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