Gene: BLOC1S3 ENSG00000189114

Description

biogenesis of lysosomal organelles complex-1, subunit 3 [Source:HGNC Symbol;Acc:20914]

Gene Synonyms

BLOS3, HPS8, RP

Location

GRCh37:CM000681.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000433642.2	BLOC1S3-001	2601	202aa	ENSP00000393840.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12656	K7ELZ0 K7EN58 Q6QNY0	NM_212550.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000587722.1	BLOC1S3-002	732	202aa	ENSP00000468281.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12656	K7ELZ0 K7EN58 Q6QNY0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000592910.1	BLOC1S3-003	469	78aa	ENSP00000466798.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7ELZ0 K7EN58	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000588362.1	BLOC1S3-004	473	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary