Description

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

Synonyms

BBS13, MKS, FLJ20345, POC12

Location

Chromosome 17: 58,205,437-58,219,605 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 13 transcripts (splice variants), 81 orthologues, is a member of 1 Ensembl protein family and is associated with 9 phenotypes.

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

Gene-based displays