Description
Wiskott-Aldrich syndrome [Source:HGNC Symbol;Acc:12731]
Gene Synonyms
IMD2, SCNX, THC, THC1, WASP
Location
Chromosome X: 48,534,985-48,549,818 forward strand.
GRCh37:CM000685.1
View alleles of this gene on alternative sequences
About this gene
This gene has 7 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 45 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000376701.4 | WAS-007 | 1849 | 502aa | ENSP00000365891.4 | Protein coding | CCDS14303 | C9J3B7 P42768 | NM_000377.2 | GENCODE basic, |
ENST00000450772.1 | WAS-002 | 933 | 216aa | ENSP00000410537.1 | Protein coding | C9J3B7 | - | CDS 3' incomplete, | |
ENST00000483750.1 | WAS-003 | 905 | No protein | - | Processed transcript | - | - | - | |
ENST00000465982.1 | WAS-006 | 718 | No protein | - | Processed transcript | - | - | - | |
ENST00000474174.1 | WAS-005 | 515 | No protein | - | Processed transcript | - | - | - | |
ENST00000470107.1 | WAS-001 | 322 | No protein | - | Processed transcript | - | - | - | |
ENST00000490627.1 | WAS-004 | 247 | No protein | - | Processed transcript | - | - | - |