ENST00000436638.6 ECHDC1

Information
Transcript ID
ENST00000436638.6
Genome
hg19
Position
chr6:127,611,014-127,652,173
Strand
-
CDS length
1,026
Amino acid length
342
Gene symbol
ECHDC1
Gene type
protein-coding
Gene description
ethylmalonyl-CoA decarboxylase 1
Gene Entrez Gene ID
55862
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
7 127,611,014 127,611,422
6 127,635,961 127,636,041
5 127,637,079 127,637,119
4 127,637,595 127,637,647
3 127,647,641 127,647,719
2 127,648,147 127,648,289
1 127,651,954 127,652,173
CDS
Exon number Type Start Stop
7 CDS 127,611,014 127,611,422
6 CDS 127,635,961 127,636,041
5 CDS 127,637,079 127,637,119
4 CDS 127,637,595 127,637,647
3 CDS 127,647,641 127,647,719
2 CDS 127,648,147 127,648,289
1 CDS 127,651,954 127,652,173
Other genome
Genome Chromosome Start End Links
hg38 chr6 127,289,869 127,331,028 Link
CDS sequence
ATGGCGAAAAGTCTTTTGAAGACAGCCTCTCTGTCTGGAAGGACAAAATTGCTACATCAAACAGGATTGTCACTTTATAGTACATCCCATGGATTTTATGAGGAAGAAGTGAAAAAAACACTTCAGCAGTTTCCTGGTGGATCCATTGACCTTCAGAAGGAAGACAATGGCATTGGCATTCTTACTCTGAACAATCCAAGTAGAATGAATGCCTTTTCAGGTGTTATGATGCTACAACTTCTGGAAAAAGTAATTGAATTGGAAAATTGGACAGAGGGGAAAGGCCTCATTGTCCGTGGGGCAAAAAATACTTTCTCTTCAGGATCTGATCTGAATGCTGTGAAATCACTAGGAACTCCAGAGGAAAGTTGCAGATGGAATACAGAGTTCCTGTACACCCTGCATCCAGTTTCCCCTTTTATTAACATCTTATATTCCTATGGATGGAATGGCCGTATGCATGTTCATGCAAAACACCTTAACAAGATTTATGAGGTAAAGAAGCAAAGAGGAAAAATTCTTCTTGGCCTATCAAGACTTCCTTTAATAAGTGTTGCGCTGGTTCAAGGTTGGGCATTGGGTGGAGGAGCAGAATTTACTACAGCATGTGATTTCAGGTTAATGACTCCAGAGAGTAAGATCAGATTCGTCCACAAAGAGATGGGCATAATACCAAGCTGGGGTGGCACCACCCGGCTAGTTGAAATAATCGGAAGTAGACAAGCTCTCAAAGTGTTGAGTGGGGCCCTTAAACTGGATTCAAAAAATGCTCTAAACATAGGAATGGTTGAAGAGGTCTTGCAGTCTTCAGATGAAACTAAATCTCTAGAAGAGGCACAAGAATGGCTAAAGCAATTCATCCAAGGGCCACCGGAAGTAATTAGAGCTTTGAAAAAATCTGTTTGTTCAGGCAGAGAGCTATATTTGGAGGAAGCATTACAGAACGAAAGAGATCTTTTAGGAACAGTTTGGGGTGGGCCTGCAAATTTAGAGGCTATTGCTAAGAAAGGAAAATTTAATAAATAA
Amino sequence
MAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPEESCRWNTEFLYTLHPVSPFINILYSYGWNGRMHVHAKHLNKIYEVKKQRGKILLGLSRLPLISVALVQGWALGGGAEFTTACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALNIGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLGTVWGGPANLEAIAKKGKFNK*