Assay Details
Target Gene Details
Entrez Gene ID: | 10020 |
Gene Name: | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
Gene Aliases: |
DMRV, GLCNE, IBM2, NM, Uae1 |
Location: |
Chr.9:36214441-36277056 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GNE | NM_001128227.2 | 7 | 1372 | NP_001121699.1 |
NM_001190383.1 | 7 | 1388 | NP_001177312.1 | |
NM_001190384.1 | 5 | 1029 | NP_001177313.1 | |
NM_001190388.1 | 6 | 1166 | NP_001177317.1 | |
NM_005476.5 | 7 | 1388 | NP_005467.1 | |
XM_005251334.4 | 6 | 1219 | XP_005251391.1 | |
XM_017014167.1 | 7 | 1233 | XP_016869656.1 | |
XM_017014168.1 | 6 | 1212 | XP_016869657.1 | |
AF051852.1 | 6 | 1217 | AAD32251.1 | |
AF155663.1 | 6 | 1167 | AAD38197.1 | |
AJ238764.1 | 6 | 1208 | CAB42607.1 | |
AK295562.1 | 5 | 975 | ||
AK296687.1 | 6 | 1083 | ||
AK299488.1 | ||||
AK312539.1 | 7 | 1302 | ||
AM697708.1 | 7 | 1260 | ||
AM697709.1 | 6 | 1044 | ||
AY531126.1 | 6 | 1208 | AAS59257.1 | |
AY531127.1 | 6 | 1208 | AAS59258.1 | |
AY531128.1 | 6 | 1208 | AAS59259.1 | |
BC121179.2 | 7 | 1296 | ||
EU093084.1 | 6 | 1218 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1017711 | Chr.9:36073424 - 36548245 on Build GRCh38 | Gain | CCIN RNF38 RECK GNE CLTA GLIPR2 |
esv34080 | Chr.9:36005887 - 36453179 on Build GRCh38 | Loss | CCIN RNF38 RECK GNE CLTA GLIPR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |