Transcript: ENST00000399054.2 MKKS-002

Description

McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]

Gene Synonyms

BBS6, HMCS, KMS, MKS

Location

About this transcript

This transcript has 6 exons, is annotated with 10 domains and features, is associated with 11499 variant alleles and maps to 405 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000347364.3	MKKS-001	6714	570aa	ENSP00000246062.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13111	B7Z3W9 Q9NPJ1	NM_170784.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000399054.2	MKKS-002	2663	570aa	ENSP00000382008.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13111	B7Z3W9 Q9NPJ1	NM_018848.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000609375.1	MKKS-003	882	63aa	ENSP00000477297.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9HB66	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary

Statistics

Exons: 6, Coding exons: 4, Transcript length: 2,663 bps, Translation length: 570 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NPJ1

CCDS

This transcript is a member of the Human CCDS set: CCDS13111

Version

ENST00000399054.2

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:	OTTHUMT00000077992 (version 3)

GENCODE basic gene

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