Assay Details
Target Gene Details
Entrez Gene ID: | 64976 |
Gene Name: | mitochondrial ribosomal protein L40 |
Gene Aliases: |
L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM |
Location: |
Chr.22:19431902-19436078 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL40 | NM_001318151.1 | 1 | 48 | NP_001305080.1 |
NM_003776.3 | NP_003767.2 | |||
AF034091.1 | AAC70904.1 | |||
AJ295637.1 | CAC00535.1 | |||
AK057708.1 | ||||
AK123768.1 | ||||
BC009707.1 | AAH09707.1 | |||
BX382916.2 | ||||
CN409565.1 | 1 | 71 | ||
CR456532.1 | CAG30418.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834124 | Chr.22:19263316 - 19451297 on Build GRCh38 | Loss | MRPL40 C22orf39 UFD1L HIRA CLTCL1 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | CDC45 MRPL40 CLDN5 LINC00895 C22orf39 UFD1L HIRA |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | DGCR11 USP18 CLDN5 TBX1 LOC642643 TMEM191B SLC25A1 C22orf29 DGCR6 DGCR9 TSSK2 LOC729461 CLTCL1 DGCR14 PRODH SEPT5-GP1BB LINC00895 MIR4761 C22orf39 FAM230A HIRA DGCR2 CDC45 MRPL40 DGCR5 LOC100996401 SEPT5 DGCR10 GP1BB GGT3P LOC102725072 TXNRD2 GSC2 LOC100996432 PI4KAP1 GNB1L UFD1L LOC100996415 RIMBP3 COMT LINC01311 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | CDC45 MRPL40 CLDN5 TBX1 SEPT5 SLC25A1 TSSK2 GP1BB CLTCL1 DGCR14 GSC2 SEPT5-GP1BB LINC00895 C22orf39 GNB1L UFD1L LINC01311 HIRA DGCR2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |