Assay Details
Target Gene Details
Entrez Gene ID: | 4597 |
Gene Name: | mevalonate diphosphate decarboxylase |
Gene Aliases: |
FP17780, MDDase, MPD, POROK7 |
Location: |
Chr.16:88651935-88663153 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MVD | NM_002461.2 | 10 | 1579 | NP_002452.1 |
XM_011523086.2 | 11 | 1685 | XP_011521388.1 | |
XM_011523087.2 | 12 | 1690 | XP_011521389.1 | |
XM_011523088.2 | 11 | 1586 | XP_011521390.1 | |
XM_011523089.2 | 13 | 1806 | XP_011521391.1 | |
AY203927.1 | 6 | 2070 | AAP34450.1 | |
BC000011.2 | 10 | 1540 | AAH00011.1 | |
U49260.1 | 10 | 1517 | AAC50440.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv471113 | Chr.16:88650665 - 88764428 on Build GRCh38 | Loss | MIR4722 MVD LOC339059 RNF166 PIEZO1 SNAI3-AS1 CTU2 CYBA LOC100289580 SNAI3 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | MVD ZC3H18 IL17C CYBA |
esv3639554 | Chr.16:88641322 - 88654848 on Build GRCh38 | Loss | MVD CYBA |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | MVD ZC3H18 IL17C RNF166 SNAI3-AS1 CYBA SNAI3 ZC3H18-AS1 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | MIR5189 MIR4722 MVD LOC107984862 ZC3H18 IL17C SNAI3-AS1 LOC100289580 ZFPM1 LOC339059 RNF166 PIEZO1 CTU2 CYBA ZNF469 SNAI3 ZC3H18-AS1 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | CHMP1A LOC400558 IL17C LOC107984817 LOC105371409 SPG7 DEF8 LOC105371419 RNF166 GALNS LOC107987238 PIEZO1 CDT1 LOC100287036 URAHP CDK10 SPIRE2 PABPN1L TUBB8P7 LOC100129697 DPEP1 VPS9D1 CDH15 GAS8-AS1 SPATA33 CYBA GAS8 TRAPPC2L APRT MIR4722 CBFA2T3 TUBB3 SLC22A31 ZNF778 PRDM7 SNORD68 MC1R ANKRD11 TCF25 RPL13 LOC101927793 SNAI3 VPS9D1-AS1 SPATA2L FANCA MVD CENPBD1 AFG3L1P FAM157C ZNF276 LINC00304 SNAI3-AS1 LOC101927817 LOC100289580 CPNE7 LOC105371414 LOC339059 ACSF3 DBNDD1 CTU2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |