Information

Transcript ID: ENST00000548925.6
Genome: hg19
Position: chr12:56,109,830-56,113,487
Strand: +
CDS length: 462
Amino acid length: 154
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 All data

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Target data	:	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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Exon

Exon number	Start	Stop
1	56,109,830	56,109,980
2	56,110,717	56,110,789
3	56,112,875	56,113,007
4	56,113,283	56,113,487

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	56,113,007
4	CDS	56,113,283	56,113,393

Other genome

Genome	Chromosome	Start	End	Links
hg38	chr12	55,716,046	55,719,703	Link

CDS sequence

ATGGCCCCGGGGAGCCGAGGTGAGCGTTCCAGCTTCCGGAGCCGGAGGGGGCCCGGCGTACCCAGCCCCCAGCCCGACGTGACCATGCTGTCCCGCCTCCTAAAAGAACACCAGGCCAAGCAGAATGAACGCAAGGAGCTGCAGGAAAAGAGGAGGCGAGAGGCTATCACTGCAGCGACCTGCCTGACAGAAGCTTTGGTGGATCACCTCAATGTGGGTGTGGCCCAGGCCTACATGAACCAGAGAAAGCTGGACCATGAGGTGAAGACCCTACAGGTCCAGGCTGCCCAATTTGCCAAGCAGACAGGCCAGTGGATCGGAATGGTGGAGAACTTCAACCAGGCACTCAAGGAAATTGGGGATGTGGAGAACTGGGCTCGGAGCATCGAGCTGGACATGCGCACCATTGCCACTGCACTGGAATATGTCTACAAAGGGCAGCTGCAGTCTGCCCCTTCCTAG

Amino sequence

MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATALEYVYKGQLQSAPS*

ENST00000548925.6 BLOC1S1

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