EnsemblEnsembl Home
Human (GRCh37.p13)
Description

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

Gene Synonyms

BBS13, FLJ20345, MES, MKS, POC12

Location

Chromosome 17: 56,282,803-56,296,966 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 15 transcripts (splice variants) and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000393119.2MKS1-0032392559aaENSP00000376827.2
 
Protein coding
CCDS11603F5H5Y8 Q9NXB0 NM_017777
NP_060247
GENCODE basic
ENST00000313863.6MKS1-0022091456aaENSP00000316631.6
 
Protein coding
H0Y2S2 -GENCODE basic
ENST00000537529.2MKS1-0012083549aaENSP00000442096.2
 
Protein coding
CCDS54148F5H5Y8 Q9NXB0 NM_001165927
NP_001159399
GENCODE basic
ENST00000546108.1MKS1-2021926356aaENSP00000443012.1
 
Protein coding
F5H5Y8 -GENCODE basic
ENST00000337050.7MKS1-2011576521aaENSP00000338407.7
 
Protein coding
A8MPP8 -GENCODE basic
ENST00000577824.1MKS1-0121158228aaENSP00000462460.1
 
Protein coding
--CDS 5' incomplete
ENST00000585134.1MKS1-010824211aaENSP00000463826.1
 
Protein coding
J3QQP4 -CDS 5' incomplete
ENST00000577315.1MKS1-011495117aaENSP00000462179.1
 
Protein coding
--CDS 5' incomplete
ENST00000393120.2MKS1-0041926164aaENSP00000376828.2
 
Nonsense mediated decay
J9PBQ5 --
ENST00000580127.1MKS1-008843146aaENSP00000462423.1
 
Nonsense mediated decay
J3KSC6 --
ENST00000581761.1MKS1-007812121aaENSP00000462129.1
 
Nonsense mediated decay
J3KRR3 --
ENST00000578789.1MKS1-00556848aaENSP00000462411.1
 
Nonsense mediated decay
J3KSB7 --
ENST00000581180.1MKS1-006899No protein-
 
Retained intron
---
ENST00000583577.1MKS1-013697No protein-
 
Retained intron
---
ENST00000579358.1MKS1-009567No protein-
 
Retained intron
---

Gene-based displays