ENST00000542120.6 TBC1D30

Information
Transcript ID
ENST00000542120.6
Genome
hg19
Position
chr12:65,174,296-65,274,812
Strand
+
CDS length
2,775
Amino acid length
925
Gene symbol
TBC1D30
Gene type
protein-coding
Gene description
TBC1 domain family member 30
Gene Entrez Gene ID
23329
Variants

Display target variant


Search Word
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 :
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 65,174,296 65,175,066
2 65,179,661 65,179,825
3 65,221,615 65,221,676
4 65,222,224 65,222,289
5 65,224,157 65,224,282
6 65,225,899 65,226,084
7 65,230,270 65,230,438
8 65,232,463 65,232,631
9 65,237,160 65,237,265
10 65,258,448 65,258,560
11 65,260,544 65,260,683
12 65,264,382 65,264,588
13 65,268,781 65,274,812
CDS
Exon number Type Start Stop
1 CDS 65,174,589 65,175,066
2 CDS 65,179,661 65,179,825
3 CDS 65,221,615 65,221,676
4 CDS 65,222,224 65,222,289
5 CDS 65,224,157 65,224,282
6 CDS 65,225,899 65,226,084
7 CDS 65,230,270 65,230,438
8 CDS 65,232,463 65,232,631
9 CDS 65,237,160 65,237,265
10 CDS 65,258,448 65,258,560
11 CDS 65,260,544 65,260,683
12 CDS 65,264,382 65,264,588
13 CDS 65,268,781 65,269,568
Other genome
Genome Chromosome Start End Links
hg38 chr12 64,780,516 64,881,032 Link
CDS sequence
ATGGACGTCCTTCCCACCGGCGGGGGCCGCCCGGGGCTCCGGACGGAGCTGGAATTCCGCGGCGGCGGTGGCGAGGCGAGGCTGGAGAGTCAGGAGGAAGAAACGATTCCTGCAGCTCCCCCAGCCCCGCGCCTCCGGGGAGCGGCGGAGCGGCCGCGGCGCTCCCGGGACACGTGGGACGGCGATGAGGACACGGAGCCCGGCGAGGCGTGCGGCGGCCGCACAAGCCGCACGGCGTCCCTGGTGAGCGGGCTGCTCAACGAGCTGTACAGCTGCACAGAGGAGGAGGAGGCGGCGGGCGGGGGCCGCGGGGCCGAGGGCCGCCGGCGGCGCCGCGACAGCCTCGACAGCTCCACCGAGGCCTCGGGCTCCGACGTGGTCCTGGGCGGCCGCAGCGGTGCCGGCGACTCCCGCGTGCTGCAGGAGCTGCAGGAGCGACCGAGCCAGCGGCATCAGATGCTGTACCTGCGGCAGAAAGACGCTAATGAACTGAAGACGATCCTTCGAGAGCTAAAGTACAGAATTGGCATCCAGTCGGCCAAGTTACTTCGGCATCTGAAGCAGAAAGATAGGCTTCTGCATAAAGTGCAGAGGAACTGTGATATTGTGACTGCCTGCTTGCAGGCTGTGTCACAGAAGAGAAGAGTTGATACCAAGTTGAAATTCACTCTTGAGCCATCTTTAGGTCAAAATGGTTTTCAGCAGTGGTACGATGCTCTCAAGGCAGTTGCCAGGCTATCCACAGGAATACCAAAGGAATGGAGGAGAAAGGTTTGGTTGACCTTGGCAGATCATTATTTGCACAGTATAGCCATTGACTGGGACAAAACCATGCGCTTCACTTTCAATGAAAGGAGTAATCCTGATGATGACTCCATGGGAATTCAGATAGTCAAGGACCTTCACCGCACAGGCTGTAGTTCTTACTGTGGCCAGGAGGCTGAGCAGGACAGGGTTGTGTTGAAGCGGGTGCTGCTGGCCTATGCCCGATGGAACAAAACTGTTGGGTACTGCCAAGGCTTTAACATCCTGGCTGCACTAATTCTGGAAGTGATGGAAGGCAATGAAGGGGATGCCCTGAAAATTATGATTTACCTTATTGATAAGGTACTTCCCGAAAGCTATTTCGTCAATAATCTCCGGGCATTGTCTGTGGATATGGCTGTCTTCAGAGACCTTTTAAGAATGAAGCTGCCGGAATTATCTCAGCACCTGGATACTCTTCAGAGAACTGCAAACAAAGAAAGTGGAGGTGGATATGAGCCCCCACTTACAAATGTCTTCACGATGCAGTGGTTTCTGACTCTCTTTGCCACATGCCTCCCTAATCAGACCGTTTTAAAGATCTGGGATTCAGTCTTCTTTGAAGGTTCAGAAATCATCCTAAGGGTGTCGCTGGCTATCTGGGCAAAATTAGGAGAGCAGATAGAATGTTGTGAAACAGCAGATGAATTCTACAGCACCATGGGGCGCCTTACCCAGGAGATGCTAGAGAATGATCTTCTGCAAAGCCATGAACTCATGCAGACTGTTTATTCCATGGCTCCGTTCCCTTTCCCACAATTGGCAGAGTTGAGGGAAAAATACACCTACAACATTACACCGTTCCCAGCCACAGTTAAACCCACCTCAGTTTCTGGACGACATAGTAAGGCCAGAGACAGTGATGAAGAGAATGACCCAGACGATGAGGATGCTGTCGTTAATGCAGTGGGGTGTCTTGGACCTTTTAGTGGGTTCCTGGCTCCTGAACTGCAGAAGTACCAAAAACAAATTAAAGAGCCAAATGAGGAGCAGAGTCTGAGATCTAATAACATTGCAGAGCTGAGTCCAGGAGCAATCAATTCCTGTCGAAGTGAATACCATGCAGCTTTTAACAGTATGATGATGGAACGCATGACCACAGATATCAATGCACTGAAGCGGCAGTACTCTCGAATTAAAAAGAAGCAACAGCAGCAGGTTCATCAGGTGTACATCAGGGCAGACAAAGGGCCAGTGACCAGCATTCTCCCGTCTCAGGTAAACAGTTCTCCAGTTATAAACCACCTTCTTTTAGGAAAGAAGATGAAAATGACTAACAGAGCTGCCAAGAATGCTGTCATCCACATCCCTGGTCACACAGGAGGGAAAATATCTCCTGTCCCCTACGAAGACCTTAAGACGAAGCTCAACTCCCCGTGGCGAACTCACATCCGAGTCCACAAAAAGAACATGCCAAGGACCAAGAGTCATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAGAACGAGGCCAGCAAGACCAATGGGCTGGGGGCAGCAGAGGCATTCCCCTCTGGTTGTACAGCGACAGCTGGGAGAGAAGGCAGCAGCCCTGAAGGCAGTACCAGGAGGACGATCGAGGGGCAGTCTCCGGAGCCGGTGTTCGGAGATGCTGATGTGGATGTGTCTGCAGTTCAGGCGAAGTTGGGAGCCCTGGAACTGAACCAGAGGGATGCTGCAGCTGAAACTGAGCTCAGGGTGCACCCACCCTGCCAGCGGCACTGCCCAGAGCCGCCGAGTGCACCCGAAGAAAACAAAGCCACCAGCAAAGCTCCCCAAGGCAGCAACTCAAAAACCCCCATCTTTAGCCCTTTTCCCAGCGTCAAGCCCCTGCGGAAATCTGCTACTGCCAGGAACTTGGGATTATATGGCCCTACAGAAAGAACCCCAACTGTGCACTTTCCTCAAATGAGTAGGAGCTTCAGCAAACCCGGCGGTGGAAACAGTGGCACTAAAAAACGATGA
Amino sequence
MDVLPTGGGRPGLRTELEFRGGGGEARLESQEEETIPAAPPAPRLRGAAERPRRSRDTWDGDEDTEPGEACGGRTSRTASLVSGLLNELYSCTEEEEAAGGGRGAEGRRRRRDSLDSSTEASGSDVVLGGRSGAGDSRVLQELQERPSQRHQMLYLRQKDANELKTILRELKYRIGIQSAKLLRHLKQKDRLLHKVQRNCDIVTACLQAVSQKRRVDTKLKFTLEPSLGQNGFQQWYDALKAVARLSTGIPKEWRRKVWLTLADHYLHSIAIDWDKTMRFTFNERSNPDDDSMGIQIVKDLHRTGCSSYCGQEAEQDRVVLKRVLLAYARWNKTVGYCQGFNILAALILEVMEGNEGDALKIMIYLIDKVLPESYFVNNLRALSVDMAVFRDLLRMKLPELSQHLDTLQRTANKESGGGYEPPLTNVFTMQWFLTLFATCLPNQTVLKIWDSVFFEGSEIILRVSLAIWAKLGEQIECCETADEFYSTMGRLTQEMLENDLLQSHELMQTVYSMAPFPFPQLAELREKYTYNITPFPATVKPTSVSGRHSKARDSDEENDPDDEDAVVNAVGCLGPFSGFLAPELQKYQKQIKEPNEEQSLRSNNIAELSPGAINSCRSEYHAAFNSMMMERMTTDINALKRQYSRIKKKQQQQVHQVYIRADKGPVTSILPSQVNSSPVINHLLLGKKMKMTNRAAKNAVIHIPGHTGGKISPVPYEDLKTKLNSPWRTHIRVHKKNMPRTKSHPGCGDTVGLIDEQNEASKTNGLGAAEAFPSGCTATAGREGSSPEGSTRRTIEGQSPEPVFGDADVDVSAVQAKLGALELNQRDAAAETELRVHPPCQRHCPEPPSAPEENKATSKAPQGSNSKTPIFSPFPSVKPLRKSATARNLGLYGPTERTPTVHFPQMSRSFSKPGGGNSGTKKR*