Description
GDP-mannose pyrophosphorylase A [Source:HGNC Symbol;Acc:22923]
Gene Synonyms
AAMR
Location
Chromosome 2: 220,363,589-220,371,710 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 12 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000358215.3 | GMPPA-003 | 1822 | 420aa | ENSP00000350949.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2441 | C9J255 C9JAH0 Q96IJ6 | NM_205847.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000373917.3 | GMPPA-002 | 1630 | 473aa | ENSP00000363027.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J255 C9JAH0 Q96IJ6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000313597.5 | GMPPA-001 | 1544 | 420aa | ENSP00000315925.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2441 | C9J255 C9JAH0 Q96IJ6 | NM_013335.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000341142.3 | GMPPA-012 | 1524 | 420aa | ENSP00000340760.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2441 | C9J255 C9JAH0 Q96IJ6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000373908.1 | GMPPA-004 | 1501 | 420aa | ENSP00000363016.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2441 | C9J255 C9JAH0 Q96IJ6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000455657.1 | GMPPA-006 | 859 | 163aa | ENSP00000392465.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J255 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000435316.1 | GMPPA-008 | 786 | 249aa | ENSP00000411060.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JAH0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000443704.1 | GMPPA-005 | 1783 | 290aa | ENSP00000396750.1 | Nonsense mediated decay | C9J255 C9JAH0 F8WD54 | - | - | |
| ENST00000481170.1 | GMPPA-013 | 4942 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000480506.1 | GMPPA-009 | 835 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000480034.1 | GMPPA-011 | 571 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000496536.1 | GMPPA-010 | 302 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
