ENST00000677599.1 PSEN2

Information
Transcript ID
ENST00000677599.1
Genome
hg19
Position
chr1:227,058,262-227,109,856
Strand
+
CDS length
1,416
Amino acid length
472
Gene symbol
PSEN2
Gene type
protein-coding
Gene description
presenilin 2
Gene Entrez Gene ID
5664
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
Search Word
Target data :
MGeND data only
Category :
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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
1 227,058,262 227,058,350
2 227,058,963 227,059,105
3 227,063,066 227,063,251
4 227,069,589 227,069,749
5 227,071,406 227,071,620
6 227,073,239 227,073,380
7 227,075,792 227,075,859
8 227,076,530 227,076,750
9 227,077,736 227,077,834
10 227,078,979 227,079,062
11 227,079,444 227,079,545
12 227,081,708 227,081,826
13 227,105,228 227,105,361
14 227,106,462 227,109,856
CDS
Exon number Type Start Stop
4 CDS 227,069,609 227,069,749
5 CDS 227,071,406 227,071,620
6 CDS 227,073,239 227,073,380
7 CDS 227,075,792 227,075,859
8 CDS 227,076,530 227,076,750
9 CDS 227,077,736 227,077,834
10 CDS 227,078,979 227,079,062
11 CDS 227,079,444 227,079,545
12 CDS 227,081,708 227,081,826
13 CDS 227,105,228 227,105,361
14 CDS 227,106,462 227,106,552
Other genome
Genome Chromosome Start End Links
hg38 chr1 226,870,561 226,922,155 Link
CDS sequence
ATGCTCACATTCATGGCCTCTGACAGCGAGGAAGAAGTGTGTGATGAGCGGACGTCCCTAATGTCGGCTGAGAGCCCCACGCCGCGCTCCTGCCAGGAGGGCAGGCAGGGCCCAGAGGATGGAGAGAACACTGCCCAGTGGAGAAGCCAGGAGAACGAGGAGGACGGTGAGGAGGACCCTGACCGCTATGTCTGTAGTGGGGTTCCCGGGCGGCCGCCAGGCCTGGAGGAAGAGCTGACCCTCAAATACGGAGCGAAGCACGTGATCATGCTGTTTGTGCCTGTCACTCTGTGCATGATCGTGGTGGTAGCCACCATCAAGTCTGTGCGCTTCTACACAGAGAAGAATGGACAGCTCATCTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGCGCCTCCTCAACTCCGTGCTGAACACCCTCATCATGATCAGCGTCATCGTGGTTATGACCATCTTCTTGGTGGTGCTCTACAAGTACCGCTGCTACAAGTTCATCCATGGCTGGTTGATCATGTCTTCACTGATGCTGCTGTTCCTCTTCACCTATATCTACCTTGGGGAAGTGCTCAAGACCTACAATGTGGCCATGGACTACCCCACCCTCTTGCTGACTGTCTGGAACTTCGGGGCAGTGGGCATGGTGTGCATCCACTGGAAGGGCCCTCTGGTGCTGCAGCAGGCCTACCTCATCATGATCAGTGCGCTCATGGCCCTAGTGTTCATCAAGTACCTCCCAGAGTGGTCCGCGTGGGTCATCCTGGGCGCCATCTCTGTGTATGATCTCGTGGCTGTGCTGTGTCCCAAAGGGCCTCTGAGAATGCTGGTAGAAACTGCCCAGGAGAGAAATGAGCCCATATTCCCTGCCCTGATATACTCATCTGCCATGGTGTGGACGGTTGGCATGGCGAAGCTGGACCCCTCCTCTCAGGGTGCCCTCCAGCTCCCCTACGACCCGGAGATGGAAGAAGACTCCTATGACAGTTTTGGGGAGCCTTCATACCCCGAAGTCTTTGAGCCTCCCTTGACTGGCTACCCAGGGGAGGAGCTGGAGGAAGAGGAGGAAAGGGGCGTGAAGCTTGGCCTCGGGGACTTCATCTTCTACAGTGTGCTGGTGGGCAAGGCGGCTGCCACGGGCAGCGGGGACTGGAATACCACGCTGGCCTGCTTCGTGGCCATCCTCATTATGGCGTCTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATTTGGCTCACTGTGGCCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCATACCAGTTCAACTTTTTCAGATTCCACGTGCACACAGCTGGGGGACATCTCCCAGACTCCCCTGCAGCCAGCTGTGGCTATGTCATTGAGGGCCAGCCAGTGAAGCGTGGGCAGAAGTGA
Amino sequence
MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIMASHSCCPGWSAMVRFGSLWPLPPGFKRFSCLSLPYQFNFFRFHVHTAGGHLPDSPAASCGYVIEGQPVKRGQK*