Description
Meckel syndrome, type 1
Location
Chromosome 17: 58,205,453-58,219,232 reverse strand.
About this transcript
This transcript has 16 exons and is annotated with 7 domains and features.
Gene
This transcript is a product of gene OTTHUMG00000133714 Show transcript tableHide transcript table
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| MKS1-003 | OTTHUMT00000258015.3 | 2397 | 559aa | OTTHUMP00000165111 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11603 | Q9NXB0 | |
| MKS1-002 | OTTHUMT00000258014.3 | 2091 | 456aa | OTTHUMP00000165110 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS82170 | - | |
| MKS1-001 | OTTHUMT00000258013.2 | 2083 | 549aa | OTTHUMP00000165109 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS54148 | - | |
| MKS1-012 | OTTHUMT00000443953.2 | 1158 | 228aa | OTTHUMP00000262292 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| MKS1-010 | OTTHUMT00000443954.1 | 824 | 211aa | OTTHUMP00000260327 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| MKS1-011 | OTTHUMT00000443952.1 | 495 | 117aa | OTTHUMP00000260326 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| MKS1-004 | OTTHUMT00000443950.1 | 1926 | 164aa | OTTHUMP00000260325 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| MKS1-008 | OTTHUMT00000443957.1 | 843 | 146aa | OTTHUMP00000260329 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| MKS1-007 | OTTHUMT00000443956.1 | 812 | 121aa | OTTHUMP00000260328 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| MKS1-005 | OTTHUMT00000443958.1 | 568 | 48aa | OTTHUMP00000260330 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| MKS1-006 | OTTHUMT00000443959.1 | 899 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| MKS1-013 | OTTHUMT00000443951.1 | 697 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| MKS1-009 | OTTHUMT00000443955.1 | 567 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
