Assay Details
Target Gene Details
Entrez Gene ID: | 4359 |
Gene Name: | myelin protein zero |
Gene Aliases: |
CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0 |
Location: |
Chr.1:161303593-161309972 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MPZ | NM_000530.7 | 6 | 1546 | NP_000521.2 |
NM_001315491.1 | 6 | 1546 | NP_001302420.1 | |
XM_017001321.1 | XP_016856810.1 | |||
BF509916.1 | ||||
BM663255.1 | 1 | 425 | ||
CD172418.1 | 1 | 690 | ||
CD515400.1 | 1 | 801 | ||
D10537.1 | 6 | 1522 | BAA01395.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv517826 | Chr.1:161293590 - 161307811 on Build GRCh38 | Gain | MPZ |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |