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See other MRPL40 CNV Assays ›
Gene Symbol
MRPL40
Assay Reference Genome
Location

Chr.22:19435822 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02247365_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
MRPL40 NM_001318151.1 4 784 NP_001305080.1
NM_001318152.1 3 754 NP_001305081.1
NM_003776.3 4 1134 NP_003767.2
AF034091.1 4 493 AAC70904.1
AJ295637.1 4 491 CAC00535.1
AK057708.1 1 3268
AK123768.1 4 1134
BC009707.1 4 523 AAH09707.1
BM974354.1 1 275
BX382916.2 4 708
CR456532.1 4 486 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 MRPL40 C22orf39 UFD1L
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain LINC00895 SEPT5 SEPT5-GP1BB MRPL40 TBX1 C22orf39 CLDN5 CDC45 GP1BB UFD1L
nsv834127 Chr.22:19414564 - 19656457 on Build GRCh38 Loss LINC00895 HIRA MRPL40 C22orf39 CLDN5 CDC45 UFD1L
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain LOC100996415 DGCR10 COMT LOC100996432 SEPT5-GP1BB C22orf39 TXNRD2 DGCR2 CDC45 DGCR14 UFD1L DGCR11 SLC25A1 CLTCL1 TBX1 FAM230A RIMBP3 TMEM191B GNB1L DGCR5 DGCR9 LOC100996401 LINC01311 LINC00895 PRODH LOC729461 DGCR6 HIRA C22orf29 MRPL40 GP1BB LOC642643 GSC2 USP18 GGT3P SEPT5 LOC102725072 MIR4761 CLDN5 TSSK2 PI4KAP1
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain LINC01311 LINC00895 HIRA SEPT5-GP1BB MRPL40 C22orf39 DGCR2 CDC45 GP1BB DGCR14 UFD1L GSC2 SLC25A1 SEPT5 CLTCL1 TBX1 CLDN5 GNB1L TSSK2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Function(s) Process(es)


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