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: | Overlaps Intron 6 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MVD | NM_002461.2 | NP_002452.1 | ||
XM_011523086.2 | XP_011521388.1 | |||
XM_011523087.2 | XP_011521389.1 | |||
XM_011523088.2 | XP_011521390.1 | |||
XM_011523089.2 | XP_011521391.1 | |||
BC000011.2 | AAH00011.1 | |||
BI752043.1 | ||||
BT006930.1 | AAP35576.1 | |||
HY026498.1 | ||||
U49260.1 | 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 | SNAI3-AS1 MIR4722 LOC100289580 CYBA MVD RNF166 CTU2 SNAI3 LOC339059 PIEZO1 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | ZC3H18 CYBA MVD IL17C |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | ZC3H18 SNAI3-AS1 CYBA MVD IL17C RNF166 SNAI3 ZC3H18-AS1 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | ZC3H18 MIR4722 LOC100289580 MVD LOC107984862 MIR5189 ZC3H18-AS1 ZNF469 LOC339059 SNAI3-AS1 CYBA IL17C RNF166 CTU2 SNAI3 ZFPM1 PIEZO1 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | URAHP CDH15 LOC105371419 TCF25 MIR4722 LOC100289580 CPNE7 GALNS SLC22A31 CENPBD1 PABPN1L CYBA FANCA RNF166 DPEP1 LOC105371409 FAM157C CDK10 DBNDD1 LOC101927817 PRDM7 LOC101927793 IL17C TUBB3 LOC100129697 LINC00304 LOC107984817 MVD AFG3L1P CHMP1A LOC105371414 DEF8 ACSF3 APRT SPATA33 ANKRD11 ZNF778 TRAPPC2L SNORD68 LOC400558 SPATA2L CBFA2T3 VPS9D1-AS1 PIEZO1 MC1R LOC100287036 ZNF276 VPS9D1 RPL13 TUBB8P7 SPIRE2 LOC339059 LOC107987238 SNAI3-AS1 SPG7 CDT1 CTU2 SNAI3 GAS8 GAS8-AS1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |