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- Gene Symbol
- MCOLN1
- Assay Reference Genome
Location
Chr.19:7529217 on build GRCh38- Cytoband
Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 57192 |
Gene Name: | mucolipin TRP cation channel 1 |
Gene Aliases: |
LECD, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1 |
Location: |
Chr.19:7522624-7534009 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 10 - Intron 10 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MCOLN1 | NM_020533.3 | NP_065394.1 | ||
| AF171088.1 | AAQ13604.1 | |||
| AF249319.1 | AAG10422.1 | |||
| AF287269.1 | AAG00797.1 | |||
| AJ293659.1 | CAC07813.1 | |||
| AJ293970.1 | CAC08215.1 | |||
| AK026102.1 | BAB15360.1 | |||
| AK222673.1 | BAD96393.1 | |||
| AK294330.1 | BAG57602.1 | |||
| BC005149.2 | AAH05149.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2025-12-01, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1060887 | Chr.19:7089546 - 7861087 on Build GRCh38 | Gain |
 XAB2
STXBP2
MCOLN1
MIR6792
MCEMP1
CAMSAP3
EVI5L
CD209
SAXO5
TRAPPC5
PNPLA6
CLEC4M
ZNF358
PEX11G
RETN
CLEC4G
FCER2
ARHGEF18-AS1
PET100
ARHGEF18
CLEC4GP1
PCP2
INSR
|
| nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss |
XAB2
STXBP2
MCOLN1
MIR6792
CAMSAP3
PET100
PNPLA6
ZNF358
PCP2
|
| nsv4265190 | Chr.19:7515614 - 7536814 on Build GRCh38 | Duplication |
MCOLN1
PNPLA6
ZNF358
|
| esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain |
XAB2
STXBP2
MCOLN1
MCEMP1
MBD3L4
CAMSAP3
ZNF557
MBD3L5
CD209
ADGRE4P
TRAPPC5
CLEC4M
ZNF358
MBD3L3
PEX11G
RETN
CLEC4G
FCER2
ARHGEF18-AS1
ARHGEF18
MARK2P21
CLEC4GP1
PCP2
INSR
MIR6792
SAXO5
PNPLA6
MBD3L2B
MBD3L2
ADGRE1
PET100
|
Back To TopMore Information
Set Membership: |
Intragenic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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