ENST00000350028.5 SAMM50

Information
Transcript ID
ENST00000350028.5
Genome
hg38
Position
chr22:43,955,442-43,996,529
Strand
+
CDS length
1,410
Amino acid length
470
Gene symbol
SAMM50
Gene type
protein-coding
Gene description
SAMM50 sorting and assembly machinery component
Gene Entrez Gene ID
25813
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
1 43,955,442 43,955,598
2 43,963,286 43,963,396
3 43,964,452 43,964,553
4 43,968,731 43,968,818
5 43,972,236 43,972,342
6 43,972,871 43,973,001
7 43,973,236 43,973,323
8 43,976,055 43,976,183
9 43,976,750 43,976,821
10 43,977,872 43,977,958
11 43,981,391 43,981,461
12 43,983,933 43,984,000
13 43,989,111 43,989,257
14 43,990,265 43,990,406
15 43,996,338 43,996,529
CDS
Exon number Type Start Stop
1 CDS 43,955,578 43,955,598
2 CDS 43,963,286 43,963,396
3 CDS 43,964,452 43,964,553
4 CDS 43,968,731 43,968,818
5 CDS 43,972,236 43,972,342
6 CDS 43,972,871 43,973,001
7 CDS 43,973,236 43,973,323
8 CDS 43,976,055 43,976,183
9 CDS 43,976,750 43,976,821
10 CDS 43,977,872 43,977,958
11 CDS 43,981,391 43,981,461
12 CDS 43,983,933 43,984,000
13 CDS 43,989,111 43,989,257
14 CDS 43,990,265 43,990,406
15 CDS 43,996,338 43,996,383
Other genome
Genome Chromosome Start End Links
hg19 chr22 44,351,322 44,392,409 Link
CDS sequence
ATGGGGACTGTGCACGCCCGGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGATTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATTTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGGAAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCACTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGCAGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGTATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGAGCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTATGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGAATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCACAGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGCCAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCCAAAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAACTTAATTACTGCGTCCCCATGGGAGTACAGACAGGCGACAGGATATGTGATGGCGTCCAGTTTGGAGCTGGGATAAGGTTCCTGTAG
Amino sequence
MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVHFDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGPKAHIRKLAECIRWSYGAGIVLRLGNIARLELNYCVPMGVQTGDRICDGVQFGAGIRFL*