ENST00000590645.1 ABCA6

Information
Transcript ID
ENST00000590645.1
Genome
hg19
Position
chr17:67,131,371-67,138,029
Strand
-
CDS length
558
Amino acid length
186
Gene symbol
ABCA6
Gene type
protein-coding
Gene description
ATP binding cassette subfamily A member 6
Gene Entrez Gene ID
23460
Variants

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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
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
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
4 67,131,371 67,132,391
3 67,133,437 67,133,641
2 67,136,749 67,136,889
1 67,137,886 67,138,029
CDS
Exon number Type Start Stop
4 CDS 67,132,135 67,132,391
3 CDS 67,133,437 67,133,641
2 CDS 67,136,749 67,136,844
Other genome
Genome Chromosome Start End Links
hg38 chr17 69,135,230 69,141,888 Link
CDS sequence
ATGAATATGAAACAGAAAAGCGTGTATCAGCAAACCAAAGCACTTCTGTGCAAGAATTTTCTTAAGAAATGGAGGATGAAAAGAGAGAGCTTATTGGAATGGGGCCTCTCAATACTTCTAGGACTGTGTATTGCTCTGTTTTCCAGTTCCATGAGAAATGTCCAGTTTCCTGGAATGGCTCCTCAGAATCTGGGAAGGGTAGATAAATTTAATAGCTCTTCTTTAATGGTTGTGTATACACCAATATCTAATTTAACCCAGCAGATAATGAATAAAACAGCACTTGCTCCTCTTTTGAAAGGAACAAGTGTCATTGGGGCACCAAATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGGATATAACAGTCCACTTTGGAAAGAAGATTTCTCAGGTGACTTTCCATATCAAATATCATTATGGAATTTTTCATGTTTTCAACATAAAGAACAGAGGAGGTTGGGCAACAGAGATGCTTTCAATGACACATGA
Amino sequence
MNMKQKSVYQQTKALLCKNFLKKWRMKRESLLEWGLSILLGLCIALFSSSMRNVQFPGMAPQNLGRVDKFNSSSLMVVYTPISNLTQQIMNKTALAPLLKGTSVIGAPNKTHMDEILLENLPYAMGIIFNETFSYKLIFFQGYNSPLWKEDFSGDFPYQISLWNFSCFQHKEQRRLGNRDAFNDT*