ENST00000368440.5 SMPDL3A

Information
Transcript ID
ENST00000368440.5
Genome
hg38
Position
chr6:122,789,258-122,809,720
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
Search Word
Target data :
MGeND data only
Category :
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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
1 122,789,258 122,789,458
2 122,795,677 122,795,890
3 122,796,824 122,796,968
4 122,801,310 122,801,406
5 122,803,664 122,803,833
6 122,804,909 122,805,089
7 122,806,233 122,806,357
8 122,809,091 122,809,720
CDS
Exon number Type Start Stop
1 CDS 122,789,347 122,789,458
2 CDS 122,795,677 122,795,890
3 CDS 122,796,824 122,796,968
4 CDS 122,801,310 122,801,406
5 CDS 122,803,664 122,803,833
6 CDS 122,804,909 122,805,089
7 CDS 122,806,233 122,806,357
8 CDS 122,809,091 122,809,408
Other genome
Genome Chromosome Start End Links
hg19 chr6 123,110,403 123,130,865 Link
CDS sequence
ATGGCGCTGGTGCGCGCACTCGTCTGCTGCCTGCTGACTGCCTGGCACTGCCGCTCCGGCCTCGGGCTGCCCGTGGCGCCCGCAGGCGGCAGGAATCCTCCTCCGGCGATAGGACAGTTTTGGCATGTGACTGACTTACACTTAGACCCTACTTACCACATCACAGATGACCACACAAAAGTGTGTGCTTCATCTAAAGGTGCAAATGCCTCCAACCCTGGCCCTTTTGGAGATGTTCTGTGTGATTCTCCATATCAACTTATTTTGTCAGCATTTGATTTTATTAAAAATTCTGGACAAGAAGCATCTTTCATGATATGGACAGGGGATAGCCCACCTCATGTTCCTGTACCTGAACTCTCAACAGACACTGTTATAAATGTGATCACTAATATGACAACCACCATCCAGAGTCTCTTTCCAAATCTCCAGGTTTTCCCTGCGCTGGGTAATCATGACTATTGGCCACAGGATCAACTGCCTGTAGTCACCAGTAAAGTGTACAATGCAGTAGCAAACCTCTGGAAACCATGGCTAGATGAAGAAGCTATTAGTACTTTAAGGAAAGGTGGTTTTTATTCACAGAAAGTTACAACTAATCCAAACCTTAGGATCATCAGTCTAAACACAAACTTGTACTACGGCCCAAATATAATGACACTGAACAAGACTGACCCAGCCAACCAGTTTGAATGGCTAGAAAGTACATTGAACAACTCTCAGCAGAATAAGGAGAAGGTGTATATCATAGCACATGTTCCAGTGGGGTATCTGCCATCTTCACAGAACATCACAGCAATGAGAGAATACTATAATGAGAAATTGATAGATATTTTTCAAAAATACAGTGATGTCATTGCAGGACAATTTTATGGACACACTCACAGAGACAGCATTATGGTTCTTTCAGATAAAAAAGGAAGTCCAGTAAATTCTTTGTTTGTGGCTCCTGCTGTTACACCAGTGAAGAGTGTTTTAGAAAAACAGACCAACAATCCTGGTATCAGACTGTTTCAGTATGATCCTCGTGATTATAAATTATTGGATATGTTGCAGTATTACTTGAATCTGACAGAGGCGAATCTAAAGGGAGAGTCCATCTGGAAGCTGGAGTATATCCTGACCCAGACCTACGACATTGAAGATTTGCAGCCGGAAAGTTTATATGGATTAGCTAAACAATTTACAATCCTAGACAGTAAGCAGTTTATAAAATACTACAATTACTTCTTTGTGAGTTATGACAGCAGTGTAACATGTGATAAGACATGTAAGGCCTTTCAGATTTGTGCAATTATGAATCTTGATAATATTTCCTATGCAGATTGCCTCAAACAGCTTTATATAAAGCACAATTACTAG
Amino sequence
MALVRALVCCLLTAWHCRSGLGLPVAPAGGRNPPPAIGQFWHVTDLHLDPTYHITDDHTKVCASSKGANASNPGPFGDVLCDSPYQLILSAFDFIKNSGQEASFMIWTGDSPPHVPVPELSTDTVINVITNMTTTIQSLFPNLQVFPALGNHDYWPQDQLPVVTSKVYNAVANLWKPWLDEEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNIMTLNKTDPANQFEWLESTLNNSQQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLIDIFQKYSDVIAGQFYGHTHRDSIMVLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPGIRLFQYDPRDYKLLDMLQYYLNLTEANLKGESIWKLEYILTQTYDIEDLQPESLYGLAKQFTILDSKQFIKYYNYFFVSYDSSVTCDKTCKAFQICAIMNLDNISYADCLKQLYIKHNY*