Transcript: ENST00000609375.1 MKKS-003

Description

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

Gene Synonyms

BBS6, HMCS, KMS, MKS

Location

About this transcript

This transcript has 3 exons, is annotated with 1 domain and feature, is associated with 7556 variant alleles and maps to 188 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: 3, Coding exons: 1, Transcript length: 882 bps, Translation length: 63 residues

Version

ENST00000609375.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000472492 (version 2)

Annotation Attributes

RP supported TIS [Definitions]

GENCODE basic gene

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