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 Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MVD | NM_002461.2 | 7 | 883 | NP_002452.1 |
XM_011523086.2 | 8 | 989 | XP_011521388.1 | |
XM_011523087.2 | 9 | 994 | XP_011521389.1 | |
XM_011523088.2 | 8 | 890 | XP_011521390.1 | |
XM_011523089.2 | 10 | 1110 | XP_011521391.1 | |
AY203927.1 | 3 | 1373 | AAP34450.1 | |
BC000011.2 | 7 | 844 | AAH00011.1 | |
BT006930.1 | 7 | 814 | AAP35576.1 | |
U49260.1 | 7 | 821 | 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 | LOC100289580 CYBA MIR4722 SNAI3 MVD SNAI3-AS1 CTU2 LOC339059 PIEZO1 RNF166 |
nsv1926 | Chr.16:88626290 - 88660544 on Build GRCh38 | Insertion | IL17C CYBA ZC3H18 MVD |
nsv833325 | Chr.16:88553738 - 88698194 on Build GRCh38 | Loss | IL17C ZC3H18-AS1 CYBA ZC3H18 SNAI3 MVD SNAI3-AS1 RNF166 |
nsv952070 | Chr.16:88257295 - 88780192 on Build GRCh38 | Deletion | LOC107984862 IL17C LOC100289580 MIR4722 ZC3H18 SNAI3 MVD CTU2 PIEZO1 RNF166 MIR5189 ZNF469 ZFPM1 ZC3H18-AS1 CYBA SNAI3-AS1 LOC339059 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | LOC107987238 SNORD68 ACSF3 SPG7 PRDM7 LOC105371409 SNAI3 TUBB8P7 CTU2 LOC100287036 DEF8 MC1R AFG3L1P CDK10 CYBA LOC101927793 TRAPPC2L APRT SNAI3-AS1 DPEP1 CDT1 MIR4722 TCF25 GALNS FANCA VPS9D1 VPS9D1-AS1 GAS8 LOC107984817 SPATA33 FAM157C LOC100129697 SPIRE2 LINC00304 LOC101927817 IL17C LOC105371414 PIEZO1 SLC22A31 CPNE7 RPL13 CDH15 GAS8-AS1 LOC339059 TUBB3 URAHP SPATA2L LOC100289580 PABPN1L MVD ANKRD11 CBFA2T3 LOC105371419 RNF166 LOC400558 CHMP1A ZNF778 CENPBD1 ZNF276 DBNDD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |