ENST00000628646.2 SYNGAP1

Information
Transcript ID
ENST00000628646.2
Genome
hg38
Position
chr6:33,420,265-33,449,167
Strand
+
CDS length
3,900
Amino acid length
1,300
Gene symbol
SYNGAP1
Gene type
protein-coding
Gene description
synaptic Ras GTPase activating protein 1
Gene Entrez Gene ID
8831
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 33,420,265 33,420,331
2 33,423,477 33,423,598
3 33,425,798 33,425,903
4 33,432,161 33,432,252
5 33,432,685 33,432,806
6 33,435,152 33,435,305
7 33,435,515 33,435,613
8 33,437,668 33,438,291
9 33,438,419 33,438,563
10 33,438,775 33,438,919
11 33,440,729 33,440,965
12 33,441,173 33,441,374
13 33,441,581 33,441,759
14 33,442,453 33,442,494
15 33,442,889 33,443,960
16 33,444,444 33,444,617
17 33,446,575 33,446,786
18 33,447,843 33,447,933
19 33,448,789 33,449,167
CDS
Exon number Type Start Stop
1 CDS 33,420,265 33,420,331
2 CDS 33,423,477 33,423,598
3 CDS 33,425,798 33,425,903
4 CDS 33,432,161 33,432,252
5 CDS 33,432,685 33,432,806
6 CDS 33,435,152 33,435,305
7 CDS 33,435,515 33,435,613
8 CDS 33,437,668 33,438,291
9 CDS 33,438,419 33,438,563
10 CDS 33,438,775 33,438,919
11 CDS 33,440,729 33,440,965
12 CDS 33,441,173 33,441,374
13 CDS 33,441,581 33,441,759
14 CDS 33,442,453 33,442,494
15 CDS 33,442,889 33,443,960
16 CDS 33,444,444 33,444,617
17 CDS 33,446,575 33,446,786
18 CDS 33,447,843 33,447,933
19 CDS 33,448,789 33,448,803
Other genome
Genome Chromosome Start End Links
hg19 chr6 33,388,042 33,416,944 Link
CDS sequence
ATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCCTTCAGAGATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGATCGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGATGAGGATGAGATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATGAATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCGCAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCGGGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGCTCTATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGTGGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATACTGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGTGTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTTTCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCCTTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACGGCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAACTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTGCCCCATTCCATGGCTATAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTGCTGCCTCCATCCTTCATAGCCACAGCTACAGTGATGAGTTTGGACCCTCTGGCACTGACTTCACCCGTCGGCAGCTTTCACTCCAGGACAACCTGCAGCACATGCTGTCCCCTCCCCAGATCACCATTGGTCCCCAGAGGCCAGCCCCCTCAGGGCCTGGAGGTGGGAGCGGTGGGGGCAGCGGTGGGGGTGGCGGGGGCCAGCCGCCTCCATTGCAGAGGGGCAAGTCTCAGCAGTTGACAGTCAGCGCAGCCCAGAAACCCCGGCCATCCAGCGGGAATCTATTGCAGTCCCCAGAGCCAAGTTATGGCCCCGCCCGTCCACGGCAACAGAGCCTCAGCAAGGAGGGCAGCATTGGGGGCAGCGGGGGCAGCGGTGGCGGAGGGGGTGGGGGGCTGAAGCCCTCCATCACCAAGCAGCATTCTCAGACACCATCCACATTGAACCCCACAATGCCAGCCTCTGAGCGGACAGTGGCCTGGGTCTCCAACATGCCTCACCTGTCGGCTGACATCGAGAGTGCCCACATCGAGCGGGAAGAGTACAAGCTCAAGGAGTACTCAAAATCGATGGATGAGAGCCGGCTGGATAGGGTGAAGGAGTACGAGGAGGAGATTCACTCACTGAAAGAGCGGCTGCACATGTCCAACCGGAAGCTGGAAGAGTATGAGCGGAGGCTGCTGTCCCAGGAAGAACAAACCAGCAAAATCCTGATGCAGTATCAGGCCCGACTGGAGCAGAGTGAGAAGAGGCTAAGGCAGCAGCAGGCAGAGAAGGATTCCCAGATCAAGAGCATCATTGGCAGGCTGATGCTGGTGGAGGAGGAGCTGCGCCGGGACCACCCCGCCATGGCTGAGCCGCTGCCAGAACCCAAGAAGAGGCTGCTCGACGCTCAGCTCCTCATCAGGTAA
Amino sequence
MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLDEDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEGAPAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKESHSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERDKWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRSASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTEQWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEFAEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMEREHLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCPAIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSMQQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLNDISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSSMDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKSVSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSITAAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHHHHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRRQLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSAAQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQTPSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQLLIR*