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 | NP_056321.2 | ||
XM_005270724.4 | 3 | 2666 | XP_005270781.1 | |
XM_011541204.2 | 4 | 2816 | XP_011539506.1 | |
AK098537.1 | ||||
BU632364.1 |
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: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRDX1 | NM_001202431.1 | 6 | 929 | NP_001189360.1 |
NM_002574.3 | 6 | 1146 | NP_002565.1 | |
NM_181696.2 | 6 | 1120 | NP_859047.1 | |
NM_181697.2 | 6 | 926 | NP_859048.1 | |
AI912389.1 | 1 | 118 | ||
AK131049.1 | 6 | 874 | ||
BC007063.1 | 6 | 872 | AAH07063.1 | |
BC021683.1 | 6 | 878 | AAH21683.1 | |
X67951.1 | 6 | 865 | CAA48137.1 |
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 | RPS15AP10 CCDC17 GPBP1L1 MAST2 AKR1A1 MMACHC TESK2 IPP PRDX1 NASP PIK3R3 CCDC163P TMEM69 |
nsv829726 | Chr.1:45431909 - 45637514 on Build GRCh38 | Loss | PRDX1 CCDC17 NASP GPBP1L1 AKR1A1 MMACHC TESK2 CCDC163P |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |