Product Details

Assay Reference Genome
Location

Chr.4:145641107 on build GRCh38
Cytoband
4q31.21
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs75377282] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Target Gene Details

Entrez Gene ID
166785
Gene Symbol
MMAA
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblA type
Gene Aliases
cblA
Location
Chr.4:145619388-145660035 on build GRCh38
Assay Gene Location
Within Intron 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MMAA NM_172250.2 NP_758454.1
XM_011531684.2 XP_011529986.1
XM_011531685.2 XP_011529987.1
XM_011531686.2 XP_011529988.1
AK126662.1
BC101178.2 AAI01179.1
BC101179.2 AAI01180.1
BC101180.2 AAI01181.1
BC101181.2 AAI01182.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv830105 Chr4:145576238 - 145749385 on Build GRCh38 Loss C4orf51 LOC285422 MMAA

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