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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL40 | NM_001318151.1 | NP_001305080.1 | ||
NM_001318152.1 | NP_001305081.1 | |||
NM_003776.3 | NP_003767.2 | |||
AF034091.1 | AAC70904.1 | |||
AJ295637.1 | CAC00535.1 | |||
AK057708.1 | 1 | 1602 | ||
AK123768.1 | ||||
BC009707.1 | AAH09707.1 | |||
BM974354.1 | ||||
BP309678.1 | ||||
BX382916.2 | ||||
CN409565.1 | ||||
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 HIRA C22orf39 UFD1L CLTCL1 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | MRPL40 CLDN5 LINC00895 CDC45 HIRA C22orf39 UFD1L |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | LOC100996415 CLDN5 LINC00895 MIR4761 LOC642643 USP18 HIRA SLC25A1 GP1BB GGT3P DGCR14 DGCR11 DGCR6 SEPT5-GP1BB GSC2 DGCR9 MRPL40 CDC45 C22orf39 TXNRD2 DGCR5 LOC100996401 C22orf29 PI4KAP1 DGCR2 CLTCL1 LOC102725072 LOC100996432 LOC729461 SEPT5 LINC01311 TSSK2 TBX1 UFD1L FAM230A DGCR10 RIMBP3 GNB1L PRODH TMEM191B COMT |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | CLDN5 LINC00895 HIRA SLC25A1 GP1BB DGCR14 SEPT5 LINC01311 SEPT5-GP1BB TSSK2 TBX1 UFD1L GSC2 MRPL40 GNB1L CDC45 C22orf39 DGCR2 CLTCL1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |