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 2 - Exon 3 |
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 | 2148 | ||
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 | C22orf39 UFD1L CLTCL1 MRPL40 HIRA |
nsv834127 | Chr.22:19414564 - 19656457 on Build GRCh38 | Loss | C22orf39 UFD1L LINC00895 CDC45 MRPL40 CLDN5 HIRA |
esv3575418 | Chr.22:18161776 - 19963846 on Build GRCh38 | Gain | TMEM191B UFD1L LOC100996415 LOC100996432 CLTCL1 SEPT5 CDC45 LOC100996401 FAM230A DGCR6 HIRA C22orf39 LINC00895 PI4KAP1 DGCR11 DGCR2 GNB1L DGCR10 CLDN5 LOC642643 DGCR5 SLC25A1 GP1BB SEPT5-GP1BB GSC2 TSSK2 DGCR14 C22orf29 USP18 GGT3P LINC01311 RIMBP3 LOC102725072 PRODH COMT MRPL40 DGCR9 MIR4761 LOC729461 TXNRD2 TBX1 |
nsv588216 | Chr.22:19086099 - 19839117 on Build GRCh38 | Gain | UFD1L CLTCL1 SEPT5 CDC45 SLC25A1 GP1BB SEPT5-GP1BB GSC2 TSSK2 DGCR14 HIRA C22orf39 LINC00895 LINC01311 DGCR2 MRPL40 GNB1L CLDN5 TBX1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |