Gene: NHS ENSG00000188158

Description

Nance-Horan syndrome (congenital cataracts and dental anomalies) [Source:HGNC Symbol;Acc:7820]

Gene Synonyms

CTRCT40, CXN, SCML1

Location

GRCh37:CM000685.1

About this gene

This gene has 3 transcripts (splice variants), 2 paralogues and is associated with 7 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380060.3	NHS-001	8761	1630aa	ENSP00000369400.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14181	Q6T4R5	NM_198270.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000398097.3	NHS-003	8213	1474aa	ENSP00000381170.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS48087	Q6T4R5	NM_001136024.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000485305.1	NHS-002	409	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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