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 Intron 9 |
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 | |||
AY203927.1 | AAP34450.1 | |||
BC000011.2 | AAH00011.1 | |||
BT006930.1 | AAP35576.1 | |||
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 | MVD LOC339059 CTU2 SNAI3-AS1 SNAI3 MIR4722 CYBA RNF166 PIEZO1 LOC100289580 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | MVD CYBA IL17C ZC3H18 |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | MVD SNAI3-AS1 SNAI3 CYBA RNF166 ZC3H18-AS1 IL17C ZC3H18 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | ZNF469 MVD LOC339059 CTU2 MIR5189 SNAI3-AS1 ZFPM1 CYBA RNF166 ZC3H18-AS1 IL17C PIEZO1 LOC100289580 SNAI3 LOC107984862 MIR4722 ZC3H18 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | APRT SPG7 ZNF276 TUBB3 CDK10 FAM157C LOC100129697 LINC00304 LOC107984817 AFG3L1P RNF166 PIEZO1 PABPN1L MC1R LOC101927793 RPL13 SNAI3 TRAPPC2L SLC22A31 ANKRD11 DPEP1 URAHP LOC400558 CDT1 CHMP1A LOC100289580 TUBB8P7 LOC107987238 GAS8 SNORD68 TCF25 SPATA2L LOC105371419 FANCA MVD LOC339059 VPS9D1-AS1 LOC105371414 LOC101927817 CBFA2T3 ZNF778 MIR4722 LOC100287036 SPIRE2 CDH15 LOC105371409 CPNE7 CTU2 SNAI3-AS1 VPS9D1 CYBA IL17C PRDM7 DEF8 GALNS GAS8-AS1 DBNDD1 SPATA33 CENPBD1 ACSF3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |