ENST00000549940.5 GNPTAB

Information
Transcript ID
ENST00000549940.5
Genome
hg19
Position
chr12:102,161,688-102,224,596
Strand
-
CDS length
1,473
Amino acid length
491
Gene symbol
GNPTAB
Gene type
protein-coding
Gene description
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Gene Entrez Gene ID
79158
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
11 102,161,688 102,161,938
10 102,163,799 102,163,969
9 102,164,184 102,164,363
8 102,164,774 102,164,935
7 102,173,930 102,174,064
6 102,174,335 102,174,399
5 102,179,790 102,179,995
4 102,182,326 102,182,367
3 102,183,716 102,183,835
2 102,190,455 102,190,540
1 102,224,337 102,224,596
CDS
Exon number Type Start Stop
11 CDS 102,161,750 102,161,938
10 CDS 102,163,799 102,163,969
9 CDS 102,164,184 102,164,363
8 CDS 102,164,774 102,164,935
7 CDS 102,173,930 102,174,064
6 CDS 102,174,335 102,174,399
5 CDS 102,179,790 102,179,995
4 CDS 102,182,326 102,182,367
3 CDS 102,183,716 102,183,835
2 CDS 102,190,455 102,190,540
1 CDS 102,224,337 102,224,453
Other genome
Genome Chromosome Start End Links
hg38 chr12 101,767,910 101,830,818 Link
CDS sequence
ATGCTGTTCAAGCTCCTGCAGAGACAGACCTATACCTGCCTGTCCCACAGGTATGGGCTCTACGTGTGCTTCTTGGGCGTCGTTGTCACCATCGTCTCCGCCTTCCAGTTCGGAGAGGTGGTTCTGGAATGGAGCCGAGATCAATACCATGTTTTGTTTGATTCCTATAGAGACAATATTGCTGGAAAGTCCTTTCAGAATCGGCTTTGTCTGCCCATGCCGATTGACGTTGTTTACACCTGGGTGAATGGCACAGATCTTGAACTACTGAAGGAACTACAGCAGGTCAGAGAACAGATGGAGGAGGAGCAGAAAGCAATGAGAGAAATCCTTGGGAAAAACACAACGGAACCTACTAAGAAGAGTGAGAAGCAGTTAGAGTGTTTGCTAACACACTGCATTAAGGTGCCAATGCTTGTCCTGGACCCAGCCCTGCCAGCCAACATCACCCTGAAGGACCTGCCATCTCTTTATCCTTCTTTTCATTCTGCCAGTGACATTTTCAATGTTGCAAAACCAAAAAACCCTTCTACCAATGTCTCAGTTGTTGTTTTTGACAGTACTAAGGATGTTGAAGATGCCCACTCTGGACTGCTTAAAGGAAATAGCAGACAGACAGTATGGAGGGGCTACTTGACAACAGATAAAGAAGTCCCTGGATTAGTGCTAATGCAAGATTTGGCTTTCCTGAGTGGATTTCCACCAACATTCAAGGAAACAAATCAACTAAAAACAAAATTGCCAGAAAATCTTTCCTCTAAAGTCAAACTGTTGCAGTTGTATTCAGAGGCCAGTGTAGCGCTTCTAAAACTGAATAACCCCAAGGATTTTCAAGAATTGAATAAGCAAACTAAGAAGAACATGACCATTGATGGAAAAGAACTGACCATAAGTCCTGCATATTTATTATGGGATCTGAGCGCCATCAGCCAGTCTAAGCAGGATGAAGACATCTCTGCCAGTCGTTTTGAAGATAACGAAGAACTGAGGTACTCATTGCGATCTATCGAGAGGCATGCACCATGGGTTCGGAATATTTTCATTGTCACCAACGGGCAGATTCCATCCTGGCTGAACCTTGACAATCCTCGAGTGACAATAGTAACACACCAGGATGTTTTTCGAAATTTGAGCCACTTGCCTACCTTTAGTTCACCTGCTATTGAAAGTCACATTCATCGCATCGAAGGGCTGTCCCAGAAGTTTATTTACCTAAATGATGATGTCATGTTTGGGAAGGATGTCTGGCCAGATGATTTTTACAGTCACTCCAAAGGCCAGAAGGTTTATTTGACATGGCCTGTGCCAAACTGTGCCGAGGGCTGCCCAGGTTCCTGGATTAAGGATGGCTATTGTGACAAGGCTTGTAATAATTCAGCCTGCGATTGGGATGGTGGGGATTGCTCTGGTAAGGATGTGTTAAACTGTAATTCGTTCATTTTTATGGAATATTTTCTTCTTAATCATTATTGA
Amino sequence
MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGKDVLNCNSFIFMEYFLLNHY*