Assay Details
Target Gene Details
Entrez Gene ID: | 25974 |
Gene Name: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
Gene Aliases: |
cblC |
Location: |
Chr.1:45500184-45511266 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MMACHC | NM_015506.2 | NP_056321.2 | ||
XM_005270724.4 | XP_005270781.1 | |||
XM_011541204.2 | 2 | 187 | XP_011539506.1 | |
AK098537.1 | ||||
AL080062.1 | CAB45693.2 | |||
BU839693.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893512 | Chr.1:45476180 - 46068871 on Build GRCh38 | Gain | CCDC163P IPP PIK3R3 MMACHC NASP AKR1A1 CCDC17 RPS15AP10 PRDX1 MAST2 TESK2 TMEM69 GPBP1L1 |
nsv829726 | Chr.1:45431909 - 45637514 on Build GRCh38 | Loss | NASP CCDC163P AKR1A1 CCDC17 PRDX1 MMACHC TESK2 GPBP1L1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |