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 | 784 | NP_001305080.1 |
NM_001318152.1 | 3 | 754 | NP_001305081.1 | |
NM_003776.3 | 4 | 1134 | NP_003767.2 | |
AF034091.1 | 4 | 493 | AAC70904.1 | |
AJ295637.1 | 4 | 491 | CAC00535.1 | |
AK057708.1 | 1 | 3268 | ||
AK123768.1 | 4 | 1134 | ||
BC009707.1 | 4 | 523 | AAH09707.1 | |
BM974354.1 | 1 | 275 | ||
BX382916.2 | 4 | 708 | ||
CR456532.1 | 4 | 486 | 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 | UFD1L CLTCL1 C22orf39 MRPL40 HIRA |
esv2751940 | Chr.22:19435727 - 19779259 on Build GRCh38 | Gain | TBX1 SEPT5-GP1BB UFD1L CLDN5 GP1BB LINC00895 C22orf39 MRPL40 SEPT5 CDC45 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | UFD1L CLDN5 LINC00895 C22orf39 MRPL40 CDC45 HIRA |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | DGCR5 TSSK2 LINC01311 SEPT5-GP1BB C22orf29 CLDN5 DGCR10 CDC45 FAM230A HIRA MIR4761 DGCR11 DGCR2 LOC729461 LOC100996432 LINC00895 LOC100996415 TBX1 DGCR9 SLC25A1 PI4KAP1 LOC642643 UFD1L GP1BB GGT3P CLTCL1 TMEM191B MRPL40 GSC2 LOC102725072 LOC100996401 DGCR6 GNB1L PRODH USP18 COMT RIMBP3 C22orf39 DGCR14 TXNRD2 SEPT5 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | TBX1 TSSK2 LINC01311 SEPT5-GP1BB SLC25A1 UFD1L CLDN5 GP1BB CLTCL1 MRPL40 GSC2 CDC45 GNB1L HIRA DGCR2 LINC00895 C22orf39 DGCR14 SEPT5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |