Product Details

Assay Reference Genome
Location

Chr.3:14140838 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 12
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
TMEM43 NM_024334.2 NP_077310.1
XM_017007176.1 XP_016862665.1
AK027466.1 BAB55131.1
AK027757.1 BAB55348.1
AK027827.1 BAB55396.1
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
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 LINC00620 WNT7A TMEM43 FBLN2 SNORA93 CHCHD4 LOC100293612 TPRXL FGD5P1 LSM3 HDAC11 XPC
nsv521096 Chr3:14135751 - 14154182 on Build GRCh38 Loss TMEM43 XPC
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss WNT7A TMEM43 CHCHD4 TPRXL FGD5P1 LSM3 XPC
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion FGD5 GRIP2 LOC152274 C3orf20 CCDC174 FGD5P1 LSM3 LINC01267 TMEM43 CHCHD4 TPRXL SLC6A6 XPC
nsv955318 Chr3:14126901 - 14142100 on Build GRCh38 Deletion TMEM43

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