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 Intron 3 - Exon 4 |
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 | 3087 | ||
AK123768.1 | ||||
BC009707.1 | AAH09707.1 | |||
BM974354.1 | ||||
BX382916.2 | ||||
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 UFD1L C22orf39 CLTCL1 |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | MRPL40 CLDN5 LINC00895 HIRA UFD1L CDC45 C22orf39 |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | LOC102725072 SEPT5-GP1BB DGCR10 TXNRD2 USP18 DGCR9 UFD1L GNB1L C22orf39 CLTCL1 GP1BB CLDN5 LOC100996432 COMT PI4KAP1 CDC45 PRODH MIR4761 C22orf29 FAM230A DGCR6 LOC100996415 LINC01311 RIMBP3 DGCR14 TMEM191B SEPT5 DGCR5 TSSK2 TBX1 MRPL40 DGCR11 LOC729461 LINC00895 HIRA DGCR2 LOC642643 SLC25A1 GSC2 LOC100996401 GGT3P |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | SEPT5-GP1BB LINC01311 DGCR14 UFD1L SEPT5 GNB1L C22orf39 CLTCL1 GP1BB TSSK2 TBX1 MRPL40 CLDN5 LINC00895 HIRA DGCR2 SLC25A1 GSC2 CDC45 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |