Human (GRCh38.p14) ▼ 
Summary
SequenceProtein InformationGenetic VariationVariant tableVariant imageHaplotypesPopulation comparisonComparison imageExternal ReferencesSupporting evidenceID History.
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Source:HGNC Symbol;Acc:HGNC:18817]
BLOC2S3, FLJ22501
Chromosome 10: 102,065,349-102,068,036 forward strand.
This transcript has 1 exon, is annotated with 13 domains and features, is associated with 1964 variant alleles and maps to 222 oligo probes.
This transcript is a product of gene ENSG00000166189.8 Show transcript tableHide transcript table
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Exons: 1, Coding exons: 1, Transcript length: 2,688 bps, Translation length: 775 residues
This MANE Select transcript contains ENSP00000299238 and matches to NM_024747.6 and NP_079023.2
This transcript corresponds to the following Uniprot identifiers: Q86YV9
This transcript is a member of the Human CCDS set: CCDS7527
TSL:NA
ENST00000299238.7
Protein coding
Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.
This transcript is a member of the Gencode basic gene set.
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Ensembl release 111 - January 2024 ©
EMBL-EBI
EMBL-EBI
http://useast.ensembl.org
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