Assay Details
Target Gene Details
Entrez Gene ID: | 120071 |
Gene Name: | LARGE xylosyl- and glucuronyltransferase 2 |
Gene Aliases: |
GYLTL1B, PP5656 |
Location: |
Chr.11:45921621-45929096 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LARGE2 | NM_001300721.1 | 14 | 2189 | NP_001287650.1 |
NM_001300722.1 | 15 | 2116 | NP_001287651.1 | |
NM_152312.4 | 14 | 2209 | NP_689525.3 | |
XM_005252787.2 | 9 | 1514 | XP_005252844.1 | |
XM_006718140.1 | 15 | 2096 | XP_006718203.1 | |
XM_011519886.1 | 14 | 2215 | XP_011518188.1 | |
XM_011519888.1 | 14 | 2085 | XP_011518190.1 | |
XM_011519889.1 | 15 | 2141 | XP_011518191.1 | |
XM_011519890.1 | 14 | 2040 | XP_011518192.1 | |
XM_011519891.1 | 13 | 1974 | XP_011518193.1 | |
XM_011519893.1 | 13 | 1844 | XP_011518195.1 | |
XM_017017173.1 | 13 | 2308 | XP_016872662.1 | |
AF258588.1 | 6 | 1007 | AAG23791.1 | |
AK055829.1 | 15 | 2116 | ||
AK092526.1 | 10 | 1951 | BAC03909.1 | |
AK096021.1 | 14 | 2185 | BAC04675.1 | |
BC037291.2 | 14 | 2173 | AAH37291.1 | |
BM840813.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516442 | Chr.11:45878411 - 45961834 on Build GRCh38 | Loss | LARGE2 MAPK8IP1 PEX16 C11orf94 PHF21A CRY2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |