Product Details

Assay Reference Genome
Location

Chr.3:14132036 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 5
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
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 XPC LSM3 WNT7A FBLN2 FGD5P1 TPRXL CHCHD4 SNORA93 TMEM43 HDAC11 LINC00620
esv34163 Chr3:13865660 - 14212447 on Build GRCh38 Loss XPC LSM3 WNT7A FGD5P1 TPRXL CHCHD4 TMEM43
esv2724945 Chr3:13931758 - 14820330 on Build GRCh38 Deletion LOC152274 XPC LSM3 TPRXL TMEM43 GRIP2 SLC6A6 C3orf20 FGD5 FGD5P1 CHCHD4 CCDC174 LINC01267
nsv955318 Chr3:14126901 - 14142100 on Build GRCh38 Deletion TMEM43

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