Assay Details
Target Gene Details
Entrez Gene ID: | 541468 |
Gene Name: | leucine rich adaptor protein 1 |
Gene Aliases: |
C1orf190, LRAP35a, LRP35A |
Location: |
Chr.1:46203334-46221256 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LURAP1 | NM_001013615.2 | 2 | 523 | NP_001013633.1 |
AK057892.1 | 2 | 523 | BAB71608.1 | |
BC034422.1 | 2 | 516 | AAH34422.1 |
Target Gene Details
Entrez Gene ID: | 55624 |
Gene Name: | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Gene Aliases: |
GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2 |
Location: |
Chr.1:46188681-46220305 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMGNT1 | NM_001243766.1 | 1 | 376 | NP_001230695.1 |
AK056186.1 | 1 | 376 | ||
CR749700.1 | 1 | 362 | CAH18478.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470711 | Chr.1:46194623 - 46344858 on Build GRCh38 | Gain | LURAP1 UQCRH RAD54L POMGNT1 NSUN4 TSPAN1 LRRC41 |
esv2761743 | Chr.1:45874186 - 46561071 on Build GRCh38 | Gain | LOC101929626 LINC01398 MAST2 KNCN PIK3R3 NSUN4 MKNK1-AS1 DMBX1 LURAP1 FAAHP1 UQCRH RAD54L MKNK1 POMGNT1 FAAH TSPAN1 LRRC41 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |