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 | HIRA MRPL40 CLTCL1 UFD1L C22orf39 |
esv2751940 | Chr.22:19435727 - 19779259 on Build GRCh38 | Gain | SEPT5-GP1BB GP1BB CDC45 MRPL40 LINC00895 SEPT5 CLDN5 TBX1 UFD1L C22orf39 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | HIRA CDC45 MRPL40 LINC00895 CLDN5 UFD1L C22orf39 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | GGT3P FAM230A DGCR6 SLC25A1 COMT LOC100996432 LOC100996415 C22orf29 PI4KAP1 GP1BB DGCR5 SEPT5 RIMBP3 DGCR10 USP18 DGCR11 HIRA MIR4761 LOC102725072 DGCR9 CDC45 MRPL40 LINC00895 CLTCL1 TXNRD2 GNB1L TBX1 PRODH LOC642643 DGCR2 DGCR14 SEPT5-GP1BB GSC2 LOC100996401 TSSK2 TMEM191B CLDN5 LOC729461 UFD1L LINC01311 C22orf39 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | HIRA CDC45 MRPL40 LINC00895 CLTCL1 SLC25A1 GNB1L TBX1 DGCR2 DGCR14 SEPT5-GP1BB GSC2 TSSK2 GP1BB SEPT5 CLDN5 UFD1L LINC01311 C22orf39 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |