Assay Details
Target Gene Details
Entrez Gene ID: | 29954 |
Gene Name: | protein O-mannosyltransferase 2 |
Gene Aliases: |
LGMD2N, MDDGA2, MDDGB2, MDDGC2 |
Location: |
Chr.14:77274956-77320885 on Build GRCh38 |
Assay Gene Location: | Within Exon 22 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMT2 | NM_013382.5 | 21 | 4681 | NP_037514.2 |
XM_011536675.2 | 22 | 4870 | XP_011534977.1 | |
XM_011536676.2 | 21 | 4783 | XP_011534978.1 | |
XM_011536677.2 | 18 | 4412 | XP_011534979.1 | |
XM_011536679.2 | 18 | 4072 | XP_011534981.1 | |
XM_017021244.1 | 20 | 4515 | XP_016876733.1 | |
XM_017021245.1 | 17 | 3969 | XP_016876734.1 | |
AB209114.1 | 20 | 5456 | BAD92351.1 | |
AI927974.1 | 1 | 192 | ||
AK023804.1 | 15 | 5272 | ||
AL049462.1 | 1 | 472 | ||
AL353956.1 | 4 | 2647 | CAB89256.1 | |
AY090480.1 | 21 | 4684 | AAM12046.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1361 | Chr.14:77241074 - 77286681 on Build GRCh38 | Deletion | NGB TMEM63C POMT2 MIR1260A |
nsv952872 | Chr.14:77274658 - 77279757 on Build GRCh38 | Deletion | POMT2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |