Product Details

Assay Reference Genome
Location

Chr.3:14141936 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 Exon 13
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
TMEM43 NM_024334.2 12 1598 NP_077310.1
XM_017007176.1 13 1720 XP_016862665.1
AK027466.1 6 828 BAB55131.1
AK027757.1 12 1524 BAB55348.1
AK027827.1 7 881 BAB55396.1
AK027877.1 12 1462 BAB55425.1
AK074073.1 10 4029 BAB84899.1
AK075010.1 12 1449 BAC11350.1
AK225589.1 12 1521
AL136916.1 12 1492 CAB66850.1
AY358625.1 AAQ88988.1
BC003125.1 12 1493 AAH03125.1
BC008054.2 10 1088 AAH08054.2
BC011719.2 12 1493 AAH11719.1

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 LOC100293612 LSM3 FGD5P1 HDAC11 TMEM43 TPRXL FBLN2 SNORA93 CHCHD4 XPC
nsv521096 Chr3:14135751 - 14154182 on Build GRCh38 Loss TMEM43 XPC
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss WNT7A LSM3 FGD5P1 TMEM43 TPRXL CHCHD4 XPC
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion LSM3 LINC01267 FGD5P1 TPRXL GRIP2 SLC6A6 TMEM43 C3orf20 FGD5 CCDC174 LOC152274 CHCHD4 XPC
nsv955318 Chr3:14126901 - 14142100 on Build GRCh38 Deletion TMEM43

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