Description

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

Location

Chromosome X: 17,375,420-17,735,994 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 5 transcripts (splice variants), 54 orthologues, 2 paralogues, is a member of 1 Ensembl protein family and is associated with 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NHS-001ENST0000038006087611630aaENSP00000369400
 
Protein coding
CCDS14181Q6T4R5 NM_001291867
NM_198270
NP_001278796
NP_938011
TSL:1GENCODE basicAPPRIS P3
NHS-003ENST0000039809782131474aaENSP00000381170
 
Protein coding
CCDS48087Q6T4R5 NM_001136024
NP_001129496
TSL:1GENCODE basicAPPRIS ALT2
NHS-201ENST0000061542288601471aaENSP00000480113
 
Protein coding
-A0A087WWC4 -TSL:5GENCODE basic
NHS-202ENST0000061760181631447aaENSP00000478433
 
Protein coding
-A0A087WU78 NM_001291868
NP_001278797
TSL:1GENCODE basic
NHS-002ENST00000485305409No protein-
 
Processed transcript
---TSL:5

Gene-based displays