Assay Details
Target Gene Details
Entrez Gene ID: | 5376 |
Gene Name: | peripheral myelin protein 22 |
Gene Aliases: |
CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110 |
Location: |
Chr.17:15229777-15265357 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PMP22 | NM_000304.3 | 5 | 1664 | NP_000295.1 |
NM_001281455.1 | 5 | 1625 | NP_001268384.1 | |
NM_001281456.1 | 5 | 1660 | NP_001268385.1 | |
NM_153321.2 | 5 | 1621 | NP_696996.1 | |
NM_153322.2 | 4 | 1543 | NP_696997.1 | |
NR_104017.1 | 4 | 1552 | ||
NR_104018.1 | 3 | 1452 | ||
BC019040.2 | 5 | 1586 | AAH19040.2 | |
BC091499.1 | 5 | 1581 | AAH91499.1 | |
BG424796.1 | 1 | 495 | ||
CK818720.1 | 1 | 213 | ||
D11428.1 | 5 | 1614 | BAA01995.1 | |
DV460945.1 | 1 | 117 | ||
L03203.1 | 5 | 1540 | AAA58495.1 | |
M94048.1 | 4 | 1475 | AAA36457.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1991 | Chr.17:15225960 - 15250740 on Build GRCh38 | Insertion | PMP22 |
esv3640064 | Chr.17:15209141 - 15256214 on Build GRCh38 | Loss | MIR4731 PMP22 |
esv3640062 | Chr.17:15167541 - 15260216 on Build GRCh38 | Loss | MIR4731 PMP22 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |