Assay Details
Target Gene Details
Entrez Gene ID: | 84693 |
Gene Name: | methylmalonyl-CoA epimerase |
Gene Aliases: |
GLOD2 |
Location: |
Chr.2:71109676-71130288 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MCEE | NM_032601.3 | 3 | 510 | NP_115990.3 |
XM_005264613.2 | 3 | 372 | XP_005264670.1 | |
AB209469.1 | 1 | 5557 | BAD92706.1 | |
AF364547.1 | 3 | 483 | AAK52052.1 | |
AI033764.1 | 1 | 366 | ||
BC020825.1 | 3 | 475 | AAH20825.1 | |
BM271757.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1009014 | Chr.2:71096874 - 71181739 on Build GRCh38 | Gain | MPHOSPH10 MCEE |
esv2662403 | Chr.2:71079295 - 71179547 on Build GRCh38 | Deletion | MPHOSPH10 MCEE |
nsv517762 | Chr.2:71100222 - 71124357 on Build GRCh38 | Gain+Loss | MCEE |
nsv2771 | Chr.2:71108462 - 71145252 on Build GRCh38 | Deletion | MPHOSPH10 MCEE |
esv2720185 | Chr.2:71079275 - 71185049 on Build GRCh38 | Deletion | MPHOSPH10 MCEE PAIP2B |
nsv438353 | Chr.2:71105173 - 71115461 on Build GRCh38 | Loss | MCEE |
nsv834256 | Chr.2:71029484 - 71202682 on Build GRCh38 | Gain | MPHOSPH10 NAGK OR7E91P MCEE PAIP2B OR7E62P |
More Information
Additional Information:
For this assay, SNP(s) [rs115175255] 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 |