCHD4 XPC
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss FGD5P1 TMEM43 WNT7A TPRXL LSM3 CHCHD4 XPC
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion GRIP2 SLC6A6 LOC152274 FGD5 LINC01267 CHCHD4 FGD5P1 TMEM43 TPRXL CCDC174 LSM3 C3orf20 XPC
nsv955318 Chr3:14126901 - 14142100 on Build GRCh38 Deletion TMEM43

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