ENST00000414276.6 APH1A

Information
Transcript ID
ENST00000414276.6
Genome
hg38
Position
chr1:150,265,399-150,269,209
Strand
-
CDS length
588
Amino acid length
196
Gene symbol
APH1A
Gene type
protein-coding
Gene description
aph-1 homolog A, gamma-secretase subunit
Gene Entrez Gene ID
51107
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
6 150,265,399 150,266,194
5 150,266,533 150,266,656
4 150,267,075 150,267,202
3 150,267,356 150,267,478
2 150,267,957 150,267,991
1 150,268,698 150,269,209
CDS
Exon number Type Start Stop
6 CDS 150,266,130 150,266,194
5 CDS 150,266,533 150,266,656
4 CDS 150,267,075 150,267,202
3 CDS 150,267,356 150,267,478
2 CDS 150,267,957 150,267,991
1 CDS 150,268,698 150,268,810
Other genome
Genome Chromosome Start End Links
hg19 chr1 150,237,799 150,241,609 Link
CDS sequence
ATGGGGGCTGCGGTGTTTTTCGGCTGCACTTTCGTCGCGTTCGGCCCGGCCTTCGCGCTTTTCTTGATCACTGTGGCTGGGGACCCGCTTCGCGTTATCATCCTGGTCGCAGGGAGGTGTTCCGCTTTGCCTACTACAAGCTGCTTAATTTCTGGTCTCTCCTTCGGTATCATCAGTGGTGTCTTCTCTGTTATCAATATTTTGGCTGATGCACTTGGGCCAGGTGTGGTTGGGATCCATGGAGACTCACCCTATTACTTCCTGACTTCAGCCTTTCTGACAGCAGCCATTATCCTGCTCCATACCTTTTGGGGAGTTGTGTTCTTTGATGCCTGTGAGAGGAGACGGTACTGGGCTTTGGGCCTGGTGGTTGGGAGTCACCTACTGACATCGGGACTGACATTCCTGAACCCCTGGTATGAGGCCAGCCTGCTGCCCATCTATGCAGTCACTGTTTCCATGGGGCTCTGGGCCTTCATCACAGCTGGAGGGTCCCTCCGAAGTATTCAGCGCAGCCTCTTGTGCCGACGGCAGGAGGACAGTCGGGTGATGGTGTATTCTGCCCTGCGCATCCCACCCGAGGACTGA
Amino sequence
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGRCSALPTTSCLISGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED*