ENST00000551926.1 BLOC1S1

Information
Transcript ID
ENST00000551926.1
Genome
hg38
Position
chr12:55,716,513-55,719,343
Strand
+
CDS length
195
Amino acid length
65
Gene symbol
BLOC1S1
Gene type
protein-coding
Gene description
biogenesis of lysosomal organelles complex 1 subunit 1
Gene Entrez Gene ID
2647
Variants

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MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 55,716,513 55,716,717
2 55,716,933 55,717,005
3 55,719,091 55,719,343
CDS
Exon number Type Start Stop
3 CDS 55,719,107 55,719,301
Other genome
Genome Chromosome Start End Links
hg19 chr12 56,110,297 56,113,127 Link
CDS sequence
ATGAACCAGAGAAAGCTGGACCATGAGGTGAAGACCCTACAGGTCCAGGCTGCCCAATTTGCCAAGCAGACAGGCCAGTGGATCGGAATGGTGGAGAACTTCAACCAGGCACTCAAGGTGGGCCATACTCCCTACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAG
Amino sequence
MNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKVGHTPYLTTPILGPHWLPPVRLPQV*