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Human (GRCh37.p13)
Description

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

Gene Synonyms

CTRCT40, CXN, SCML1

Location

Chromosome X: 17,393,543-17,754,114 forward strand.

GRCh37:CM000685.1

About this gene

This gene has 3 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
NHS-001ENST00000380060.387611630aaENSP00000369400.3
 
Protein coding
CCDS14181Q6T4R5 NM_198270
NP_938011
GENCODE basic
NHS-003ENST00000398097.382131474aaENSP00000381170.3
 
Protein coding
CCDS48087Q6T4R5 NM_001136024
NP_001129496
GENCODE basic
NHS-002ENST00000485305.1409No protein-
 
Processed transcript
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Gene-based displays