Assay Details
Target Gene Details
Entrez Gene ID: | 283120 |
Gene Name: | H19, imprinted maternally expressed transcript (non-protein coding) |
Gene Aliases: |
ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2 |
Location: |
Chr.11:1995176-2001466 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
H19 | NR_002196.2 | 1 | 383 | |
NR_131223.1 | 1 | 383 | ||
NR_131224.1 | ||||
AK056774.1 | ||||
AK092486.1 | ||||
AK311497.1 | ||||
AL546946.3 | 1 | 343 | ||
AL548405.3 | 1 | 343 | ||
CN424819.1 | ||||
DA443982.1 | 1 | 383 |
Target Gene Details
Entrez Gene ID: | 6150 |
Gene Name: | mitochondrial ribosomal protein L23 |
Gene Aliases: |
L23MRP, RPL23, RPL23L |
Location: |
Chr.11:1947272-2013176 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL23 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047474 | Chr.11:1803515 - 2043381 on Build GRCh38 | Gain | MIR7847 LSP1 SYT8 MRPL23 MRPL23-AS1 MIR4298 SNORD131 TNNI2 LINC01150 HOTS LINC01219 TNNT3 H19 MIR675 |
dgv1016n100 | Chr.11:1946041 - 2043381 on Build GRCh38 | Gain | SNORD131 HOTS LINC01219 MRPL23 H19 MRPL23-AS1 MIR675 |
nsv553064 | Chr.11:1943082 - 2001669 on Build GRCh38 | Loss | SNORD131 HOTS LINC01219 MRPL23 H19 MRPL23-AS1 MIR675 |
nsv469926 | Chr.11:1813024 - 2036416 on Build GRCh38 | Loss | MIR7847 LSP1 SYT8 MRPL23 MRPL23-AS1 MIR4298 SNORD131 TNNI2 LINC01150 HOTS LINC01219 TNNT3 H19 MIR675 |
nsv951283 | Chr.11:1913571 - 2040070 on Build GRCh38 | Deletion | SNORD131 HOTS LINC01219 MRPL23 TNNT3 H19 MRPL23-AS1 MIR675 |
esv29980 | Chr.11:1820597 - 2097889 on Build GRCh38 | Loss | MIR7847 LSP1 SYT8 MRPL23 MRPL23-AS1 MIR4298 SNORD131 TNNI2 LINC01150 HOTS LINC01219 TNNT3 H19 MIR675 |
nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain | C11orf21 IGF2 MRPL23 TSPAN32 MRPL23-AS1 MIR4686 IFITM10 IGF2-AS LINC01150 MIR483 CTSD HOTS CD81-AS1 CD81 LINC01219 TNNT3 H19 TRPM5 MIR7847 TSSC4 LSP1 SYT8 ASCL2 MIR4298 SNORD131 TNNI2 TH INS-IGF2 MIR675 INS |