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 11 |
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 CYBA RNF166 PIEZO1 MIR4722 LOC339059 SNAI3-AS1 SNAI3 LOC100289580 CTU2 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | MVD CYBA ZC3H18 IL17C |
esv3639554 | Chr.16:88641322 - 88654848 on Build GRCh38 | Loss | MVD CYBA |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | MVD CYBA RNF166 ZC3H18 IL17C SNAI3-AS1 ZC3H18-AS1 SNAI3 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | MVD CYBA MIR4722 ZNF469 ZC3H18 ZFPM1 IL17C SNAI3-AS1 SNAI3 MIR5189 LOC100289580 CTU2 RNF166 PIEZO1 LOC339059 LOC107984862 ZC3H18-AS1 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | CDT1 LOC105371419 LOC100287036 CDH15 PRDM7 SPG7 CTU2 LOC101927817 AFG3L1P LOC339059 MC1R VPS9D1 LOC101927793 FAM157C VPS9D1-AS1 DBNDD1 LOC105371414 SNAI3-AS1 SNAI3 RPL13 LOC105371409 URAHP TCF25 SPATA33 FANCA PIEZO1 ACSF3 CHMP1A CBFA2T3 LINC00304 TRAPPC2L SPIRE2 SPATA2L MVD CDK10 LOC107984817 SLC22A31 DPEP1 IL17C GAS8-AS1 DEF8 CENPBD1 GALNS TUBB8P7 LOC400558 PABPN1L TUBB3 GAS8 CYBA MIR4722 SNORD68 ZNF276 LOC100129697 LOC100289580 LOC107987238 RNF166 ANKRD11 CPNE7 APRT ZNF778 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |