ENST00000549147.1 BLOC1S1

Information
Transcript ID
ENST00000549147.1
Genome
hg19
Position
chr12:56,109,822-56,113,871
Strand
+
CDS length
429
Amino acid length
143
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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Target data :
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 56,109,822 56,109,980
2 56,110,717 56,110,789
3 56,112,875 56,113,871
CDS
Exon number Type Start Stop
1 CDS 56,109,836 56,109,980
2 CDS 56,110,717 56,110,789
3 CDS 56,112,875 56,113,085
Other genome
Genome Chromosome Start End Links
hg38 chr12 55,716,038 55,720,087 Link
CDS sequence
ATGGCCCCGGGGAGCCGAGGTGAGCGTTCCAGCTTCCGGAGCCGGAGGGGGCCCGGCGTACCCAGCCCCCAGCCCGACGTGACCATGCTGTCCCGCCTCCTAAAAGAACACCAGGCCAAGCAGAATGAACGCAAGGAGCTGCAGGAAAAGAGGAGGCGAGAGGCTATCACTGCAGCGACCTGCCTGACAGAAGCTTTGGTGGATCACCTCAATGTGGGTGTGGCCCAGGCCTACATGAACCAGAGAAAGCTGGACCATGAGGTGAAGACCCTACAGGTCCAGGCTGCCCAATTTGCCAAGCAGACAGGCCAGTGGATCGGAATGGTGGAGAACTTCAACCAGGCACTCAAGGTGGGCCATACTCCCTACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAG
Amino sequence
MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKVGHTPYLTTPILGPHWLPPVRLPQV*