Nance-Horan syndrome (congenital cataracts and dental anomalies) [Source:HGNC Symbol;Acc:7820]
CTRCT40, CXN, SCML1
Chromosome X: 17,393,543-17,754,114 forward strand.
GRCh37:CM000685.1
This gene has 3 transcripts (splice variants), 2 paralogues and is associated with 7 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000380060.3 | NHS-001 | 8761 | 1630aa | ENSP00000369400.3 | Protein coding | CCDS14181 | Q6T4R5 | NM_198270.2 | Ensembl Canonical, GENCODE basic, |
ENST00000398097.3 | NHS-003 | 8213 | 1474aa | ENSP00000381170.3 | Protein coding | CCDS48087 | Q6T4R5 | NM_001136024.2 | GENCODE basic, |
ENST00000485305.1 | NHS-002 | 409 | No protein | - | Processed transcript | - | - | - |