Assay Details
Target Gene Details
Entrez Gene ID: | 5119 |
Gene Name: | charged multivesicular body protein 1A |
Gene Aliases: |
CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A |
Location: |
Chr.16:89644431-89657785 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP1A | NM_001083314.3 | 6 | 1242 | NP_001076783.1 |
NM_002768.4 | 7 | 1262 | NP_002759.2 | |
NR_046418.2 | 7 | 1430 | ||
AK302055.1 | 6 | 536 | ||
BC010000.2 | 2 | 850 | AAH10000.2 | |
D38554.1 | 7 | 1130 | BAA07557.1 | |
U58048.1 | 7 | 1319 | AAC50775.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2762221 | Chr.16:89610380 - 90039318 on Build GRCh38 | Gain+Loss | DPEP1 MC1R DBNDD1 CHMP1A AFG3L1P SPATA2L LOC107984817 CENPBD1 SPATA33 VPS9D1 ZNF276 DEF8 GAS8 LOC105371419 SPIRE2 CDK10 TCF25 VPS9D1-AS1 FANCA GAS8-AS1 TUBB3 |
nsv428331 | Chr.16:89216635 - 90185980 on Build GRCh38 | Gain+Loss | DPEP1 MC1R RPL13 AFG3L1P LOC107984817 CENPBD1 SPG7 LOC101927817 VPS9D1 ZNF276 FAM157C LOC105371419 TCF25 SNORD68 VPS9D1-AS1 FANCA GAS8-AS1 TUBB3 DBNDD1 LOC100287036 CHMP1A LOC105371414 URAHP SPATA2L SPATA33 PRDM7 CPNE7 DEF8 GAS8 SPIRE2 CDK10 ANKRD11 ZNF778 TUBB8P7 |
nsv573739 | Chr.16:89625890 - 89696855 on Build GRCh38 | Gain | DPEP1 CDK10 CHMP1A SPATA2L SPATA33 |
nsv1063483 | Chr.16:89347250 - 89661187 on Build GRCh38 | Gain | CPNE7 DPEP1 RPL13 CHMP1A SNORD68 ANKRD11 SPATA33 SPG7 LOC101927817 |
nsv482951 | Chr.16:88633593 - 90228345 on Build GRCh38 | Loss | DPEP1 MC1R LOC339059 LINC00304 RPL13 AFG3L1P SPG7 CYBA RNF166 IL17C MVD PABPN1L LOC100129697 VPS9D1-AS1 FANCA TUBB3 LOC400558 DBNDD1 PIEZO1 CHMP1A LOC100289580 URAHP SPATA2L PRDM7 CBFA2T3 DEF8 LOC105371409 CDT1 ANKRD11 TRAPPC2L SLC22A31 ACSF3 GALNS LOC107984817 CENPBD1 LOC101927817 VPS9D1 ZNF276 FAM157C LOC105371419 TCF25 SNORD68 LOC107987238 CDH15 GAS8-AS1 CTU2 LOC100287036 LOC105371414 APRT SPATA33 LOC101927793 CPNE7 GAS8 SPIRE2 SNAI3 CDK10 MIR4722 SNAI3-AS1 ZNF778 TUBB8P7 |
nsv509639 | Chr.16:89513538 - 89775915 on Build GRCh38 | Insertion | DPEP1 RPL13 CHMP1A SPATA2L SPATA33 SPG7 VPS9D1 ZNF276 CPNE7 CDK10 SNORD68 VPS9D1-AS1 FANCA |
nsv1066382 | Chr.16:89537178 - 89661187 on Build GRCh38 | Gain | CPNE7 DPEP1 RPL13 CHMP1A SNORD68 SPATA33 SPG7 |
More Information
Additional Information:
For this assay, SNP(s) [rs145010051] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |