ENST00000679575.1 SNAP47

Information
Transcript ID
ENST00000679575.1
Genome
hg19
Position
chr1:227,916,300-227,969,522
Strand
+
CDS length
1,260
Amino acid length
420
Gene symbol
SNAP47
Gene type
protein-coding
Gene description
synaptosome associated protein 47
Gene Entrez Gene ID
116841
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
1 227,916,300 227,916,487
2 227,919,286 227,919,448
3 227,920,090 227,921,219
4 227,935,393 227,935,934
5 227,946,696 227,947,186
6 227,954,660 227,954,784
7 227,968,228 227,969,522
CDS
Exon number Type Start Stop
4 CDS 227,935,438 227,935,934
5 CDS 227,946,696 227,947,186
6 CDS 227,954,660 227,954,784
7 CDS 227,968,228 227,968,374
Other genome
Genome Chromosome Start End Links
hg38 chr1 227,728,599 227,781,821 Link
CDS sequence
ATGAGCAGGGATGTCTGCATCCACACCTGGCCGTGCACCTACTACCTGGAGCCCAAGAGGCGATGGGTTACTGGACAGCTGTCCTTAACATCGCTGTCGCTCAGGTTCATGACTGACAGCACTGGAGAGATTCTGGTCAGCTTCCCCCTCTCCAGCATAGTTGAGATCAAGAAGGAGGCTTCACATTTTATCTTCAGCTCCATCACCATCCTGGAGAAGGGCCATGCCAAGCACTGGTTCAGCTCCCTGCGGCCAAGTCGAAATGTGGTCTTCAGCATCATCGAGCATTTCTGGAGGGAGCTGCTGCTGTCTCAGCCTGGAGCCGTGGCAGACGCATCTGTCCCAAGGACCCGGGGCGAGGAGCTGACGGGACTCATGGCTGGATCCCAGAAACGCCTGGAGGACACGGCGAGGGTCCTGCACCACCAGGGCCAGCAGCTGGACAGCGTCATGAGAGGCCTGGACAAGATGGAGTCAGACCTGGAGGTGGCGGACAGATTGCTGACAGAACTGGAATCTCCTGCTTGGTGGCCCTTTAGCTCCAAGCTTTGGAAGACACCACCGGAAACAAAGCCCAGGGAAGATGTCTCCATGACCAGTTGTGAACCCTTTGGGAAAGAAGGGATACTGATAAAAATTCCTGCTGTTATTTCCCACAGAACAGAGTCTCACGTTAAACCAGGGAGGCTCACCGTCCTTGTGTCTGGGTTGGAAATACATGACTCCAGTTCTTTGCTCATGCACAGGTTTGAAAGAGAAGACGTGGACGACATCAAGGTCCACTCACCTTACGAAATTAGCATCCGCCAGCGGTTTATTGGAAAGCCAGACATGGCCTATCGTTTGATATCTGCCAAGATGCCAGAGGTTATCCCCATTTTAGAAGTGCAGTTCAGCAAGAAGATGGAGCTGTTAGAAGATGCATTGGTGCTCAGAAGCGCAAGAACCTCTTCCCCCGCAGAGAAGAGCTGCTCAGTCTGGCATGCAGCATCTGGGCTGATGGGCCGTACCCTGCACCGTGAGCCACCCGCAGGAGACCAGGAGGGCACAGCACTGCACCTGCAGACAAGCCTGCCAGCCCTTTCTGAGGCAGATACCCAGGAACTAACCCAGATCCTGAGGAGGATGAAGGGGCTGGCCCTGGAGGCCGAGAGTGAGCTGGAGAGACAAGACGAAGCCCTGGATGGCGTTGCAGCAGCTGTGGACAGGGCAACCTTGACCATCGACAAGCACAACAGGCGGATGAAGAGGCTGACCTAG
Amino sequence
MSRDVCIHTWPCTYYLEPKRRWVTGQLSLTSLSLRFMTDSTGEILVSFPLSSIVEIKKEASHFIFSSITILEKGHAKHWFSSLRPSRNVVFSIIEHFWRELLLSQPGAVADASVPRTRGEELTGLMAGSQKRLEDTARVLHHQGQQLDSVMRGLDKMESDLEVADRLLTELESPAWWPFSSKLWKTPPETKPREDVSMTSCEPFGKEGILIKIPAVISHRTESHVKPGRLTVLVSGLEIHDSSSLLMHRFEREDVDDIKVHSPYEISIRQRFIGKPDMAYRLISAKMPEVIPILEVQFSKKMELLEDALVLRSARTSSPAEKSCSVWHAASGLMGRTLHREPPAGDQEGTALHLQTSLPALSEADTQELTQILRRMKGLALEAESELERQDEALDGVAAAVDRATLTIDKHNRRMKRLT*