DiGeorge syndrome critical region gene 14 [Source:HGNC Symbol;Acc:16817]
DGCR13, DGS-G, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, SPOGA2, STK22B, TSK2
Chromosome 22: 19,130,363-19,132,172 reverse strand.
This transcript has 2 exons, is associated with 1098 variant alleles and maps to 136 oligo probes.
This transcript is a product of gene ENSG00000100056.7 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000252137.6 | DGCR14-001 | 5392 | 476aa | ENSP00000252137.6 | Protein coding | CCDS13756 | Q96DF8 | NM_022719.2 | Ensembl Canonical, GENCODE basic, |
ENST00000434568.1 | DGCR14-002 | 1808 | 293aa | ENSP00000388524.1 | Nonsense mediated decay | F8WEF8 | - | - | |
ENST00000472073.1 | DGCR14-003 | 2101 | No protein | - | Retained intron | - | - | - | |
ENST00000469466.1 | DGCR14-004 | 581 | No protein | - | Retained intron | - | - | - |