Gene: HPS6 ENSG00000166189

Description

Hermansky-Pudlak syndrome 6 [Source:HGNC Symbol;Acc:18817]

Gene Synonyms

FLJ22501, RP11-302K17.1

Location

GRCh37:CM000672.1

About this gene

This gene has 1 transcript (splice variant) and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000299238.5	HPS6-001	2646	775aa	ENSP00000299238.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7527	Q86YV9	NM_024747.5	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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