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: | Overlaps Exon 2 - 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 | 758 | ||
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 C22orf39 HIRA UFD1L CLTCL1 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | MRPL40 CDC45 LINC00895 C22orf39 HIRA CLDN5 UFD1L |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | USP18 DGCR2 CLDN5 MIR4761 TSSK2 SEPT5 CLTCL1 PI4KAP1 SEPT5-GP1BB DGCR14 TMEM191B COMT RIMBP3 FAM230A UFD1L LOC102725072 LOC100996415 LOC100996401 LOC729461 DGCR11 TXNRD2 DGCR5 MRPL40 DGCR10 CDC45 PRODH LINC01311 LINC00895 GGT3P GNB1L SLC25A1 LOC642643 LOC100996432 DGCR9 GSC2 GP1BB DGCR6 C22orf39 HIRA TBX1 C22orf29 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | MRPL40 DGCR2 CDC45 LINC01311 LINC00895 CLDN5 TSSK2 SEPT5 CLTCL1 GNB1L SEPT5-GP1BB SLC25A1 DGCR14 GSC2 GP1BB C22orf39 HIRA TBX1 UFD1L |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |