ENST00000539041.5 SMPDL3A

Information
Transcript ID
ENST00000539041.5
Genome
hg19
Position
chr6:123,110,194-123,130,862
Strand
+
CDS length
969
Amino acid length
323
Gene symbol
SMPDL3A
Gene type
protein-coding
Gene description
sphingomyelin phosphodiesterase acid like 3A
Gene Entrez Gene ID
10924
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Search word :
Filtering :
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 :
Search word :
Filtering :
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
1 123,110,194 123,110,603
2 123,117,969 123,118,113
3 123,122,455 123,122,551
4 123,124,809 123,124,978
5 123,126,054 123,126,234
6 123,127,378 123,127,502
7 123,130,236 123,130,862
CDS
Exon number Type Start Stop
2 CDS 123,118,036 123,118,113
3 CDS 123,122,455 123,122,551
4 CDS 123,124,809 123,124,978
5 CDS 123,126,054 123,126,234
6 CDS 123,127,378 123,127,502
7 CDS 123,130,236 123,130,553
Other genome
Genome Chromosome Start End Links
hg38 chr6 122,789,049 122,809,717 Link
CDS sequence
ATGACAACCACCATCCAGAGTCTCTTTCCAAATCTCCAGGTTTTCCCTGCGCTGGGTAATCATGACTATTGGCCACAGGATCAACTGCCTGTAGTCACCAGTAAAGTGTACAATGCAGTAGCAAACCTCTGGAAACCATGGCTAGATGAAGAAGCTATTAGTACTTTAAGGAAAGGTGGTTTTTATTCACAGAAAGTTACAACTAATCCAAACCTTAGGATCATCAGTCTAAACACAAACTTGTACTACGGCCCAAATATAATGACACTGAACAAGACTGACCCAGCCAACCAGTTTGAATGGCTAGAAAGTACATTGAACAACTCTCAGCAGAATAAGGAGAAGGTGTATATCATAGCACATGTTCCAGTGGGGTATCTGCCATCTTCACAGAACATCACAGCAATGAGAGAATACTATAATGAGAAATTGATAGATATTTTTCAAAAATACAGTGATGTCATTGCAGGACAATTTTATGGACACACTCACAGAGACAGCATTATGGTTCTTTCAGATAAAAAAGGAAGTCCAGTAAATTCTTTGTTTGTGGCTCCTGCTGTTACACCAGTGAAGAGTGTTTTAGAAAAACAGACCAACAATCCTGGTATCAGACTGTTTCAGTATGATCCTCGTGATTATAAATTATTGGATATGTTGCAGTATTACTTGAATCTGACAGAGGCGAATCTAAAGGGAGAGTCCATCTGGAAGCTGGAGTATATCCTGACCCAGACCTACGACATTGAAGATTTGCAGCCGGAAAGTTTATATGGATTAGCTAAACAATTTACAATCCTAGACAGTAAGCAGTTTATAAAATACTACAATTACTTCTTTGTGAGTTATGACAGCAGTGTAACATGTGATAAGACATGTAAGGCCTTTCAGATTTGTGCAATTATGAATCTTGATAATATTTCCTATGCAGATTGCCTCAAACAGCTTTATATAAAGCACAATTACTAG
Amino sequence
MTTTIQSLFPNLQVFPALGNHDYWPQDQLPVVTSKVYNAVANLWKPWLDEEAISTLRKGGFYSQKVTTNPNLRIISLNTNLYYGPNIMTLNKTDPANQFEWLESTLNNSQQNKEKVYIIAHVPVGYLPSSQNITAMREYYNEKLIDIFQKYSDVIAGQFYGHTHRDSIMVLSDKKGSPVNSLFVAPAVTPVKSVLEKQTNNPGIRLFQYDPRDYKLLDMLQYYLNLTEANLKGESIWKLEYILTQTYDIEDLQPESLYGLAKQFTILDSKQFIKYYNYFFVSYDSSVTCDKTCKAFQICAIMNLDNISYADCLKQLYIKHNY*