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