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

Chr.22:19435914 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02039956_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 4 876 NP_001305080.1
NM_001318152.1 3 846 NP_001305081.1
NM_003776.3 4 1226 NP_003767.2
AF034091.1 4 585 AAC70904.1
AJ295637.1 4 583 CAC00535.1
AK057708.1 1 3360
AK123768.1 4 1226
BC009707.1 4 615 AAH09707.1
BM974354.1 1 183
BX382916.2 4 800
CR456532.1 4 578 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 UFD1L HIRA CLTCL1 C22orf39 MRPL40
esv2751940 Chr.22:19435727 - 19779259 on Build GRCh38 Gain GP1BB CLDN5 UFD1L LINC00895 TBX1 SEPT5-GP1BB CDC45 C22orf39 MRPL40 SEPT5
esv3575418 Chr.22:18161776 - 19963846 on Build GRCh38 Gain SLC25A1 DGCR2 LOC100996415 LOC102725072 TMEM191B GGT3P PRODH DGCR6 USP18 C22orf39 MRPL40 LOC729461 LOC100996401 SEPT5 DGCR9 GSC2 LINC00895 RIMBP3 PI4KAP1 COMT HIRA CDC45 DGCR10 LINC01311 TSSK2 C22orf29 CLTCL1 DGCR14 FAM230A GP1BB DGCR11 LOC100996432 CLDN5 DGCR5 TXNRD2 UFD1L TBX1 SEPT5-GP1BB MIR4761 GNB1L LOC642643
nsv834127 Chr.22:19414564 - 19656457 on Build GRCh38 Loss CLDN5 UFD1L LINC00895 HIRA CDC45 C22orf39 MRPL40
nsv588216 Chr.22:19086099 - 19839117 on Build GRCh38 Gain SLC25A1 DGCR2 LINC01311 TSSK2 CLTCL1 DGCR14 C22orf39 MRPL40 SEPT5 GP1BB CLDN5 GSC2 UFD1L LINC00895 TBX1 HIRA SEPT5-GP1BB CDC45 GNB1L

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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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