Genomic Map
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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 | 1223 | NP_000295.1 |
| NM_001281455.1 | 5 | 1184 | NP_001268384.1 | |
| NM_001281456.1 | 5 | 1219 | NP_001268385.1 | |
| NM_153321.2 | 5 | 1180 | NP_696996.1 | |
| NM_153322.2 | 4 | 1102 | NP_696997.1 | |
| NR_104017.1 | 4 | 1111 | ||
| NR_104018.1 | 3 | 1011 | ||
| AK300690.1 | 6 | 1042 | ||
| BC019040.2 | 5 | 1145 | AAH19040.2 | |
| BC091499.1 | 5 | 1140 | AAH91499.1 | |
| BG424796.1 | ||||
| BQ212717.1 | 1 | 583 | ||
| CD519144.1 | 1 | 677 | ||
| D11428.1 | 5 | 1173 | BAA01995.1 | |
| L03203.1 | 5 | 1099 | AAA58495.1 | |
| M94048.1 | 4 | 1034 | AAA36457.1 | |
| X65968.1 | CAA46781.1 |
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
|
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Additional Information:
For this assay, SNP(s) [rs71699667] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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