Description

Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:HGNC:7121]

Synonyms

POC12, MKS, FLJ20345, BBS13

Location
About this transcript

This transcript has 18 exons, is annotated with 9 domains and features, is associated with 647 variations and maps to 403 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MKS1-202ENST00000393119.62397559aaENSP00000376827
 
Protein coding
CCDS11603Q9NXB0 NM_001321268
NM_001321269
NM_017777
NP_001308197
NP_001308198
NP_060247
TSL:1GENCODE basicAPPRIS P1
MKS1-201ENST00000313863.102091456aaENSP00000316631
 
Protein coding
CCDS82170H0Y2S2 NM_001330397
NP_001317326
TSL:5GENCODE basic
MKS1-204ENST00000537529.62083549aaENSP00000442096
 
Protein coding
CCDS54148Q9NXB0 NM_001165927
NP_001159399
TSL:1GENCODE basic
MKS1-206ENST00000577824.51158228aaENSP00000462460
 
Protein coding
-J3KSF4 -CDS 5' incompleteTSL:5
MKS1-213ENST00000585134.1824211aaENSP00000463826
 
Protein coding
-J3QQP4 -CDS 5' incompleteTSL:2
MKS1-205ENST00000577315.5495117aaENSP00000462179
 
Protein coding
-J3KRV5 -CDS 5' incompleteTSL:3
MKS1-203ENST00000393120.61926164aaENSP00000376828
 
Nonsense mediated decay
-J9PBQ5 -TSL:2
MKS1-209ENST00000580127.5843146aaENSP00000462423
 
Nonsense mediated decay
-J3KSC6 -TSL:5
MKS1-211ENST00000581761.5812121aaENSP00000462129
 
Nonsense mediated decay
-J3KRR3 -TSL:3
MKS1-207ENST00000578789.156848aaENSP00000462411
 
Nonsense mediated decay
-J3KSB7 -TSL:4
MKS1-210ENST00000581180.1899No protein-
 
Retained intron
---TSL:2
MKS1-212ENST00000583577.1697No protein-
 
Retained intron
---TSL:2
MKS1-208ENST00000579358.1567No protein-
 
Retained intron
---TSL:4
Statistics

Exons: 18, Coding exons: 18, Transcript length: 2,083 bps, Translation length: 549 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS54148

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NXB0

Transcript Support Level (TSL)

TSL:1

Version

ENST00000537529.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays