Product Details

Assay Reference Genome
Location

Chr.4:145639305 on build GRCh38
Cytoband
4q31.21
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MMAA NM_172250.2 2 251 NP_758454.1
XM_011531684.2 2 329 XP_011529986.1
XM_011531685.2 2 372 XP_011529987.1
XM_011531686.2 1 231 XP_011529988.1
AK126662.1 2 251
BC101178.2 1 213 AAI01179.1
BC101179.2 1 213 AAI01180.1
BC101180.2 1 213 AAI01181.1
BC101181.2 1 213 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 MMAA LOC285422 C4orf51

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