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 5 |
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 | MIR4722 RNF166 CTU2 LOC100289580 SNAI3-AS1 LOC339059 CYBA PIEZO1 MVD SNAI3 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | CYBA MVD ZC3H18 IL17C |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | RNF166 SNAI3-AS1 ZC3H18-AS1 CYBA MVD ZC3H18 SNAI3 IL17C |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | MIR4722 ZNF469 LOC100289580 ZC3H18-AS1 CYBA MVD RNF166 LOC107984862 CTU2 SNAI3-AS1 LOC339059 MIR5189 PIEZO1 ZFPM1 ZC3H18 SNAI3 IL17C |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | LOC100287036 URAHP TCF25 SPG7 CBFA2T3 CYBA AFG3L1P LOC105371414 LOC101927793 CDK10 SNAI3-AS1 SPATA2L ZNF778 TUBB8P7 ANKRD11 LOC100289580 GALNS APRT VPS9D1 LINC00304 FANCA CDH15 TUBB3 SPATA33 PRDM7 CHMP1A SNORD68 CTU2 VPS9D1-AS1 LOC105371419 LOC105371409 SNAI3 IL17C LOC107984817 CENPBD1 GAS8-AS1 FAM157C RNF166 MC1R LOC339059 ZNF276 LOC100129697 PIEZO1 LOC101927817 MIR4722 RPL13 LOC107987238 GAS8 PABPN1L CPNE7 ACSF3 MVD SLC22A31 DEF8 DBNDD1 TRAPPC2L DPEP1 CDT1 SPIRE2 LOC400558 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |