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 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 |
---|---|---|---|
nsv1991 | Chr.17:15225960 - 15250740 on Build GRCh38 | Insertion |
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esv3640064 | Chr.17:15209141 - 15256214 on Build GRCh38 | Loss |
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esv3640062 | Chr.17:15167541 - 15260216 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)