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 Intron 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PMP22 | NM_000304.3 | NP_000295.1 | ||
| NM_001281455.1 | NP_001268384.1 | |||
| NM_001281456.1 | NP_001268385.1 | |||
| NM_153321.2 | NP_696996.1 | |||
| NM_153322.2 | NP_696997.1 | |||
| NR_104017.1 | ||||
| NR_104018.1 | ||||
| XM_017024775.1 | XP_016880264.1 | |||
| XM_017024776.1 | XP_016880265.1 | |||
| AK290640.1 | ||||
| AK300690.1 | ||||
| BC019040.2 | AAH19040.2 | |||
| BC091499.1 | AAH91499.1 | |||
| BF725606.1 | ||||
| BQ232542.1 | ||||
| BQ694106.1 | ||||
| BX464118.2 | ||||
| CR541931.1 | CAG46729.1 | |||
| CR541953.1 | CAG46751.1 | |||
| D11428.1 | BAA01995.1 | |||
| DB466564.1 | ||||
| DB504971.1 | ||||
| HY099893.1 | ||||
| HY119295.1 | ||||
| KR259962.1 | ||||
| KR259963.1 | ||||
| KR259964.1 | ||||
| L03203.1 | AAA58495.1 | |||
| M94048.1 | AAA36457.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3640062 | Chr.17:15167541 - 15260216 on Build GRCh38 | Loss |
 MIR4731
PMP22
|
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Additional Information:
For this assay, SNP(s) [rs113217648] 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
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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