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