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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MMACHC | NM_015506.2 | 4 | 2769 | NP_056321.2 |
XM_005270724.4 | 3 | 2528 | XP_005270781.1 | |
XM_011541204.2 | 4 | 2678 | XP_011539506.1 | |
AK098537.1 | ||||
AL080062.1 | 5 | 2163 | CAB45693.2 | |
BU632364.1 | 1 | 98 |
Target Gene Details
Entrez Gene ID: | 5052 |
Gene Name: | peroxiredoxin 1 |
Gene Aliases: |
MSP23, NKEF-A, NKEFA, PAG, PAGA, PAGB, PRX1, PRXI, TDPX2 |
Location: |
Chr.1:45511035-45522890 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRDX1 | NM_001202431.1 | NP_001189360.1 | ||
NM_002574.3 | NP_002565.1 | |||
NM_181696.2 | NP_859047.1 | |||
NM_181697.2 | NP_859048.1 | |||
AI912389.1 | ||||
BC021683.1 | AAH21683.1 |
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 | AKR1A1 GPBP1L1 PRDX1 CCDC163P NASP RPS15AP10 CCDC17 TMEM69 MAST2 IPP PIK3R3 MMACHC TESK2 |
nsv829726 | Chr.1:45431909 - 45637514 on Build GRCh38 | Loss | AKR1A1 NASP GPBP1L1 CCDC17 PRDX1 CCDC163P MMACHC TESK2 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |