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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL40 | NM_001318151.1 | 4 | 876 | NP_001305080.1 |
NM_001318152.1 | 3 | 846 | NP_001305081.1 | |
NM_003776.3 | 4 | 1226 | NP_003767.2 | |
AF034091.1 | 4 | 585 | AAC70904.1 | |
AJ295637.1 | 4 | 583 | CAC00535.1 | |
AK057708.1 | 1 | 3360 | ||
AK123768.1 | 4 | 1226 | ||
BC009707.1 | 4 | 615 | AAH09707.1 | |
BM974354.1 | 1 | 183 | ||
BX382916.2 | 4 | 800 | ||
CR456532.1 | 4 | 578 | 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 | C22orf39 UFD1L MRPL40 CLTCL1 HIRA |
esv2751940 | Chr.22:19435727 - 19779259 on Build GRCh38 | Gain | LINC00895 TBX1 C22orf39 CDC45 CLDN5 GP1BB SEPT5-GP1BB UFD1L MRPL40 SEPT5 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | LINC00895 C22orf39 CDC45 CLDN5 UFD1L MRPL40 HIRA |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | USP18 SLC25A1 LOC100996415 LOC100996401 MRPL40 COMT TMEM191B LOC102725072 DGCR9 LINC01311 FAM230A CDC45 TXNRD2 GGT3P CLTCL1 TSSK2 DGCR14 LOC100996432 LINC00895 DGCR6 CLDN5 GP1BB SEPT5-GP1BB DGCR2 RIMBP3 C22orf29 UFD1L DGCR10 DGCR5 PRODH LOC729461 HIRA GSC2 LOC642643 DGCR11 TBX1 C22orf39 PI4KAP1 GNB1L MIR4761 SEPT5 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | SLC25A1 LINC00895 CLDN5 GP1BB SEPT5-GP1BB DGCR2 UFD1L MRPL40 HIRA GSC2 LINC01311 TBX1 C22orf39 CDC45 GNB1L CLTCL1 TSSK2 DGCR14 SEPT5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |