Assay Details
Target Gene Details
Entrez Gene ID: | 4594 |
Gene Name: | methylmalonyl-CoA mutase |
Gene Aliases: |
MCM |
Location: |
Chr.6:49430360-49463328 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MUT | NM_000255.3 | 13 | 2461 | NP_000246.2 |
XM_005249143.3 | 13 | 2366 | XP_005249200.1 | |
AB208845.1 | 7 | 4808 | BAD92082.1 | |
AK292568.1 | 13 | 2437 | ||
AK312611.1 | 13 | 2436 | ||
BC016282.1 | 13 | 2324 | AAH16282.1 | |
BT007434.1 | 12 | 2196 | AAP36102.1 | |
BX647789.1 | 12 | 3772 | ||
CA444307.1 | 1 | 525 | ||
KU178201.1 | 12 | 2196 | ||
KU178202.1 | 13 | 2272 | ||
M65131.1 | 13 | 2272 | AAA59569.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv5960n100 | Chr.6:49322472 - 49684411 on Build GRCh38 | Gain | CENPQ CRISP2 GLYATL3 RHAG C6orf141 MUT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |