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 4 - Exon 4 |
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 | LOC339059 CYBA CTU2 LOC100289580 RNF166 SNAI3 PIEZO1 MVD MIR4722 SNAI3-AS1 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | CYBA ZC3H18 IL17C MVD |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | CYBA ZC3H18 IL17C RNF166 SNAI3 MVD SNAI3-AS1 ZC3H18-AS1 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | ZNF469 CYBA ZC3H18 CTU2 MVD MIR4722 LOC339059 MIR5189 IL17C LOC107984862 LOC100289580 RNF166 SNAI3 PIEZO1 SNAI3-AS1 ZFPM1 ZC3H18-AS1 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | TUBB8P7 DBNDD1 SLC22A31 PRDM7 CHMP1A APRT ZNF778 LOC101927793 LOC107987238 RNF166 SNAI3 SPG7 VPS9D1 VPS9D1-AS1 SPATA2L SNAI3-AS1 SPIRE2 LINC00304 AFG3L1P FANCA ANKRD11 MVD LOC100287036 MC1R CDH15 CDK10 CENPBD1 SNORD68 LOC107984817 FAM157C CTU2 GALNS ACSF3 CDT1 RPL13 MIR4722 LOC400558 LOC339059 GAS8-AS1 LOC105371409 GAS8 URAHP LOC105371414 IL17C PIEZO1 LOC105371419 LOC100129697 LOC101927817 CYBA ZNF276 SPATA33 CPNE7 TCF25 DPEP1 DEF8 CBFA2T3 LOC100289580 PABPN1L TRAPPC2L TUBB3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |