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Entrez Gene ID: | 166785 |
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 Transcript 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 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830105 | Chr.4:145576238 - 145749385 on Build GRCh38 | Loss | LOC285422 MMAA C4orf51 |
Set Membership: |
Intragenic Exonic DGV Variation |