Transcript: ENST00000380060.3 NHS-001

Description

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

Gene Synonyms

CTRCT40, CXN, SCML1

Location

About this transcript

This transcript has 8 exons, is annotated with 15 domains and features, is associated with 98371 variant alleles and maps to 514 oligo probes.

Gene

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	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		-	-	-

Summary

Statistics

Exons: 8, Coding exons: 8, Transcript length: 8,761 bps, Translation length: 1,630 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q6T4R5

CCDS

This transcript is a member of the Human CCDS set: CCDS14181

Version

ENST00000380060.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000059120 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.