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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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MUT | NM_000255.3 | 2 | 341 | NP_000246.2 |
XM_005249143.3 | 2 | 246 | XP_005249200.1 | |
AK292568.1 | 2 | 317 | ||
AK312611.1 | 2 | 316 | ||
BC016282.1 | 2 | 204 | AAH16282.1 | |
BT007434.1 | AAP36102.1 | |||
BX647789.1 | 2 | 166 | ||
DA777441.1 | 2 | 347 | ||
DB290266.1 | 2 | 331 | ||
KF030882.1 | ||||
KU178201.1 | ||||
KU178202.1 | ||||
M65131.1 | 2 | 152 | AAA59569.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv5960n100 | Chr.6:49322472 - 49684411 on Build GRCh38 | Gain | GLYATL3 CENPQ CRISP2 C6orf141 MUT RHAG |
dgv10654n54 | Chr.6:49453528 - 49478796 on Build GRCh38 | Gain | CENPQ MUT |
dgv1768e212 | Chr.6:49458721 - 49479515 on Build GRCh38 | Gain | CENPQ MUT |
Set Membership: |
Intragenic Exonic DGV Variation |