ENST00000368440.5 SMPDL3A

Information
Transcript ID
ENST00000368440.5
Genome
hg19
Position
chr6:123,110,403-123,130,865
Strand
+
CDS length
1,362
Amino acid length
454
Gene symbol
SMPDL3A
Gene type
protein-coding
Gene description
sphingomyelin phosphodiesterase acid like 3A
Gene Entrez Gene ID
10924
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
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
1 123,110,403 123,110,603
2 123,116,822 123,117,035
3 123,117,969 123,118,113
4 123,122,455 123,122,551
5 123,124,809 123,124,978
6 123,126,054 123,126,234
7 123,127,378 123,127,502
8 123,130,236 123,130,865
CDS
Exon number Type Start Stop
1 CDS 123,110,492 123,110,603
2 CDS 123,116,822 123,117,035
3 CDS 123,117,969 123,118,113
4 CDS 123,122,455 123,122,551
5 CDS 123,124,809 123,124,978
6 CDS 123,126,054 123,126,234
7 CDS 123,127,378 123,127,502
8 CDS 123,130,236 123,130,553
Other genome
Genome Chromosome Start End Links
hg38 chr6 122,789,258 122,809,720 Link
CDS sequence
ATGGCGCTGGTGCGCGCACTCGTCTGCTGCCTGCTGACTGCCTGGCACTGCCGCTCCGGCCTCGGGCTGCCCGTGGCGCCCGCAGGCGGCAGGAATCCTCCTCCGGCGATAGGACAGTTTTGGCATGTGACTGACTTACACTTAGACCCTACTTACCACATCACAGATGACCACACAAAAGTGTGTGCTTCATCTAAAGGTGCAAATGCCTCCAACCCTGGCCCTTTTGGAGATGTTCTGTGTGATTCTCCATATCAACTTATTTTGTCAGCATTTGATTTTATTAAAAATTCTGGACAAGAAGCATCTTTCATGATATGGACAGGGGATAGCCCACCTCATGTTCCTGTACCTGAACTCTCAACAGACACTGTTATAAATGTGATCACTAATATGACAACCACCATCCAGAGTCTCTTTCCAAATCTCCAGGTTTTCCCTGCGCTGGGTAATCATGACTATTGGCCACAGGATCAACTGCCTGTAGTCACCAGTAAAGTGTACAATGCAGTAGCAAACCTCTGGAAACCATGGCTAGATGAAGAAGCTATTAGTACTTTAAGGAAAGGTGGTTTTTATTCACAGAAAGTTACAACTAATCCAAACCTTAGGATCATCAGTCTAAACACAAACTTGTACTACGGCCCAAATATAATGACACTGAACAAGACTGACCCAGCCAACCAGTTTGAATGGCTAGAAAGTACATTGAACAACTCTCAGCAGAATAAGGAGAAGGTGTATATCATAGCACATGTTCCAGTGGGGTATCTGCCATCTTCACAGAACATCACAGCAATGAGAGAATACTATAATGAGAAATTGATAGATATTTTTCAAAAATACAGTGATGTCATTGCAGGACAATTTTATGGACACACTCACAGAGACAGCATTATGGTTCTTTCAGATAAAAAAGGAAGTCCAGTAAATTCTTTGTTTGTGGCTCCTGCTGTTACACCAGTGAAGAGTGTTTTAGAAAAACAGACCAACAATCCTGGTATCAGACTGTTTCAGTATGATCCTCGTGATTATAAATTATTGGATATGTTGCAGTATTACTTGAATCTGACAGAGGCGAATCTAAAGGGAGAGTCCATCTGGAAGCTGGAGTATATCCTGACCCAGACCTACGACATTGAAGATTTGCAGCCGGAAAGTTTATATGGATTAGCTAAACAATTTACAATCCTAGACAGTAAGCAGTTTATAAAATACTACAATTACTTCTTTGTGAGTTATGACAGCAGTGTAACATGTGATAAGACATGTAAGGCCTTTCAGATTTGTGCAATTATGAATCTTGATAATATTTCCTATGCAGATTGCCTCAAACAGCTTTATATAAAGCACAATTACTAG
Amino sequence
MALVRALVCCLLTAWHCRSGLGLPVAPAGGRNPPPAIGQFWHVTDLHLDPTYHITDDHTKVCASSKGANASNPGPFGDVLCDSPYQLILSAFDFIKNSGQEASFMIWTGDSPPHVPVPELSTDTVINVITNMTTTIQSLFPNLQVFPALGNHDYWPQDQLPVVTSKVYNAVANLWKPWLDEEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNIMTLNKTDPANQFEWLESTLNNSQQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLIDIFQKYSDVIAGQFYGHTHRDSIMVLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPGIRLFQYDPRDYKLLDMLQYYLNLTEANLKGESIWKLEYILTQTYDIEDLQPESLYGLAKQFTILDSKQFIKYYNYFFVSYDSSVTCDKTCKAFQICAIMNLDNISYADCLKQLYIKHNY*